{"meta":{"page":1,"per_page":50,"max_per_page":100,"total":974,"total_is_capped":false,"direct_labels_cover":0,"predictions_cover":974,"direct_label_status":"direct model label, unvalidated","prediction_status":"machine_predicted_unvalidated (Codex and Gemma teacher distillation)","score_status":"score_only:v0-immature-baseline (scores rank; they never assert a category)","snapshot":{"source":"OpenAlex, pinned release, all 482 partitions","release":"2026-06-24","frame_built":"2026-07-12","author_layer_release":"2026-06-26"},"query_hash":"f00a40883d20","filters":{"venue":"American Journal of Medical Genetics Part A"}},"results":[{"id":"W2116283958","doi":"10.1002/ajmg.a.31074","title":"Angelman syndrome 2005: Updated consensus for diagnostic criteria","year":2006,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":646,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Hamilton Health Sciences; McMaster Children's Hospital","funders":"","keywords":"Statement (logic); Consensus conference; Angelman syndrome; Scientific consensus; Salient; Scientific evidence; Management science; MEDLINE; Scientific literature; Computer science; Psychology; Medical physics; Medicine; Political science; Artificial intelligence; Epistemology; Engineering; Library science; Law","authors":[{"name":"Charles A. Williams","is_ca":false},{"name":"Arthur L. Beaudet","is_ca":false},{"name":"Jill Clayton‐Smith","is_ca":false},{"name":"Joan H.M. Knoll","is_ca":false},{"name":"Mårtin Kyllerman","is_ca":false},{"name":"Laura Laan","is_ca":false},{"name":"R. Ellen Magenis","is_ca":false},{"name":"A Moncla","is_ca":false},{"name":"Albert Schinzel","is_ca":false},{"name":"Jane Summers","is_ca":true},{"name":"Joseph Wagstaff","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.00980346440927048,"gpt":0.2805707475976675,"spread":0.270767283188397,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.04589821,0.002239714,0.004206175,0.01705842,0.001938222,0.003995033,0.010223,0.006874027,0.00282117],"category_scores_gemma":[0.06354504,0.001204791,0.004071203,0.008339832,0.002555137,0.003601766,0.004456951,0.008808102,0.003275458],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.007617493,"about_ca_system_score_gemma":0.02138941,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01687913,"about_ca_topic_score_gemma":0.0167958,"domain_scores_codex":[0.9769455,0.007179203,0.007472905,0.001206718,0.006067531,0.001128093],"domain_scores_gemma":[0.9440995,0.01003916,0.004417838,0.001463865,0.03718838,0.002791306],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0002047133,0.000131484,0.006579258,0.004155606,0.0002867497,0.001614412,0.0008264348,0.001824899,0.001257266,0.01267827,0.6177425,0.3526984],"study_design_scores_gemma":[0.0002963039,0.0001454153,0.01897538,0.01561969,0.0006030011,0.01151576,0.001216875,0.002478967,0.001709382,0.02075032,0.9263899,0.0002990243],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"review","genre_gemma":"other","genre_scores_codex":[0.01211475,0.4462733,0.1622025,0.2426905,0.06110995,0.004850451,0.01375633,0.002350429,0.0546518],"genre_scores_gemma":[0.06199757,0.2012771,0.6085189,0.03279245,0.01138472,0.007963553,0.05594338,0.000989153,0.01913314],"genre_candidate":"other","genre_consensus":null,"teacher_disagreement_score":0.04589821,"threshold_uncertainty_score":0.2427359,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2063675796","doi":"10.1002/ajmg.a.36887","title":"Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>","year":2015,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"interferon and immune responses","field":"Immunology and Microbiology","cited_by":613,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"McMaster University; McMaster Children's Hospital; Mount Sinai Hospital; McGill University; BC Children's Hospital; Montreal Neurological Institute and Hospital; University of Toronto; SickKids Foundation; Hospital for Sick Children; Montreal Children's Hospital","funders":"National Center for Research Resources; Agence Nationale de la Recherche; European Commission","keywords":"Medicine; Encephalopathy; Compound heterozygosity; Pathology; Internal medicine; Immunology; Phenotype; Gastroenterology; Gene; Biology; Genetics","authors":[{"name":"Yanick J. Crow","is_ca":false},{"name":"Diana Chase","is_ca":false},{"name":"Johanna L. Schmidt","is_ca":false},{"name":"Marcin Szynkiewicz","is_ca":false},{"name":"Gabriella Forte","is_ca":false},{"name":"Hannah Gornall","is_ca":false},{"name":"Anthony Oojageer","is_ca":false},{"name":"Beverley Anderson","is_ca":false},{"name":"Amy Pizzino","is_ca":false},{"name":"Guy Helman","is_ca":false},{"name":"Mohamed S. Abdel‐Hamid","is_ca":false},{"name":"Ghada M. H. Abdel‐Salam","is_ca":false},{"name":"Sam Ackroyd","is_ca":false},{"name":"Alec Aeby","is_ca":false},{"name":"Guillermo Agosta","is_ca":false},{"name":"Catherine S. W. Albin","is_ca":false},{"name":"Stavit A. Shalev","is_ca":false},{"name":"Montse Arellano","is_ca":false},{"name":"Giada Ariaudo","is_ca":false},{"name":"Vijay Aswani","is_ca":false},{"name":"Riyana Babul‐Hirji","is_ca":true},{"name":"Eileen Baildam","is_ca":false},{"name":"Nadia Bahi‐Buisson","is_ca":false},{"name":"Kathryn Bailey","is_ca":false},{"name":"Christine Barnérias","is_ca":false},{"name":"Magalie Barth","is_ca":false},{"name":"Roberta Battini","is_ca":false},{"name":"Michael W. Beresford","is_ca":false},{"name":"Geneviève Bernard","is_ca":true},{"name":"Marika Bianchi","is_ca":false},{"name":"Thierry Billette de Villemeur","is_ca":false},{"name":"Edward Blair","is_ca":false},{"name":"Miriam Bloom","is_ca":false},{"name":"Alberto Burlina","is_ca":false},{"name":"Maria Luisa Carpanelli","is_ca":false},{"name":"Daniel R. Carvalho","is_ca":false},{"name":"Manuel Castro‐Gago","is_ca":false},{"name":"Anna Cavallini","is_ca":false},{"name":"Cristina Cereda","is_ca":false},{"name":"Kate Chandler","is_ca":false},{"name":"David Chitayat","is_ca":true},{"name":"Abigail E. Collins","is_ca":false},{"name":"Concepción Sierra Córcoles","is_ca":false},{"name":"Nuno Cordeiro","is_ca":false},{"name":"Giovanni Crichiutti","is_ca":false},{"name":"Lyvia Dabydeen","is_ca":false},{"name":"Russell C. Dale","is_ca":false},{"name":"Stefano D’Arrigo","is_ca":false},{"name":"Christian G E L De Goede","is_ca":false},{"name":"Corinne De Laet","is_ca":false},{"name":"Liesbeth M. H. De Waele","is_ca":false},{"name":"Inés María Denzler","is_ca":false},{"name":"Isabelle Desguerre","is_ca":false},{"name":"Koenraad Devriendt","is_ca":false},{"name":"Maja Di Rocco","is_ca":false},{"name":"Michael Fahey","is_ca":false},{"name":"Elisa Fazzi","is_ca":false},{"name":"Colin D. Ferrie","is_ca":false},{"name":"António Figueiredo","is_ca":false},{"name":"Blanca Gener","is_ca":false},{"name":"Cyril Goizet","is_ca":false},{"name":"Nirmala Gowrinathan","is_ca":false},{"name":"Kalpana Gowrishankar","is_ca":false},{"name":"Donncha Hanrahan","is_ca":false},{"name":"Bertrand Isidor","is_ca":false},{"name":"Bülent Kara","is_ca":false},{"name":"Naz Khan","is_ca":false},{"name":"Mary D. King","is_ca":false},{"name":"Edwin P. Kirk","is_ca":false},{"name":"Ram Kumar","is_ca":false},{"name":"Lieven Lagae","is_ca":false},{"name":"P. Landrieu","is_ca":false},{"name":"Heinz Lauffer","is_ca":false},{"name":"Vincent Laugel","is_ca":false},{"name":"Roberta La Piana","is_ca":true},{"name":"Ming Lim","is_ca":false},{"name":"Jean‐Pierre Lin","is_ca":false},{"name":"Tarja Linnankivi","is_ca":false},{"name":"Mark T. Mackay","is_ca":false},{"name":"Daphna Marom","is_ca":false},{"name":"Charles Marques Lourenço","is_ca":false},{"name":"Shane McKee","is_ca":false},{"name":"Isabella Moroni","is_ca":false},{"name":"Jenny E.V. Morton","is_ca":false},{"name":"Marie‐Laure Moutard","is_ca":false},{"name":"Kevin Murray","is_ca":false},{"name":"Rima Nabbout","is_ca":false},{"name":"Sheela Nampoothiri","is_ca":false},{"name":"Noemí Núñez‐Enamorado","is_ca":false},{"name":"P.J. Oades","is_ca":false},{"name":"Ivana Olivieri","is_ca":false},{"name":"John R. Østergaard","is_ca":false},{"name":"Belén Pérez‐Dueñas","is_ca":false},{"name":"Julie Prendiville","is_ca":true},{"name":"Venkateswaran Ramesh","is_ca":false},{"name":"Magnhild Rasmussen","is_ca":false},{"name":"Luc Régal","is_ca":false},{"name":"Federica Ricci","is_ca":false},{"name":"Marlène Rio","is_ca":false},{"name":"Diana Rodriguez","is_ca":false},{"name":"Agathe Roubertie","is_ca":false},{"name":"E. Salvatici","is_ca":false},{"name":"Karin Segers","is_ca":false},{"name":"G Sinha","is_ca":false},{"name":"Doriette Soler","is_ca":false},{"name":"Ronen Spiegel","is_ca":false},{"name":"Tommy Stödberg","is_ca":false},{"name":"Rachel Straussberg","is_ca":false},{"name":"Kathryn J. Swoboda","is_ca":false},{"name":"Mohnish Suri","is_ca":false},{"name":"Uta Tacke","is_ca":false},{"name":"Tiong Yang Tan","is_ca":false},{"name":"Johann te Water Naudé","is_ca":false},{"name":"Keng Wee Teik","is_ca":false},{"name":"Maya Thomas","is_ca":false},{"name":"Marianne Till","is_ca":false},{"name":"Davide Tonduti","is_ca":false},{"name":"Enza Maria Valente","is_ca":false},{"name":"Rudy N. Van Coster","is_ca":false},{"name":"Marjo S. van der Knaap","is_ca":false},{"name":"Grace Vassallo","is_ca":false},{"name":"Raymon Vijzelaar","is_ca":false},{"name":"Julie Vogt","is_ca":false},{"name":"Geoffrey Wallace","is_ca":false},{"name":"Evangeline Wassmer","is_ca":false},{"name":"Hannah J. Webb","is_ca":false},{"name":"William Whitehouse","is_ca":false},{"name":"Robyn Whitney","is_ca":true},{"name":"Maha S. Zaki","is_ca":false},{"name":"Sameer M. Zuberi","is_ca":false},{"name":"John H. Livingston","is_ca":false},{"name":"Flore Rozenberg","is_ca":false},{"name":"Pierre Lebon","is_ca":false},{"name":"Adeline Vanderver","is_ca":false},{"name":"Simona Orcesi","is_ca":false},{"name":"Gillian Rice","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01575081803052654,"gpt":0.2634922272323338,"spread":0.2477414092018073,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009492531,0.0001871143,0.0001819092,0.0003536346,0.0002083556,0.0001482169,0.0001158251,0.0001281904,0.001113151],"category_scores_gemma":[0.0003885931,0.00008578924,0.000135253,0.0002862159,0.0002565968,0.00007519305,0.0001771651,0.0001263043,0.0002336782],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001214253,"about_ca_system_score_gemma":0.0001065996,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001122803,"about_ca_topic_score_gemma":0.00110521,"domain_scores_codex":[0.9999173,0.00001912141,0.00001017606,0.00002275119,0.00001468836,0.00001611219],"domain_scores_gemma":[0.9998389,0.00005220086,0.00005714501,0.00002032253,0.00001008274,0.00002128646],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001256748,0.0001307138,0.8373238,0.0001231304,0.00008923248,0.01854652,0.001023362,0.0004425534,0.1204494,0.0003722521,0.0007280298,0.01951435],"study_design_scores_gemma":[0.00004539594,0.0005230014,0.9161947,0.00001810875,0.00005500552,0.06808025,0.0003429804,0.0003739726,0.01025114,0.0002050643,0.003891161,0.00001931564],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990965,0.0002054761,0.0001402253,0.000006912645,0.000001354519,0.000004426216,0.0002025466,0.000002624027,0.0003400499],"genre_scores_gemma":[0.9985739,0.0002738163,0.0002189701,0.00000985946,0.000002949027,0.000006701048,0.0006967074,0.000003003667,0.0002140603],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001122803,"threshold_uncertainty_score":0.00372386,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2981690656","doi":"10.1002/ajmg.a.61366","title":"Nosology and classification of genetic skeletal disorders: 2019 revision","year":2019,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":608,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"","funders":"Institute of Genetics; Medical Research Council; Istituto Ortopedico Rizzoli di Bologna; Universiteit Antwerpen","keywords":"Nosology; Identification (biology); Medical diagnosis; Bioinformatics; Medicine; Biology; Computational biology; Psychiatry; Pathology","authors":[{"name":"Geert Mortier","is_ca":false},{"name":"Daniel H. Cohn","is_ca":false},{"name":"Valérie Cormier‐Daire","is_ca":false},{"name":"Christine M Hall","is_ca":false},{"name":"Deborah Krakow","is_ca":false},{"name":"Stefan Mundlos","is_ca":false},{"name":"Gen Nishimura","is_ca":false},{"name":"Stephen P. Robertson","is_ca":false},{"name":"Luca Sangiorgi","is_ca":false},{"name":"Ravi Savarirayan","is_ca":false},{"name":"David Sillence","is_ca":false},{"name":"Andrea Superti‐Furga","is_ca":false},{"name":"Sheila Unger","is_ca":false},{"name":"Matthew L. Warman","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01049697357912904,"gpt":0.3158115843622726,"spread":0.3053146107831435,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.007522957,0.001462289,0.001470064,0.01092123,0.001757256,0.003404372,0.003343136,0.001809812,0.01233379],"category_scores_gemma":[0.01524684,0.0006458071,0.002550693,0.006125718,0.002597442,0.002197228,0.002587058,0.004663164,0.01644258],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.004894425,"about_ca_system_score_gemma":0.01182065,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.02192365,"about_ca_topic_score_gemma":0.01364091,"domain_scores_codex":[0.9936389,0.0009616924,0.002245738,0.0007656863,0.001837204,0.000550797],"domain_scores_gemma":[0.9762188,0.001589119,0.002193006,0.001160483,0.01736661,0.001471979],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"theoretical_or_conceptual","study_design_scores_codex":[0.0003707951,0.0001622279,0.02262042,0.001839454,0.0001498682,0.001762317,0.0006089005,0.001032354,0.004039277,0.01718704,0.5391688,0.4110585],"study_design_scores_gemma":[0.00006453681,0.0001090261,0.02583103,0.00123108,0.0001319203,0.005458487,0.0003405063,0.0007510182,0.000843477,0.004090589,0.9610751,0.00007328492],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":null,"genre_codex":"review","genre_gemma":"methods","genre_scores_codex":[0.06794651,0.2069636,0.1088159,0.1489714,0.1827084,0.004369404,0.06919666,0.004473899,0.2065543],"genre_scores_gemma":[0.1549572,0.1464333,0.2634638,0.02476299,0.04100006,0.004085716,0.2344382,0.002366666,0.128492],"genre_candidate":"methods","genre_consensus":null,"teacher_disagreement_score":0.02192365,"threshold_uncertainty_score":0.0435921,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2132189464","doi":"10.1002/ajmg.a.30984","title":"Clinical features of 78 adults with 22q11 deletion syndrome","year":2005,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":491,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"Hospital for Sick Children; University of Waterloo; University of Toronto; Centre for Addiction and Mental Health; University Health Network","funders":"Canadian Institutes of Health Research","keywords":"Deletion syndrome; Medicine; Tetralogy of Fallot; Pediatrics; Confidence interval; Schizophrenia (object-oriented programming); Internal medicine; Psychiatry; Heart disease; Phenotype; Genetics","authors":[{"name":"Anne S. Bassett","is_ca":true},{"name":"Eva W.C. Chow","is_ca":true},{"name":"Janice Husted","is_ca":true},{"name":"Rosanna Weksberg","is_ca":true},{"name":"Oana Caluseriu","is_ca":true},{"name":"Gary D. Webb","is_ca":true},{"name":"Michael Α. Gatzoulis","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01094675255620808,"gpt":0.334998621353462,"spread":0.324051868797254,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003357735,0.000463935,0.0007531928,0.000873883,0.0007351856,0.0004386885,0.0002545565,0.0004412908,0.001943857],"category_scores_gemma":[0.002873938,0.0003501264,0.0002157998,0.0008490074,0.0003630008,0.0003732907,0.0007043479,0.0002656051,0.0005400363],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004417121,"about_ca_system_score_gemma":0.0003023155,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004570012,"about_ca_topic_score_gemma":0.004561755,"domain_scores_codex":[0.9994968,0.0000727186,0.00009248982,0.0001251502,0.000110163,0.0001026092],"domain_scores_gemma":[0.9992129,0.0001774913,0.0002828704,0.0000455965,0.00009613991,0.0001849658],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001109128,0.00003047851,0.9949654,0.00001202067,0.000005960819,0.001803278,0.0005566193,0.00003592308,0.0005668103,0.00001268081,0.00011396,0.001785943],"study_design_scores_gemma":[0.00001412684,0.0001938915,0.9937426,0.000009453674,0.00001046315,0.004868746,0.0004556291,0.00006227761,0.0001009898,0.0000187393,0.0005175392,0.000005508078],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992187,0.0001300033,0.00003432207,0.00001699014,0.000002057245,0.00002548096,0.0002570459,0.000003378176,0.0003120437],"genre_scores_gemma":[0.9989445,0.0001280559,0.0001354718,0.00002612832,0.00001014527,0.00004654728,0.0005017332,0.000002341847,0.0002051871],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004570012,"threshold_uncertainty_score":0.009086788,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2164642954","doi":"10.1002/ajmg.a.20495","title":"The hedgehog signaling network","year":2003,"lang":"en","type":"review","venue":"American Journal of Medical Genetics Part A","topic":"Hedgehog Signaling Pathway Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":413,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Dalhousie University","funders":"","keywords":"Patched; Smoothened; Hedgehog; Biology; Cell biology; Hedgehog signaling pathway; Transmembrane protein; Signal transduction; Biochemistry; Receptor","authors":[{"name":"M. Michael