{"meta":{"page":1,"per_page":50,"max_per_page":100,"total":64,"total_is_capped":false,"direct_labels_cover":0,"predictions_cover":64,"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":"7b093b42e19e","filters":{"venue":"Neurogenetics"}},"results":[{"id":"W1972844230","doi":"10.1007/s10048-009-0196-y","title":"Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management","year":2009,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":185,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"","funders":"Centre National de la Recherche Scientifique; Institut national de la recherche scientifique","keywords":"Epidemiology; Human genetics; Cohort; Ataxia; Cerebellar ataxia; Medicine; Cohort study; Pediatrics; Cerebellar diseases; Genetics; Age of onset; Pathology; Biology; Cerebellum; Internal medicine; Gene; Psychiatry; Disease","authors":[{"name":"Mathieu Anheim","is_ca":false},{"name":"Marie‐Céline Fleury","is_ca":false},{"name":"B. Monga","is_ca":false},{"name":"Vincent Laugel","is_ca":false},{"name":"Denys Chaigne","is_ca":false},{"name":"G. Rodier","is_ca":false},{"name":"Emmanuelle Ginglinger","is_ca":false},{"name":"Clotilde Boulay","is_ca":false},{"name":"Sylvie Courtois","is_ca":false},{"name":"Nathalie Drouot","is_ca":false},{"name":"M. Fritsch","is_ca":false},{"name":"Jean‐Pierre Delaunoy","is_ca":false},{"name":"Dominique Stoppa‐Lyonnet","is_ca":false},{"name":"Christine Tranchant","is_ca":false},{"name":"M. Koenig","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.06896789548935296,"gpt":0.3928732947879823,"spread":0.3239053992986294,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005887804,0.0007516147,0.0005974222,0.002013346,0.002223074,0.001177577,0.0005318419,0.0008296694,0.002105249],"category_scores_gemma":[0.001948977,0.0004460485,0.0004233358,0.001535966,0.000723339,0.0006057962,0.0008860218,0.0004744518,0.0004255668],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001017395,"about_ca_system_score_gemma":0.0007542317,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.04565295,"about_ca_topic_score_gemma":0.02368057,"domain_scores_codex":[0.9993324,0.0001712169,0.00006869397,0.0002231727,0.00008951277,0.0001150038],"domain_scores_gemma":[0.9989561,0.0002122172,0.0001981459,0.0001028145,0.0002731385,0.0002575436],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001096177,0.00008816156,0.9955967,0.000006819654,0.00003540878,0.00122562,0.0009441656,0.00004887767,0.0007142153,0.00003662529,0.00008851034,0.001105247],"study_design_scores_gemma":[0.00001166117,0.0001792601,0.9954964,0.000006324992,0.00002915899,0.002478169,0.001278559,0.0001078112,0.00006240555,0.00003050478,0.0003117687,0.000008025807],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9993806,0.00007347405,0.00007307371,0.00002342216,0.000002202077,0.000009505497,0.0001439872,0.000002405186,0.0002914553],"genre_scores_gemma":[0.9991954,0.00007172629,0.00007274147,0.00003001479,0.000005762152,0.00001315341,0.0003153,0.00000365912,0.0002922613],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04565295,"threshold_uncertainty_score":0.09077448,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W1980461568","doi":"10.1007/s10048-008-0131-7","title":"ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia","year":2008,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":148,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true},"ca_institutions":"","funders":"ZonMw","keywords":"Cerebellar ataxia; Ataxia; Medicine; Spasticity; Population; Atrophy; Age of onset; Cohort; Cerebellum; Pediatrics; Pathology; Internal medicine; Psychiatry; Physical therapy","authors":[{"name":"Sascha Vermeer","is_ca":false},{"name":"Rowdy Meijer","is_ca":false},{"name":"Benjamin J. Pijl","is_ca":false},{"name":"Janneke Timmermans","is_ca":false},{"name":"J.R.M. Cruysberg","is_ca":false},{"name":"Maaike M. Bos","is_ca":false},{"name":"Helenius J. Schelhaas","is_ca":false},{"name":"Bart P.C. van de Warrenburg","is_ca":false},{"name":"Nine Knoers","is_ca":false},{"name":"Hans Scheffer","is_ca":false},{"name":"B. Kremer","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.06750782077665866,"gpt":0.2823340027582779,"spread":0.2148261819816192,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000228589,0.0004252128,0.0005106314,0.0006945179,0.000596962,0.0007076683,0.0003255317,0.0005350982,0.003102645],"category_scores_gemma":[0.001428009,0.0002498592,0.0002024062,0.001201927,0.0003127768,0.0003642736,0.0003862033,0.0002329845,0.000393985],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005292693,"about_ca_system_score_gemma":0.0006192842,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.06392148,"about_ca_topic_score_gemma":0.06629156,"domain_scores_codex":[0.9995993,0.00005107517,0.0000443243,0.000159719,0.00009292139,0.00005266121],"domain_scores_gemma":[0.9996055,0.00005709806,0.0001251322,0.00001981902,0.0001021203,0.00009042229],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002031579,0.00007842082,0.9591267,0.0001183958,0.0001783506,0.01145022,0.001360608,0.0001387978,0.01005497,0.0002096426,0.001297706,0.01578315],"study_design_scores_gemma":[0.00003399813,0.0001576463,0.9681162,0.00005445191,0.00008072805,0.02510684,0.001315711,0.0005133976,0.0006189366,0.000153865,0.003816669,0.00003158999],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9975853,0.0004511037,0.0002850919,0.0000515042,0.000009003044,0.00002437429,0.0005379257,0.000009583179,0.001045991],"genre_scores_gemma":[0.997633,0.0006612493,0.0002380894,0.00004560697,0.00001143383,0.00001764911,0.0006876058,0.000009961415,0.0006953811],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06392148,"threshold_uncertainty_score":0.1270989,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2170322951","doi":"10.1007/s10048-012-0349-2","title":"Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification","year":2013,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Genomics and Rare Diseases","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":"Toronto Western Hospital","funders":"National Institute of Neurological Disorders and Stroke; National Institute of Mental Health; National Institute on Aging","keywords":"Genetics; Missense mutation; Genetic heterogeneity; Biology; Disease; Human genetics; Mutation; Pathology; Medicine; Phenotype; Gene","authors":[{"name":"Sandy Hsu","is_ca":false},{"name":"Renee Sears","is_ca":false},{"name":"Roberta R. Lemos","is_ca":false},{"name":"Beatriz Quintáns","is_ca":false},{"name":"Alden Huang","is_ca":false},{"name":"Elizabeth Spiteri","is_ca":false},{"name":"Lisette Nevarez","is_ca":false},{"name":"Catherine Mamah","is_ca":false},{"name":"Mayana Zatz","is_ca":false},{"name":"Kerrie D. Pierce","is_ca":false},{"name":"Janice M. Fullerton","is_ca":false},{"name":"John C. Adair","is_ca":false},{"name":"Jon Berner","is_ca":false},{"name":"Matthew Bower","is_ca":false},{"name":"Henry Brodaty","is_ca":false},{"name":"Olga Carmona","is_ca":false},{"name":"Valerija Dobričić","is_ca":false},{"name":"Brent L. Fogel","is_ca":false},{"name":"Daniel García-Estevez","is_ca":false},{"name":"Jill Goldman","is_ca":false},{"name":"John L. Goudreau","is_ca":false},{"name":"Suellen Hopfer","is_ca":false},{"name":"Milena Janković","is_ca":false},{"name":"Serge Jaumà","is_ca":false},{"name":"Joanna C. Jen","is_ca":false},{"name":"Suppachok Kirdlarp","is_ca":false},{"name":"Joerg Klepper","is_ca":false},{"name":"Vladimir Kostić","is_ca":false},{"name":"Anthony E. Lang","is_ca":true},{"name":"Agnès Linglart","is_ca":false},{"name":"Melissa Maisenbacher","is_ca":false},{"name":"Bala V. Manyam","is_ca":false},{"name":"Pietro Mazzoni","is_ca":false},{"name":"Z Miedzybrodzka","is_ca":false},{"name":"Witoon Mitarnun","is_ca":false},{"name":"Philip B. Mitchell","is_ca":false},{"name":"Jennifer M. Mueller","is_ca":false},{"name":"Ivana Novaković","is_ca":false},{"name":"Martin Paucar","is_ca":false},{"name":"Henry L. Paulson","is_ca":false},{"name":"Sheila A Simpson","is_ca":false},{"name":"Per Svenningsson","is_ca":false},{"name":"Paul Tuite","is_ca":false},{"name":"Jerrold L. Vitek","is_ca":false},{"name":"Suppachok Wetchaphanphesat","is_ca":false},{"name":"Charles A. Williams","is_ca":false},{"name":"Michele Yang","is_ca":false},{"name":"Peter R. Schofield","is_ca":false},{"name":"João Ricardo Mendes de Oliveira","is_ca":false},{"name":"María-Jesús Sobrido","is_ca":false},{"name":"Daniel H. Geschwind","is_ca":false},{"name":"Giovanni Coppola","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01170681340634208,"gpt":0.2365373774334111,"spread":0.224830564027069,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001693659,0.0004547513,0.0003188933,0.0008331125,0.0003543345,0.0002621076,0.0001454994,0.0003075709,0.001127274],"category_scores_gemma":[0.0008104464,0.0001003126,0.0001613489,0.0006225965,0.0002285568,0.0001007757,0.0002172789,0.000147019,0.0001937585],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001899429,"about_ca_system_score_gemma":0.000159717,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001616172,"about_ca_topic_score_gemma":0.002154869,"domain_scores_codex":[0.9998282,0.00002386351,0.00002107338,0.00004529025,0.00005987922,0.00002168961],"domain_scores_gemma":[0.9998466,0.00004641007,0.00004419924,0.00001069175,0.00001828404,0.00003379111],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004862371,0.0001227518,0.6861174,0.0001321923,0.0001405827,0.1069282,0.0009768819,0.0003991106,0.1690046,0.0003543813,0.001625771,0.03371194],"study_design_scores_gemma":[0.00003266451,0.0001286055,0.8507932,0.00004656806,0.00009017638,0.1357685,0.0003008724,0.0007679596,0.009096614,0.0002925275,0.002667102,0.0000151063],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981214,0.0005432991,0.00026511,0.000055812,0.000004013068,0.000009293469,0.0001981164,0.00002394828,0.0007788997],"genre_scores_gemma":[0.998906,0.0002640397,0.0003438004,0.00004010839,0.00001072177,0.000004403602,0.0002528942,0.000006258935,0.0001717279],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001616172,"threshold_uncertainty_score":0.003771126,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2099361685","doi":"10.1007/s10048-010-0241-x","title":"LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease","year":2010,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Parkinson's Disease Mechanisms and Treatments","field":"Medicine","cited_by":128,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"University of Saskatchewan; Royal University Hospital","funders":"National Institute of Neurological Disorders and Stroke; National Institute on Aging; Canadian Institutes of Health Research; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Fondation pour la Recherche sur Alzheimer; National Center for Advancing Translational Sciences; Mayo Foundation for Medical Education and Research; Parkinson's Disease Foundation; National Science Foundation","keywords":"Locus (genetics); Odds ratio; LRRK2; Haplotype; Genetics; Medicine; Single-nucleotide polymorphism; Internal medicine; Genotype; Parkinson's disease; Biology; Disease; Gene","authors":[{"name":"Carles Vilariño‐Güell","is_ca":false},{"name":"Christian Wider","is_ca":false},{"name":"Owen A. Ross","is_ca":false},{"name":"Barbara Jasińska‐Myga","is_ca":false},{"name":"Jennifer M. Kachergus","is_ca":false},{"name":"Stephanie A. Cobb","is_ca":false},{"name":"Alexandra I. Soto‐Ortolaza","is_ca":false},{"name":"Bahareh Behrouz","is_ca":false},{"name":"Michael G. Heckman","is_ca":false},{"name":"Nancy N. Diehl","is_ca":false},{"name":"Claudia Testa","is_ca":false},{"name":"Zbigniew K. Wszołek","is_ca":false},{"name":"Ryan J. Uitti","is_ca":false},{"name":"Joseph Jankovic","is_ca":false},{"name":"Elan D. Louis","is_ca":false},{"name":"Lorraine N. Clark","is_ca":false},{"name":"Alex Rajput","is_ca":true},{"name":"Matthew J. Farrer","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.0106398503694739,"gpt":0.2362426676257639,"spread":0.22560281725629,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005025249,0.0009853466,0.0007193376,0.001357999,0.0006633701,0.0005988534,0.0005259908,0.001585889,0.00371194],"category_scores_gemma":[0.002234815,0.0003584522,0.0005169727,0.001142911,0.0004948758,0.0004874332,0.0003731021,0.0008004676,0.000348382],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001720632,"about_ca_system_score_gemma":0.0001593325,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001152815,"about_ca_topic_score_gemma":0.001341334,"domain_scores_codex":[0.9995394,0.0001240174,0.00009161796,0.0001211764,0.00007773958,0.00004618291],"domain_scores_gemma":[0.9979113,0.0009275683,0.0006997121,0.00007580971,0.0001103467,0.0002752366],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.01438322,0.0005303646,0.7907126,0.0002523782,0.001543414,0.03839292,0.001551655,0.0007453883,0.1299833,0.0009781602,0.001122218,0.01980443],"study_design_scores_gemma":[0.0003412435,0.0006659559,0.9506582,0.0000479976,0.0007119458,0.03734733,0.0003803901,0.002018281,0.005091509,0.001408126,0.001254812,0.0000741491],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9982526,0.0005830242,0.0003017055,0.0001160903,0.00002720713,0.000005815182,0.0001703835,0.00001512218,0.0005280302],"genre_scores_gemma":[0.9986988,0.0001013,0.0003568126,0.00006073072,0.00004758093,0.000005006682,0.0001701129,0.00001178394,0.0005478265],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00371194,"threshold_uncertainty_score":0.01241767,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2017110893","doi":"10.1007/s10048-014-0394-0","title":"Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families","year":2014,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":115,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"University