Cohen","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.03721702758325577,"gpt":0.3484946675660194,"spread":0.3112776399827636,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002321067,0.0006891244,0.0003705376,0.0006091244,0.0006340098,0.002331286,0.0005747982,0.0006824154,0.02340335],"category_scores_gemma":[0.0003811298,0.0001925511,0.0002539626,0.0005418226,0.0005964467,0.0009276497,0.00170298,0.0007736001,0.01046619],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001037467,"about_ca_system_score_gemma":0.001386452,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001463805,"about_ca_topic_score_gemma":0.001398698,"domain_scores_codex":[0.9996465,0.00004410972,0.00001921555,0.00009450292,0.0001289891,0.00006676961],"domain_scores_gemma":[0.9998174,0.00001576537,0.00002344358,0.00002330157,0.00005527684,0.00006477771],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0003094769,0.00009407994,0.004297545,0.001104216,0.0001746918,0.001141219,0.0003824783,0.001846169,0.04213084,0.1809097,0.1451458,0.6224637],"study_design_scores_gemma":[0.00003357812,0.00008764978,0.002904299,0.0002543628,0.00005195678,0.0009173095,0.0001483958,0.0008404634,0.004699026,0.03048872,0.9595521,0.00002207062],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"other","genre_gemma":"review","genre_scores_codex":[0.05171622,0.09259713,0.04281954,0.01319404,0.00365326,0.0004698767,0.009355934,0.002694016,0.7835],"genre_scores_gemma":[0.5411307,0.06609913,0.02714297,0.008399303,0.001356064,0.0004707423,0.01159637,0.0002291362,0.3435756],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.02340335,"threshold_uncertainty_score":0.07829201,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2054121301","doi":"10.1002/ajmg.a.31368","title":"The new bone biology: Pathologic, molecular, and clinical correlates","year":2006,"lang":"en","type":"review","venue":"American Journal of Medical Genetics Part A","topic":"Bone health and treatments","field":"Medicine","cited_by":337,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Dalhousie University","funders":"","keywords":"Endochondral ossification; Fibrodysplasia ossificans progressiva; Intramembranous ossification; Osteogenesis imperfecta; Cartilage; Pathology; Medicine; Endocrinology; Internal medicine; Anatomy; Ossification","authors":[{"name":"M. Michael Cohen","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.05207996066486382,"gpt":0.4360676458186555,"spread":0.3839876851537917,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004390171,0.0004661459,0.000491791,0.001984912,0.0004356513,0.0009908434,0.0006159457,0.0008957619,0.004790241],"category_scores_gemma":[0.0008300454,0.0001655255,0.0002183201,0.001367598,0.002369766,0.0007656924,0.0006988398,0.0006587468,0.0009862201],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004838747,"about_ca_system_score_gemma":0.0006113138,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004723551,"about_ca_topic_score_gemma":0.0007681568,"domain_scores_codex":[0.9996749,0.00006040432,0.0000399105,0.00007694698,0.0001059186,0.00004193921],"domain_scores_gemma":[0.9993913,0.0001449821,0.0001505894,0.00006978844,0.0001104983,0.0001328167],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001152155,0.0003878186,0.2319635,0.001747901,0.0002386221,0.03455367,0.001261936,0.0007293285,0.09429865,0.1042231,0.01703612,0.5124072],"study_design_scores_gemma":[0.0002277102,0.0009510751,0.3211427,0.0006179053,0.0002574058,0.300513,0.001434624,0.0009816329,0.01298341,0.04724381,0.3135678,0.00007893079],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.3172497,0.5849241,0.01038574,0.01305503,0.001698789,0.000192578,0.001489206,0.0004159991,0.0705889],"genre_scores_gemma":[0.8774642,0.09877124,0.005713382,0.001610732,0.004288135,0.000136334,0.0009084967,0.00004638866,0.01106105],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.004790241,"threshold_uncertainty_score":0.01602495,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W1983281087","doi":"10.1002/ajmg.a.30406","title":"Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: A 22-year prospective, population-based, cohort study","year":2005,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":323,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true},"ca_institutions":"University of Toronto; Simon Fraser University; Memorial University of Newfoundland","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; Canadian Institutes of Health Research; Wellcome Trust","keywords":"Pediatrics; Medicine; Epidemiology; Population; Bardet–Biedl syndrome; Polydactyly; Genetics; Internal medicine; Phenotype; Biology","authors":[{"name":"Susan Moore","is_ca":true},{"name":"Jane S. Green","is_ca":true},{"name":"Yanli Fan","is_ca":true},{"name":"Ashvinder K. Bhogal","is_ca":true},{"name":"Elizabeth Dicks","is_ca":true},{"name":"Bridget A. Fernandez","is_ca":true},{"name":"Mark Stefanelli","is_ca":true},{"name":"Christopher Murphy","is_ca":true},{"name":"B. Cramer","is_ca":true},{"name":"John Dean","is_ca":false},{"name":"Philip L. Beales","is_ca":false},{"name":"Nicholas Katsanis","is_ca":false},{"name":"Anne S. Bassett","is_ca":true},{"name":"William S. Davidson","is_ca":true},{"name":"Patrick S. Parfrey","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01312703247750065,"gpt":0.3293399881601268,"spread":0.3162129556826261,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007223107,0.0004775968,0.0006420907,0.001568857,0.001357456,0.0008999565,0.0008136752,0.0006345644,0.001137125],"category_scores_gemma":[0.001460213,0.0007119644,0.0003910206,0.001743293,0.0007170284,0.0009139447,0.000999535,0.0007362879,0.000325179],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.003094963,"about_ca_system_score_gemma":0.001810289,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.4368571,"about_ca_topic_score_gemma":0.4750296,"domain_scores_codex":[0.9991193,0.0001316074,0.00007263944,0.0002466061,0.0001860703,0.0002437554],"domain_scores_gemma":[0.9984976,0.0001203589,0.0005198459,0.0001248947,0.0002868251,0.0004504585],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00003239015,0.00002131243,0.9988028,0.000003305128,0.00002585517,0.0002051723,0.0001343918,0.00001836803,0.000114805,0.000006859633,0.0001363999,0.0004983746],"study_design_scores_gemma":[0.000002454724,0.00001843302,0.999435,0.000003914326,0.000009107559,0.0002219196,0.0001491984,0.00003931683,0.000008769384,0.000002548427,0.0001061755,0.000003161266],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983029,0.0002479794,0.00007135705,0.00009492155,0.000005735873,0.00001575893,0.0008316755,0.000005868984,0.0004237313],"genre_scores_gemma":[0.9983214,0.0002336134,0.0001100649,0.00007870138,0.00001003528,0.00002587872,0.0008525468,0.000004425473,0.0003633941],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5631429,"threshold_uncertainty_score":0.8686286,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W1988673699","doi":"10.1002/ajmg.a.36552","title":"Clinical delineation and natural history of the <i>PIK3CA</i>‐related overgrowth spectrum","year":2014,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Vascular Malformations and Hemangiomas","field":"Medicine","cited_by":312,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"McGill University; Montreal Children's Hospital; McGill University Health Centre","funders":"National Human Genome Research Institute; Wellcome Trust; NIHR Cambridge Biomedical Research Centre; National Institutes of Health; Medical Research Council; National Institute for Health and Care Research","keywords":"Proteus syndrome; Macrocephaly; Lipomatosis; Megalencephaly; Hemihypertrophy; Pathology; Natural history; Medicine; Phenotype; Biology; Internal medicine; Genetics","authors":[{"name":"Kim M. Keppler‐Noreuil","is_ca":false},{"name":"Julie C. Sapp","is_ca":false},{"name":"Marjorie J. Lindhurst","is_ca":false},{"name":"Victoria E R Parker","is_ca":false},{"name":"Cathy Blumhorst","is_ca":false},{"name":"Thomas N. Darling","is_ca":false},{"name":"Laura L. Tosi","is_ca":false},{"name":"Susan Huson","is_ca":false},{"name":"Richard W. Whitehousé","is_ca":false},{"name":"Eveliina Jakkula","is_ca":false},{"name":"I. P. Grant","is_ca":false},{"name":"Meena Balasubramanian","is_ca":false},{"name":"Kate Chandler","is_ca":false},{"name":"Jamie L. Fraser","is_ca":false},{"name":"Zoran Gucev","is_ca":false},{"name":"Yanick J. Crow","is_ca":false},{"name":"Leslie Manace Brennan","is_ca":false},{"name":"Robin D. Clark","is_ca":false},{"name":"Elizabeth A. Sellars","is_ca":false},{"name":"Loren Peña","is_ca":false},{"name":"Vidya Krishnamurty","is_ca":false},{"name":"Andrew Y. Shuen","is_ca":true},{"name":"Nancy Braverman","is_ca":true},{"name":"Michael L. Cunningham","is_ca":false},{"name":"V. Reid Sutton","is_ca":false},{"name":"Velibor Tasić","is_ca":false},{"name":"John M. Graham","is_ca":false},{"name":"Joseph S. Geer","is_ca":false},{"name":"Alex Henderson","is_ca":false},{"name":"Robert K. Semple","is_ca":false},{"name":"Leslie G. Biesecker","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01074790720362592,"gpt":0.2783050449275783,"spread":0.2675571377239524,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000154247,0.0002613766,0.0001678461,0.0004882921,0.0001987059,0.00028664,0.000148688,0.0002435889,0.000768457],"category_scores_gemma":[0.0008448404,0.0001254497,0.0001124207,0.0002543399,0.000444987,0.0003020133,0.0003510702,0.0002602437,0.0001660445],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001552011,"about_ca_system_score_gemma":0.0001509728,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006630076,"about_ca_topic_score_gemma":0.000687529,"domain_scores_codex":[0.999873,0.00001951515,0.00001387084,0.00003226464,0.00002613708,0.0000352269],"domain_scores_gemma":[0.9997131,0.00007969174,0.00009434505,0.00001526144,0.00002715816,0.0000703072],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003851256,0.00006339672,0.8812752,0.00002908948,0.00002221363,0.053183,0.000835194,0.000587925,0.03966951,0.0005566571,0.0004599588,0.02293275],"study_design_scores_gemma":[0.00001563717,0.0002244248,0.8023196,0.00001684748,0.00002060698,0.1922512,0.0004171779,0.0007735345,0.002809338,0.0003910366,0.000743854,0.00001672851],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984136,0.0001674538,0.0002417187,0.00003820382,0.000001245744,0.000006382527,0.00003060439,0.00001044573,0.001090409],"genre_scores_gemma":[0.9996344,0.00005879461,0.0001349623,0.0000226727,0.000003352894,0.000003506284,0.00003922344,0.000002347881,0.0001007248],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.000768457,"threshold_uncertainty_score":0.002570748,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2132579761","doi":"10.1002/ajmg.a.31757","title":"Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance","year":2007,"lang":"en","type":"review","venue":"American Journal of Medical Genetics Part A","topic":"RNA modifications and cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":280,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; Oogfonds; Fondazione Pierfranco e Luisa Mariani; Cornelia de Lange Syndrome Foundation","keywords":"Cornelia de Lange Syndrome; Natural history; Medicine; Pediatrics; Broad spectrum; Intensive care medicine; Psychology","authors":[{"name":"Antonie D. Kline","is_ca":false},{"name":"Ian D. Krantz","is_ca":false},{"name":"Annemarie Sommer","is_ca":false},{"name":"Mark A. Kliewer","is_ca":false},{"name":"Laird G. Jackson","is_ca":false},{"name":"David Fitzpatrick","is_ca":false},{"name":"Alex V. Levin","is_ca":true},{"name":"Angelo Selicorni","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.09462815408473162,"gpt":0.4460960761536224,"spread":0.3514679220688908,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001300093,0.001324557,0.00233378,0.006315825,0.0003267478,0.001024248,0.001922805,0.001170677,0.001401172],"category_scores_gemma":[0.002472945,0.0003924395,0.0006629475,0.005073298,0.000728656,0.001708408,0.0005418104,0.001635758,0.001119569],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001074009,"about_ca_system_score_gemma":0.001518122,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002321195,"about_ca_topic_score_gemma":0.003744332,"domain_scores_codex":[0.9994475,0.0001171051,0.0001551939,0.00007693739,0.000170078,0.00003300948],"domain_scores_gemma":[0.9988826,0.0004884848,0.0001797227,0.00003041591,0.0003436618,0.00007513237],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00006541208,0.00005994358,0.0007971518,0.00806863,0.00008330919,0.001080487,0.00005504238,0.0004809283,0.000586275,0.001597835,0.05022938,0.9368957],"study_design_scores_gemma":[0.00007640057,0.0001833488,0.008419899,0.01892492,0.0004566899,0.0302093,0.0002814884,0.0005604427,0.0006095758,0.003852854,0.9363215,0.0001035729],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0003069896,0.9972173,0.0004603708,0.0006751458,0.000366227,0.00001654245,0.00004052315,0.00002744694,0.0008895307],"genre_scores_gemma":[0.001849321,0.9951001,0.001565945,0.00051734,0.0003940121,0.00002326575,0.0001253678,0.00000419841,0.0004204226],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.006315825,"threshold_uncertainty_score":0.007792473,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2051889170","doi":"10.1002/ajmg.a.33657","title":"De novo <i>ACTA2</i> mutation causes a novel syndrome of multisystemic smooth muscle dysfunction","year":2010,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":269,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"SickKids Foundation; Hospital for Sick Children","funders":"National Center for Research Resources; National Heart, Lung, and Blood Institute","keywords":"Smooth muscle; Peristalsis; Contraction (grammar); Gene isoform; Mutation; Biology; Actin; Pulmonary hypertension; Internal medicine; Gene; Medicine; Endocrinology; Anatomy; Pathology; Cell biology; Genetics","authors":[{"name":"Dianna M. Milewicz","is_ca":false},{"name":"John R. Østergaard","is_ca":false},{"name":"Leena Ala‐Kokko","is_ca":false},{"name":"Nadia Khan","is_ca":false},{"name":"Dorothy K. Grange","is_ca":false},{"name":"Roberto Mendoza‐Londono","is_ca":true},{"name":"Timothy J. Bradley","is_ca":true},{"name":"Ann Haskins Olney","is_ca":false},{"name":"Lesley C. Adès","is_ca":false},{"name":"Joseph F. Maher","is_ca":false},{"name":"Dongchuan Guo","is_ca":false},{"name":"L. Maximilian Buja","is_ca":false},{"name":"Dong Kim","is_ca":false},{"name":"James Hyland","is_ca":false},{"name":"Ellen S. Regalado","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01204661870705813,"gpt":0.3013504493362733,"spread":0.2893038306292151,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001858058,0.001706422,0.0005441492,0.0007545868,0.0005489374,0.0003377152,0.0004811949,0.001456704,0.001527154],"category_scores_gemma":[0.0005570809,0.0003464246,0.0004677926,0.0003850901,0.0008528677,0.0002915918,0.0006913801,0.0008429185,0.0004422094],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000238224,"about_ca_system_score_gemma":0.0002512546,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004173078,"about_ca_topic_score_gemma":0.0005145803,"domain_scores_codex":[0.9996427,0.00004167114,0.00004547065,0.0001353376,0.00008643581,0.00004838946],"domain_scores_gemma":[0.9995452,0.0001236204,0.0001276465,0.00003109045,0.00002123536,0.0001512464],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0002861007,0.000161458,0.01263796,0.0001034287,0.0001132284,0.641749,0.0004339154,0.000319157,0.3360851,0.001282639,0.0008371384,0.005990975],"study_design_scores_gemma":[0.0001193719,0.0003848435,0.04737032,0.00002974834,0.0001793394,0.9028821,0.0001444321,0.001138877,0.04229571,0.0005500288,0.004855728,0.00004952351],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9898863,0.000612632,0.005104885,0.0005250121,0.0001596266,0.00004574357,0.0004334976,0.0002683286,0.002964039],"genre_scores_gemma":[0.9950334,0.0003435109,0.002850383,0.000149446,0.0001964492,0.00001701642,0.0002384994,0.00004336345,0.001127908],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001706422,"threshold_uncertainty_score":0.005108833,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2137303374","doi":"10.1002/ajmg.a.20665","title":"3D analysis of facial morphology","year":2004,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Protein Tyrosine Phosphatases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":242,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Wellcome Trust","keywords":"Logistic regression; Artificial intelligence; Contrast (vision); Identification (biology); Support vector machine; Facial recognition system; Computer science; Face (sociological concept); Pattern recognition (psychology); Psychology; Machine learning; Biology","authors":[{"name":"Peter Hammond","is_ca":false},{"name":"Tim J. Hutton","is_ca":false},{"name":"Judith Allanson","is_ca":true},{"name":"Linda Campbell","is_ca":false},{"name":"Raoul C. M. Hennekam","is_ca":false},{"name":"Sean B. Holden","is_ca":false},{"name":"Michael A. Patton","is_ca":false},{"name":"Adam Shaw","is_ca":false},{"name":"I. Karen Temple","is_ca":false},{"name":"Matthew Trotter","is_ca":false},{"name":"Kieran C. Murphy","is_ca":false},{"name":"Robin M. Winter","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.008782374160354947,"gpt":0.2857535774366663,"spread":0.2769712032763114,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003668918,0.0004719232,0.0004114712,0.002479982,0.0001870954,0.0009991936,0.0003048332,0.000413936,0.004362032],"category_scores_gemma":[0.001253758,0.0003339231,0.0007702099,0.00105592,0.0002775691,0.0004791093,0.0007669952,0.0003049562,0.001436033],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002735957,"about_ca_system_score_gemma":0.0003155208,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002515886,"about_ca_topic_score_gemma":0.002874267,"domain_scores_codex":[0.9996562,0.00005350028,0.00001799275,0.00007077773,0.0001707227,0.00003070511],"domain_scores_gemma":[0.9995795,0.0001274825,0.00004320571,0.0001122118,0.0001175605,0.00001990825],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.0002666878,0.00008992154,0.02484582,0.0003115449,0.000207058,0.0006363556,0.0007080869,0.1112527,0.2305537,0.007038427,0.008163775,0.615926],"study_design_scores_gemma":[0.00001920138,0.0001109622,0.06570561,0.00007172224,0.00005693616,0.001545132,0.0003146442,0.8713282,0.03989002,0.00725698,0.01361323,0.00008725971],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"empirical","genre_scores_codex":[0.1530298,0.0004575489,0.8324405,0.0002479521,0.00007580005,0.0001428074,0.003796567,0.003707049,0.006101987],"genre_scores_gemma":[0.7229369,0.0007761044,0.2683897,0.00009120266,0.00004066228,0.0001930992,0.003936235,0.0004086473,0.003227518],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.004362032,"threshold_uncertainty_score":0.01459253,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2017848852","doi":"10.1002/ajmg.a.32023","title":"Newly delineated syndrome of <i>c</i>ongenital <i>l</i>ipomatous <i>o</i>vergrowth, <i>v</i>ascular malformations, and <i>e</i>pidermal nevi (CLOVE syndrome) in seven patients","year":2007,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Vascular Malformations and Hemangiomas","field":"Medicine","cited_by":241,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"National Institutes of Health","keywords":"Proteus syndrome; Medicine; Scoliosis; Anatomy; Pathology; Dermatology; Surgery","authors":[{"name":"Julie C. Sapp","is_ca":false},{"name":"Joyce Turner","is_ca":false},{"name":"Jiddeke M. van de Kamp","is_ca":false},{"name":"Fleur S van Dijk","is_ca":false},{"name":"R. Brian Lowry","is_ca":true},{"name":"Leslie G. Biesecker","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.006274293346575378,"gpt":0.2484548586043887,"spread":0.2421805652578133,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000119832,0.0007200399,0.0003417747,0.001116733,0.0006254054,0.0004125593,0.0002991097,0.0006984726,0.0009422653],"category_scores_gemma":[0.001494729,0.0003363102,0.0001888614,0.0005171706,0.001041529,0.0003620475,0.0006290603,0.0003989312,0.0001182857],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002555782,"about_ca_system_score_gemma":0.0003021256,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001153216,"about_ca_topic_score_gemma":0.001846305,"domain_scores_codex":[0.999718,0.0000385953,0.00003006504,0.00008180371,0.00005746478,0.00007414352],"domain_scores_gemma":[0.9993668,0.0002044411,0.0001732334,0.00004246146,0.00004010864,0.0001729382],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0002497783,0.0001363867,0.3652048,0.00008903954,0.00005829558,0.5828219,0.001759589,0.000531578,0.0287625,0.001219376,0.0007981785,0.01836847],"study_design_scores_gemma":[0.00002506666,0.0001172013,0.06219939,0.000009392345,0.00001769189,0.9351489,0.0002241887,0.0001617153,0.001406053,0.000144606,0.0005291318,0.00001658234],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984508,0.0001953731,0.0003023557,0.00004683255,0.000006147367,0.00001493117,0.00003969706,0.0000166124,0.0009272532],"genre_scores_gemma":[0.999173,0.00009931772,0.0004263076,0.00004101426,0.00001192924,0.00001067458,0.00005858997,0.000004544098,0.0001746049],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001153216,"threshold_uncertainty_score":0.003152192,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2032595730","doi":"10.1002/ajmg.a.30327","title":"Reassessment of the Proteus syndrome literature: Application of diagnostic criteria to published cases","year":2004,"lang":"en","type":"review","venue":"American Journal of Medical Genetics Part A","topic":"Vascular Malformations and Hemangiomas","field":"Medicine","cited_by":238,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Dalhousie University","funders":"","keywords":"Medicine; Proteus syndrome; Etiology; Pediatrics; Incidence (geometry); Medical literature; Diagnostic test; Scoliosis; Intensive care medicine; Surgery; Dermatology; Internal medicine; Pathology","authors":[{"name":"Joyce Turner","is_ca":false},{"name":"M. Michael Cohen","is_ca":true},{"name":"Leslie G. Biesecker","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.02329900400239154,"gpt":0.3695965090676509,"spread":0.3462975050652594,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.03550062,0.0007976081,0.0009656735,0.03923178,0.002180418,0.004717863,0.004737572,0.002123215,0.0008953955],"category_scores_gemma":[0.2282728,0.00062472,0.0009130142,0.01174074,0.004260421,0.004649914,0.002965092,0.001324664,0.0007025235],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001567912,"about_ca_system_score_gemma":0.001154468,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001201685,"about_ca_topic_score_gemma":0.001669837,"domain_scores_codex":[0.9610023,0.01088572,0.018847,0.001465538,0.006791312,0.001008129],"domain_scores_gemma":[0.6394174,0.2007171,0.05932824,0.03414848,0.06381153,0.002577174],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"systematic_review","study_design_scores_codex":[0.0003723418,0.0002104628,0.5818111,0.005418802,0.0004059141,0.1281874,0.03255921,0.0007481377,0.01267413,0.00434316,0.01104256,0.2222268],"study_design_scores_gemma":[0.00007627428,0.000482244,0.2801525,0.008290912,0.001087688,0.5097266,0.02489039,0.003867946,0.01774124,0.005976874,0.1473794,0.0003280117],"study_design_candidate":"systematic_review","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"review","genre_scores_codex":[0.878094,0.07746866,0.01252768,0.01080468,0.005106805,0.0004003048,0.0005886185,0.0004271541,0.01458199],"genre_scores_gemma":[0.9478621,0.02470178,0.01658614,0.003141436,0.005600594,0.0002387487,0.001006192,0.0001502482,0.0007127874],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.03923178,"threshold_uncertainty_score":0.1877474,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2055950761","doi":"10.1002/ajmg.a.30560","title":"An epidemiological analysis of CHARGE syndrome: Preliminary results from a Canadian study","year":2005,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Congenital Ear and Nasal Anomalies","field":"Medicine","cited_by":236,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true},"ca_institutions":"London Health Sciences Centre; Western University; Izaak Walton Killam Health Centre; Dalhousie University","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institutes of Health; National Institute of General Medical Sciences; CNIB; Cedars-Sinai Medical Center; Baker Foundation","keywords":"CHARGE syndrome; Medicine; Ventriculomegaly; Etiology; Pediatrics; Epidemiology; Ductus arteriosus; Swallowing; Internal medicine; Surgery; Psychiatry","authors":[{"name":"Karina A. Issekutz","is_ca":true},{"name":"John M. Graham","is_ca":false},{"name":"Chitra Prasad","is_ca":true},{"name":"Isabel M. Smith","is_ca":true},{"name":"Kim Blake","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.02691731109605854,"gpt":0.3270572830428731,"spread":0.3001399719468146,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001601014,0.0007881547,0.0006761482,0.003575923,0.004477196,0.001654222,0.001549237,0.0009119914,0.001915927],"category_scores_gemma":[0.004783596,0.0006613413,0.001080393,0.009669933,0.0007862232,0.0004828711,0.00170638,0.001055815,0.0002453772],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.01735426,"about_ca_system_score_gemma":0.01793206,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9866074,"about_ca_topic_score_gemma":0.9846532,"domain_scores_codex":[0.9978108,0.0002868857,0.0001412337,0.0003046079,0.0008835607,0.0005729909],"domain_scores_gemma":[0.9953093,0.0002967315,0.0006623745,0.0002110754,0.002518405,0.001002137],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001008704,0.00004650228,0.9943296,0.00003851834,0.00007707919,0.000161866,0.001119313,0.00006620921,0.000121206,0.00007957435,0.0006762129,0.00318297],"study_design_scores_gemma":[0.00001041949,0.00003976661,0.9983113,0.0000164044,0.00003280034,0.0001010448,0.0007391061,0.0001507134,0.00001369803,0.00001633119,0.0005586925,0.00000972254],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9886003,0.001271795,0.0003778126,0.0005370763,0.00001645837,0.0001868967,0.005373834,0.00002232118,0.003613358],"genre_scores_gemma":[0.9938641,0.00159654,0.0007763014,0.0002487968,0.00001775454,0.00008366412,0.002731394,0.00001340418,0.000668113],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01735426,"threshold_uncertainty_score":0.1259145,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2016172156","doi":"10.1002/ajmg.a.31195","title":"Reporting genetic results in research studies: Summary and recommendations of an NHLBI working group","year":2006,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":216,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"McGill University","funders":"National Institutes of Health","keywords":"Medicine; Asymptomatic; Disease; Genetic testing; Family medicine; Psychological intervention; Pathology; Internal medicine; Psychiatry","authors":[{"name":"Ebony Bookman","is_ca":false},{"name":"Aleisha A. Langehorne","is_ca":false},{"name":"John H. Eckfeldt","is_ca":false},{"name":"Kathleen Cranley Glass","is_ca":true},{"name":"Gail P. Jarvik","is_ca":false},{"name":"Michael J. Klag","is_ca":false},{"name":"Greg Koski","is_ca":false},{"name":"Arno G. Motulsky","is_ca":false},{"name":"Benjamin S. Wilfond","is_ca":false},{"name":"Teri A. Manolio","is_ca":false},{"name":"Richard R. Fabsitz","is_ca":false},{"name":"Russell V. Luepker","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.09912704153994678,"gpt":0.4389043420479791,"spread":0.3397773005080323,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":["metaresearch"],"consensus_categories":["metaresearch"],"category_scores_codex":[0.354012,0.004398112,0.008521453,0.01939225,0.005363795,0.01174918,0.01940801,0.03463288,0.004697606],"category_scores_gemma":[0.4449105,0.005517015,0.00956056,0.021599,0.006654581,0.01049035,0.008634544,0.02722998,0.009003845],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.007479876,"about_ca_system_score_gemma":0.04574152,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.03228791,"about_ca_topic_score_gemma":0.02579514,"domain_scores_codex":[0.6430293,0.1298215,0.1494293,0.007874466,0.06412116,0.005724126],"domain_scores_gemma":[0.3428974,0.2399344,0.0592684,0.02927002,0.3117393,0.01689054],"domain_codex":null,"domain_gemma":"reporting","domain_candidate":"reporting","domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.000494076,0.0003929612,0.009233109,0.01633398,0.0007021108,0.0008771474,0.002034455,0.001705406,0.001459045,0.005867584,0.770459,0.1904411],"study_design_scores_gemma":[0.001165034,0.0005799342,0.02156088,0.07857098,0.002869989,0.0009065177,0.003058454,0.003766183,0.0026731,0.01639654,0.8678126,0.0006398173],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"methods","genre_scores_codex":[0.003153921,0.08046697,0.08947194,0.6895779,0.06150298,0.02997078,0.0152681,0.003444796,0.02714266],"genre_scores_gemma":[0.01304001,0.08458497,0.5539728,0.2645448,0.01533667,0.04164003,0.01055466,0.001144459,0.01518165],"genre_candidate":"methods","genre_consensus":null,"teacher_disagreement_score":0.645988,"threshold_uncertainty_score":0.7966182,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2116414062","doi":"10.1002/ajmg.a.34074","title":"Spectrum of <i>MLL2</i> (<i>ALR</i>) mutations in 110 cases of Kabuki syndrome","year":2011,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":196,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Health Sciences Centre","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Environmental Health Sciences; National Institute of Neurological Disorders and Stroke; National Human Genome Research Institute; National Heart, Lung, and Blood Institute; National Institutes of Health","keywords":"Kabuki syndrome; Haploinsufficiency; Frameshift mutation; Genetics; Mutation; Nonsense mutation; Biology; Gene; Phenotype; Missense mutation","authors":[{"name":"Mark Hannibal","is_ca":false},{"name":"Kati J. Buckingham","is_ca":false},{"name":"Sarah Ng","is_ca":false},{"name":"Jeffrey E. Ming","is_ca":false},{"name":"Anita E. Beck","is_ca":false},{"name":"Margaret J. McMillin","is_ca":false},{"name":"Heidi Gildersleeve","is_ca":false},{"name":"Abigail W. Bigham","is_ca":false},{"name":"Holly K. Tabor","is_ca":false},{"name":"Heather C. Mefford","is_ca":false},{"name":"Joseph Cook","is_ca":false},{"name":"Koh‐ichiro Yoshiura","is_ca":false},{"name":"Tadashi Matsumoto","is_ca":false},{"name":"Naomichi Matsumoto","is_ca":false},{"name":"Noriko Miyake","is_ca":false},{"name":"Hidefumi Tonoki","is_ca":false},{"name":"Kenji Naritomi","is_ca":false},{"name":"Tadashi Kaname","is_ca":false},{"name":"Toshiro Nagai","is_ca":false},{"name":"Hirofumi Ohashi","is_ca":false},{"name":"Kenji Kurosawa","is_ca":false},{"name":"Jia‐Woei Hou","is_ca":false},{"name":"Tohru Ohta","is_ca":false},{"name":"Deshung Liang","is_ca":false},{"name":"Akira Sudo","is_ca":false},{"name":"Colleen A. Morris","is_ca":false},{"name":"Siddharth Banka","is_ca":true},{"name":"Graeme C. Black","is_ca":true},{"name":"Jill Clayton‐Smith","is_ca":true},{"name":"Deborah A. Nickerson","is_ca":false},{"name":"Elaine H. Zackai","is_ca":false},{"name":"Tamim H. Shaikh","is_ca":false},{"name":"Dian Donnai","is_ca":true},{"name":"Norio Niikawa","is_ca":false},{"name":"Jay Shendure","is_ca":false},{"name":"Michael J. Bamshad","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01397762321140022,"gpt":0.2567045010921233,"spread":0.2427268778807231,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003528829,0.0007693407,0.0004259544,0.002519868,0.0006338091,0.0006538813,0.0004822279,0.0005251424,0.001090463],"category_scores_gemma":[0.002425306,0.0004753706,0.0003120539,0.0009481662,0.0009947527,0.0003149666,0.0009304388,0.0002496482,0.0003237891],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004985808,"about_ca_system_score_gemma":0.0002218989,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003540777,"about_ca_topic_score_gemma":0.0026732,"domain_scores_codex":[0.9992704,0.00008923091,0.0001190178,0.0001527188,0.0002193765,0.0001492106],"domain_scores_gemma":[0.9994712,0.0001746413,0.0001498776,0.00003365408,0.00005708457,0.0001135129],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003046696,0.00009991974,0.9118767,0.00006474774,0.00009474675,0.03262447,0.001981816,0.0003679582,0.03923213,0.0001828922,0.0005773524,0.01259266],"study_design_scores_gemma":[0.00003991715,0.000223612,0.900116,0.00003824905,0.00011456,0.08947849,0.0007388876,0.0005813151,0.006395854,0.0001905591,0.002049791,0.00003266988],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998552,0.0003026628,0.0001131162,0.00002214099,0.000002921795,0.000008333237,0.0001063252,0.00002727976,0.0008651711],"genre_scores_gemma":[0.9991521,0.0002549038,0.0002040551,0.00002872846,0.000004302948,0.00001082523,0.0002056799,0.00001264106,0.0001268863],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003540777,"threshold_uncertainty_score":0.007040322,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2075303273","doi":"10.1002/ajmg.a.31740","title":"Microarray‐based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics","year":2007,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":189,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"North York General Hospital","funders":"","keywords":"Comparative genomic hybridization; Biology; Cytogenetics; Molecular cytogenetics; Copy-number variation; Gene duplication; Somatic cell; Chromosome; Genetics; Karyotype; Genome; Gene","authors":[{"name":"Sau Wai Cheung","is_ca":false},{"name":"Chad A. Shaw","is_ca":false},{"name":"Daryl A. Scott","is_ca":false},{"name":"Ankita Patel","is_ca":false},{"name":"Trilochan Sahoo","is_ca":false},{"name":"Carlos A. Bacino","is_ca":false},{"name":"Amber N. Pursley","is_ca":false},{"name":"Jiangzhen Li","is_ca":false},{"name":"Robert P. Erickson","is_ca":false},{"name":"Andrea Gropman","is_ca":false},{"name":"David T. Miller","is_ca":false},{"name":"Margretta R. Seashore","is_ca":false},{"name":"Anne Summers","is_ca":true},{"name":"Paweł Stankiewicz","is_ca":false},{"name":"A. Craig Chinault","is_ca":false},{"name":"James R. Lupski","is_ca":false},{"name":"Arthur L. Beaudet","is_ca":false},{"name":"V. Reid Sutton","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.008827799233224144,"gpt":0.2584964739003212,"spread":0.249668674667097,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002107888,0.0002964779,0.0003170859,0.0006673959,0.0001441364,0.0002059061,0.0001839232,0.0003675712,0.001412032],"category_scores_gemma":[0.0008024288,0.0001182554,0.0001082874,0.0004931138,0.0002220678,0.0001349037,0.0001381101,0.0002544275,0.000380996],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001675107,"about_ca_system_score_gemma":0.00009844951,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004545485,"about_ca_topic_score_gemma":0.0008470748,"domain_scores_codex":[0.99972,0.00006650709,0.00001603622,0.00009027409,0.00006844271,0.00003865597],"domain_scores_gemma":[0.9998141,0.0001051197,0.00002648614,0.00001960417,0.000018879,0.00001592726],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0001902142,0.00003141983,0.01858188,0.00004335557,0.00002053462,0.0002824279,0.00005476336,0.0003161504,0.9665024,0.0002127058,0.0003520941,0.01341199],"study_design_scores_gemma":[0.00004593731,0.0007735054,0.1992835,0.0000125915,0.00008311519,0.005618449,0.0001669621,0.01184175,0.7746598,0.0008560831,0.006631069,0.00002724809],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9833998,0.0007131935,0.01327916,0.0001838878,0.00002952938,0.0000265355,0.0005490804,0.0002420198,0.001576763],"genre_scores_gemma":[0.9806943,0.0003641462,0.01723486,0.00008419948,0.00001890807,0.00004569524,0.0006716429,0.00001520168,0.0008709827],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001412032,"threshold_uncertainty_score":0.004723728,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2062811638","doi":"10.1002/ajmg.a.20496","title":"GTF2I hemizygosity implicated in mental retardation in Williams syndrome: Genotype–phenotype analysis of five families with deletions in the Williams syndrome region","year":2003,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Williams Syndrome Research","field":"Neuroscience","cited_by":186,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"University of Toronto","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke","keywords":"Williams syndrome; Haploinsufficiency; Supravalvular aortic stenosis; Phenotype; Genetics; Biology; Gene; Psychology; Cognition; Medicine; Neuroscience; Internal medicine; Stenosis","authors":[{"name":"Colleen A. Morris","is_ca":false},{"name":"Carolyn Β. Mervis","is_ca":false},{"name":"Holly H. Hobart","is_ca":false},{"name":"Ronald G. Gregg","is_ca":false},{"name":"Jacquelyn Bertrand","is_ca":false},{"name":"Gregory J. Ensing","is_ca":false},{"name":"Annemarie Sommer","is_ca":false},{"name":"Cynthia A. Moore","is_ca":false},{"name":"Robert J. Hopkin","is_ca":false},{"name":"Patricia Spallone","is_ca":false},{"name":"Mark T. Keating","is_ca":false},{"name":"Lucy R. Osborne","is_ca":true},{"name":"Kendra