of Toronto; Hospital for Sick Children; Centre for Addiction and Mental Health","funders":"Canadian Institutes of Health Research; Ontario Genomics Institute; Genome Canada; Wellcome Trust; GlaxoSmithKline","keywords":"Copy-number variation; Autism; Proband; Autism spectrum disorder; Genetics; Human genetics; Microarray; Microarray analysis techniques; Single-nucleotide polymorphism; Neurodevelopmental disorder; Mendelian inheritance; Biology; Heritability of autism; Gene; Psychology; Genome; Genotype; Psychiatry; Mutation","authors":[{"name":"Gerald Egger","is_ca":true},{"name":"Katharina M. Roetzer","is_ca":false},{"name":"Abdul Noor","is_ca":true},{"name":"Anath C. Lionel","is_ca":true},{"name":"Huda Mahmood","is_ca":true},{"name":"Thomas Schwarzbraun","is_ca":false},{"name":"Oliver Boright","is_ca":true},{"name":"Anna Mikhailov","is_ca":true},{"name":"Christian R. Marshall","is_ca":true},{"name":"Christian Windpassinger","is_ca":false},{"name":"Erwin Petek","is_ca":false},{"name":"Stephen W. Scherer","is_ca":true},{"name":"Wolfgang Kaschnitz","is_ca":false},{"name":"John B. Vincent","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.006376031101714235,"gpt":0.2350148512830037,"spread":0.2286388201812894,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004820109,0.0004347053,0.0003995552,0.003045316,0.0004942085,0.0004752337,0.0003172794,0.0004274733,0.001511323],"category_scores_gemma":[0.00199798,0.0002348694,0.000462977,0.0008948057,0.000332274,0.0001936189,0.0006331897,0.0002851806,0.0002046719],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003590441,"about_ca_system_score_gemma":0.0002721793,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003378515,"about_ca_topic_score_gemma":0.001987176,"domain_scores_codex":[0.9994851,0.0001481713,0.00006379779,0.0001429761,0.00007982279,0.0000801045],"domain_scores_gemma":[0.9996275,0.0001590723,0.00009238518,0.00003584105,0.00004266378,0.00004262591],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001299651,0.0001477542,0.852244,0.00007513247,0.0003527763,0.008321001,0.002032178,0.00203611,0.0747456,0.001023251,0.000387327,0.05733526],"study_design_scores_gemma":[0.00003236219,0.0001842765,0.9761761,0.0000557344,0.0002425852,0.01123335,0.0005251763,0.002287412,0.00712635,0.0005301127,0.001582358,0.00002414148],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983662,0.0002626076,0.0007198401,0.0000277113,0.000003156253,0.000006126847,0.0001171233,0.000008958768,0.0004883729],"genre_scores_gemma":[0.9983101,0.0002015965,0.001040461,0.00001649064,0.000003122848,0.00001023207,0.0001427867,0.000007177439,0.0002679945],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003378515,"threshold_uncertainty_score":0.006717682,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2013013633","doi":"10.1007/s10048-007-0086-0","title":"Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes","year":2007,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":99,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Hospital for Sick Children; University of Toronto; SickKids Foundation","funders":"","keywords":"Autism; Angelman syndrome; UBE3A; Autism Diagnostic Observation Schedule; Neurodevelopmental disorder; Intellectual disability; Autism spectrum disorder; Psychology; Genetics; Uniparental disomy; Heritability of autism; Psychiatry; Clinical psychology; Biology; Gene; Chromosome; Ubiquitin ligase","authors":[{"name":"Maria Teresa Bonati","is_ca":false},{"name":"Silvia Russo","is_ca":false},{"name":"Palma Finelli","is_ca":false},{"name":"Maria Rosa Valsecchi","is_ca":false},{"name":"Francesca Cogliati","is_ca":false},{"name":"F. Cavalleri","is_ca":false},{"name":"Wendy Roberts","is_ca":true},{"name":"Maurizio Elia","is_ca":false},{"name":"Lidia Larizza","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.02373186385632553,"gpt":0.2810377759084099,"spread":0.2573059120520844,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001279175,0.0006939896,0.0007363577,0.004819854,0.0004695496,0.0005974247,0.0006208177,0.0003217152,0.005978303],"category_scores_gemma":[0.003538752,0.0002279763,0.0003920422,0.001411271,0.0001633958,0.0004233198,0.0009413482,0.0003466417,0.001833184],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003660556,"about_ca_system_score_gemma":0.0008198497,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00341704,"about_ca_topic_score_gemma":0.006029737,"domain_scores_codex":[0.9995448,0.0001277645,0.00007216484,0.00004925646,0.0001528686,0.00005304134],"domain_scores_gemma":[0.997573,0.0009819341,0.0002000531,0.0002766868,0.0005939404,0.0003744889],"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":[0.001939135,0.0003985083,0.1797982,0.000796878,0.0002437951,0.01401024,0.001347561,0.002596522,0.1083317,0.001813023,0.05594512,0.6327794],"study_design_scores_gemma":[0.0004495641,0.0008809034,0.5403341,0.000633078,0.0008104755,0.0597184,0.002156269,0.009179412,0.1624483,0.007925288,0.2151927,0.0002715613],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.746007,0.01470078,0.1086193,0.002461601,0.0002366404,0.001034201,0.06133895,0.008085839,0.05751578],"genre_scores_gemma":[0.7686356,0.009135191,0.1569371,0.000672058,0.0002269209,0.001044818,0.03809739,0.001826882,0.02342406],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005978303,"threshold_uncertainty_score":0.01999944,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2090382713","doi":"10.1007/s10048-007-0102-4","title":"The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developments","year":2007,"lang":"en","type":"review","venue":"Neurogenetics","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":79,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Vancouver General Hospital","funders":"National Cancer Institute; National Institute on Aging","keywords":"Frontotemporal lobar degeneration; Neuropathology; Haploinsufficiency; Biology; C9orf72; Genetics; Tau protein; Pathology; Gene; Frontotemporal dementia; Dementia; Alzheimer's disease; Medicine; Disease; Allele; Trinucleotide repeat expansion; Phenotype","authors":[{"name":"Ian R. Mackenzie","is_ca":true},{"name":"Rosa Rademakers","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.1380464026550471,"gpt":0.4139413794334375,"spread":0.2758949767783904,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009600391,0.001116607,0.001966584,0.001936427,0.0002634078,0.001294659,0.001534941,0.00166106,0.002449256],"category_scores_gemma":[0.0009117346,0.000305415,0.0004369433,0.002710513,0.0008971056,0.001760873,0.0008337212,0.001692365,0.001580632],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000761607,"about_ca_system_score_gemma":0.001460154,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001640659,"about_ca_topic_score_gemma":0.002846708,"domain_scores_codex":[0.9997976,0.00002880427,0.00003279177,0.0000376469,0.00008438961,0.00001873903],"domain_scores_gemma":[0.9993848,0.0003179213,0.00007604752,0.00001706048,0.0001452211,0.00005897612],"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":[0.0001462596,0.00007660508,0.0004730017,0.009530029,0.0001090301,0.0008617957,0.00006723456,0.0004515155,0.003725342,0.003279611,0.03255577,0.9487239],"study_design_scores_gemma":[0.00003903941,0.00005946485,0.001471571,0.002311605,0.0002381027,0.003394596,0.0001134635,0.0001055767,0.0006507957,0.003356019,0.9882284,0.00003144429],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0001027572,0.9987482,0.0001759592,0.0002427408,0.0001906643,0.000002663754,0.000009674176,0.000005789266,0.0005216893],"genre_scores_gemma":[0.0003782893,0.9986487,0.0002700819,0.000169375,0.0002266579,0.000003038057,0.00001722026,8.164773e-7,0.0002857776],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.002449256,"threshold_uncertainty_score":0.008193552,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2120979957","doi":"10.1007/s10048-004-0175-2","title":"Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16","year":2004,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":77,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"University of Calgary; University of British Columbia","funders":"National Institute of Neurological Disorders and Stroke","keywords":"Genetics; Genotype; Biology; Allele; Trinucleotide repeat expansion; Gene; Haplotype; Disease; Huntington's disease; Internal medicine; Medicine","authors":[{"name":"Luc Djouss�","is_ca":false},{"name":"Beth A. Knowlton","is_ca":false},{"name":"Michael R. Hayden","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 Durr","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":"Ronald J. Trent","is_ca":false},{"name":"Elizabeth McCusker","is_ca":false},{"name":"Estrella G�mez-Tortosa","is_ca":false},{"name":"David Mayo Cabrero","is_ca":false},{"name":"Randi Jones","is_ca":false},{"name":"Andrea Zanko","is_ca":false},{"name":"Martha Nance","is_ca":false},{"name":"Ruth K. Abramson","is_ca":false},{"name":"Oksana Suchowersky","is_ca":true},{"name":"Jane S. Paulsen","is_ca":false},{"name":"Madaline B. Harrison","is_ca":false},{"name":"Qiong Yang","is_ca":false},{"name":"L. Adrienne Cupples","is_ca":false},{"name":"Jayalakshmi Mysore","is_ca":false},{"name":"James F. Gusella","is_ca":false},{"name":"Marcy E. MacDonald","is_ca":false},{"name":"Richard H. Myers","is_ca":false},{"name":"E. Almqvist","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.1242955497000315,"gpt":0.3368339559871429,"spread":0.2125384062871114,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003911721,0.0009143649,0.0007655654,0.002242963,0.0005916553,0.0004220051,0.001051987,0.00132538,0.01093034],"category_scores_gemma":[0.001550393,0.0004920629,0.0009720827,0.0007660339,0.0006044757,0.0003042778,0.0008145332,0.0009642048,0.0009738986],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001907075,"about_ca_system_score_gemma":0.0002648169,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001640489,"about_ca_topic_score_gemma":0.001108875,"domain_scores_codex":[0.9995845,0.00008517604,0.0000485387,0.0001513116,0.00007442227,0.00005603701],"domain_scores_gemma":[0.9981207,0.0008596939,0.0005237649,0.0001764314,0.0001036388,0.0002157111],"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":[0.005500662,0.0002955874,0.1191603,0.0002537894,0.0006074057,0.01843781,0.0009609303,0.0005897534,0.836695,0.001500923,0.0005998259,0.01539807],"study_design_scores_gemma":[0.000310469,0.0008901275,0.907204,0.0001435269,0.001031609,0.01957451,0.0002475848,0.001207122,0.06281173,0.002001615,0.004508674,0.0000690259],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9932851,0.001030305,0.002573955,0.000246066,0.0001312149,0.00002466852,0.0008150137,0.000113894,0.001779797],"genre_scores_gemma":[0.994038,0.0003954471,0.001531452,0.0001038123,0.00008917434,0.00004233545,0.0005054969,0.00008257131,0.00321169],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01093034,"threshold_uncertainty_score":0.0365656,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2138999315","doi":"10.1007/s10048-009-0178-0","title":"The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas","year":2009,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Neurofibromatosis and Schwannoma Cases","field":"Medicine","cited_by":67,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"SickKids Foundation; Hospital for Sick Children; Toronto Western Hospital; University of Toronto","funders":"Cancer Research UK","keywords":"Neurofibromatosis; Loss of heterozygosity; Missense mutation; Germline mutation; Germline; Neurofibroma; Neurofibromin 1; Somatic cell; Pathology; Biology; Medicine; Genetics; Mutation; Cancer research; Gene; Allele","authors":[{"name":"Meena Upadhyaya","is_ca":false},{"name":"Gill Spurlock","is_ca":false},{"name":"Lan Kluwe","is_ca":false},{"name":"Nadia Chuzhanova","is_ca":false},{"name":"Emma Bennett","is_ca":false},{"name":"Nick Thomas","is_ca":false},{"name":"Abhijit Guha","is_ca":true},{"name":"Victor Mautner","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.008914758262137982,"gpt":0.2384755081863951,"spread":0.2295607499242572,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004044564,0.001142924,0.0005097626,0.002877827,0.001496242,0.0008813555,0.0006813993,0.0009708113,0.003931288],"category_scores_gemma":[0.003127324,0.0005697015,0.0003489765,0.001335676,0.001162857,0.0009040625,0.0008928623,0.0003849767,0.0004951051],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004343319,"about_ca_system_score_gemma":0.0004009093,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001300813,"about_ca_topic_score_gemma":0.001724973,"domain_scores_codex":[0.9993876,0.00006867084,0.00009845015,0.0001310539,0.0001320455,0.0001821917],"domain_scores_gemma":[0.9987577,0.0005818574,0.0002649309,0.00005235708,0.0001140257,0.0002290449],"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":[0.0006816606,0.000129942,0.4456378,0.00005707458,0.0000733925,0.498469,0.001960553,0.0005132873,0.04182512,0.000624165,0.0004010023,0.009627034],"study_design_scores_gemma":[0.00003502934,0.0001642444,0.2351743,0.0000227304,0.00008166046,0.7587647,0.001187805,0.0005687301,0.002898655,0.0005848086,0.0004893083,0.00002799294],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997624,0.0001833695,0.0001213114,0.00006954979,0.000004822572,0.000004923536,0.00006616372,0.000009030016,0.001916853],"genre_scores_gemma":[0.9996432,0.00005617487,0.0001133974,0.00002548772,0.00001707007,0.000003057437,0.00003173372,0.000004036564,0.0001058059],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003931288,"threshold_uncertainty_score":0.01315147,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W1996770886","doi":"10.1007/s10048-013-0378-5","title":"SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia","year":2013,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Glycogen