W. Kimberley","is_ca":false},{"name":"A.D. Stock","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.02574784128460714,"gpt":0.2997816988951309,"spread":0.2740338576105238,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000177441,0.001077414,0.0004264013,0.001454971,0.0006640918,0.0002927408,0.0002872624,0.0003363746,0.00187866],"category_scores_gemma":[0.000914805,0.0002958894,0.0005121866,0.000611741,0.0007543086,0.0001137621,0.000543763,0.0002203434,0.0001342274],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004013637,"about_ca_system_score_gemma":0.000198728,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00670851,"about_ca_topic_score_gemma":0.005073902,"domain_scores_codex":[0.9996444,0.00007139082,0.00004067718,0.0001063361,0.00006930107,0.00006784203],"domain_scores_gemma":[0.9997035,0.0001015788,0.00006328374,0.0000176137,0.00002490778,0.00008914537],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002063425,0.0007437944,0.6378862,0.0001558435,0.0008271242,0.09665635,0.00638474,0.001787167,0.2331494,0.0009930475,0.0004969499,0.0188561],"study_design_scores_gemma":[0.000128109,0.00110241,0.9154105,0.00003758814,0.0003808795,0.06338277,0.0009856565,0.001660529,0.01519944,0.0001695497,0.001491984,0.00005071784],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9995366,0.00003940812,0.0001457178,0.00000816115,0.000001524008,0.000006287861,0.00005148589,0.000004534019,0.0002062805],"genre_scores_gemma":[0.9995442,0.00004398775,0.0001701945,0.000009548113,0.000002421026,0.000007402744,0.00009340537,0.000003496582,0.0001253998],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00670851,"threshold_uncertainty_score":0.01333892,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2125614047","doi":"10.1002/ajmg.a.32612","title":"Elements of morphology: Standard terminology for the head and face","year":2009,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Craniofacial Disorders and Treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":186,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"National Institutes of Health","keywords":"Terminology; Standardization; Face (sociological concept); Morphology (biology); Field (mathematics); Computer science; Psychology; Biology; Zoology; Sociology; Linguistics; Mathematics; Social science","authors":[{"name":"Judith Allanson","is_ca":true},{"name":"Christopher Cunniff","is_ca":false},{"name":"H. Eugene Hoyme","is_ca":false},{"name":"Julie McGaughran","is_ca":false},{"name":"Maximilian Muenke","is_ca":false},{"name":"Giovanni Neri","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01316201126324694,"gpt":0.3226061857722927,"spread":0.3094441745090457,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.003673526,0.002037274,0.001378224,0.01000404,0.002031941,0.004036511,0.003278627,0.002488043,0.009755649],"category_scores_gemma":[0.008474113,0.0004839667,0.001324583,0.006988455,0.006878121,0.003971391,0.003149778,0.006005548,0.009692097],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001795248,"about_ca_system_score_gemma":0.003231752,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003495166,"about_ca_topic_score_gemma":0.004718044,"domain_scores_codex":[0.9955779,0.001392492,0.001332748,0.0003305752,0.001170581,0.0001956908],"domain_scores_gemma":[0.996192,0.001282789,0.0006677985,0.000516802,0.001077763,0.0002629263],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"theoretical_or_conceptual","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0002531871,0.00007954507,0.002086585,0.00273118,0.00006614648,0.001909154,0.005165061,0.0008359312,0.008394878,0.3707624,0.327511,0.2802048],"study_design_scores_gemma":[0.00001324012,0.00004748201,0.002551177,0.0008382979,0.00002550162,0.008063447,0.0007804595,0.0004136736,0.0006881343,0.0430566,0.9434699,0.00005209927],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.01711592,0.1610655,0.4810902,0.0331118,0.02944586,0.002628126,0.01185111,0.00441653,0.259275],"genre_scores_gemma":[0.08945083,0.07206696,0.7554832,0.01351575,0.00794404,0.004038085,0.008625096,0.003573799,0.04530222],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.01000404,"threshold_uncertainty_score":0.03263587,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2161709080","doi":"10.1002/ajmg.a.31862","title":"Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia","year":2008,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":176,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Institute on Aging","keywords":"Frontotemporal dementia; Medicine; Muscular dystrophy; Myopathy; Pathology; Progressive muscular atrophy; Amyotrophic lateral sclerosis; Dementia; Disease; Internal medicine","authors":[{"name":"Virginia Kimonis","is_ca":false},{"name":"Sarju Mehta","is_ca":false},{"name":"Erin Fulchiero","is_ca":false},{"name":"Dana Thomasová","is_ca":false},{"name":"Marzia Pasquali","is_ca":false},{"name":"Kym M. Boycott","is_ca":true},{"name":"Edward Neilan","is_ca":false},{"name":"Alex Kartashov","is_ca":false},{"name":"Mark S. Forman","is_ca":false},{"name":"Stuart K. Tucker","is_ca":false},{"name":"Katerina Kimonis","is_ca":false},{"name":"Steven Mumm","is_ca":false},{"name":"Michael P. Whyte","is_ca":false},{"name":"Charles D. Smith","is_ca":false},{"name":"Giles D. Watts","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.1044367727853857,"gpt":0.3995543096080118,"spread":0.2951175368226261,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006720328,0.0005511711,0.0004874501,0.001541086,0.0008328628,0.0003965737,0.0002459609,0.0005338523,0.001224712],"category_scores_gemma":[0.004573836,0.000238551,0.000265753,0.0008411674,0.0005261532,0.0003076011,0.000521105,0.0002474966,0.000340751],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003528753,"about_ca_system_score_gemma":0.0002039514,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003051232,"about_ca_topic_score_gemma":0.002650435,"domain_scores_codex":[0.9992004,0.0002262193,0.0001296412,0.000179849,0.0001293471,0.0001345426],"domain_scores_gemma":[0.9984395,0.0006206721,0.00031995,0.00006354957,0.0002543693,0.0003019679],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007505214,0.0002266658,0.8939738,0.0001148417,0.00008834321,0.07965177,0.002654854,0.0001851071,0.01400872,0.0001188579,0.0007038013,0.00752286],"study_design_scores_gemma":[0.00003883621,0.0005447242,0.9109335,0.00002656304,0.0000458539,0.08509845,0.0006162546,0.000273934,0.001001631,0.0001002069,0.001304131,0.00001598363],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981242,0.0004282776,0.0001122731,0.00003066308,0.00000619255,0.00001977255,0.0001120749,0.000005882782,0.001160571],"genre_scores_gemma":[0.9991862,0.0001448011,0.0001499996,0.0000583083,0.00001142142,0.00001524172,0.0002124257,0.000003670669,0.000217799],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003051232,"threshold_uncertainty_score":0.006066918,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2092382340","doi":"10.1002/ajmg.a.31607","title":"Gastroschisis and associated defects: An international study","year":2007,"lang":"en","type":"review","venue":"American Journal of Medical Genetics Part A","topic":"Congenital Anomalies and Fetal Surgery","field":"Medicine","cited_by":171,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Alberta Children's Hospital; BC Cancer Agency","funders":"Instituto de Salud Carlos III; Centers for Disease Control and Prevention; U.S. Public Health Service; Consejo Nacional de Ciencia y Tecnología","keywords":"Gastroschisis; Etiology; Medicine; Pediatrics; Pathology; Fetus; Biology; Pregnancy; Genetics","authors":[{"name":"Pierpaolo Mastroiacovo","is_ca":false},{"name":"Alessandra Lisi","is_ca":false},{"name":"Eduardo E. Castilla","is_ca":false},{"name":"María‐Luisa Martínez‐Frías","is_ca":false},{"name":"Eva Bermejo","is_ca":false},{"name":"Lisa K. Marengo","is_ca":false},{"name":"Jim Kucik","is_ca":false},{"name":"Csaba Siffel","is_ca":false},{"name":"Jane Halliday","is_ca":false},{"name":"Miriam Gatt","is_ca":false},{"name":"Göran Annerén","is_ca":false},{"name":"Fabrizio Bianchi","is_ca":false},{"name":"M. Aurora Canessa","is_ca":false},{"name":"Ron Danderfer","is_ca":true},{"name":"Hermien E. K. de Walle","is_ca":false},{"name":"John A. Harris","is_ca":false},{"name":"Zhu Li","is_ca":false},{"name":"R. Brian Lowry","is_ca":true},{"name":"Robert McDonell","is_ca":false},{"name":"Paul Merlob","is_ca":false},{"name":"Júlia Métneki","is_ca":false},{"name":"Osvaldo M. Mutchinick","is_ca":false},{"name":"Elisabeth Robert‐Gnansia","is_ca":false},{"name":"Gioacchino Scarano","is_ca":false},{"name":"Simone Pötzsch","is_ca":false},{"name":"Elena Szabová","is_ca":false},{"name":"Lyubov Yevtushok","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.05876909403089684,"gpt":0.3933375868123563,"spread":0.3345684927814594,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001189699,0.0003780739,0.0004368007,0.003859578,0.0004827885,0.000831617,0.0003187927,0.0004169326,0.003392239],"category_scores_gemma":[0.002760279,0.0002573605,0.0004882363,0.00514962,0.0004986098,0.001154094,0.0009104151,0.0003723906,0.0004733496],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001735668,"about_ca_system_score_gemma":0.000311833,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002423475,"about_ca_topic_score_gemma":0.001601668,"domain_scores_codex":[0.9989331,0.0003189405,0.0001894832,0.000303186,0.000133844,0.0001214702],"domain_scores_gemma":[0.9969578,0.0006766116,0.001362136,0.0002927557,0.0003070008,0.0004037765],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"systematic_review","study_design_scores_codex":[0.00008954003,0.00004095159,0.9952173,0.00004044192,0.00005262281,0.0002902871,0.0002531335,0.00002830432,0.0001902301,0.00007536389,0.000109428,0.003612414],"study_design_scores_gemma":[0.0000071439,0.0001318177,0.9962887,0.00003358482,0.00004283794,0.001974755,0.0005509458,0.00005832698,0.00005691132,0.00003706569,0.0008120651,0.000005925609],"study_design_candidate":"systematic_review","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"review","genre_scores_codex":[0.9957477,0.001383042,0.0001890466,0.00006293759,0.00001110864,0.00001520734,0.0006888806,0.000004385093,0.001897528],"genre_scores_gemma":[0.9973787,0.001338882,0.0001733187,0.00004096732,0.00003960077,0.00001794517,0.0008487999,0.000004987372,0.0001568836],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.003859578,"threshold_uncertainty_score":0.01134819,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2080401999","doi":"10.1002/ajmg.a.33045","title":"Skeletal abnormalities in neurofibromatosis type 1: Approaches to therapeutic options","year":2009,"lang":"en","type":"review","venue":"American Journal of Medical Genetics Part A","topic":"Neurofibromatosis and Schwannoma Cases","field":"Medicine","cited_by":166,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"University of British Columbia","funders":"Children's Tumor Foundation","keywords":"Neurofibromatosis; Medicine; Natural history; Clinical trial; Bioinformatics; Disease; Neurofibromatosis type 2; Pathology; Intensive care medicine; Internal medicine; Biology","authors":[{"name":"Florent Elefteriou","is_ca":false},{"name":"Mateusz Kolanczyk","is_ca":false},{"name":"Aaron Schindeler","is_ca":false},{"name":"David Viskochil","is_ca":false},{"name":"Janet M. Hock","is_ca":false},{"name":"Elizabeth K. Schorry","is_ca":false},{"name":"Alvin H. Crawford","is_ca":false},{"name":"Jan M. Friedman","is_ca":true},{"name":"David G. Little","is_ca":false},{"name":"Juha Peltonen","is_ca":false},{"name":"John C. Carey","is_ca":false},{"name":"David S. Feldman","is_ca":false},{"name":"Xijie Yu","is_ca":false},{"name":"Linlea Armstrong","is_ca":true},{"name":"Patricia Birch","is_ca":true},{"name":"David L. Kendler","is_ca":true},{"name":"Stefan Mundlos","is_ca":false},{"name":"Feng‐Chun Yang","is_ca":false},{"name":"Gina Agiostratidou","is_ca":false},{"name":"Kim Hunter‐Schaedle","is_ca":false},{"name":"David A. Stevenson","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.1682856567782863,"gpt":0.3580318029327847,"spread":0.1897461461544984,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006724477,0.0008957603,0.001727205,0.003805195,0.0004141157,0.0009321283,0.001108709,0.001586647,0.003203097],"category_scores_gemma":[0.00091364,0.0002627561,0.0004228915,0.002342855,0.0007920578,0.001592572,0.0005881764,0.001841204,0.002281729],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006550798,"about_ca_system_score_gemma":0.0008046205,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001060276,"about_ca_topic_score_gemma":0.0027259,"domain_scores_codex":[0.9997725,0.00005116106,0.00004212674,0.00003095479,0.00008756695,0.0000157143],"domain_scores_gemma":[0.9996321,0.0001973656,0.00005630362,0.00001371117,0.00006548673,0.00003504731],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00005428658,0.00009838939,0.0002441034,0.007915002,0.00005242807,0.001604301,0.00008678462,0.0004503729,0.001233091,0.003530227,0.02823005,0.9565011],"study_design_scores_gemma":[0.00004178211,0.0001212094,0.001615172,0.006758785,0.0001266276,0.01746814,0.0002600405,0.0001601428,0.000478155,0.004579412,0.9683537,0.0000367819],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0001264496,0.9978036,0.0001516711,0.0005234494,0.0001587665,0.000003954704,0.000006313972,0.000009125469,0.001216707],"genre_scores_gemma":[0.0008315609,0.9978228,0.0003487233,0.0002561732,0.000244164,0.000006435429,0.00001320413,0.00000147546,0.0004755606],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.003805195,"threshold_uncertainty_score":0.01071543,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2054046372","doi":"10.1002/ajmg.a.20190","title":"Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease","year":2003,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":162,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Foothills Medical Centre; University of British Columbia","funders":"National Institute of Neurological Disorders and Stroke","keywords":"Trinucleotide repeat expansion; Huntington's disease; Allele; Cohort; Age of onset; Disease; Internal medicine; Biology; Genetics; Medicine; Gene","authors":[{"name":"Luc Djoussé","is_ca":false},{"name":"Beth A. Knowlton","is_ca":false},{"name":"Michael R. Hayden","is_ca":true},{"name":"E. Almqvist","is_ca":true},{"name":"Ryan R. Brinkman","is_ca":true},{"name":"Christopher A. Ross","is_ca":false},{"name":"Russel L. Margolis","is_ca":false},{"name":"Adam Rosenblatt","is_ca":false},{"name":"Alexandra Dürr","is_ca":false},{"name":"Catherine Dodé","is_ca":false},{"name":"Patrick J. Morrison","is_ca":false},{"name":"Andrea Novelletto","is_ca":false},{"name":"Marina Frontali","is_ca":false},{"name":"R J Trent","is_ca":false},{"name":"Elizabeth McCusker","is_ca":false},{"name":"E. Gómez‐Tortosa","is_ca":false},{"name":"David J. Mayo","is_ca":false},{"name":"Randi Jones","is_ca":false},{"name":"Andrea Zanko","is_ca":false},{"name":"Martha Nance","is_ca":false},{"name":"R. Abramson","is_ca":false},{"name":"Oksana Suchowersky","is_ca":true},{"name":"Jane S. Paulsen","is_ca":false},{"name":"Madeline Harrison","is_ca":false},{"name":"Qiong Yang","is_ca":false},{"name":"L. Adrienne Cupples","is_ca":false},{"name":"James F. Gusella","is_ca":false},{"name":"Marcy E. MacDonald","is_ca":false},{"name":"Richard H. Myers","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.02439513835784222,"gpt":0.3072976328805256,"spread":0.2829024945226833,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009140783,0.0004908656,0.000397587,0.0006788022,0.0003428996,0.0006470738,0.0004784794,0.0005177773,0.001806613],"category_scores_gemma":[0.00395691,0.0002760289,0.0005694504,0.00042025,0.0004170241,0.0002561732,0.0005419519,0.0005747336,0.00020155],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002476767,"about_ca_system_score_gemma":0.0003484898,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006285216,"about_ca_topic_score_gemma":0.00666799,"domain_scores_codex":[0.9983942,0.0007622488,0.00008692664,0.0003947034,0.0002266003,0.0001353348],"domain_scores_gemma":[0.9967404,0.001666688,0.000678805,0.0003044608,0.0001504782,0.0004592317],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008304621,0.0001446175,0.9872692,0.000009749674,0.0004647499,0.0004930156,0.0002747359,0.0001645264,0.00632464,0.0001162413,0.0001361779,0.003771957],"study_design_scores_gemma":[0.000004001016,0.00009986013,0.9990178,0.000002776362,0.00007848839,0.0001569661,0.00004064421,0.0002928063,0.0001943116,0.00004361293,0.00006428752,0.000004385988],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991326,0.0001378904,0.0001958356,0.00003648122,0.000007870853,0.000002720662,0.00009760229,0.000007984438,0.0003810765],"genre_scores_gemma":[0.999347,0.0000514219,0.0001390204,0.0000116185,0.000007972949,0.000002708288,0.00009709474,0.000007490542,0.0003355627],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006285216,"threshold_uncertainty_score":0.01249725,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2127795391","doi":"10.1002/ajmg.a.31735","title":"The National Niemann–Pick C1 disease database: Report of clinical features and health problems","year":2007,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":161,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Canadian Institutes of Health Research; University of Alberta","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Institutes of Health","keywords":"Medicine; Pediatrics; Niemann–Pick disease, type C; Ataxia; Disease; NPC1; Jaundice; Hepatosplenomegaly; Dysphagia; Cerebral palsy; Surgery; Internal medicine; Physical therapy; Psychiatry","authors":[{"name":"William S. Garver","is_ca":false},{"name":"Gordon A. Francis","is_ca":true},{"name":"David Jelínek","is_ca":false},{"name":"G. W. Shepherd","is_ca":false},{"name":"James M. Flynn","is_ca":false},{"name":"Graciela Castro","is_ca":false},{"name":"Cate Walsh Vockley","is_ca":false},{"name":"Donald L. Coppock","is_ca":false},{"name":"Kathleen M. Pettit","is_ca":false},{"name":"Randy Heidenreich","is_ca":false},{"name":"F. John