Storage Diseases and Myoclonus","field":"Medicine","cited_by":64,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Children's Hospital of Eastern Ontario; University of British Columbia","funders":"National Institute of Neurological Disorders and Stroke","keywords":"Sanger sequencing; Genetics; Biology; Dystonia; Exome sequencing; Copy-number variation; Mutation; Gene; Neuroscience; Genome","authors":[{"name":"Matt Baker","is_ca":false},{"name":"Audrey Strongosky","is_ca":false},{"name":"Mónica Sánchez-Contreras","is_ca":false},{"name":"Shan Yang","is_ca":false},{"name":"W. M. Ferguson","is_ca":false},{"name":"Donald B. Calne","is_ca":true},{"name":"Susan Calne","is_ca":true},{"name":"A. Jon Stoessl","is_ca":true},{"name":"Judith Allanson","is_ca":true},{"name":"Daniel F. Broderick","is_ca":false},{"name":"Michael Hutton","is_ca":false},{"name":"Dennis W. Dickson","is_ca":false},{"name":"Owen A. Ross","is_ca":false},{"name":"Zbigniew K. Wszołek","is_ca":false},{"name":"Rosa Rademakers","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.005873428546122234,"gpt":0.2086544658138325,"spread":0.2027810372677103,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003548089,0.001327663,0.0005725586,0.001679622,0.0009015498,0.0004747859,0.0008155276,0.002114895,0.003660154],"category_scores_gemma":[0.001602296,0.0003777881,0.0004758874,0.001046463,0.000985342,0.0003769493,0.0007489527,0.0005266992,0.0003820489],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004665135,"about_ca_system_score_gemma":0.0004088425,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003739296,"about_ca_topic_score_gemma":0.003227042,"domain_scores_codex":[0.9996206,0.00005785435,0.00007409854,0.00008985423,0.00007915562,0.00007842034],"domain_scores_gemma":[0.9993407,0.0003171521,0.000148465,0.00002681713,0.00004267595,0.0001242442],"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":[0.001133268,0.00007701404,0.03464206,0.00007801392,0.00008661341,0.8844496,0.0005481316,0.0004059355,0.07461654,0.0003668001,0.0003965771,0.003199541],"study_design_scores_gemma":[0.0002767851,0.0003372693,0.1751875,0.00008412401,0.0004333078,0.7895986,0.0006782552,0.002630049,0.02737417,0.0009618801,0.002371865,0.00006618377],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9965347,0.0005177959,0.0004614569,0.0002758859,0.00004116103,0.00001741522,0.0002207866,0.00002663848,0.001904203],"genre_scores_gemma":[0.9990375,0.00009658017,0.0002778647,0.00007390723,0.00003766067,0.000008033736,0.00009601832,0.00001061623,0.0003619364],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003739296,"threshold_uncertainty_score":0.0122444,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2125286257","doi":"10.1007/s10048-004-0179-y","title":"Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey","year":2004,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":60,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true},"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine","funders":"","keywords":"Human genetics; Genetics; Ataxia; Mutation; Biology; Spinocerebellar ataxia; Spastic; Medicine; Gene; Neuroscience; Psychiatry","authors":[{"name":"Andréa Richter","is_ca":true},{"name":"Rıza Köksal Özgül","is_ca":false},{"name":"Virginie Poisson","is_ca":true},{"name":"Haluk Topaloğlu","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.02371484171390573,"gpt":0.2596157082221996,"spread":0.2359008665082939,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000322081,0.002383475,0.0009016723,0.00292843,0.001558348,0.0005587233,0.000896709,0.001361293,0.00300997],"category_scores_gemma":[0.0009923719,0.0005194541,0.001213462,0.001641612,0.00124958,0.0002778987,0.0009747555,0.0005347059,0.0004977043],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009093739,"about_ca_system_score_gemma":0.0007644318,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0104995,"about_ca_topic_score_gemma":0.006500142,"domain_scores_codex":[0.9993013,0.00007621926,0.0001477374,0.0002227465,0.0001407226,0.0001112652],"domain_scores_gemma":[0.9993783,0.0001410968,0.0001644829,0.00003995014,0.000113218,0.0001628677],"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":[0.002288324,0.0002839228,0.107071,0.0003126778,0.0006246564,0.7575393,0.004403255,0.002173964,0.09994216,0.001912573,0.00242094,0.02102737],"study_design_scores_gemma":[0.0003999635,0.0006118076,0.2218741,0.000138709,0.0008056748,0.7465056,0.001659641,0.001533588,0.01416069,0.0008355056,0.01128677,0.0001878677],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9961247,0.0005999493,0.0005915115,0.0001601835,0.00007639183,0.00003132944,0.0005054405,0.00004721388,0.001863216],"genre_scores_gemma":[0.9978251,0.0002105352,0.0005142259,0.00005698083,0.00005110924,0.00001140071,0.0003365829,0.0000208444,0.0009731073],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0104995,"threshold_uncertainty_score":0.02087677,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W1984533201","doi":"10.1007/s10048-011-0306-5","title":"Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases","year":2012,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":53,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"","keywords":"Human genetics; Phenotype; Genetics; Genotype; Biology; Correlation; Genotype-phenotype distinction; Molecular medicine; Gene; Mathematics","authors":[{"name":"Jill A. Rosenfeld","is_ca":false},{"name":"Dina Amrom","is_ca":true},{"name":"Eva Andermann","is_ca":true},{"name":"Frédérick Andermann","is_ca":true},{"name":"Martin Veilleux","is_ca":true},{"name":"Cynthia J. Curry","is_ca":false},{"name":"Jamie Fisher","is_ca":false},{"name":"Stephen Deputy","is_ca":false},{"name":"Arthur S. Aylsworth","is_ca":false},{"name":"Cynthia M. Powell","is_ca":false},{"name":"Kandamurugu Manickam","is_ca":false},{"name":"Bryce A. Heese","is_ca":false},{"name":"Melissa Maisenbacher","is_ca":false},{"name":"Cathy A. Stevens","is_ca":false},{"name":"Jay W. Ellison","is_ca":false},{"name":"Sheila Upton","is_ca":false},{"name":"John B. Moeschler","is_ca":false},{"name":"Wilfredo Torres‐Martinez","is_ca":false},{"name":"Abby Stevens","is_ca":false},{"name":"Robert Marion","is_ca":false},{"name":"Elaine M. Pereira","is_ca":false},{"name":"Melanie Babcock","is_ca":false},{"name":"Bernice E. Morrow","is_ca":false},{"name":"Trilochan Sahoo","is_ca":false},{"name":"Allen N. Lamb","is_ca":false},{"name":"Blake C. Ballif","is_ca":false},{"name":"Alex R. Paciorkowski","is_ca":false},{"name":"Lisa G. Shaffer","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01818153064872416,"gpt":0.2444224881830664,"spread":0.2262409575343423,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007068359,0.00286067,0.001601825,0.002533857,0.001736662,0.001313459,0.00175322,0.002126034,0.003257143],"category_scores_gemma":[0.004507659,0.001431823,0.0009518325,0.001633687,0.003096114,0.0009328275,0.001873114,0.001394586,0.001181824],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005694521,"about_ca_system_score_gemma":0.00044183,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001631581,"about_ca_topic_score_gemma":0.001341718,"domain_scores_codex":[0.998714,0.0001383826,0.0001614928,0.0004240146,0.0002338799,0.0003283725],"domain_scores_gemma":[0.9968342,0.001183277,0.0005698281,0.0004143901,0.000252107,0.0007461148],"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":[0.0002604212,0.0002338071,0.0792805,0.00006041671,0.00005208112,0.903773,0.00164279,0.0002778626,0.007360842,0.0002028449,0.0003066263,0.006548754],"study_design_scores_gemma":[0.00004571644,0.0003017144,0.0696425,0.0000128382,0.0000897696,0.9256985,0.0005123391,0.0004243278,0.001961083,0.0002003148,0.001064143,0.00004685371],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9943823,0.0007773821,0.001747534,0.0001580699,0.00004078438,0.00007761438,0.0001970975,0.00008373569,0.00253546],"genre_scores_gemma":[0.9971809,0.000388999,0.001115418,0.00006272512,0.0001162076,0.00004852155,0.0001786336,0.00004746111,0.0008611247],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003257143,"threshold_uncertainty_score":0.01089627,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W1971198708","doi":"10.1007/s10048-014-0436-7","title":"A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia","year":2015,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":51,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research","keywords":"Spinocerebellar ataxia; Frameshift mutation; Ataxia; Genetics; Exome sequencing; Paroxysmal dyskinesia; Sanger sequencing; Mutation; Human genetics; Genetic heterogeneity; Medicine; Biology; Phenotype; Neuroscience; Internal medicine; Dyskinesia; Gene; Parkinson's disease; Disease","authors":[{"name":"Karine Choquet","is_ca":true},{"name":"Roberta La Piana","is_ca":true},{"name":"Bernard Brais","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.06790241752266636,"gpt":0.3045908044879129,"spread":0.2366883869652466,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002722338,0.001685685,0.0009304761,0.001504044,0.001000716,0.0004203007,0.001403465,0.003506666,0.00212329],"category_scores_gemma":[0.001428529,0.0003581997,0.001394277,0.0009802656,0.001141546,0.0003387,0.0007140314,0.0008041709,0.0006730331],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008065347,"about_ca_system_score_gemma":0.0006736812,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003190099,"about_ca_topic_score_gemma":0.003512241,"domain_scores_codex":[0.9996705,0.00003849003,0.00005928349,0.00007788849,0.0000892732,0.0000646922],"domain_scores_gemma":[0.9988403,0.0004523443,0.0003102721,0.00005016088,0.0001001894,0.000246816],"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":[0.000599481,0.0001525386,0.01379122,0.0001089542,0.0002204651,0.894657,0.0002384114,0.000422673,0.08186663,0.0006895156,0.0008911166,0.006362104],"study_design_scores_gemma":[0.0004272883,0.001018584,0.08940302,0.0001018057,0.0007047058,0.8316767,0.0004212562,0.003710931,0.06380954,0.001113186,0.007453618,0.000159338],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9922989,0.0009598049,0.002690673,0.0005623717,0.0003472366,0.00008374932,0.0004578686,0.0001413835,0.002458056],"genre_scores_gemma":[0.9962832,0.0001866296,0.001734282,0.0001722837,0.0001373916,0.00001931644,0.000206045,0.00002901877,0.001231863],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003506666,"threshold_uncertainty_score":0.007103145,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2042774549","doi":"10.1007/s10048-010-0265-2","title":"Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1","year":2011,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":49,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"University of Alberta","funders":"Canadian Institutes of Health Research","keywords":"Biology; Mutation; Leukoencephalopathy; Human genetics; Phenotype; Mitochondrial respiratory chain; Hypotonia; Respiratory chain; Genetics; Pathology; Disease; Mitochondrion; Medicine; Gene","authors":[{"name":"Mariana Ferreira","is_ca":false},{"name":"Alessandra Torraco","is_ca":false},{"name":"Teresa Rizza","is_ca":false},{"name":"Fabiana Fattori","is_ca":false},{"name":"Maria Chiara Meschini","is_ca":false},{"name":"Cinzia Castana","is_ca":false},{"name":"Nancy E. Go","is_ca":true},{"name":"Frank E. Nargang","is_ca":true},{"name":"Margarida Duarte","is_ca":false},{"name":"Fiorella Piemonte","is_ca":false},{"name":"Carlo Dionisi‐Vici","is_ca":false},{"name":"Arnaldo Videira","is_ca":false},{"name":"Laura Vilarinho","is_ca":false},{"name":"Filippo M. Santorelli","is_ca":false},{"name":"Rosalba Carrozzo","is_ca":false},{"name":"Enrico Bertini","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.05197710144529449,"gpt":0.256098634683016,"spread":0.2041215332377215,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004816582,0.003364962,0.001184502,0.001857931,0.001493976,0.000580747,0.001642655,0.00344663,0.003148795],"category_scores_gemma":[0.002813557,0.0006593035,0.0008380983,0.001359679,0.002078208,0.0007852071,0.0008743873,0.001734852,0.0006475309],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009988962,"about_ca_system_score_gemma":0.0008946647,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004115564,"about_ca_topic_score_gemma":0.002989112,"domain_scores_codex":[0.9996471,0.00004577926,0.00004805011,0.00008911111,0.00006718215,0.0001027615],"domain_scores_gemma":[0.9983177,0.000714516,0.0004292582,0.00008539974,0.0001129633,0.0003402438],"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":[0.000469924,0.0000748074,0.005287894,0.00008792536,0.00004563449,0.9784588,0.0001479519,0.0002579454,0.01262896,0.0006222383,0.000343326,0.001574578],"study_design_scores_gemma":[0.0003056934,0.0005752143,0.03498962,0.00003062739,0.0002465557,0.942652,0.000204957,0.002553741,0.01539984,0.001263695,0.001703324,0.00007482293],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9891478,0.0008301008,0.002463933,0.001128969,0.0002318578,0.0001044981,0.0004687823,0.0002335511,0.005390576],"genre_scores_gemma":[0.9972129,0.0001880078,0.00096326,0.0001660091,0.0002014089,0.00001881769,0.0001403309,0.0000241667,0.001085094],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004115564,"threshold_uncertainty_score":0.01053375,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2044566129","doi":"10.1007/s100480100113","title":"Genetic susceptibility to MS: a second stage analysis in Canadian MS families","year":2001,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Multiple Sclerosis Research Studies","field":"Medicine","cited_by":45,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true},"ca_institutions":"Memorial University of Newfoundland; Dalhousie University; Université Laval; Western University; University of Toronto; McMaster University; Queen's University; McGill University; University of Ottawa; Université de Montréal; University of Alberta; University of Calgary; University of British Columbia; University of Manitoba","funders":"","keywords":"Linkage disequilibrium; Genetics; Sibling; Biology; Genome-wide association study; Genetic association; Human genetics; Genetic linkage; Pedigree chart; Linkage (software); Gene; Allele; Haplotype; Single-nucleotide polymorphism; Genotype; Psychology","authors":[{"name":"David A. Dyment","is_ca":false},{"name":"Cristen J. Willer","is_ca":false},{"name":"Beverly Scott","is_ca":true},{"name":"Holly Armstrong","is_ca":true},{"name":"Arturs Ligers","is_ca":false},{"name":"Jan Hillert","is_ca":false},{"name":"Donald W. Paty","is_ca":true},{"name":"Stanley A. Hashimoto","is_ca":true},{"name":"Virginia Devonshire","is_ca":true},{"name":"John P. Hooge","is_ca":true},{"name":"Lorne F. Kastrukoff","is_ca":true},{"name":"Joël Oger","is_ca":true},{"name":"Luanne M. Metz","is_ca":true},{"name":"Sharon Warren","is_ca":true},{"name":"Walter Hader","is_ca":false},{"name":"Anthony Auty","is_ca":true},{"name":"Avindra Nath","is_ca":true},{"name":"Robert Nelson","is_ca":true},{"name":"Mark S. Freedman","is_ca":true},{"name":"Donald Brunet","is_ca":true},{"name":"John E. Paulseth","is_ca":true},{"name":"George P. Rice","is_ca":true},{"name":"Paul O’Connor","is_ca":true},{"name":"Pierre Duquette","is_ca":true},{"name":"Yves Lapierre","is_ca":true},{"name":"Gordon Francis","is_ca":true},{"name":"Jean-Pierre Bouchard","is_ca":true},{"name":"John T. Murray","is_ca":true},{"name":"Virender Bhan","is_ca":true},{"name":"Charles Maxner","is_ca":true},{"name":"William Pryse‐Phillips","is_ca":true},{"name":"Mark Stefanelli","is_ca":true},{"name":"A. Dessa Sadovnick","is_ca":true},{"name":"Neil Risch","is_ca":false},{"name":"George C. Ebers","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.04123174803196519,"gpt":0.3178595871050669,"spread":0.2766278390731017,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001113505,0.001117151,0.001012163,0.003027996,0.008381433,0.001289976,0.001666402,0.001014986,0.005374574],"category_scores_gemma":[0.003694562,0.0006705119,0.001403128,0.005001063,0.0008971047,0.0003993456,0.001410041,0.00117602,0.0004055011],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.01743488,"about_ca_system_score_gemma":0.02542676,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9876897,"about_ca_topic_score_gemma":0.9886778,"domain_scores_codex":[0.9981976,0.0002887884,0.00008513252,0.0003349828,0.0004216125,0.0006719535],"domain_scores_gemma":[0.99783,0.0002943166,0.0002276118,0.0001327952,0.0009762403,0.0005391511],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001417569,0.0002917548,0.9563096,0.00007812356,0.0002339081,0.004326168,0.01310871,0.0005111241,0.003787789,0.001377573,0.002818112,0.01573959],"study_design_scores_gemma":[0.00008584498,0.0001926845,0.989056,0.00005502636,0.0001858543,0.0015258,0.004173121,0.0006687533,0.0004835414,0.0001304242,0.00339846,0.00004446619],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9955124,0.0003074933,0.0002386049,0.0002146747,0.000009755699,0.00007592795,0.001379403,0.000009195798,0.002252584],"genre_scores_gemma":[0.9929658,0.0005721391,0.001233226,0.0001766594,0.000008268099,0.00008502694,0.001062985,0.0000204989,0.003875443],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01743488,"threshold_uncertainty_score":0.1264995,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2119784192","doi":"10.1007/s10048-010-0251-8","title":"Tremor–ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3–10q23.31","year":2010,"lang":"en","type":"article","venue":"Neurogenetics","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":44,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"Hôpital Notre-Dame; Université de Sherbrooke; Centre Hospitalier Universitaire Sainte-Justine; Hôpital de l'Enfant-Jésus; Montreal Children's Hospital; McGill University; Université de Montréal","funders":"Canadian Institutes of Health Research; McGill University; National Institute of Neurological Disorders and Stroke; American Academy of Neurology","keywords":"Ataxia; Leukodystrophy; Disease gene identification; Genetics; Population; Cerebellar ataxia; Biology; Neuroscience; Medicine; Pathology; Mutation; Disease; Exome sequencing; Gene","authors":[{"name":"Geneviève Bernard","is_ca":true},{"name":"Isabelle Thiffault","is_ca":true},{"name":"Martine Tétreault","is_ca":true},{"name":"Maria Lisa Putorti","is_ca":true},{"name":"Isabelle Bouchard","is_ca":false},{"name":"Michel Sylvain","is_ca":false},{"name":"Serge B. Melançon","is_ca":true},{"name":"Rachel Laframboise","is_ca":false},{"name":"Pierre Langevin","is_ca":false},{"name":"Jean‐Pierre Bouchard","is_ca":true},{"name":"Michel Vanasse","is_ca":true},{"name":"Adeline Vanderver","is_ca":false},{"name":"Guillaume Sébire","is_ca":true},{"name":"Bernard Brais","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.005724498746507913,"gpt":0.217038207417752,"spread":0.211313708671244,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001047998,0.0005165944,0.0002766491,0.0006959842,0.0002847684,0.0003868721,0.0003484622,0.0004451842,0.002087336],"category_scores_gemma":[0.0002695842,0.000148387,0.0002137092,0.0006083391,0.0003605256,0.0001051327,0.0003107174,0.0003999445,0.0009224227],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004179583,"about_ca_system_score_gemma":0.000297685,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002587019,"about_ca_topic_score_gemma":0.003970465,"domain_scores_codex":[0.9999101,0.00001504748,0.000007306987,0.00001944073,0.00002939749,0.00001869887],"domain_scores_gemma":[0.9998636,0.00002163363,0.00007074748,0.000006453655,0.00001014369,0.00002732541],"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":[0.001751594,0.0001317051,0.01821373,0.0003156535,0.0002625679,0.0382772,0.0003471063,0.0007767446,0.8453908,0.002740504,0.003149488,0.08864298],"study_design_scores_gemma":[0.0009288857,0.001570612,0.5238077,0.0002892163,0.0006669127,0.2075404,0.0005133146,0.003666555,0.170995,0.005631079,0.08426976,0.0001205781],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9809877,0.004824475,0.00501048,0.0005290572,0.00007975843,0.00007176578,0.0007316715,0.0003164034,0.00744882],"genre_scores_gemma":[0.9939028,0.001249974,0.001394018,0.00009271739,0.0000361593,0.00002449346,0.0006077602,0.00001497978,0.00267711],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002587019,"threshold_uncertainty_score":0.006982803,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2052329462","doi":"10.1007/s10048-003-0150-3","title":"A heteroplasmic mitochondrial complex I gene mutation in adult-onset dystonia","year":2003,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":44,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"McMaster University","funders":"","keywords":"Heteroplasmy; Haplogroup; Genetics; Dystonia; Mitochondrial DNA; Mutation; Biology; Haplotype; Compound heterozygosity; Human mitochondrial DNA haplogroup; Missense mutation; Allele; Gene; Neuroscience","authors":[{"name":"DavidK. Simon","is_ca":false},{"name":"Jennifer Friedman","is_ca":false},{"name":"XandraO. Breakefield","is_ca":false},{"name":"Joseph Jankovic","is_ca":false},{"name":"MitchellF. Brin","is_ca":false},{"name":"John Provias","is_ca":true},{"name":"SusanB. Bressman","is_ca":false},{"name":"Michael E. Charness","is_ca":false},{"name":"Daniel Tarsy","is_ca":false},{"name":"D. R. Johns","is_ca":false},{"name":"MarkA. Tarnopolsky","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01561743402856433,"gpt":0.2488059449484776,"spread":0.2331885109199133,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002268999,0.000754015,0.0006141883,0.0008396687,0.0008483386,0.0002369794,0.0004243677,0.001206836,0.002854299],"category_scores_gemma":[0.001021701,0.0002310683,0.0002389874,0.0005482443,0.0006452091,0.000310437,0.0005098301,0.0004780668,0.0004644895],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003122456,"about_ca_system_score_gemma":0.0002570655,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001598699,"about_ca_topic_score_gemma":0.001683509,"domain_scores_codex":[0.9998261,0.00002507881,0.00003267476,0.00004477378,0.0000371375,0.00003422458],"domain_scores_gemma":[0.9994634,0.0001783477,0.0001394357,0.00003302304,0.00005068957,0.0001352312],"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":[0.002777003,0.0002029779,0.0299394,0.0001502721,0.0001088526,0.7959958,0.0007533788,0.0005149656,0.1564727,0.001494764,0.001513186,0.01007673],"study_design_scores_gemma":[0.0002664332,0.0016555,0.2126328,0.00004589164,0.0002861125,0.7513475,0.0004869312,0.002659837,0.02714728,0.001248605,0.002157283,0.00006574565],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.995838,0.0002529199,0.0007753319,0.0001845207,0.0000509709,0.00002201953,0.0002079868,0.00003770155,0.002630509],"genre_scores_gemma":[0.9986472,0.00007513858,0.000252938,0.00007949298,0.00004832057,0.000007017195,0.00008212437,0.00001213022,0.0007955513],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002854299,"threshold_uncertainty_score":0.009548545,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2097271919","doi":"10.1007/s10048-012-0325-x","title":"A genome-wide analysis of 'Bounty' descendants implicates several novel variants in migraine susceptibility","year":2012,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Migraine and Headache Studies","field":"Medicine","cited_by":44,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"","funders":"National Health and Medical Research Council; Medical Research Council; National Institute of Mental Health; University of Toronto","keywords":"Genetics; Genome-wide association study; Single-nucleotide polymorphism; Missing heritability problem; Biology; Genetic association; Population; Migraine with aura; Human genetics; SNP; Migraine; Heritability; Genetic epidemiology; Bioinformatics; Gene; Medicine; Genotype; Aura; Internal medicine","authors":[{"name":"Hannah C. Cox","is_ca":false},{"name":"Rod A. Lea","is_ca":false},{"name":"Claire Bellis","is_ca":false},{"name":"Melanie A. Carless","is_ca":false},{"name":"Thomas D. Dyer","is_ca":false},{"name":"Joanne E. Curran","is_ca":false},{"name":"Jac Charlesworth","is_ca":false},{"name":"Stuart MacGregor","is_ca":false},{"name":"Dale R. Nyholt","is_ca":false},{"name":"Daniel I. Chasman","is_ca":false},{"name":"Paul M. Ridker","is_ca":false},{"name":"Markus Schürks","is_ca":false},{"name":"John Blangero","is_ca":false},{"name":"Lyn R. Griffiths","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.03888583901366494,"gpt":0.302766929211741,"spread":0.263881090198076,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004736676,0.0005432226,0.0005323843,0.001383451,0.00185821,0.0007473169,0.0005492253,0.0008008311,0.005819352],"category_scores_gemma":[0.001933273,0.0002232341,0.0005760712,0.001466137,0.0004911881,0.0002303424,0.0005900332,0.000703133,0.0003922992],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002323545,"about_ca_system_score_gemma":0.000242772,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0178582,"about_ca_topic_score_gemma":0.0190949,"domain_scores_codex":[0.9994924,0.0001480906,0.00004375954,0.0001449467,0.00007296322,0.00009787796],"domain_scores_gemma":[0.9992871,0.0002479545,0.0001223539,0.00008812404,0.00008560994,0.0001689059],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003821485,0.0002145524,0.8409939,0.0001445352,0.001042033,0.007305056,0.003513705,0.0001921578,0.1216947,0.001081661,0.001355699,0.01864053],"study_design_scores_gemma":[0.00004768166,0.0001973771,0.9926897,0.0000262183,0.000300735,0.002774887,0.0004869691,0.0001781916,0.001582841,0.0001536564,0.001546057,0.00001562711],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983647,0.0002130878,0.0003709848,0.00008478183,0.00001883964,0.000008069424,0.0003532965,0.000009304391,0.0005768334],"genre_scores_gemma":[0.9982523,0.00009948915,0.0005248586,0.00007762935,0.00001558195,0.000007893552,0.0003270307,0.0000190383,0.0006760267],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0178582,"threshold_uncertainty_score":0.03550851,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2999557274","doi":"10.1007/s10048-019-00602-4","title":"POLR3A variants with striatal involvement and extrapyramidal movement disorder","year":2020,"lang":"en","type":"article","venue":"Neurogenetics","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":42,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"University of Saskatchewan; McGill University Health Centre","funders":"Generalitat de