Meaney","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.0903036147776431,"gpt":0.4719888374192925,"spread":0.3816852226416494,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009173283,0.0002889139,0.0007463707,0.004086701,0.000529594,0.0005679083,0.00052207,0.0004091208,0.004752042],"category_scores_gemma":[0.003573788,0.0001671619,0.0002414654,0.006866515,0.0001394072,0.0006198841,0.0007592544,0.0003797126,0.00145009],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000838007,"about_ca_system_score_gemma":0.001029828,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01662629,"about_ca_topic_score_gemma":0.01517119,"domain_scores_codex":[0.9989434,0.0002061958,0.0003122765,0.0001801732,0.0002306319,0.0001273516],"domain_scores_gemma":[0.9966486,0.0004425362,0.001336475,0.0001634375,0.0009171405,0.0004917789],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003393977,0.0001377401,0.9442683,0.000506781,0.0001122171,0.0002988472,0.0003147789,0.0002207576,0.0004372231,0.0001880039,0.04136918,0.01180679],"study_design_scores_gemma":[0.00003560046,0.00004503158,0.9839566,0.00008481555,0.00003061673,0.0004906635,0.000253015,0.0002255562,0.0001626548,0.00004109595,0.01465846,0.00001595754],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"dataset","genre_gemma":"empirical","genre_scores_codex":[0.3764841,0.00164377,0.0004961861,0.0003879879,0.00004102418,0.0007866652,0.6069995,0.00008671876,0.01307406],"genre_scores_gemma":[0.4697104,0.002138583,0.001984292,0.0003801027,0.00006424239,0.001430056,0.5213445,0.00004009434,0.002907638],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.01662629,"threshold_uncertainty_score":0.03305906,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2064446902","doi":"10.1002/ajmg.a.35554","title":"“I want to know what's in Pandora's box”: Comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing","year":2012,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":160,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Université Laval; University of British Columbia","funders":"","keywords":"Beneficence; Autonomy; Stakeholder; Test (biology); Focus group; Genetic testing; Relevance (law); Economic Justice; Health care; Psychology; Medicine; Public relations; Political science; Sociology","authors":[{"name":"Anne Townsend","is_ca":true},{"name":"Shelin Adam","is_ca":true},{"name":"Patricia Birch","is_ca":true},{"name":"Zoe Lohn","is_ca":true},{"name":"François Rousseau","is_ca":true},{"name":"Jan M. Friedman","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.03636231541809547,"gpt":0.3264954466024226,"spread":0.2901331311843271,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.06767974,0.0005228738,0.0006226206,0.001821224,0.01145843,0.007853462,0.001642284,0.004438628,0.002362608],"category_scores_gemma":[0.09779979,0.0006319191,0.000905268,0.001044388,0.01586153,0.01043001,0.01292513,0.007204342,0.0004439223],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.006475636,"about_ca_system_score_gemma":0.008187949,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007366711,"about_ca_topic_score_gemma":0.008479015,"domain_scores_codex":[0.9235801,0.0644423,0.001675704,0.001423262,0.004488327,0.004390351],"domain_scores_gemma":[0.9050669,0.07530683,0.006744525,0.001578744,0.006548742,0.004754202],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"qualitative","study_design_gemma":"qualitative","study_design_scores_codex":[0.00009482945,0.00005159511,0.00732056,0.0001258727,0.00001828898,0.0005239025,0.9797124,0.00003137985,0.0004935137,0.003076392,0.001671871,0.006879404],"study_design_scores_gemma":[0.00001562132,0.00009261818,0.002932389,0.0002675711,0.00001568008,0.0003010133,0.9892054,0.00007340682,0.0001982986,0.001525799,0.005343038,0.0000291396],"study_design_candidate":"qualitative","study_design_consensus":"qualitative","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9549636,0.0009419328,0.002864803,0.03056137,0.0003541703,0.0001541097,0.0000634899,0.00001489707,0.01008177],"genre_scores_gemma":[0.9864962,0.0006219859,0.001160242,0.0106382,0.00008174362,0.0002069438,0.00003799314,0.0000235926,0.0007331641],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06767974,"threshold_uncertainty_score":0.3579289,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2114996931","doi":"10.1002/ajmg.a.30203","title":"Majewski osteodysplastic primordial dwarfism type II (MOPD II): Natural history and clinical findings","year":2004,"lang":"en","type":"review","venue":"American Journal of Medical Genetics Part A","topic":"Moyamoya disease diagnosis and treatment","field":"Medicine","cited_by":153,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Children's & Women's Health Centre of British Columbia","funders":"","keywords":"Medicine; Short stature; Dwarfism; Microcephaly; Dysplasia; Anatomy; Pediatrics; Pathology; Biology","authors":[{"name":"Judith G. Hall","is_ca":true},{"name":"Christina Flora","is_ca":false},{"name":"Charles I. Scott","is_ca":false},{"name":"Richard M. Pauli","is_ca":false},{"name":"Kimi I. Tanaka","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.04106111036364365,"gpt":0.3718488242538625,"spread":0.3307877138902188,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001036974,0.0005881119,0.0003647388,0.0009627793,0.0003967694,0.0002867524,0.0002834658,0.0004204315,0.001128783],"category_scores_gemma":[0.0007731841,0.0002823168,0.000152592,0.0005316046,0.0004968581,0.0002729323,0.0004200487,0.0003628717,0.0003333302],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001791275,"about_ca_system_score_gemma":0.0001860238,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001374701,"about_ca_topic_score_gemma":0.0008613737,"domain_scores_codex":[0.9998648,0.0000196098,0.00001416201,0.00004591758,0.00002440935,0.00003096134],"domain_scores_gemma":[0.9996742,0.0000600456,0.0001113505,0.00002141186,0.00002132155,0.0001116748],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003782343,0.0001280741,0.854762,0.00008323781,0.0000471094,0.1133348,0.0008106069,0.0003112644,0.01194157,0.0002532184,0.001106095,0.01684394],"study_design_scores_gemma":[0.00002669846,0.0004469382,0.5530918,0.00002824977,0.00002785895,0.443297,0.0003179567,0.0003460867,0.0005673705,0.0002165744,0.001605194,0.00002825285],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"review","genre_scores_codex":[0.9959942,0.001345953,0.0006103618,0.00006064439,0.000008253361,0.00003746121,0.0002562374,0.00003148819,0.001655256],"genre_scores_gemma":[0.9985421,0.0003856889,0.0003215632,0.00005278668,0.00002027023,0.00002042263,0.0002594946,0.000005001196,0.0003928027],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.001374701,"threshold_uncertainty_score":0.003776193,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2088841792","doi":"10.1002/ajmg.a.32599","title":"Elements of morphology: Standard terminology for the ear","year":2009,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Congenital limb and hand anomalies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":151,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"","keywords":"Terminology; Standardization; Morphology (biology); Field (mathematics); Biology; Psychology; Computer science; Pathology; Medicine; Linguistics; Genetics; Mathematics; Pure mathematics; Philosophy","authors":[{"name":"Alasdair G. W. Hunter","is_ca":true},{"name":"Jaime L. Frías","is_ca":false},{"name":"Gabriele Gillessen‐Kaesbach","is_ca":false},{"name":"Helen E. Hughes","is_ca":false},{"name":"Kenneth Lyons Jones","is_ca":false},{"name":"Louise C. Wilson","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01224357400572401,"gpt":0.2986812564338395,"spread":0.2864376824281155,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.005367286,0.002105043,0.001600506,0.01109814,0.002174677,0.005420187,0.003458191,0.003040587,0.007954594],"category_scores_gemma":[0.0122564,0.0005366374,0.001420938,0.008509331,0.00888131,0.00561815,0.00398419,0.007507042,0.009853363],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002080366,"about_ca_system_score_gemma":0.003518054,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002369452,"about_ca_topic_score_gemma":0.002912608,"domain_scores_codex":[0.9932499,0.002270868,0.002114094,0.0004975232,0.0015854,0.0002821717],"domain_scores_gemma":[0.9936645,0.002429782,0.0009959892,0.0008753153,0.001632705,0.0004018203],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"theoretical_or_conceptual","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0002014593,0.00007578385,0.001641467,0.002932861,0.00006579055,0.001704781,0.005850133,0.0008245137,0.00743221,0.4935608,0.2425801,0.2431301],"study_design_scores_gemma":[0.0000128026,0.00004610138,0.001549596,0.0009930263,0.0000249654,0.00637127,0.0008459653,0.000517105,0.0006136986,0.06448175,0.9244847,0.00005897603],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.0115144,0.1600177,0.5786738,0.03627957,0.02888873,0.001758609,0.006390349,0.004465094,0.1720116],"genre_scores_gemma":[0.07324681,0.07223462,0.7905044,0.01492959,0.009883084,0.002940285,0.005156734,0.002991048,0.02811345],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.01109814,"threshold_uncertainty_score":0.02838522,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W1984213681","doi":"10.1002/ajmg.a.36298","title":"Our children are not a diagnosis: The experience of parents who continue their pregnancy after a prenatal diagnosis of trisomy 13 or 18","year":2013,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Ethics and Legal Issues in Pediatric Healthcare","field":"Medicine","cited_by":150,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine; De Veber; Research Canada","funders":"","keywords":"Feeling; Pregnancy; Psychological intervention; Medicine; Family medicine; Psychology; Psychiatry; Pediatrics; Developmental psychology; Social psychology","authors":[{"name":"Jennifer Guon","is_ca":false},{"name":"Benjamin S. Wilfond","is_ca":false},{"name":"Barbara Farlow","is_ca":true},{"name":"Tracy Brazg","is_ca":false},{"name":"Annie Janvier","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.03891856880343464,"gpt":0.3575393885160087,"spread":0.3186208197125741,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002074695,0.0003593945,0.000558727,0.0003306586,0.004730666,0.002591748,0.000543168,0.001193635,0.00193004],"category_scores_gemma":[0.007322154,0.0004484246,0.0004573081,0.0004875649,0.001993408,0.002232153,0.002274934,0.002816253,0.0002987148],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001251061,"about_ca_system_score_gemma":0.001062726,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007476836,"about_ca_topic_score_gemma":0.01134237,"domain_scores_codex":[0.9987369,0.0007058333,0.00005096302,0.0000790218,0.0001652435,0.0002619983],"domain_scores_gemma":[0.9965034,0.001326692,0.0009102207,0.0001212067,0.0002541563,0.000884419],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"qualitative","study_design_gemma":"qualitative","study_design_scores_codex":[0.0002388277,0.0002183356,0.1975847,0.0002473057,0.00009351426,0.0163839,0.7348382,0.00005927327,0.001110882,0.0009324492,0.01054318,0.03774931],"study_design_scores_gemma":[0.0000211747,0.0005031552,0.0806396,0.0002364109,0.00009479032,0.01524782,0.8812744,0.00006064376,0.0003172991,0.0002814,0.02126513,0.00005818959],"study_design_candidate":"qualitative","study_design_consensus":"qualitative","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9933708,0.001834723,0.00008974021,0.002681691,0.0001324337,0.0000101716,0.00003794317,0.000008186996,0.001834371],"genre_scores_gemma":[0.9954239,0.001867828,0.0001396466,0.001486152,0.00004518601,0.00001746273,0.00003757827,0.000008656703,0.0009734703],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007476836,"threshold_uncertainty_score":0.01486665,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2038812644","doi":"10.1002/ajmg.a.36249","title":"Elements of morphology: General terms for congenital anomalies","year":2013,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Congenital Ear and Nasal Anomalies","field":"Medicine","cited_by":150,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"BC Children's Hospital; University of British Columbia; Children's Hospital of Eastern Ontario","funders":"National Institutes of Health","keywords":"Standardization; Morphology (biology); Phenotype; Process (computing); Field (mathematics); Evolutionary biology; Biology; Computational biology; Genetics; Computer science; Gene; Mathematics","authors":[{"name":"Raoul C. M. Hennekam","is_ca":false},{"name":"Leslie G. Biesecker","is_ca":false},{"name":"Judith Allanson","is_ca":true},{"name":"Judith G. Hall","is_ca":true},{"name":"John M. Opitz","is_ca":false},{"name":"I. Karen Temple","is_ca":false},{"name":"John C. Carey","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01627245515302739,"gpt":0.2998923053549159,"spread":0.2836198502018885,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002345779,0.002200897,0.001134221,0.009116746,0.001746592,0.003763241,0.003043235,0.002204152,0.01353626],"category_scores_gemma":[0.006979889,0.0004963006,0.00146093,0.008666391,0.006048829,0.006796962,0.003236263,0.004945951,0.01185634],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001545251,"about_ca_system_score_gemma":0.00247059,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002583083,"about_ca_topic_score_gemma":0.003398179,"domain_scores_codex":[0.9969277,0.0009624437,0.0008286243,0.0003027612,0.0007603282,0.0002182396],"domain_scores_gemma":[0.9963903,0.001719364,0.0006390518,0.0003727986,0.0006685869,0.0002099031],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"theoretical_or_conceptual","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00007919256,0.00004864861,0.001805925,0.001605301,0.00004350068,0.001318182,0.003997376,0.0006420243,0.003961885,0.7047498,0.1530953,0.1286529],"study_design_scores_gemma":[0.000008466161,0.00002263908,0.001132548,0.0004289932,0.00001507714,0.004728954,0.0006831976,0.0003893463,0.0003901384,0.09539133,0.8967726,0.00003669363],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"empirical","genre_scores_codex":[0.01303625,0.1042976,0.5633807,0.01884953,0.0163863,0.001626328,0.01254073,0.005233963,0.2646487],"genre_scores_gemma":[0.09517426,0.05230139,0.7666298,0.01077284,0.007471651,0.002864764,0.01282976,0.002938782,0.04901667],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.01353626,"threshold_uncertainty_score":0.04528326,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2019981271","doi":"10.1002/ajmg.a.33021","title":"Perspectives on<i>RUNX</i>genes: An update","year":2009,"lang":"en","type":"review","venue":"American Journal of Medical Genetics Part A","topic":"Acute Myeloid Leukemia Research","field":"Medicine","cited_by":148,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Dalhousie University","funders":"","keywords":"Biology; RUNX1; Gene silencing; Gene; Genetics; Promoter; Core binding factor; Transcription factor; Molecular biology; Gene expression","authors":[{"name":"M. Michael Cohen","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.0503382508211701,"gpt":0.4160489246285476,"spread":0.3657106738073775,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006689889,0.0009996202,0.001311833,0.002497154,0.0003277374,0.001473652,0.001073765,0.001760631,0.008297875],"category_scores_gemma":[0.001190728,0.0003333166,0.0007110328,0.003009722,0.0006702346,0.002727871,0.0007459793,0.002370735,0.003664589],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007567179,"about_ca_system_score_gemma":0.001120451,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009271367,"about_ca_topic_score_gemma":0.0019745,"domain_scores_codex":[0.999749,0.00003868811,0.00004544649,0.00005752408,0.0000806198,0.00002877992],"domain_scores_gemma":[0.9990522,0.0004214735,0.0001236207,0.00002540838,0.0002447424,0.0001325176],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0002207163,0.00006334727,0.0008419818,0.00735028,0.0001027062,0.000710813,0.00009475215,0.0003419321,0.004118163,0.003852327,0.1839851,0.798318],"study_design_scores_gemma":[0.00001054296,0.00005511391,0.0004437299,0.001010518,0.00006948214,0.001103534,0.00003815474,0.00003607069,0.0002945822,0.00084967,0.9960768,0.00001178123],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.000285541,0.9905258,0.0004571249,0.003233748,0.003051463,0.000004985425,0.0001051404,0.00004058876,0.002295517],"genre_scores_gemma":[0.0008847492,0.9868069,0.000805394,0.003050426,0.005548944,0.00001360605,0.000309321,0.00001503538,0.00256553],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.008297875,"threshold_uncertainty_score":0.02775913,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2096348484","doi":"10.1002/ajmg.a.32957","title":"Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals","year":2009,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":147,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"National Cancer Institute; National Institutes of Health","keywords":"Supernumerary; Natural history; Hearing loss; Pediatrics; Psychomotor learning; Medicine; Audiology; Cognition; Psychiatry; Anatomy; Internal medicine","authors":[{"name":"Melissa T. Carter","is_ca":true},{"name":"Stephanie A. St. Pierre","is_ca":false},{"name":"Elaine H. Zackai","is_ca":false},{"name":"Beverly S. Emanuel","is_ca":false},{"name":"Kym M. Boycott","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01202581152016253,"gpt":0.2958691723831549,"spread":0.2838433608629924,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002489511,0.0004836951,0.0003240494,0.0008912876,0.0004916729,0.0002403503,0.0002027912,0.0003461653,0.001790937],"category_scores_gemma":[0.00173427,0.000160111,0.0001552425,0.000590834,0.0003721272,0.0002617168,0.000796736,0.0002036876,0.0003524749],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001752083,"about_ca_system_score_gemma":0.0002005132,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002218262,"about_ca_topic_score_gemma":0.002038382,"domain_scores_codex":[0.9997012,0.00005498877,0.00004387709,0.00006665505,0.00007498705,0.00005835076],"domain_scores_gemma":[0.9996039,0.000116357,0.00009482732,0.00002182568,0.00004832588,0.0001146786],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002044138,0.0001309679,0.9360981,0.00003742201,0.00002225699,0.03204844,0.00375601,0.0001516854,0.01200894,0.0001590702,0.0004601171,0.01492255],"study_design_scores_gemma":[0.00001200135,0.000190585,0.9512324,0.00001176649,0.00001780769,0.04556753,0.0009633261,0.0001270529,0.0007065787,0.00009702711,0.001060541,0.00001325651],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988521,0.00009707341,0.0001124841,0.00002356646,0.000002474586,0.00001310883,0.00008876004,0.000006421918,0.0008039928],"genre_scores_gemma":[0.9988952,0.0001365484,0.0003667141,0.00003692536,0.000005077884,0.00002744246,0.0001519478,0.000004836612,0.0003751669],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002218262,"threshold_uncertainty_score":0.00599128,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W1992224115","doi":"10.1002/ajmg.a.33206","title":"Overlapping