Catalunya; Fundación Hesperia; Fundació la Marató de TV3","keywords":"Putamen; Dystonia; Dentate nucleus; Leukodystrophy; Parkinsonism; Globus pallidus; Extrapyramidal symptoms; Compound heterozygosity; Basal ganglia; Pathology; Medicine; Biology; Internal medicine; Neuroscience; Cerebellum; Genetics; Mutation; Psychiatry; Disease; Central nervous system","authors":[{"name":"Inga Harting","is_ca":false},{"name":"Murtadha L. Al‐Saady","is_ca":false},{"name":"Ingeborg Krägeloh‐Mann","is_ca":false},{"name":"Annette Bley","is_ca":false},{"name":"Maja Hempel","is_ca":false},{"name":"Tatjana Bierhals","is_ca":false},{"name":"Stephanie Karch","is_ca":false},{"name":"Ute Moog","is_ca":false},{"name":"Geneviève Bernard","is_ca":true},{"name":"Richard J. Huntsman","is_ca":true},{"name":"Rosalina M.L. van Spaendonk","is_ca":false},{"name":"Maaike Vreeburg","is_ca":false},{"name":"Agustí Rodríguez‐Palmero","is_ca":false},{"name":"Aurora Pujol","is_ca":false},{"name":"Marjo S. van der Knaap","is_ca":false},{"name":"Petra J. W. Pouwels","is_ca":false},{"name":"Nicole I. Wolf","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01141118347117059,"gpt":0.2168671580684547,"spread":0.2054559745972842,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002197419,0.000905362,0.000440352,0.0007517715,0.0006995725,0.0003917786,0.0003058929,0.000521771,0.002021276],"category_scores_gemma":[0.0007021463,0.0003297737,0.0003416284,0.00083316,0.0006162047,0.0001772685,0.0004131467,0.0003885505,0.0004427816],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003156743,"about_ca_system_score_gemma":0.000302377,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002690332,"about_ca_topic_score_gemma":0.0055703,"domain_scores_codex":[0.9997244,0.00003248677,0.00004544276,0.0000849305,0.0000553455,0.00005742932],"domain_scores_gemma":[0.9995801,0.00008557879,0.0001690917,0.00002918096,0.00003340206,0.0001027249],"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":[0.0009611557,0.0001757804,0.4772646,0.0001994611,0.0002662168,0.4410951,0.001434068,0.0002711301,0.06192162,0.0004949972,0.0008033855,0.01511252],"study_design_scores_gemma":[0.0000660999,0.0003447829,0.4394783,0.00003698375,0.0001239075,0.5553663,0.000225975,0.0002295554,0.002612149,0.0001795355,0.001311629,0.00002479382],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973943,0.0006008638,0.0002766851,0.00004446123,0.000006714421,0.00001871601,0.0001701398,0.00002108541,0.001467066],"genre_scores_gemma":[0.9991007,0.0001564069,0.0001911796,0.00006463344,0.0000164637,0.000005373553,0.0001453181,0.00001077351,0.0003093562],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002690332,"threshold_uncertainty_score":0.006761849,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W1664505274","doi":"10.1007/s100480100123","title":"Mutations in the open reading frame of the β-site APP cleaving enzyme (BACE) locus are not a common cause of Alzheimer's disease","year":2001,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Alzheimer's disease research and treatments","field":"Medicine","cited_by":40,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Surrey Place Centre; University of Toronto; University Health Network","funders":"National Institute on Aging; U.S. Public Health Service","keywords":"Open reading frame; Genetics; Biology; Locus (genetics); Gene; Amyloid precursor protein; Allele; Pathogenesis; Alzheimer's disease; Coding region; Disease; Peptide sequence; Medicine","authors":[{"name":"Michael Nicolaou","is_ca":false},{"name":"You‐Qiang Song","is_ca":true},{"name":"Christine Sato","is_ca":true},{"name":"Antonio Orlacchio","is_ca":false},{"name":"Toshitaka Kawarai","is_ca":true},{"name":"Helena Medeiros","is_ca":true},{"name":"Yuh‐Jin Liang","is_ca":true},{"name":"Sandro Sorbi","is_ca":false},{"name":"Edo Richard","is_ca":true},{"name":"Е. И. Рогаев","is_ca":true},{"name":"Yuri K. Moliaka","is_ca":true},{"name":"Amalia C. Bruni","is_ca":false},{"name":"Ricardo E. Jorge","is_ca":false},{"name":"M. E. Percy","is_ca":true},{"name":"Ranjan Duara","is_ca":false},{"name":"Lindsay A. Farrer","is_ca":false},{"name":"Peter St George‐Hyslop","is_ca":true},{"name":"E. Rogaeva","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.06310191869045047,"gpt":0.3486466815939777,"spread":0.2855447629035272,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004425845,0.0008282887,0.0007793396,0.001671898,0.0006965466,0.000499974,0.0005230555,0.00182065,0.003202101],"category_scores_gemma":[0.002716246,0.0003125959,0.0004198402,0.0006295647,0.0010546,0.0004691969,0.0005091538,0.001052166,0.0009445008],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001811626,"about_ca_system_score_gemma":0.0001885186,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003520882,"about_ca_topic_score_gemma":0.0004458848,"domain_scores_codex":[0.9992954,0.0001040947,0.0001361415,0.0001886218,0.0001889376,0.00008687095],"domain_scores_gemma":[0.9982834,0.0006730162,0.0004994173,0.0001875086,0.0001238622,0.0002328103],"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":[0.00317165,0.0005988584,0.0982906,0.0002835333,0.0003876461,0.1146114,0.001239789,0.000361708,0.7497963,0.005701157,0.001622094,0.02393517],"study_design_scores_gemma":[0.0007171181,0.001306638,0.435833,0.0002023915,0.0008392388,0.3920984,0.0007833125,0.00145045,0.1436585,0.006408083,0.01654764,0.0001551627],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9949911,0.0009021763,0.001310847,0.0002784035,0.0001630899,0.000016132,0.0002699754,0.00006203479,0.00200619],"genre_scores_gemma":[0.9975526,0.0003502655,0.0006267727,0.0001078576,0.0001301546,0.00000932097,0.0002918929,0.00002897588,0.0009022949],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003202101,"threshold_uncertainty_score":0.01071215,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2098945832","doi":"10.1007/s10048-013-0366-9","title":"Autosomal recessive hereditary spastic paraplegia—clinical and genetic characteristics of a well-defined cohort","year":2013,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":38,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"North York General Hospital; Children's Hospital of Eastern Ontario; Hospital for Sick Children; London Health Sciences Centre; McMaster University; University of Toronto","funders":"National Institutes of Health","keywords":"Hereditary spastic paraplegia; Cohort; Human genetics; Genetic testing; Medicine; Spastic; Disease; Genetics; Pediatrics; Pathology; Internal medicine; Biology; Gene; Phenotype; Physical therapy","authors":[{"name":"Grace Yoon","is_ca":true},{"name":"Berivan Baskin","is_ca":true},{"name":"Mark A. Tarnopolsky","is_ca":true},{"name":"Kym M. Boycott","is_ca":true},{"name":"Michael T. Geraghty","is_ca":true},{"name":"Erick Sell","is_ca":true},{"name":"Sharan Goobie","is_ca":true},{"name":"Wendy S. Meschino","is_ca":true},{"name":"Brenda Banwell","is_ca":true},{"name":"Peter N. Ray","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.0288573372883885,"gpt":0.2670532783197471,"spread":0.2381959410313586,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004736902,0.0008558163,0.0008720335,0.00188055,0.002027977,0.001112762,0.0009042878,0.0007224693,0.004043967],"category_scores_gemma":[0.002454513,0.0004921117,0.0006187164,0.001312636,0.0008421844,0.0008147466,0.001468445,0.0006655444,0.0007178091],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003589633,"about_ca_system_score_gemma":0.0005403014,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005003585,"about_ca_topic_score_gemma":0.004182266,"domain_scores_codex":[0.9990469,0.0001727469,0.0001072984,0.0003613416,0.0001388447,0.0001729215],"domain_scores_gemma":[0.998877,0.0001833788,0.000264909,0.0001432335,0.0001559803,0.0003754996],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005524533,0.0002960235,0.9874791,0.00001212454,0.0001135535,0.005250809,0.0008159714,0.00006561843,0.002538613,0.0001930692,0.0003961163,0.002286533],"study_design_scores_gemma":[0.00004336562,0.0003313822,0.9833784,0.00001276143,0.0000641799,0.01384087,0.001214129,0.0001950367,0.0001794659,0.0001555044,0.0005646072,0.00002042172],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989011,0.00011991,0.0001271471,0.00003043421,0.000005715883,0.00001436411,0.0002914814,0.000003871712,0.0005058984],"genre_scores_gemma":[0.998509,0.0001277414,0.0001017344,0.00003537475,0.0000232457,0.00002417364,0.0008638769,0.000008764135,0.0003061708],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005003585,"threshold_uncertainty_score":0.01352841,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2060759590","doi":"10.1007/s10048-014-0403-3","title":"Genetic variants in IL2RA and IL7R affect multiple sclerosis disease risk and progression","year":2014,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Multiple Sclerosis Research Studies","field":"Medicine","cited_by":38,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"University of British Columbia","funders":"Canadian Institutes of Health Research; Canada Excellence Research Chairs, Government of Canada; Canada Research Chairs","keywords":"Disease; Odds ratio; Multiple sclerosis; Family history; Genetic association; Medicine; Internal medicine; Genotyping; Biology; Oncology; Genetics; Genotype; Immunology; Single-nucleotide polymorphism; Gene","authors":[{"name":"Anthony Traboulsee","is_ca":true},{"name":"Cecily Q. Bernales","is_ca":true},{"name":"Jay P. Ross","is_ca":true},{"name":"Joshua D. Lee","is_ca":true},{"name":"A. Dessa Sadovnick","is_ca":true},{"name":"Carles Vilariño‐Güell","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.04362144759612199,"gpt":0.2994016019063366,"spread":0.2557801543102146,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001074712,0.0008845714,0.0005392442,0.001441687,0.0005153698,0.0009684017,0.0006741909,0.001346126,0.00322245],"category_scores_gemma":[0.003545039,0.0003617748,0.001052479,0.001193166,0.000453993,0.0006193541,0.0004993568,0.0007649146,0.0004647071],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001949683,"about_ca_system_score_gemma":0.000253407,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002698581,"about_ca_topic_score_gemma":0.001782509,"domain_scores_codex":[0.998908,0.0004966752,0.0001106277,0.0002244488,0.0001408371,0.0001192928],"domain_scores_gemma":[0.9977175,0.0009160709,0.0007493828,0.0001968674,0.0002164369,0.000203739],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002793777,0.0002439651,0.9748694,0.00004939408,0.001234051,0.001487335,0.0005460071,0.0001930284,0.01177981,0.000252457,0.0003194218,0.006231347],"study_design_scores_gemma":[0.00008860405,0.0003115165,0.9938557,0.00003228054,0.0006068299,0.0019576,0.0003135552,0.0004030316,0.001491049,0.0003644756,0.0005603197,0.00001510473],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980375,0.0006667448,0.0002357132,0.00009460372,0.00001410451,0.0000047006,0.0001627311,0.00001373471,0.0007701001],"genre_scores_gemma":[0.9985885,0.0001848737,0.0002596007,0.00004646019,0.0000266089,0.000006992721,0.000201565,0.0000127932,0.0006724112],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00322245,"threshold_uncertainty_score":0.0107801,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2094594814","doi":"10.1007/s10048-005-0220-9","title":"Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis","year":2005,"lang":"en","type":"article","venue":"Neurogenetics","topic":"RNA modifications and cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":36,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true},"ca_institutions":"Université de Montréal; North York General Hospital; Montreal Neurological Institute and Hospital; University of Toronto; Innovation Initiatives Ontario North; McGill University","funders":"Wellcome Trust","keywords":"Genetics; Founder effect; Compound heterozygosity; Biology; Pedigree chart; Allele; Mutation; Haplotype; Exon; Chorea; Human genetics; Allelic heterogeneity; Population; Gene; Disease; Medicine; Internal medicine","authors":[{"name":"Carol Dobson‐Stone","is_ca":false},{"name":"Antonio Velayos‐Baeza","is_ca":false},{"name":"Anna Jansen","is_ca":true},{"name":"Frédérick Andermann","is_ca":true},{"name":"François Dubeau","is_ca":true},{"name":"Francine Robert","is_ca":true},{"name":"Anne Summers","is_ca":true},{"name":"Anthony E. Lang","is_ca":true},{"name":"Sylvain Chouinard","is_ca":true},{"name":"Adrian Danek","is_ca":false},{"name":"Eva Andermann","is_ca":true},{"name":"Anthony P. Monaco","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.008083713878919478,"gpt":0.2346830834908698,"spread":0.2265993696119503,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002024921,0.001805484,0.0006397881,0.00349724,0.004179548,0.0008091886,0.001115908,0.001679659,0.007530562],"category_scores_gemma":[0.001173633,0.00045204,0.0008913887,0.002631362,0.001822225,0.0002621936,0.0007291409,0.0007877368,0.0004323839],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.004295338,"about_ca_system_score_gemma":0.006296591,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.6501095,"about_ca_topic_score_gemma":0.6096125,"domain_scores_codex":[0.9994261,0.00003881159,0.00003907245,0.0001294769,0.0001678109,0.0001986783],"domain_scores_gemma":[0.9994256,0.0001494936,0.00008595397,0.00002078377,0.0001531477,0.0001651578],"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":[0.0007922194,0.0001971572,0.1415204,0.0001842967,0.0002397665,0.7027403,0.005083613,0.001618459,0.1118544,0.003800083,0.003089727,0.02887964],"study_design_scores_gemma":[0.0001364568,0.0002757797,0.3664647,0.0001952164,0.0005243508,0.587829,0.003930766,0.003352969,0.0206038,0.0009348879,0.01554141,0.0002105994],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9874504,0.0008598393,0.001201416,0.0007837711,0.00008468192,0.00006701268,0.0008581239,0.00007968235,0.008615178],"genre_scores_gemma":[0.9956889,0.0003438107,0.0009571879,0.0001013268,0.00002400214,0.00001415548,0.0001504063,0.00002445132,0.002695797],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3498905,"threshold_uncertainty_score":0.7039021,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2107152117","doi":"10.1007/s100480100121","title":"Mapping of a susceptibility gene for multiple sclerosis to the 51 kb interval between G511525 and D6S1666 using a new method of haplotype sharing analysis","year":2001,"lang":"en","type":"article","venue":"Neurogenetics","topic":"T-cell and Retrovirus Studies","field":"Immunology and Microbiology","cited_by":35,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Ontario Genomics","funders":"","keywords":"Haplotype; Linkage disequilibrium; Genetics; Biology; Human leukocyte antigen; Haplotype estimation; Microsatellite; Allele; Genetic association; Human genetics; Gene; Genotype; Single-nucleotide polymorphism; Antigen","authors":[{"name":"Maartje Boon","is_ca":false},{"name":"Ilja M. Nolte","is_ca":false},{"name":"Marcel Bruinenberg","is_ca":false},{"name":"Geert T. Spijker","is_ca":false},{"name":"P. Terpstra","is_ca":false},{"name":"John Raelson","is_ca":true},{"name":"Jacques De Keyser","is_ca":false},{"name":"Cees P. Zwanikken","is_ca":false},{"name":"Miriam Hulsbeek","is_ca":false},{"name":"Robert M.W. Hofstra","is_ca":false},{"name":"Charles H.C.M. Buys","is_ca":false},{"name":"Gerard J. te Meerman","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.1144601812841429,"gpt":0.3120234752867966,"spread":0.1975632940026537,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006395906,0.0003505717,0.000609262,0.002038911,0.0004988691,0.0003268764,0.0004401709,0.0003316278,0.002442933],"category_scores_gemma":[0.001241146,0.0002951946,0.0005316723,0.001182827,0.0004097145,0.0002345664,0.0005354017,0.0005596325,0.0003158501],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002283451,"about_ca_system_score_gemma":0.0002654826,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001323412,"about_ca_topic_score_gemma":0.002449694,"domain_scores_codex":[0.9994839,0.0001989882,0.0000322329,0.0001505069,0.00007789423,0.0000563679],"domain_scores_gemma":[0.9987391,0.0008253714,0.0001541436,0.0001313653,0.00005006519,0.00009993467],"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":[0.002905952,0.0004702105,0.05124253,0.0001582953,0.0005224106,0.002094924,0.001093123,0.004392106,0.8512129,0.004560881,0.0004032874,0.08094342],"study_design_scores_gemma":[0.001576457,0.003002447,0.6667317,0.0001373147,0.001588897,0.008741308,0.0007860008,0.05031055,0.2433446,0.009863666,0.01373744,0.0001796192],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9710813,0.0001870496,0.02672503,0.00004599529,0.00001834525,0.00007621411,0.0002597387,0.00005237705,0.001553969],"genre_scores_gemma":[0.9714446,0.0001014261,0.02704622,0.00002701538,0.00002291589,0.00006393505,0.0005709523,0.00002031413,0.000702435],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002442933,"threshold_uncertainty_score":0.008172393,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2084660664","doi":"10.1007/s10048-008-0122-8","title":"Further examination of the candidate genes in chromosome 12p13 locus for late-onset Alzheimer disease","year":2008,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":34,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Toronto Western Hospital; University of Toronto","funders":"National Institute on Aging; National Center for Research Resources; Wellcome Trust","keywords":"Haplotype; Single-nucleotide polymorphism; Genetics; Allele; Biology; Locus (genetics); Microsatellite; Gene; Genotype","authors":[{"name":"Joseph H. Lee","is_ca":false},{"name":"Rong Cheng","is_ca":false},{"name":"Ekaterina Rogaeva","is_ca":true},{"name":"Yan Meng","is_ca":false},{"name":"Yaakov Stern","is_ca":false},{"name":"Vincent Santana","is_ca":false},{"name":"Rafael Lantigua","is_ca":false},{"name":"Martin Medrano","is_ca":false},{"name":"Ivonne Z. Jiménez‐Velázquez","is_ca":false},{"name":"Lindsay A. Farrer","is_ca":false},{"name":"Peter St George‐Hyslop","is_ca":true},{"name":"Richard Mayeux","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.02179737693539116,"gpt":0.2561867771367316,"spread":0.2343894002013404,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001080994,0.0009644107,0.0009860368,0.002745061,0.001003253,0.0005758404,0.0007997581,0.0009349884,0.008296568],"category_scores_gemma":[0.00223459,0.0002910036,0.001168442,0.00218335,0.0003972911,0.0005360334,0.0005647221,0.0009029442,0.0007648818],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003011117,"about_ca_system_score_gemma":0.0006247986,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008009917,"about_ca_topic_score_gemma":0.006965267,"domain_scores_codex":[0.9996221,0.0001351978,0.00003007802,0.0000716357,0.00005493442,0.00008609056],"domain_scores_gemma":[0.9986236,0.0007699353,0.0001455371,0.00007354306,0.0002161176,0.0001712529],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.005982191,0.001115816,0.7006562,0.0004628231,0.0007011628,0.03470678,0.001865821,0.001127088,0.1883059,0.002667562,0.0023985,0.06001009],"study_design_scores_gemma":[0.0002508909,0.0008975619,0.9601774,0.00005797088,0.0004300557,0.0141514,0.001460147,0.0009648716,0.01193152,0.001708499,0.007939345,0.00003031549],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9875605,0.001773454,0.004425282,0.001054632,0.00003633502,0.00008601537,0.0009205227,0.00004449865,0.004098773],"genre_scores_gemma":[0.9843203,0.001359594,0.005596682,0.0004194452,0.0001023369,0.0001120443,0.001501421,0.00002647855,0.006561718],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008296568,"threshold_uncertainty_score":0.02775484,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2052103977","doi":"10.1007/s10048-012-0320-2","title":"Forkhead family transcription factor FoxO and neural differentiation","year":2012,"lang":"en","type":"review","venue":"Neurogenetics","topic":"FOXO transcription factor regulation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":31,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Douglas Mental Health University Institute; McGill University","funders":"","keywords":"Forkhead Transcription Factors; Transcription factor; Biology; Signal transduction; Cellular differentiation; Cell biology; Genetics; Gene","authors":[{"name":"Qiang Wen","is_ca":false},{"name":"Haitao Wang","is_ca":false},{"name":"Peter J. Little","is_ca":false},{"name":"Rémi Quirion","is_ca":true},{"name":"Wenhua Zheng","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.0749918439841333,"gpt":0.3010358310708787,"spread":0.2260439870867454,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000584184,0.0009863648,0.001188916,0.001347772,0.0003111627,0.0009278795,0.0009354852,0.001146188,0.002468104],"category_scores_gemma":[0.0004583417,0.0003216288,0.000311144,0.001890983,0.0009309318,0.001225679,0.0007652409,0.001921116,0.001442834],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008286617,"about_ca_system_score_gemma":0.001020818,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001323182,"about_ca_topic_score_gemma":0.003110948,"domain_scores_codex":[0.9998795,0.00001262486,0.00001690418,0.00002656328,0.00004767326,0.00001669075],"domain_scores_gemma":[0.9998597,0.00004678762,0.00002130091,0.000006811011,0.00004220795,0.00002320896],"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":[0.0001379181,0.0000642095,0.0001922555,0.005994589,0.00006483627,0.0002581921,0.00004167828,0.0004281791,0.004264538,0.005393085,0.04959282,0.9335677],"study_design_scores_gemma":[0.00002434247,0.00003032221,0.0006347054,0.000880197,0.00007165474,0.0007960434,0.00004022695,0.00009096946,0.0008309278,0.002565202,0.9940188,0.00001675769],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0001513306,0.9973912,0.0003220751,0.00044264,0.0004500542,0.000002988461,0.00002257876,0.00001015741,0.001206965],"genre_scores_gemma":[0.001106765,0.996051,0.0003911127,0.0002817987,0.0005041459,0.000005939877,0.00005026095,0.000002996446,0.00160592],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.002468104,"threshold_uncertainty_score":0.008256674,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2079164010","doi":"10.1007/s10048-014-0413-1","title":"A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroids","year":2014,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Neuroinflammation and Neurodegeneration Mechanisms","field":"Neuroscience","cited_by":30,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"","keywords":"Leukoencephalopathy; Missense mutation; Pathology; Leukodystrophy; Penetrance; White matter; CADASIL; Biology; Mutation; Medicine; Genetics; Phenotype; Gene; Magnetic resonance imaging; Disease","authors":[{"name":"Roberta La Piana","is_ca":true},{"name":"Alina Webber","is_ca":true},{"name":"Marie‐Christine Guiot","is_ca":true},{"name":"Maria Cortes","is_ca":true},{"name":"Bernard Brais","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.02637875579046805,"gpt":0.2314671774935737,"spread":0.2050884217031057,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002500592,0.001317482,0.000748683,0.001089641,0.0007243838,0.0004730967,0.0005809228,0.001817163,0.001555853],"category_scores_gemma":[0.001056654,0.0003150119,0.0006679097,0.0006458946,0.001214415,0.0004491837,0.0007825494,0.0007803871,0.0005144493],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007009917,"about_ca_system_score_gemma":0.0004084907,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001155146,"about_ca_topic_score_gemma":0.0009493894,"domain_scores_codex":[0.9996989,0.0000368657,0.00005013051,0.00009206889,0.00007195926,0.00005011693],"domain_scores_gemma":[0.9990478,0.0003902912,0.0002442869,0.00009215497,0.0000426438,0.0001828091],"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":[0.000768141,0.0001805631,0.00811605,0.0001326842,0.0001306676,0.7276177,0.0005152031,0.0008741146,0.253463,0.001540825,0.001141496,0.005519637],"study_design_scores_gemma":[0.0002647082,0.00061317,0.0457169,0.00004865265,0.0002220866,0.8088892,0.0003869285,0.005320949,0.1296284,0.002037238,0.006733926,0.0001378888],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9950017,0.0004396848,0.002127626,0.0003235768,0.00008893349,0.00005495528,0.0004328801,0.0002177027,0.001312845],"genre_scores_gemma":[0.9979404,0.0001251059,0.001036313,0.00004618697,0.00003030804,0.00001262402,0.0001429178,0.00003916967,0.0006269318],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001817163,"threshold_uncertainty_score":0.005204856,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2035829669","doi":"10.1007/s10048-007-0088-y","title":"Identification of the porcine homologous of human disease causing trinucleotide repeat sequences","year":2007,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":30,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Royal Ottawa Mental Health Centre","funders":"Danmarks Grundforskningsfond","keywords":"Biology; Trinucleotide repeat expansion; Genetics; Huntingtin; Gene; Genome; Homologous recombination; Allele; Human genetics; Homologous chromosome; Human genome; Mutant","authors":[{"name":"Lone Bruhn Madsen","is_ca":false},{"name":"Bo Thomsen","is_ca":false},{"name":"Christina Ane Elisabeth Sølvsten","is_ca":false},{"name":"Christian Bendixen","is_ca":false},{"name":"Merete Fredholm","is_ca":true},{"name":"Arne Lund Jørgensen","is_ca":false},{"name":"Anders Lade Nielsen","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.03487765307801712,"gpt":0.2978311754931561,"spread":0.262953522415139,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003014558,0.0003471692,0.0003937672,0.0006996478,0.0003521077,0.0004615093,0.000379388,0.0008948178,0.003432353],"category_scores_gemma":[0.0005576552,0.0002715937,0.0005820398,0.0003618389,0.0003681938,0.00022954,0.000327153,0.0008515551,0.001182487],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000217862,"about_ca_system_score_gemma":0.0002561896,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000814783,"about_ca_topic_score_gemma":0.0008717627,"domain_scores_codex":[0.999811,0.00003508836,0.00001710708,0.00007868304,0.00002175096,0.00003637578],"domain_scores_gemma":[0.9991921,0.0003000208,0.0001551446,0.0001161331,0.00008218783,0.0001544939],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0006926322,0.0001005519,0.005225827,0.0001257334,0.00005508672,0.003064462,0.0001750928,0.0002667917,0.9825602,0.001115459,0.0003718937,0.006246303],"study_design_scores_gemma":[0.0002859895,0.006631309,0.345555,0.0003171472,0.0005231356,0.0518754,0.0009633452,0.006641677,0.5103431,0.002916915,0.0738103,0.0001366283],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9754411,0.001263275,0.01290049,0.0002799792,0.0002637584,0.0001067599,0.002041297,0.00009285327,0.007610516],"genre_scores_gemma":[0.9741843,0.000742326,0.01241038,0.0003600589,0.0001222924,0.00008776211,0.007459008,0.00006205586,0.004571739],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003432353,"threshold_uncertainty_score":0.01148242,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2038987291","doi":"10.1007/s10048-007-0103-3","title":"Age-at-onset