spectra of <i>SMAD4</i> mutations in juvenile polyposis (JP) and JP–HHT syndrome","year":2010,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Tracheal and airway disorders","field":"Medicine","cited_by":147,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"St. Michael's Hospital; Dalhousie University; University of Toronto; Mount Sinai Hospital; Toronto Western Hospital; Izaak Walton Killam Health Centre","funders":"","keywords":"ACVRL1; Mutation; Telangiectasia; Phenotype; Genotype; Medicine; Genetics; Endoglin; Genetic testing; Gene; Internal medicine; Biology; Pathology","authors":[{"name":"Carol J. Gallione","is_ca":false},{"name":"Arthur S. Aylsworth","is_ca":false},{"name":"Jill Beis","is_ca":true},{"name":"Terri Berk","is_ca":true},{"name":"Barbara A. Bernhardt","is_ca":false},{"name":"Robin D. Clark","is_ca":false},{"name":"Carol L. Clericuzio","is_ca":false},{"name":"Cesare Danesino","is_ca":false},{"name":"Joanne M. Drautz","is_ca":false},{"name":"Jeffrey Fahl","is_ca":false},{"name":"Zheng Fan","is_ca":false},{"name":"Marie E. Faughnan","is_ca":true},{"name":"Arupa Ganguly","is_ca":false},{"name":"John Garvie","is_ca":false},{"name":"Katharine Henderson","is_ca":false},{"name":"Usha Kini","is_ca":false},{"name":"Tracey P. Leedom","is_ca":false},{"name":"Mark D. Ludman","is_ca":true},{"name":"Andreas Lux","is_ca":false},{"name":"Melissa Maisenbacher","is_ca":false},{"name":"Sara Mazzucco","is_ca":false},{"name":"Carla Olivieri","is_ca":false},{"name":"Johannes Kristian Ploos van Amstel","is_ca":false},{"name":"Nadia L. Prigoda-Lee","is_ca":true},{"name":"Reed E. Pyeritz","is_ca":false},{"name":"William Reardon","is_ca":false},{"name":"Kirk Vandezande","is_ca":true},{"name":"J. Deane Waldman","is_ca":false},{"name":"Robert I. White","is_ca":false},{"name":"Charles A. Williams","is_ca":false},{"name":"Douglas A. Marchuk","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.008436873760530015,"gpt":0.2712112317732395,"spread":0.2627743580127094,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000360095,0.0005499148,0.0005455524,0.002017475,0.000451402,0.0004557302,0.0002960951,0.0004314191,0.002011068],"category_scores_gemma":[0.001774397,0.0003004656,0.0005352398,0.0008082808,0.0005893211,0.0003253043,0.0006988059,0.0003008778,0.0003244563],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000198564,"about_ca_system_score_gemma":0.0002109911,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008610336,"about_ca_topic_score_gemma":0.0008437101,"domain_scores_codex":[0.9992816,0.00007434617,0.0001542064,0.0001620846,0.0001942369,0.0001335026],"domain_scores_gemma":[0.9988552,0.0003482469,0.0003459862,0.00007458774,0.0001095658,0.0002663738],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008158432,0.0001418952,0.854353,0.00008545158,0.0001583006,0.05989711,0.0007178069,0.000202535,0.07342158,0.0001666749,0.0002350585,0.009804704],"study_design_scores_gemma":[0.00005149432,0.0003304945,0.83552,0.00001741025,0.0001207042,0.1512177,0.0003373075,0.0003477444,0.0109644,0.0001240293,0.0009416556,0.00002709387],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989286,0.0001481475,0.0002541068,0.00001357797,0.000005595121,0.00001400773,0.0001259569,0.00001071751,0.0004991738],"genre_scores_gemma":[0.9990484,0.00009835388,0.0004570141,0.00002992095,0.00001526659,0.00001091406,0.0002021411,0.000008585153,0.0001293317],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002017475,"threshold_uncertainty_score":0.006727695,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W1868305611","doi":"10.1002/ajmg.a.36833","title":"International guidelines for the management and treatment of Morquio A syndrome","year":2014,"lang":"en","type":"review","venue":"American Journal of Medical Genetics Part A","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":139,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"Hospital for Sick Children","funders":"University of California, San Francisco; School of Medicine, New York University; Instituto Nacional de Genética Médica Populacional; Hospital for Sick Children; Universidade Federal do Rio Grande do Sul; Hospital de Clínicas de Porto Alegre; York University; Children’s Hospital of Wisconsin Research Institute; Amicus Therapeutics; BioMarin Pharmaceutical; McGill University; McGill University Health Centre; Murdoch Children's Research Institute; University of Salford Manchester; University of Minnesota; Seattle Children's Research Institute","keywords":"Medicine; Mucopolysaccharidosis; Disease; Intensive care medicine; Pediatrics; Presentation (obstetrics); Internal medicine; Surgery","authors":[{"name":"Christian J. Hendriksz","is_ca":false},{"name":"Kenneth I. Berger","is_ca":false},{"name":"Roberto Giugliani","is_ca":false},{"name":"Paul Harmatz","is_ca":false},{"name":"Christoph Kampmann","is_ca":false},{"name":"William G. Mackenzie","is_ca":false},{"name":"Julian Raiman","is_ca":true},{"name":"Martha Solano Villarreal","is_ca":false},{"name":"Ravi Savarirayan","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.1338764912450569,"gpt":0.4616457448032113,"spread":0.3277692535581544,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001178051,0.0008672085,0.00109321,0.004201941,0.0004460376,0.0008132337,0.001866106,0.001976498,0.00688741],"category_scores_gemma":[0.002409218,0.0002513046,0.001039233,0.002313564,0.0004224803,0.0008479915,0.0008156978,0.001952264,0.004754699],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008766936,"about_ca_system_score_gemma":0.002775204,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002809199,"about_ca_topic_score_gemma":0.004555065,"domain_scores_codex":[0.9991546,0.0001946966,0.0002376711,0.00005059886,0.0003087313,0.00005377875],"domain_scores_gemma":[0.9989561,0.0003016393,0.0001783925,0.00003039182,0.0004630853,0.00007039467],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00005660945,0.0001266303,0.0003498239,0.009405689,0.00007628583,0.0009806384,0.0001419377,0.0003153927,0.001196588,0.004112324,0.2292297,0.7540083],"study_design_scores_gemma":[0.00002575288,0.0000285771,0.0007790229,0.006880973,0.00007711153,0.002172548,0.0000544229,0.00005872448,0.000209036,0.001128591,0.9885704,0.00001481742],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0004348829,0.9728903,0.001900295,0.005503643,0.001765081,0.0002129144,0.0006197559,0.0001260609,0.0165471],"genre_scores_gemma":[0.00257305,0.9758337,0.009365108,0.003327162,0.0007420392,0.0003053893,0.001804731,0.00002700901,0.00602178],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.00688741,"threshold_uncertainty_score":0.02304065,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2067502867","doi":"10.1002/ajmg.a.33857","title":"Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome","year":2011,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Protein Tyrosine Phosphatases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":132,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Hospital for Sick Children; University of Calgary","funders":"","keywords":"Costello syndrome; Pathological; Medicine; MAPK/ERK pathway; Internal medicine; Endocrinology; Genetics; Biology; Kinase","authors":[{"name":"Angela E. Lin","is_ca":false},{"name":"Mark E. Alexander","is_ca":false},{"name":"Steven D. Colan","is_ca":false},{"name":"Bronwyn Kerr","is_ca":false},{"name":"Katherine A. Rauen","is_ca":false},{"name":"Jacqueline A. Noonan","is_ca":false},{"name":"Jeanne M. Baffa","is_ca":false},{"name":"Elizabeth Hopkins","is_ca":false},{"name":"Katia Sol‐Church","is_ca":false},{"name":"Giuseppe Limongelli","is_ca":false},{"name":"M. Cristina Digilio","is_ca":false},{"name":"Bruno Marino","is_ca":false},{"name":"A. Micheil Innes","is_ca":true},{"name":"Yoko Aoki","is_ca":false},{"name":"Michael Silberbach","is_ca":false},{"name":"Marie‐Ange Delrue","is_ca":false},{"name":"Susan M. White","is_ca":false},{"name":"Robert M. Hamilton","is_ca":true},{"name":"William O’Connor","is_ca":false},{"name":"Paul Grossfeld","is_ca":false},{"name":"Leslie Smoot","is_ca":false},{"name":"Robert F. Padera","is_ca":false},{"name":"Karen W. Gripp","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.04796666722043447,"gpt":0.3254209711442313,"spread":0.2774543039237968,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003655346,0.0004237496,0.0002537716,0.001610402,0.0004167727,0.0002767728,0.0002730968,0.0003829927,0.0008538902],"category_scores_gemma":[0.002375338,0.0002138268,0.0001899276,0.0005015119,0.0004623166,0.0002413851,0.0005031,0.000192299,0.0001095357],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002612635,"about_ca_system_score_gemma":0.0002034631,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001806063,"about_ca_topic_score_gemma":0.002170269,"domain_scores_codex":[0.9995552,0.00006552292,0.0000616151,0.00009687945,0.0001356326,0.00008517614],"domain_scores_gemma":[0.9992293,0.0002258378,0.0001954031,0.00004716447,0.0001109854,0.0001912812],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002191391,0.00003641576,0.9769175,0.00002325739,0.00002188107,0.007908449,0.0002830586,0.00006194469,0.01131806,0.00003004677,0.00008787666,0.003092266],"study_design_scores_gemma":[0.00001673964,0.000201237,0.9750285,0.000005599722,0.00001940945,0.02293704,0.0001412569,0.0001817352,0.001257321,0.00002212863,0.0001818951,0.000007210759],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9996499,0.00007923597,0.00005651949,0.000009814049,0.000001041108,0.000006856494,0.0000414396,0.000001868177,0.0001533948],"genre_scores_gemma":[0.9995798,0.00004791368,0.0001997514,0.00001646705,0.000004827903,0.000009297965,0.00009415273,0.000001461196,0.00004618707],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001806063,"threshold_uncertainty_score":0.00359112,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2752787259","doi":"10.1002/ajmg.a.38418","title":"Treating pediatric neuromuscular disorders: The future is now","year":2017,"lang":"en","type":"review","venue":"American Journal of Medical Genetics Part A","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":129,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Western University; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Spinal muscular atrophy; Medicine; Neuromuscular disease; Duchenne muscular dystrophy; Etiology; Neuromuscular transmission; Disease; Muscular dystrophy; Physical medicine and rehabilitation; Pediatrics; Pathology; Internal medicine","authors":[{"name":"James J. Dowling","is_ca":true},{"name":"Hernán Gonorazky","is_ca":true},{"name":"Ronald D. Cohn","is_ca":true},{"name":"Craig Campbell","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.02310871072796216,"gpt":0.3474215870141937,"spread":0.3243128762862316,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006739538,0.0006247611,0.0007784471,0.0009978589,0.0003473638,0.0009134331,0.0005732442,0.001330132,0.004089539],"category_scores_gemma":[0.001086954,0.0001587756,0.0004403054,0.0009796357,0.0005905136,0.002404729,0.0006981755,0.002748968,0.001683728],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005830039,"about_ca_system_score_gemma":0.001008442,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008789058,"about_ca_topic_score_gemma":0.001990842,"domain_scores_codex":[0.9997798,0.00004347885,0.00003578415,0.00003895825,0.00007774842,0.00002438747],"domain_scores_gemma":[0.9992907,0.0003856738,0.00006787206,0.00001919276,0.000179861,0.00005663653],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00004699897,0.00004833164,0.0001635648,0.005650334,0.00003392597,0.0001496235,0.00007128806,0.0002233377,0.0008256545,0.00368541,0.03943172,0.9496699],"study_design_scores_gemma":[0.000009653101,0.00006349423,0.0004930905,0.002426897,0.00005602027,0.001283774,0.00008438593,0.00005817786,0.0001597449,0.002667284,0.9926873,0.00001008244],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0001227274,0.9963465,0.0002032372,0.00169691,0.000635993,0.000002734524,0.00001276606,0.00001350382,0.000965552],"genre_scores_gemma":[0.0008675058,0.9964049,0.0004382563,0.001016375,0.0005641298,0.000004748375,0.00002772727,0.000003537567,0.0006727984],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.004089539,"threshold_uncertainty_score":0.01368088,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2121461794","doi":"10.1002/ajmg.a.32909","title":"Hedgehog signaling update","year":2010,"lang":"en","type":"review","venue":"American Journal of Medical Genetics Part A","topic":"Hedgehog Signaling Pathway Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":129,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Dalhousie University","funders":"","keywords":"Hedgehog; Computer science; Biology; Signal transduction; Cell biology","authors":[{"name":"M. Michael Cohen","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.03243091912031372,"gpt":0.3529947220168774,"spread":0.3205638028965637,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005275953,0.0007067409,0.0004607258,0.001139357,0.000308071,0.001117083,0.0007705938,0.001180518,0.04791391],"category_scores_gemma":[0.00120458,0.000187668,0.0003234846,0.0008543977,0.0002468061,0.001097874,0.0007813192,0.001445082,0.03352626],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007987783,"about_ca_system_score_gemma":0.0009419947,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001495518,"about_ca_topic_score_gemma":0.003684914,"domain_scores_codex":[0.999765,0.00002190883,0.00002631773,0.00003769798,0.0001133221,0.00003576287],"domain_scores_gemma":[0.9995033,0.00007336857,0.00002782495,0.0000295616,0.0002352544,0.0001307281],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001469144,0.0000375393,0.0002942875,0.0006457929,0.00002202799,0.0002193526,0.00001825887,0.00008738859,0.001459547,0.002112711,0.5172343,0.4777219],"study_design_scores_gemma":[0.000007548801,0.00001669896,0.0002424545,0.0001183814,0.0000109195,0.0003922138,0.00000648015,0.00001843773,0.0002214175,0.0002743112,0.9986886,0.00000247136],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.004085964,0.548238,0.003456958,0.03171095,0.07113554,0.0001725164,0.005074779,0.001641111,0.3344842],"genre_scores_gemma":[0.0207555,0.4772584,0.00676034,0.03113526,0.03499364,0.000178768,0.01484917,0.0003710028,0.413698],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.04791391,"threshold_uncertainty_score":0.160288,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2010576506","doi":"10.1002/ajmg.a.34369","title":"Renal anomalies in Alagille syndrome: A disease‐defining feature","year":2011,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Pediatric Hepatobiliary Diseases and Treatments","field":"Medicine","cited_by":125,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"National Institute of Diabetes and Digestive and Kidney Diseases","keywords":"Alagille syndrome; Medicine; Renal dysplasia; Internal medicine; Renal pathology; Gastroenterology; Pathology; Kidney; Cholestasis","authors":[{"name":"Binita M. Kamath","is_ca":true},{"name":"Gisele Podkameni","is_ca":false},{"name":"Anne Hutchinson","is_ca":false},{"name":"Laura D. Leonard","is_ca":false},{"name":"Jennifer Gerfen","is_ca":false},{"name":"Ian D. Krantz","is_ca":false},{"name":"David A. Piccoli","is_ca":false},{"name":"Nancy B. Spinner","is_ca":false},{"name":"Kathleen M. Loomes","is_ca":false},{"name":"Kevin Meyers","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01742870826175701,"gpt":0.2763525650544525,"spread":0.2589238567926955,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007068419,0.0001979902,0.0003993591,0.001112168,0.0003314599,0.0004626781,0.0002860926,0.0003248311,0.0007452044],"category_scores_gemma":[0.003099415,0.0001454545,0.0002024079,0.001033011,0.0004223659,0.0004008938,0.0003984092,0.0002825632,0.0001316615],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000177254,"about_ca_system_score_gemma":0.0004066332,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001638912,"about_ca_topic_score_gemma":0.001808954,"domain_scores_codex":[0.9993504,0.0001376683,0.0001008386,0.00009747415,0.0002456214,0.00006805416],"domain_scores_gemma":[0.9975719,0.0007567444,0.001153681,0.0001202656,0.0001873814,0.0002100314],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00004902608,0.00001419479,0.9801996,0.00006068276,0.00001507232,0.009524459,0.000186828,0.00007412938,0.00248404,0.00007905516,0.0001534774,0.007159539],"study_design_scores_gemma":[0.000003266503,0.0001071412,0.9044505,0.00004521292,0.00003318667,0.0924108,0.0002760029,0.000141982,0.001213792,0.00008008508,0.001231275,0.0000067443],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9953308,0.002939278,0.000503112,0.0001300257,0.000007680246,0.00001537359,0.0002291668,0.00001301467,0.0008315711],"genre_scores_gemma":[0.9984171,0.0009107672,0.0003866025,0.00005162906,0.00001853806,0.000003551676,0.0001202134,0.000002937649,0.00008868289],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001638912,"threshold_uncertainty_score":0.003738165,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2000988406","doi":"10.1002/ajmg.a.30869","title":"A patient with mutations in DNA Ligase IV: Clinical features and overlap with Nijmegen breakage syndrome","year":2005,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"DNA Repair Mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":124,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"National Cancer Institute","keywords":"Nijmegen breakage syndrome; Microcephaly; Mutation; Genetics; Biology; Gene mutation; Medicine; Cancer research; Molecular biology; Gene; DNA; DNA damage; Ataxia-telangiectasia","authors":[{"name":"Tawfeg I. Ben‐Omran","is_ca":true},{"name":"Karen