linkage analysis in Caribbean Hispanics with familial late-onset Alzheimer’s disease","year":2007,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Dementia and Cognitive Impairment Research","field":"Medicine","cited_by":28,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"Toronto Western Hospital; University of Toronto","funders":"National Institute of Neurological Disorders and Stroke; National Heart, Lung, and Blood Institute; Canadian Institutes of Health Research; Health Canada; National Institute on Aging; National Institutes of Health; Wellcome Trust","keywords":"Human genetics; Linkage (software); Age of onset; Disease; Medicine; Early-onset Alzheimer's disease; Genetic linkage; Demography; Alzheimer's disease; Genetics; Pediatrics; Gerontology; Internal medicine; Biology; Gene","authors":[{"name":"Joseph H. Lee","is_ca":false},{"name":"Sandra Barral","is_ca":false},{"name":"Rong Cheng","is_ca":false},{"name":"Inara J. Chacón","is_ca":false},{"name":"Vincent Santana","is_ca":false},{"name":"Jennifer Williamson","is_ca":false},{"name":"Rafael Lantigua","is_ca":false},{"name":"Martin Medrano","is_ca":false},{"name":"Ivonne Z. Jiménez‐Velázquez","is_ca":false},{"name":"Yaakov Stern","is_ca":false},{"name":"Benjamin Tycko","is_ca":false},{"name":"Ekaterina Rogaeva","is_ca":true},{"name":"Yosuke Wakutani","is_ca":true},{"name":"Toshitaka Kawarai","is_ca":true},{"name":"Peter St George‐Hyslop","is_ca":true},{"name":"Richard Mayeux","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.02362755699119699,"gpt":0.3062586519473325,"spread":0.2826310949561355,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001209881,0.0005244951,0.0003796018,0.001997195,0.001641057,0.0006251834,0.0005291518,0.0004661577,0.003255464],"category_scores_gemma":[0.003052157,0.0002516489,0.000449873,0.00207317,0.0002957867,0.0002286135,0.0006994714,0.0003943417,0.0001861354],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005108324,"about_ca_system_score_gemma":0.0006517274,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.07025307,"about_ca_topic_score_gemma":0.04898755,"domain_scores_codex":[0.9992976,0.0003436499,0.00004215832,0.0001277258,0.00005828283,0.0001306251],"domain_scores_gemma":[0.9989656,0.0004148965,0.0001976332,0.0001058934,0.0001584918,0.0001573906],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004472829,0.0004401022,0.9531078,0.00005231487,0.0004139025,0.005299248,0.004901291,0.0002009441,0.01731478,0.0007555495,0.0004419006,0.01259931],"study_design_scores_gemma":[0.0001625389,0.0005875116,0.9850429,0.00006220341,0.0005153228,0.004588287,0.004313965,0.0009375127,0.00173699,0.0003806302,0.001643757,0.00002829762],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990483,0.000107535,0.0001431791,0.00003709014,0.000002630881,0.00000729263,0.0001363116,0.000002913256,0.0005147516],"genre_scores_gemma":[0.9991856,0.00009778645,0.0002081423,0.00002099728,0.000002532609,0.000008440695,0.000117187,0.000003736823,0.0003556941],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07025307,"threshold_uncertainty_score":0.1396883,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W3180519773","doi":"10.1007/s10048-021-00655-4","title":"ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants","year":2021,"lang":"en","type":"article","venue":"Neurogenetics","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":28,"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; Alberta Health Services","funders":"Universitätsklinikum Hamburg-Eppendorf; Werner Otto Stiftung; Deutsche Forschungsgemeinschaft","keywords":"Phenotype; Frameshift mutation; Genetics; Loss function; Biology; Nonsense; Missense mutation; Compound heterozygosity; Neurodevelopmental disorder; Autism spectrum disorder; Gene isoform; Autism; Gene; Medicine","authors":[{"name":"Katja Kloth","is_ca":false},{"name":"Bernarda Lozić","is_ca":false},{"name":"Julia Tagoe","is_ca":true},{"name":"Mariëtte J.V. Hoffer","is_ca":false},{"name":"Amelie van der Ven","is_ca":false},{"name":"Hölger Thiele","is_ca":false},{"name":"Janine Altmüller","is_ca":false},{"name":"Christian Kubisch","is_ca":false},{"name":"Ping Yee Billie Au","is_ca":true},{"name":"Jonas Denecke","is_ca":false},{"name":"Emilia K. Bijlsma","is_ca":false},{"name":"Davor Lessel","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.008776738775813222,"gpt":0.2327566949505715,"spread":0.2239799561747583,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001569915,0.001019291,0.0003551521,0.001056038,0.0005040298,0.000231459,0.0002930754,0.0003710073,0.002278767],"category_scores_gemma":[0.0003665043,0.0001308374,0.0002245148,0.000396658,0.0006350729,0.0002485003,0.0007375122,0.0003571991,0.0003338417],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001609149,"about_ca_system_score_gemma":0.0002118971,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009209711,"about_ca_topic_score_gemma":0.001208094,"domain_scores_codex":[0.999827,0.00002043048,0.00002448676,0.00006406444,0.00003593713,0.00002809446],"domain_scores_gemma":[0.9998437,0.00005049979,0.00004162352,0.0000152107,0.00001750213,0.00003148839],"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":[0.0006596345,0.0001610196,0.1352615,0.000157684,0.00009735396,0.1566367,0.001902133,0.0007494892,0.6568662,0.002394118,0.0006642558,0.04444994],"study_design_scores_gemma":[0.00005716796,0.0004845667,0.375788,0.00008955243,0.0002236633,0.5207726,0.0008029338,0.001347742,0.09221004,0.002320972,0.005836972,0.00006571997],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9947984,0.0004384884,0.002143867,0.0000844164,0.000007524898,0.00001603509,0.0002327759,0.00005281217,0.002225634],"genre_scores_gemma":[0.9971159,0.0002961942,0.001768932,0.00004118334,0.00001154582,0.00001104492,0.0001415397,0.00002047181,0.0005932587],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002278767,"threshold_uncertainty_score":0.007623255,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2416272916","doi":"10.1007/s10048-016-0486-0","title":"A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia","year":2016,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Ion channel regulation and function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":26,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Hospital for Sick Children; Toronto General Hospital; SickKids Foundation; University Health Network; University of Toronto; Ottawa Hospital; Toronto Western Hospital; University of Ottawa","funders":"Medical Research Council","keywords":"Myokymia; Missense mutation; RYR1; Malignant hyperthermia; Channelopathy; Genetics; Mutation; Biology; Phenotype; Ataxia; Gene; Cancer research; Medicine; Pathology; Neuroscience; Ryanodine receptor; Receptor","authors":[{"name":"Tiago Mestre","is_ca":true},{"name":"Andreea Manole","is_ca":false},{"name":"H. Robson MacDonald","is_ca":true},{"name":"Sheila Riazi","is_ca":true},{"name":"Natalia Kraeva","is_ca":true},{"name":"Michael G. Hanna","is_ca":false},{"name":"Anthony E. Lang","is_ca":true},{"name":"Roope Männikkö","is_ca":false},{"name":"Grace Yoon","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01359038394600791,"gpt":0.2155844601413839,"spread":0.201994076195376,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002381173,0.002198254,0.000859208,0.002128941,0.002547611,0.0006933094,0.001504657,0.003789104,0.003479325],"category_scores_gemma":[0.00244147,0.0005209049,0.0009584054,0.001027647,0.001622448,0.0007328843,0.001034258,0.001312506,0.0006175505],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009606718,"about_ca_system_score_gemma":0.0007735297,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002729744,"about_ca_topic_score_gemma":0.002126144,"domain_scores_codex":[0.9995407,0.00004072478,0.0000548085,0.0001756687,0.00006213364,0.0001260649],"domain_scores_gemma":[0.9986274,0.0005268489,0.0002521141,0.00006135372,0.00009017613,0.0004421189],"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":[0.00008485781,0.00003096293,0.005335023,0.00001753925,0.00001339188,0.9862549,0.000244136,0.0000877096,0.006804947,0.0002245212,0.0001709014,0.0007311522],"study_design_scores_gemma":[0.00002966669,0.0001061051,0.01162633,0.00001344984,0.00005290616,0.9837756,0.0001358783,0.000516527,0.002760799,0.0002070138,0.0007502316,0.00002551112],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9930629,0.0005706502,0.001496752,0.001041314,0.00017567,0.00004287736,0.0002635678,0.0001140304,0.00323215],"genre_scores_gemma":[0.9984803,0.00009426789,0.0004067907,0.000130951,0.0001168346,0.00000931051,0.00005748303,0.00001895757,0.0006850311],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003789104,"threshold_uncertainty_score":0.01163954,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W1968980213","doi":"10.1007/s10048-014-0411-3","title":"AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset","year":2014,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":24,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"BC Children's Hospital; B.C. Women's Hospital & Health Centre; Child and Family Research Institute; University of British Columbia","funders":"Canadian Institutes of Health Research","keywords":"Microcephaly; Atrophy; Pathology; Myelin; Medicine; Neuroscience; White matter; Disease; Differential diagnosis; Exome sequencing; Mutation; Biology; Pediatrics; Magnetic resonance imaging; Genetics; Central nervous system","authors":[{"name":"Linlea Armstrong","is_ca":false},{"name":"Roberta Biancheri","is_ca":false},{"name":"Casper Shyr","is_ca":true},{"name":"Andrea Rossi","is_ca":false},{"name":"Graham Sinclair","is_ca":true},{"name":"Colin J.D. Ross","is_ca":true},{"name":"Maja Tarailo‐Graovac","is_ca":true},{"name":"Wyeth W. Wasserman","is_ca":true},{"name":"Clara van Karnebeek","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01994509562718577,"gpt":0.2577579300266643,"spread":0.2378128343994785,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000195365,0.002442498,0.0005648241,0.001794279,0.0005142353,0.0005579314,0.0006846942,0.001445759,0.003278858],"category_scores_gemma":[0.00106469,0.0004173756,0.0004273297,0.001023783,0.0007818792,0.0004093774,0.0008927449,0.0007158802,0.0008265151],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000325353,"about_ca_system_score_gemma":0.0003504785,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008834953,"about_ca_topic_score_gemma":0.0008045117,"domain_scores_codex":[0.9998015,0.00002756271,0.00002714342,0.00004959231,0.00003490529,0.00005926231],"domain_scores_gemma":[0.9994324,0.0001511421,0.0002089537,0.00004101348,0.0000453514,0.0001210759],"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":[0.0005547743,0.00006699125,0.02472324,0.0002393389,0.00007896601,0.9052929,0.0003231612,0.0001438196,0.05608502,0.0006519441,0.001415094,0.01042474],"study_design_scores_gemma":[0.00003311087,0.0001758002,0.05455872,0.00006320662,0.0001612951,0.9254156,0.0002348805,0.000363789,0.01509105,0.0006807306,0.003190045,0.00003186496],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9824939,0.002762425,0.002310936,0.0007195752,0.0001116842,0.00006393391,0.0007960735,0.0003155771,0.01042582],"genre_scores_gemma":[0.9950787,0.001114963,0.001572101,0.000113733,0.0001000377,0.00002759473,0.0003350165,0.00005398387,0.001603841],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003278858,"threshold_uncertainty_score":0.01096886,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2149294141","doi":"10.1007/s10048-006-0076-7","title":"Large germline deletions and duplication in isolated cerebral cavernous malformation patients","year":2007,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Vascular Malformations Diagnosis and Treatment","field":"Medicine","cited_by":24,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Université de Montréal; Hôpital Notre-Dame","funders":"","keywords":"Gene duplication; Multiplex ligation-dependent probe amplification; Point mutation; Biology; Human genetics; Genetics; Gene; Germline mutation; Headaches; Germline; Mutation; Pathology; Medicine; Surgery; Exon","authors":[{"name":"Ute Felbor","is_ca":false},{"name":"Sabine Gaetzner","is_ca":false},{"name":"D. J. Verlaan","is_ca":true},{"name":"Raymon Vijzelaar","is_ca":false},{"name":"Guy A. Rouleau","is_ca":true},{"name":"Adrian M. Siegel","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.007678687074149387,"gpt":0.2477650922094466,"spread":0.2400864051352972,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001961479,0.0006357163,0.0004593433,0.001908532,0.0008423983,0.0004613419,0.0006148044,0.0008285989,0.004080263],"category_scores_gemma":[0.002723067,0.0002923604,0.0002620349,0.0009695062,0.0007401814,0.0003146089,0.0004310505,0.0004156786,0.0002954784],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004415519,"about_ca_system_score_gemma":0.0005044251,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00270071,"about_ca_topic_score_gemma":0.003026077,"domain_scores_codex":[0.9996069,0.00004412463,0.00004225426,0.0001128186,0.00009133764,0.0001025473],"domain_scores_gemma":[0.9989733,0.0005110678,0.0002043465,0.00004950003,0.00006726196,0.0001945156],"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":[0.00129129,0.0001972424,0.4571518,0.00006722478,0.0001214992,0.4842811,0.001430617,0.0007437243,0.0350516,0.0005585403,0.0007479443,0.01835742],"study_design_scores_gemma":[0.00009369773,0.000364969,0.3345623,0.00001780946,0.0001301948,0.6566402,0.0006527537,0.0008073414,0.005429639,0.0004291139,0.0008319883,0.00003996878],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9986689,0.000126868,0.0001153304,0.00005240063,0.000005868135,0.000007007283,0.00009561917,0.00001104985,0.0009170414],"genre_scores_gemma":[0.9995869,0.00004603155,0.0001179019,0.00002026927,0.00001453799,0.000003756092,0.00005735607,0.000005333694,0.0001478567],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004080263,"threshold_uncertainty_score":0.01364982,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2287508900","doi":"10.1007/s10048-016-0476-2","title":"Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia","year":2016,"lang":"en","type":"article","venue":"Neurogenetics","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":23,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"McGill