Cerosaletti","is_ca":false},{"name":"Patrick Concannon","is_ca":false},{"name":"Sheila Weitzman","is_ca":true},{"name":"Marjan M. Nezarati","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.006143353556593464,"gpt":0.2722635175931145,"spread":0.2661201640365211,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002252026,0.001767028,0.0009192707,0.001421115,0.001533498,0.0007533406,0.0005377549,0.002563426,0.00251989],"category_scores_gemma":[0.00208237,0.0007126429,0.0003910864,0.0009357883,0.001205018,0.0007984606,0.0009381241,0.001265843,0.0006355797],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005400463,"about_ca_system_score_gemma":0.0006123416,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001923594,"about_ca_topic_score_gemma":0.002291435,"domain_scores_codex":[0.99967,0.00003703688,0.00003649155,0.0001106382,0.00005196616,0.00009390007],"domain_scores_gemma":[0.9993237,0.0002202744,0.0001373228,0.00002795644,0.00003691518,0.0002538199],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00006782435,0.0000430881,0.01614848,0.00004756636,0.00001641756,0.975271,0.0003486178,0.0001168723,0.004548247,0.0001834476,0.000436966,0.002771423],"study_design_scores_gemma":[0.0000169479,0.0001083442,0.01072133,0.000009149162,0.00002585587,0.987003,0.00009033077,0.0001147148,0.0008696798,0.0001546922,0.000872162,0.000013653],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9844504,0.002206671,0.001790144,0.001331585,0.0001228139,0.0001084334,0.0002509173,0.0001706126,0.009568313],"genre_scores_gemma":[0.9961725,0.0007239492,0.0008853953,0.0003358252,0.0001481509,0.00002679454,0.0001080026,0.00002365422,0.001575721],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002563426,"threshold_uncertainty_score":0.008429825,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W1981422164","doi":"10.1002/ajmg.a.32602","title":"Elements of morphology: Standard terminology for the lips, mouth, and oral region","year":2009,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Cleft Lip and Palate Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":123,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Dalhousie University","funders":"","keywords":"Terminology; Standardization; Morphology (biology); Psychology; Evolutionary biology; Biology; Computer science; Genetics; Linguistics","authors":[{"name":"John C. Carey","is_ca":false},{"name":"M. Michael Cohen","is_ca":true},{"name":"Cynthia J. Curry","is_ca":false},{"name":"Koenraad Devriendt","is_ca":false},{"name":"Lewis B. Holmes","is_ca":false},{"name":"Alain Verloès","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.02644343571207276,"gpt":0.3451459609433284,"spread":0.3187025252312556,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00347203,0.001941247,0.001415518,0.008952259,0.001503482,0.003036147,0.002819764,0.001973851,0.006058374],"category_scores_gemma":[0.005899525,0.0004444304,0.001295512,0.006615071,0.005730108,0.003548551,0.002401283,0.00496748,0.006477633],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001278335,"about_ca_system_score_gemma":0.002999438,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00193943,"about_ca_topic_score_gemma":0.002828722,"domain_scores_codex":[0.9964089,0.001064482,0.001192696,0.0002723107,0.0009049121,0.0001567438],"domain_scores_gemma":[0.9966543,0.001038659,0.0007589954,0.0004191623,0.0008805878,0.0002483511],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"theoretical_or_conceptual","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0003939771,0.0001247708,0.004456967,0.004459765,0.000117563,0.002696861,0.007175711,0.001004743,0.02647604,0.3441618,0.2852702,0.3236616],"study_design_scores_gemma":[0.00001970428,0.0001020748,0.005753337,0.0009499128,0.00005253204,0.01211126,0.001161672,0.0005833248,0.00176252,0.04112471,0.9363028,0.00007602126],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.02888696,0.216119,0.5211313,0.03464047,0.03091781,0.001996257,0.008753995,0.004100948,0.1534534],"genre_scores_gemma":[0.09520245,0.07798094,0.7607607,0.01205291,0.007413008,0.0029347,0.007132458,0.002240284,0.03428252],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.008952259,"threshold_uncertainty_score":0.02026725,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2163441749","doi":"10.1002/ajmg.a.20370","title":"Unexpected death and critical illness in Prader–Willi syndrome: Report of ten individuals","year":2003,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":122,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"BC Children's Hospital","funders":"","keywords":"Medicine; Demise; Pediatrics; Adrenal insufficiency; Autopsy; Intensive care medicine; Internal medicine","authors":[{"name":"David A. Stevenson","is_ca":false},{"name":"Theresa M. Anaya","is_ca":false},{"name":"Jill Clayton‐Smith","is_ca":false},{"name":"Bryan D. Hall","is_ca":false},{"name":"Margot I. Van Allen","is_ca":true},{"name":"Roberto T. Zori","is_ca":false},{"name":"Elaine H. Zackai","is_ca":false},{"name":"Gary Frank","is_ca":false},{"name":"Carol L. Clericuzio","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01202047264348013,"gpt":0.2960282721105099,"spread":0.2840077994670297,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002934405,0.0009792023,0.0003780888,0.00127917,0.001532992,0.0005581564,0.0005203283,0.0009475933,0.001330036],"category_scores_gemma":[0.002145099,0.0007005879,0.0004201609,0.000383891,0.001013253,0.0005801186,0.001227193,0.0008487824,0.0003426402],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005238458,"about_ca_system_score_gemma":0.0005577931,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003670646,"about_ca_topic_score_gemma":0.003506809,"domain_scores_codex":[0.9995536,0.00006077724,0.00005529785,0.000110828,0.00007611515,0.0001433458],"domain_scores_gemma":[0.9990921,0.0001588738,0.0002226179,0.00006176171,0.00008402902,0.000380584],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.0002203302,0.0002805178,0.6492519,0.00005973236,0.00006159233,0.3320961,0.003894509,0.0001833211,0.00256166,0.0002086764,0.000916464,0.01026529],"study_design_scores_gemma":[0.00004843793,0.001463886,0.3799623,0.0000574771,0.00008190972,0.6103604,0.002880179,0.0004647836,0.001236956,0.0002268278,0.003125363,0.00009130145],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987844,0.0002158001,0.0002698583,0.00008702301,0.00002108951,0.00002802232,0.00004421068,0.000009589091,0.0005400247],"genre_scores_gemma":[0.9985427,0.0003110968,0.0003519951,0.0000959703,0.00004556487,0.00002600081,0.0001269904,0.000005561583,0.0004940685],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003670646,"threshold_uncertainty_score":0.007298529,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2095451500","doi":"10.1002/ajmg.a.32601","title":"Elements of morphology: Introduction","year":2009,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Congenital limb and hand anomalies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":122,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"National Institutes of Health","keywords":"Standardization; Morphology (biology); Field (mathematics); Engineering ethics; Management science; Psychology; Computer science; Biology; Genetics; Engineering; Mathematics","authors":[{"name":"Judith Allanson","is_ca":true},{"name":"Leslie G. Biesecker","is_ca":false},{"name":"John C. Carey","is_ca":false},{"name":"Raoul C. M. Hennekam","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.006607312124737819,"gpt":0.2696970534394304,"spread":0.2630897413146926,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001383108,0.0008981995,0.0005213202,0.002725634,0.00122549,0.004509619,0.001206203,0.001269197,0.01604588],"category_scores_gemma":[0.002959077,0.0003035823,0.0004210652,0.002022971,0.007377619,0.004832319,0.002260711,0.002566409,0.006048216],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001628777,"about_ca_system_score_gemma":0.001134533,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001706979,"about_ca_topic_score_gemma":0.001610106,"domain_scores_codex":[0.9990134,0.0003347643,0.000140467,0.0001814671,0.0002723847,0.00005753572],"domain_scores_gemma":[0.9985108,0.000611076,0.0001112407,0.0001688472,0.0004404797,0.0001574417],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"theoretical_or_conceptual","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00005239596,0.00002314356,0.001167473,0.000620304,0.00001181929,0.0003395542,0.002507009,0.0004826061,0.0009363998,0.7240346,0.0991236,0.170701],"study_design_scores_gemma":[0.000002477916,0.00002481455,0.001067826,0.0002702145,0.000004334808,0.0009484993,0.0003802479,0.0001560202,0.000106215,0.09037635,0.9066527,0.00001024997],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"other","genre_gemma":"empirical","genre_scores_codex":[0.00886643,0.1444842,0.1123356,0.02880619,0.02125503,0.0003509963,0.002019599,0.0009474959,0.6809345],"genre_scores_gemma":[0.2523628,0.1548551,0.1949011,0.01688487,0.03641679,0.0009764974,0.004053665,0.001364132,0.3381852],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.01604588,"threshold_uncertainty_score":0.05367875,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2523361297","doi":"10.1002/ajmg.a.37940","title":"Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by <i>EP300</i> mutations","year":2016,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Congenital limb and hand anomalies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":122,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"","keywords":"Rubinstein–Taybi syndrome; Biology; Missense mutation; Genetics; Microcephaly; Phenotype; CREB-binding protein; Mutation; Intellectual disability; Gene; Genotype; Transcription factor","authors":[{"name":"Patricia Fergelot","is_ca":false},{"name":"Martine van Belzen","is_ca":false},{"name":"Julien Van‐Gils","is_ca":false},{"name":"Alexandra Afenjar","is_ca":false},{"name":"Christine M. Armour","is_ca":true},{"name":"Benoı̂t Arveiler","is_ca":false},{"name":"Lex Beets","is_ca":false},{"name":"Lydie Bürglen","is_ca":false},{"name":"Tiffany Busa","is_ca":false},{"name":"Marie Collet","is_ca":false},{"name":"Julie Deforges","is_ca":false},{"name":"Bert B.A. de Vries","is_ca":false},{"name":"Elena Garrido","is_ca":false},{"name":"Nathalie Dorison","is_ca":false},{"name":"Juliette Dupont","is_ca":false},{"name":"Christine Francannet","is_ca":false},{"name":"Sixto García‐Miñáur","is_ca":false},{"name":"Elisabeth Gabau Vila","is_ca":false},{"name":"Samuel Gebré‐Medhin","is_ca":false},{"name":"Blanca Gener Querol","is_ca":false},{"name":"David Geneviève","is_ca":false},{"name":"Marion Gérard","is_ca":false},{"name":"Cristina Gervasini","is_ca":false},{"name":"Alice Goldenberg","is_ca":false},{"name":"Dragana Josifova","is_ca":false},{"name":"Katherine Lachlan","is_ca":false},{"name":"Saskia M. Maas","is_ca":false},{"name":"Bruno Maranda","is_ca":false},{"name":"Jukka S. Moilanen","is_ca":false},{"name":"Ann Nordgren","is_ca":false},{"name":"P. Parent","is_ca":false},{"name":"Julia Rankin","is_ca":false},{"name":"William Reardon","is_ca":false},{"name":"Marlène Rio","is_ca":false},{"name":"J. Roume","is_ca":false},{"name":"Adam Shaw","is_ca":false},{"name":"Robert Śmigiel","is_ca":false},{"name":"A Sojo","is_ca":false},{"name":"Benjamin D. Solomon","is_ca":false},{"name":"Agnieszka Stembalska","is_ca":false},{"name":"Constance T. R. M. Stumpel","is_ca":false},{"name":"F J Ortega Suárez","is_ca":false},{"name":"Paulien A. Terhal","is_ca":false},{"name":"Simon Thomas","is_ca":false},{"name":"Renaud Touraine","is_ca":false},{"name":"Alain Verloès","is_ca":false},{"name":"Catherine Vincent‐Delorme","is_ca":false},{"name":"Josephine Wincent","is_ca":false},{"name":"Dorien J.M. Peters","is_ca":false},{"name":"Oliver Bartsch","is_ca":false},{"name":"Lidia Larizza","is_ca":false},{"name":"Didier Lacombe","is_ca":false},{"name":"Raoul C. M. Hennekam","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.00362760302291675,"gpt":0.2124149877304589,"spread":0.2087873847075421,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001498331,0.0008308126,0.0005722212,0.000834252,0.0003835217,0.0003882526,0.0002184692,0.000475401,0.002578702],"category_scores_gemma":[0.001074567,0.0004488441,0.0003669569,0.0003849635,0.0004108022,0.0001850506,0.0003799508,0.0002528047,0.0006092669],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002123408,"about_ca_system_score_gemma":0.0000872988,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00221404,"about_ca_topic_score_gemma":0.001083388,"domain_scores_codex":[0.999728,0.00003107011,0.00004386287,0.00009566837,0.00004626988,0.00005516411],"domain_scores_gemma":[0.9996895,0.00008945224,0.0000780316,0.00003344384,0.00003073654,0.00007883427],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001043329,0.0001577855,0.875659,0.00008130078,0.0001488712,0.06326441,0.002476823,0.0005084221,0.03593503,0.0001414205,0.000747044,0.01983649],"study_design_scores_gemma":[0.0001016565,0.0007310857,0.9038004,0.00003068768,0.0001069895,0.08902722,0.0005168725,0.0004804968,0.00258251,0.0001255789,0.002449724,0.00004686225],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990538,0.0001826143,0.0001613862,0.00002101781,0.000005178829,0.000008736963,0.0001209338,0.00001256733,0.000433706],"genre_scores_gemma":[0.9989846,0.0001226225,0.0001683108,0.00003615709,0.000009441247,0.00001054415,0.0002232144,0.00001209905,0.0004330632],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002578702,"threshold_uncertainty_score":0.00862664,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2987977317","doi":"10.1002/ajmg.a.61399","title":"Healthcare recommendations for Joubert syndrome","year":2019,"lang":"en","type":"review","venue":"American Journal of Medical Genetics Part A","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":121,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Child Health and Human Development; National Institute of Diabetes and Digestive and Kidney Diseases; National Institute of Neurological Disorders and Stroke; Medical Research Council; Medical Research Council Canada; Ministero della Salute; Fondazione Pierfranco e Luisa Mariani; Intramural Research Program; Northern Counties Kidney Research Fund; European Research Council; National Institutes of Health; Kidney Research UK","keywords":"Joubert syndrome; Health care; Medicine; Biology; Genetics; Political science","authors":[{"name":"Ruxandra Bachmann‐Gagescu","is_ca":false},{"name":"Jennifer C. Dempsey","is_ca":false},{"name":"Sara Bulgheroni","is_ca":false},{"name":"Maida L. Chen","is_ca":false},{"name":"Stefano D’Arrigo","is_ca":false},{"name":"Ian A. Glass","is_ca":false},{"name":"Theo Heller","is_ca":false},{"name":"Elise Héon","is_ca":true},{"name":"Friedhelm Hildebrandt","is_ca":false},{"name":"Nirmal Joshi","is_ca":false},{"name":"Dana Knutzen","is_ca":false},{"name":"Hester Y. Kroes","is_ca":false},{"name":"Stephen H. Mack","is_ca":false},{"name":"Sara Nuovo","is_ca":false},{"name":"Melissa A. Parisi","is_ca":false},{"name":"Joseph Snow","is_ca":false},{"name":"Angela C. Summers","is_ca":false},{"name":"Jordan M. Symons","is_ca":false},{"name":"Wadih M. Zein","is_ca":false},{"name":"Eugen Boltshauser","is_ca":false},{"name":"John A. Sayer","is_ca":false},{"name":"Meral Gunay‐Aygun","is_ca":false},{"name":"Enza Maria Valente","is_ca":false},{"name":"Dan Doherty","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.05956643393124729,"gpt":0.4001995463884659,"spread":0.3406331124572186,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001085288,0.0006928133,0.0008906052,0.002453906,0.0005171014,0.001100007,0.001712786,0.003792731,0.05370505],"category_scores_gemma":[0.006418976,0.0002747348,0.0009978499,0.001619489,0.0002811181,0.00143203,0.001269889,0.003016989,0.02762718],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00139175,"about_ca_system_score_gemma":0.002868739,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008554484,"about_ca_topic_score_gemma":0.01549502,"domain_scores_codex":[0.9992925,0.0001656053,0.0001250533,0.00005584653,0.0002833714,0.00007755438],"domain_scores_gemma":[0.9980598,0.0005683175,0.0002114311,0.00004775858,0.0009056688,0.0002069805],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00001622094,0.00002536335,0.0000660927,0.002344225,0.00001368417,0.0001203606,0.00003190105,0.00005171499,0.00008286587,0.001830414,0.7131669,0.2822503],"study_design_scores_gemma":[0.00001205217,0.000008783324,0.0002504212,0.003827862,0.0000137792,0.0002191152,0.00002416761,0.00001210286,0.00001922049,0.0005587839,0.9950473,0.000006349268],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0004198003,0.7902656,0.002086734,0.08544657,0.01810508,0.0004357148,0.004173813,0.0008839464,0.0981828],"genre_scores_gemma":[0.00290232,0.8465223,0.00830764,0.06054994,0.00509384,0.0007250254,0.006976489,0.0001137897,0.0688087],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.05370505,"threshold_uncertainty_score":0.1796613,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2049797125","doi":"10.1002/ajmg.a.35502","title":"Genotype–phenotype analysis of 4q deletion syndrome: Proposal of a critical region","year":2012,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":121,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"University of British Columbia","funders":"Howard Hughes Medical Institute","keywords":"Phenotype; Genetics; Craniofacial; Biology; Genotype; Gene; Genotype-phenotype distinction; Chromosome","authors":[{"name":"Eugen‐Matthias Strehle","is_ca":false},{"name":"Linbo Yu","is_ca":false},{"name":"Jill A. Rosenfeld","is_ca":false},{"name":"Sandra Donkervoort","is_ca":false},{"name":"Yulin Zhou","is_ca":false},{"name":"Tianjian Chen","is_ca":false},{"name":"José E. Martínez","is_ca":false},{"name":"Yao‐Shan Fan","is_ca":false},{"name":"Deborah Barbouth","is_ca":false},{"name":"Hongbo Zhu","is_ca":false},{"name":"Alicia Vaglio","is_ca":false},{"name":"Rosemarie Smith","is_ca":false},{"name":"Cathy A. Stevens","is_ca":false},{"name":"Cynthia J. Curry","is_ca":false},{"name":"Roger L. Ladda","is_ca":false},{"name":"Zheng Fan","is_ca":false},{"name":"Joyce E. Fox","is_ca":false},{"name":"Judith A. Martin","is_ca":false},{"name":"Hoda Abdel‐Hamid","is_ca":false},{"name":"Elizabeth McCracken","is_ca":false},{"name":"Barbara McGillivray","is_ca":true},{"name":"Diane Masser‐Frye","is_ca":false},{"name":"Taosheng Huang","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01083030671294247,"gpt":0.2763836634846513,"spread":0.2655533567717089,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005366225,0.0009740489,0.0008069609,0.002012445,0.0003568192,0.000399468,0.0004008176,0.0005329837,0.003151688],"category_scores_gemma":[0.001807469,0.0003384878,0.0006258696,0.0004864902,0.0003758893,0.000199508,0.0006387533,0.0004497036,0.0004573695],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003038174,"about_ca_system_score_gemma":0.0004265859,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001344787,"about_ca_topic_score_gemma":0.00083134,"domain_scores_codex":[0.999382,0.0002109536,0.00006239388,0.0001639423,0.0001209463,0.00005974739],"domain_scores_gemma":[0.9994405,0.0002869148,0.00009133254,0.00004957828,0.00005048145,0.00008112724],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.002017571,0.0003041016,0.4537709,0.0002348085,0.0003718905,0.02491775,0.0006632821,0.004835548,0.474894,0.001639238,0.0006334396,0.03571741],"study_design_scores_gemma":[0.0003459764,0.001251203,0.859465,0.00007434686,0.0006520147,0.04349371,0.0003153743,0.01519354,0.07117965,0.001774741,0.00617259,0.00008185732],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.988479,0.0004187481,0.008546906,0.0002029548,0.00001692495,0.00008670793,0.000828026,0.000126798,0.001293977],"genre_scores_gemma":[0.9908648,0.0001598847,0.007461123,0.00007342275,0.00001545738,0.00007330465,0.001002379,0.00003806297,0.0003115416],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003151688,"threshold_uncertainty_score":0.01054347,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2033342861","doi":"10.1002/ajmg.a.31110","title":"Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves <i>FOXP2</i>","year":2006,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":121,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"SickKids Foundation; Hamilton Health Sciences; University of Toronto; McMaster University; Hospital for Sick Children; Hamilton Regional Laboratory Medicine Program","funders":"Canadian Institutes of Health Research; Hospital for Sick Children; Genome Canada; Health Sciences Centre Foundation; Howard Hughes Medical Institute","keywords":"FOXP2; Haploinsufficiency; Psychology; Neurodevelopmental disorder; Motor skill; Gene; Genetics; Developmental psychology; Biology; Autism; Phenotype","authors":[{"name":"Susan Zeesman","is_ca":true},{"name":"Małgorzata J.M. Nowaczyk","is_ca":true},{"name":"Ikuko Teshima","is_ca":true},{"name":"Wendy Roberts","is_ca":true},{"name":"Janis Oram Cardy","is_ca":true},{"name":"Jessica Brian","is_ca":true},{"name":"Lili Senman","is_ca":true},{"name":"Lars Feuk","is_ca":true},{"name":"Lucy R. Osborne","is_ca":true},{"name":"Stephen W. Scherer","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.005431267171742278,"gpt":0.2391146035290767,"spread":0.2336833363573344,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001559832,0.001123659,0.0005164564,0.0005420512,0.0006862679,0.0002411335,0.0003127109,0.0007695305,0.001732135],"category_scores_gemma":[0.0007324619,0.0004358856,0.0002479685,0.0003683053,0.001037411,0.0003747735,0.0007189449,0.0006268513,0.0003167282],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002571819,"about_ca_system_score_gemma":0.0002607512,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00101592,"about_ca_topic_score_gemma":0.001207251,"domain_scores_codex":[0.9997846,0.00003418649,0.00001859684,0.0000601635,0.00003492095,0.00006746634],"domain_scores_gemma":[0.9996549,0.000122878,0.0001337792,0.00001338532,0.00001086031,0.0000641915],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0003477157,0.00008476157,0.04847045,0.0001026587,0.0000392994,0.9033939,0.0005501931,0.0003244205,0.04107321,0.0004798737,0.0004180698,0.004715393],"study_design_scores_gemma":[0.0000665506,0.0002970229,0.0421957,0.0000147498,0.00004137678,0.9494293,0.0001481052,0.0003684571,0.006088633,0.0002809897,0.001056809,0.00001225347],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980348,0.0002048906,0.000438273,0.0001232277,0.00000835264,0.00001639354,0.00005201948,0.00001924247,0.001102904],"genre_scores_gemma":[0.9988631,0.0001776097,0.0005366543,0.00004731772,0.00002855757,0.00001285445,0.00005923962,0.000007725444,0.0002669827],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001732135,"threshold_uncertainty_score":0.005794585,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W3192445681","doi":"10.1002/ajmg.a.36395","title":"Amyoplasia revisited","year":2014,"lang":"en","type":"review","venue":"American Journal of Medical Genetics Part A","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":121,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"","keywords":"Arthrogryposis; Etiology; Medicine; Trunk; Pediatrics; Anatomy; Internal medicine; Biology","authors":[{"name":"Judith G. Hall","is_ca":true},{"name":"Kimberly A. Aldinger","is_ca":false},{"name":"Kimi I. Tanaka","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.04590298005157055,"gpt":0.416819158680816,"spread":0.3709161786292454,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000671306,0.0005863212,0.000568931,0.002187101,0.0008861345,0.001612778,0.0008417772,0.002021616,0.005493058],"category_scores_gemma":[0.002421264,0.0002025576,0.0004802533,0.001299595,0.001993377,0.001893627,0.001382524,0.002460859,0.001415652],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005766876,"about_ca_system_score_gemma":0.001099571,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001279681,"about_ca_topic_score_gemma":0.001570645,"domain_scores_codex":[0.9994131,0.0001141554,0.00009066149,0.0001575225,0.000120463,0.0001041402],"domain_scores_gemma":[0.9991983,0.0002777883,0.0001605847,0.00006743815,0.0001851443,0.0001108042],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0002617465,0.0001593568,0.04814357,0.003135205,0.0003008684,0.2549146,0.003893855,0.0006508108,0.01054797,0.1260285,0.09619528,0.4557683],"study_design_scores_gemma":[0.00003886099,0.00006003361,0.007786636,0.0013002,0.0000931769,0.607253,0.001299966,0.0002296226,0.0008334369,0.0216093,0.3594657,0.00003004406],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.1240978,0.6140729,0.01168096,0.07288887,0.00902483,0.0001778587,0.0007079344,0.0007310639,0.1666178],"genre_scores_gemma":[0.5871394,0.2938986,0.007101121,0.04274203,0.01140543,0.00011904,0.0006262008,0.0001802174,0.05678788],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.005493058,"threshold_uncertainty_score":0.01837605,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W1972541135","doi":"10.1002/ajmg.a.32040","title":"Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients","year":2007,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Fetal and Pediatric Neurological Disorders","field":"Medicine","cited_by":119,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Alberta Children's Hospital","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of General Medical Sciences","keywords":"Macrocephaly; Medicine; Chiari malformation; Polymicrogyria; Neuroimaging; Cerebellum; Anatomy; Encephalocele; Syringomyelia; Pathology; Magnetic resonance imaging; Radiology; Internal medicine","authors":[{"name":"Robert L. Conway","is_ca":false},{"name":"Barry D. Pressman","is_ca":false},{"name":"William B. Dobyns","is_ca":false},{"name":"Moise Danielpour","is_ca":false},{"name":"John Lee","is_ca":false},{"name":"Pedro A. Sanchez‐Lara","is_ca":false},{"name":"Merlin G. Butler","is_ca":false},{"name":"Elaine H. Zackai","is_ca":false},{"name":"Lindsey Campbell","is_ca":false},{"name":"Sulagna C. Saitta","is_ca":false},{"name":"Carol L. Clericuzio","is_ca":false},{"name":"Jeff M. Milunsky","is_ca":false},{"name":"H. Eugene Hoyme","is_ca":false},{"name":"Joseph T.C. Shieh","is_ca":false},{"name":"John B. Moeschler","is_ca":false},{"name":"Barbara F. Crandall","is_ca":false},{"name":"Julie Lauzon","is_ca":true},{"name":"David Viskochil","is_ca":false},{"name":"Brian Harding","is_ca":false},{"name":"John M. Graham","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.02121300774100125,"gpt":0.3081524177023087,"spread":0.2869394099613075,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00034532,0.0004220383,0.0003684537,0.001475368,0.0009131304,0.0006574296,0.0002805585,0.000393546,0.001091723],"category_scores_gemma":[0.001819776,0.0003713095,0.0003088147,0.0008578782,0.0004751223,0.0008806805,0.0006391908,0.000441882,0.0002769458],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003912279,"about_ca_system_score_gemma":0.0003477925,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003636156,"about_ca_topic_score_gemma":0.002880272,"domain_scores_codex":[0.9996393,0.00006417733,0.00004437818,0.0001186001,0.00006215341,0.00007136716],"domain_scores_gemma":[0.9989674,0.000149306,0.0003622019,0.00006748722,0.0001704083,0.0002831151],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00003994219,0.00004643115,0.9914793,0.000007018912,0.00002522575,0.004996713,0.0006368133,0.00002587158,0.0007476616,0.00001794398,0.00007479396,0.001902284],"study_design_scores_gemma":[0.00001240668,0.0003023986,0.9513445,0.00001877518,0.0000558994,0.04547548,0.001285498,0.000175226,0.0004399798,0.00004653386,0.0008251451,0.00001803963],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9993825,0.0001746884,0.00006783144,0.00002374368,0.00000261218,0.00000642507,0.00006079681,0.000004037444,0.0002773397],"genre_scores_gemma":[0.9993719,0.0001796587,0.000112805,0.00002161244,0.00001006294,0.0000130636,0.0001653683,0.000003491681,0.0001221652],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003636156,"threshold_uncertainty_score":0.007229984,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W1944638690","doi":"10.1002/ajmg.a.37286","title":"Autism spectrum disorder in Prader–Willi syndrome: A systematic review","year":2015,"lang":"en","type":"review","venue":"American Journal of Medical Genetics Part A","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":118,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Glenrose Rehabilitation Hospital; University of Alberta; Alberta Health Services","funders":"","keywords":"Autism spectrum disorder; CINAHL; Neurodevelopmental disorder; Autism; Uniparental disomy; Medicine; Angelman syndrome; Clinical psychology; MEDLINE; Meta-analysis; Psychology; Psychiatry; Genetics; Psychological intervention; Chromosome; Pathology; Biology","authors":[{"name":"Jeffrey Bennett","is_ca":true},{"name":"Tamara Germani","is_ca":true},{"name":"Andrea M. Haqq","is_ca":true},{"name":"Lonnie Zwaigenbaum","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.02094389307874395,"gpt":0.3290541531435777,"spread":0.3081102600648337,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.003934045,0.001153085,0.005969291,0.01543119,0.000524168,0.00206785,0.001818545,0.001635978,0.004760682],"category_scores_gemma":[0.01981874,0.0007862935,0.004063002,0.01574483,0.0007926475,0.002363892,0.001521335,0.0009197968,0.0003454697],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.003201963,"about_ca_system_score_gemma":0.009629826,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01265781,"about_ca_topic_score_gemma":0.03182355,"domain_scores_codex":[0.9964948,0.0009025846,0.001503828,0.00032339,0.0006455309,0.0001299163],"domain_scores_gemma":[0.9834003,0.01181879,0.002872379,0.0001627487,0.001482646,0.0002631665],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"systematic_review","study_design_gemma":"systematic_review","study_design_scores_codex":[0.00009355857,0.00001115492,0.00088364,0.9549818,0.002706533,0.0001409346,0.0002749858,0.0000503335,0.0001000882,0.0002062363,0.00277588,0.03777488],"study_design_scores_gemma":[0.0001143186,0.00009710545,0.006932243,0.9497469,0.01953235,0.0006408474,0.0004292869,0.00004737504,0.00006638109,0.0002028021,0.02216279,0.00002769181],"study_design_candidate":"systematic_review","study_design_consensus":"systematic_review","genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0008029096,0.9980069,0.00005789017,0.0002125683,0.00008793639,0.0001103128,0.0004698159,0.000005531992,0.0002462338],"genre_scores_gemma":[0.006552235,0.992321,0.0002443728,0.0002794125,0.000056717,0.0002383898,0.0002277568,0.000002843213,0.00007730317],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.01543119,"threshold_uncertainty_score":0.0251683,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2145948095","doi":"10.1002/ajmg.a.32078","title":"Muenke syndrome (FGFR3‐related craniosynostosis): Expansion of the phenotype and review of the literature","year":2007,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Craniofacial Disorders and Treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":116,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"NHLBI Division of Intramural Research; National Institutes of Health","keywords":"Medicine; Craniosynostosis; Hearing loss; Penetrance; Sensorineural hearing loss; Pediatrics; Audiogram; Audiology; Surgery; Phenotype; Genetics; Biology; Gene","authors":[{"name":"Emily S Doherty","is_ca":false},{"name":"Felicitas Lacbawan","is_ca":false},{"name":"Donald W. Hadley","is_ca":false},{"name":"Carmen C. Brewer","is_ca":false},{"name":"Christopher Zalewski","is_ca":false},{"name":"H. Jeff Kim","is_ca":false},{"name":"Beth Solomon","is_ca":false},{"name":"Kenneth N. Rosenbaum","is_ca":false},{"name":"Demetrio L. Domingo","is_ca":false},{"name":"Thomas C. Hart","is_ca":false},{"name":"Brian P. Brooks","is_ca":false},{"name":"LaDonna Immken","is_ca":false},{"name":"R. Brian Lowry","is_ca":true},{"name":"Virginia Kimonis","is_ca":false},{"name":"Alan Shanske","is_ca":false},{"name":"Fernanda Sarquis Jehee","is_ca":false},{"name":"Maria Rita Passos‐Bueno","is_ca":false},{"name":"Carol Knightly","is_ca":false},{"name":"Donna M. McDonald‐McGinn","is_ca":false},{"name":"Elaine H. Zackai","is_ca":false},{"name":"Maximilian Muenke","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.004158634319899442,"gpt":0.2539314078044708,"spread":0.2497727734845713,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000506312,0.000877641,0.001531544,0.007181524,0.0003924684,0.000814497,0.001081897,0.0009166901,0.001696376],"category_scores_gemma":[0.0009493501,0.0002852352,0.0005436108,0.005547617,0.0006261658,0.001283867,0.0005155214,0.0007890809,0.000696021],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005094575,"about_ca_system_score_gemma":0.0006772765,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009877811,"about_ca_topic_score_gemma":0.002075564,"domain_scores_codex":[0.9996641,0.00004438385,0.0001154425,0.00006236199,0.00008604107,0.00002765418],"domain_scores_gemma":[0.9992869,0.0003376248,0.0001469818,0.00002054928,0.0001182817,0.00008959018],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.0001949558,0.0001663922,0.009059637,0.02023869,0.0003617689,0.04639306,0.0003437086,0.0008135067,0.003821451,0.001141974,0.03768355,0.8797814],"study_design_scores_gemma":[0.0000652634,0.0003327829,0.06472977,0.02211616,0.001623937,0.4075355,0.001201629,0.0008576026,0.001648997,0.003121311,0.4966007,0.0001664842],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.006341557,0.9898291,0.0004852558,0.0008053391,0.0005327745,0.00001549196,0.00008519222,0.00004414032,0.001861154],"genre_scores_gemma":[0.01550696,0.9811206,0.0009367365,0.0006725032,0.001028113,0.0000168837,0.0001251232,0.000007774944,0.0005853157],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.007181524,"threshold_uncertainty_score":0.005674958,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2076012285","doi":"10.1002/ajmg.a.32767","title":"aCGH detects partial tetrasomy of 12p in blood from Pallister–Killian syndrome cases without invasive skin biopsy","year":2009,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":113,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Credit Valley Hospital","funders":"","keywords":"Isochromosome; Tetrasomy; Biology; Comparative genomic hybridization; Subtelomere; Fluorescence in situ hybridization; Karyotype; Chromosome; Pathology; Aneuploidy; Genetics; Medicine; Gene","authors":[{"name":"Aaron Theisen","is_ca":false},{"name":"Jill A. Rosenfeld","is_ca":false},{"name":"Sandra A. Farrell","is_ca":true},{"name":"Catharine Harris","is_ca":false},{"name":"H. Wetzel","is_ca":false},{"name":"Beth A. Torchia","is_ca":false},{"name":"Bassem A. Bejjani","is_ca":false},{"name":"Blake C. Ballif","is_ca":false},{"name":"Lisa G. Shaffer","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.009487557184884728,"gpt":0.250358542520055,"spread":0.2408709853351702,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001507225,0.0005117018,0.0003093498,0.002207177,0.0003190366,0.0003783355,0.0002512788,0.0004916316,0.00217777],"category_scores_gemma":[0.000770545,0.0002248209,0.0001744282,0.0005822551,0.0004213202,0.0001648611,0.0003215171,0.0002767853,0.0004853068],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001799571,"about_ca_system_score_gemma":0.00006638334,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001288772,"about_ca_topic_score_gemma":0.001031221,"domain_scores_codex":[0.9997423,0.00002890262,0.00002558191,0.00008743622,0.00006676029,0.00004893182],"domain_scores_gemma":[0.9997439,0.00009871525,0.00003799016,0.00002223797,0.00003811959,0.00005894945],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0006431444,0.00007711496,0.265529,0.0001897952,0.00007125564,0.1174284,0.001806699,0.0002397356,0.5901479,0.0001410414,0.0006304642,0.02309536],"study_design_scores_gemma":[0.00003577197,0.0004241026,0.6766624,0.00004413805,0.000110311,0.2315114,0.001171561,0.002070239,0.08491896,0.0002435732,0.002778556,0.00002892497],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973132,0.0002347586,0.0009879069,0.00004133895,0.000008026465,0.00001584556,0.0001261946,0.00004768178,0.001224959],"genre_scores_gemma":[0.9987071,0.0001425536,0.0006370252,0.00002671584,0.000006933305,0.000008923509,0.0001652422,0.000006829304,0.0002987389],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002207177,"threshold_uncertainty_score":0.007285357,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null}]}