University and Génome Québec Innovation Centre; University of Ottawa; Montreal Neurological Institute and Hospital; Children's Hospital of Eastern Ontario; McGill University","funders":"Fondation Groupe Monaco; Canadian Institutes of Health Research","keywords":"Krabbe disease; Leukodystrophy; Ataxia; Cerebellar ataxia; Exome sequencing; Hereditary spastic paraplegia; Spasticity; Age of onset; Compound heterozygosity; Medicine; Disease; Spastic; Pathology; Pediatrics; Mutation; Phenotype; Biology; Genetics; Physical medicine and rehabilitation; Cerebral palsy; Psychiatry; Gene","authors":[{"name":"Yi-Hong Shao","is_ca":true},{"name":"Karine Choquet","is_ca":true},{"name":"Roberta La Piana","is_ca":true},{"name":"Martine Tétreault","is_ca":true},{"name":"Marie‐Josée Dicaire","is_ca":true},{"name":"Kym M. Boycott","is_ca":true},{"name":"Jacek Majewski","is_ca":true},{"name":"Bernard Brais","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.009724379932276372,"gpt":0.236932487806259,"spread":0.2272081078739826,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002009584,0.001384892,0.0004180526,0.001293109,0.0004122765,0.0004939483,0.0004197982,0.001884197,0.001205859],"category_scores_gemma":[0.0007645415,0.000282337,0.0003324141,0.0005946559,0.001132872,0.0002495947,0.000552966,0.0007181516,0.0006428071],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006336823,"about_ca_system_score_gemma":0.00033573,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001623582,"about_ca_topic_score_gemma":0.003010112,"domain_scores_codex":[0.9998018,0.0000302421,0.00002177071,0.00004355132,0.00006479672,0.00003782274],"domain_scores_gemma":[0.999193,0.0002204715,0.0002362653,0.00004414272,0.00005420718,0.0002518771],"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":[0.001385323,0.0002751697,0.04124472,0.0001791163,0.0002029394,0.1510142,0.0005533663,0.001464417,0.7861139,0.001743837,0.00136332,0.01445958],"study_design_scores_gemma":[0.0005578881,0.001046858,0.374347,0.0001370205,0.0005099038,0.3511639,0.0009021219,0.01013914,0.2448884,0.004373355,0.01169233,0.0002420856],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9946902,0.0007096056,0.002311975,0.0002488909,0.00006307885,0.00002001082,0.0002694555,0.0001413489,0.001545488],"genre_scores_gemma":[0.9983894,0.0001037857,0.0007605053,0.00006476846,0.00001700961,0.000004628129,0.0001106643,0.00003030078,0.0005189026],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001884197,"threshold_uncertainty_score":0.004597723,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2071326500","doi":"10.1007/s10048-007-0084-2","title":"Confirmation of region-specific patterns of gene expression in the human brain","year":2007,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Gene expression and cancer classification","field":"Biochemistry, Genetics and Molecular Biology","cited_by":23,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"University of Toronto; Douglas College; Douglas Mental Health University Institute; McGill University","funders":"","keywords":"Human genetics; Biology; Human brain; Gene; Molecular genetics; Genetics; Computational biology; Neuroscience","authors":[{"name":"Carl Ernst","is_ca":true},{"name":"Adolfo Sequeira","is_ca":true},{"name":"Tim Klempan","is_ca":true},{"name":"Neil Ernst","is_ca":true},{"name":"Jarlath M.H. ffrench‐Mullen","is_ca":false},{"name":"Gustavo Turecki","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.0294909654876208,"gpt":0.2839600860663217,"spread":0.2544691205787009,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000217738,0.0001298435,0.000228707,0.0008892293,0.0002892033,0.0003420713,0.0001860534,0.0001965903,0.001652501],"category_scores_gemma":[0.0004194795,0.0001352334,0.0002473859,0.0004261516,0.0003900282,0.0001310473,0.0002043116,0.000283856,0.0005272276],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001490569,"about_ca_system_score_gemma":0.0002796167,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002496423,"about_ca_topic_score_gemma":0.002474347,"domain_scores_codex":[0.9998868,0.00001940373,0.000007982765,0.0000337829,0.00001990021,0.00003221349],"domain_scores_gemma":[0.999685,0.000123006,0.00004358529,0.00004304728,0.00006965693,0.00003557443],"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":[0.000618795,0.00002072847,0.01103075,0.00006697418,0.00003347516,0.000383525,0.0001721625,0.00007962868,0.9812494,0.0002834688,0.00009366441,0.00596744],"study_design_scores_gemma":[0.00004625263,0.0005426199,0.5200621,0.00002413099,0.0001502074,0.007344011,0.000499386,0.0007788959,0.4645321,0.0005335431,0.005466096,0.00002071615],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9933559,0.001477436,0.002252302,0.0000707097,0.000009792715,0.00001172615,0.0004971842,0.00003541253,0.002289452],"genre_scores_gemma":[0.9955772,0.0006686146,0.001488349,0.00002959266,0.00001042535,0.00001791804,0.0006586195,0.00001600914,0.001533232],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002496423,"threshold_uncertainty_score":0.005528212,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2441162696","doi":"10.1007/s10048-016-0487-z","title":"A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay","year":2016,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":22,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"","funders":"National Institute of General Medical Sciences; Canadian Institutes of Health Research; National Institutes of Health","keywords":"Biology; MFN2; Mitochondrion; mitochondrial fusion; Genetics; Mutation; Ataxia; Mitochondrial DNA; Nonsense mutation; Missense mutation; Cell biology; Molecular biology; Gene; Neuroscience","authors":[{"name":"Simon Edvardson","is_ca":false},{"name":"Yael Elbaz‐Alon","is_ca":false},{"name":"Chaim Jalas","is_ca":false},{"name":"Ashanti O. Matlock","is_ca":false},{"name":"Krishna Patel","is_ca":false},{"name":"Katherine Labbè","is_ca":false},{"name":"Avraham Shaag","is_ca":false},{"name":"Jane E. Jackman","is_ca":false},{"name":"Orly Elpeleg","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01177206328986981,"gpt":0.2153420430418537,"spread":0.2035699797519838,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003838688,0.002728491,0.0008517741,0.002517429,0.002297472,0.000689109,0.001360017,0.003584178,0.003107488],"category_scores_gemma":[0.00226571,0.0006577427,0.0008688569,0.001448474,0.002070398,0.0006583391,0.0009236016,0.00129749,0.0006288541],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001299081,"about_ca_system_score_gemma":0.001035284,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006541818,"about_ca_topic_score_gemma":0.003991556,"domain_scores_codex":[0.9995673,0.0000518903,0.00005403956,0.0001694745,0.00007791499,0.00007931697],"domain_scores_gemma":[0.9985148,0.0006608838,0.0002043003,0.00005746277,0.00009229433,0.0004702616],"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":[0.0002005892,0.00007926804,0.007363471,0.00003505696,0.00002490357,0.9763741,0.0004667175,0.0002239345,0.01266378,0.0003421004,0.0003151792,0.001910975],"study_design_scores_gemma":[0.000111987,0.0003497223,0.01999509,0.00003489096,0.000151092,0.9675636,0.0003346149,0.001343776,0.008344267,0.000468036,0.001245687,0.00005725957],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9932601,0.0005810588,0.001706602,0.001365119,0.0001578725,0.00005459645,0.000291321,0.0001125974,0.002470693],"genre_scores_gemma":[0.9974814,0.0001339233,0.000758116,0.0001637185,0.0001212977,0.00001498121,0.0000600989,0.00002375574,0.001242715],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006541818,"threshold_uncertainty_score":0.01300746,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2128711089","doi":"10.1007/s10048-014-0426-9","title":"The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases","year":2014,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":22,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"Trent University","funders":"Natural Sciences and Engineering Research Council of Canada","keywords":"Sequence (biology); Gene duplication; Biology; Genetics; Gene; Disease; Biomarker; Human genetics; Age of onset; Medicine; Pathology","authors":[{"name":"Elena Sinkiewicz‐Darol","is_ca":false},{"name":"Andressa Ferreira Lacerda","is_ca":true},{"name":"Anna Kostera‐Pruszczyk","is_ca":false},{"name":"Anna Potulska‐Chromik","is_ca":false},{"name":"Beata Sokołowska","is_ca":false},{"name":"Dagmara Kabzińska","is_ca":false},{"name":"Craig R. Brunetti","is_ca":true},{"name":"I Hausmanowa-Pétrusewicz","is_ca":false},{"name":"Andrzej Kochański","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.05493407858142874,"gpt":0.2951875233823061,"spread":0.2402534448008773,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001008019,0.0005958762,0.0003591045,0.0006306656,0.0002760897,0.0002934808,0.0002148689,0.0005784806,0.004753185],"category_scores_gemma":[0.0005110952,0.0001496161,0.0003201838,0.0003771015,0.0002447872,0.0001563242,0.000273983,0.0004142231,0.0007199445],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001414639,"about_ca_system_score_gemma":0.00009636284,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001115035,"about_ca_topic_score_gemma":0.0006319381,"domain_scores_codex":[0.9998428,0.00002469526,0.00002259647,0.00006404713,0.00002481004,0.00002100003],"domain_scores_gemma":[0.9997042,0.00005773347,0.000122279,0.00002012002,0.00002150324,0.00007422455],"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":[0.004647903,0.0005310347,0.2106656,0.0001368284,0.0002910379,0.03277832,0.0005483029,0.0005560527,0.7301899,0.0006661985,0.0008969535,0.01809181],"study_design_scores_gemma":[0.0001167911,0.001974085,0.8277435,0.00006840475,0.0002380635,0.1129535,0.000438294,0.001504143,0.05057035,0.0005438202,0.003774648,0.00007441336],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984409,0.0001955732,0.0003581113,0.00003781826,0.00001534228,0.000007373862,0.0002926174,0.00001803719,0.0006342835],"genre_scores_gemma":[0.9985248,0.00009585096,0.0003017602,0.00004414919,0.00001412829,0.000007038223,0.0002825538,0.00001629159,0.0007133909],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004753185,"threshold_uncertainty_score":0.01590097,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2072456123","doi":"10.1007/s10048-014-0432-y","title":"Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities","year":2014,"lang":"en","type":"article","venue":"Neurogenetics","topic":"RNA and protein synthesis mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":20,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"Child and Family Research Institute; University of British Columbia; BC Children's Hospital; B.C. Women's Hospital & Health Centre","funders":"Canadian Institutes of Health Research; Genome British Columbia; Michael Smith Health Research BC; Children's Hospital Foundation; Genome Canada","keywords":"Microcephaly; Phenotype; Compound heterozygosity; Biology; Genetics; Mutation; Cerebral atrophy; Atrophy; Cerebellum; Neuroscience; Gene","authors":[{"name":"Ramona Salvarinova","is_ca":true},{"name":"Cynthia X. Ye","is_ca":true},{"name":"Andrea Rossi","is_ca":false},{"name":"Roberta Biancheri","is_ca":false},{"name":"Elke H. Roland","is_ca":true},{"name":"Paul Pavlidis","is_ca":true},{"name":"Colin J.D. Ross","is_ca":true},{"name":"Maja Tarailo‐Graovac","is_ca":true},{"name":"Wyeth W. Wasserman","is_ca":true},{"name":"Clara van Karnebeek","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.009052858351042347,"gpt":0.2101904552918417,"spread":0.2011375969407994,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001992831,0.002297716,0.0006731469,0.00210774,0.0008397519,0.0005052076,0.0008744994,0.001216665,0.00412624],"category_scores_gemma":[0.001319331,0.0004406518,0.0007015992,0.000682809,0.001505229,0.0004353344,0.0007571623,0.0008621197,0.0006834571],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003793202,"about_ca_system_score_gemma":0.00054132,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001952952,"about_ca_topic_score_gemma":0.001529788,"domain_scores_codex":[0.9997056,0.000031572,0.00003484106,0.0001083399,0.00006331274,0.00005637653],"domain_scores_gemma":[0.9992718,0.0002565071,0.0001365876,0.00006385976,0.00007724262,0.0001939795],"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":[0.00009873111,0.00005318348,0.01318412,0.00004856563,0.00003870963,0.9520032,0.0005097015,0.0002958167,0.02831726,0.0005529904,0.0004365891,0.004461102],"study_design_scores_gemma":[0.00001615969,0.0001286584,0.02674125,0.00001851045,0.00007633607,0.9620024,0.0001874799,0.0005754469,0.008671816,0.0004136476,0.001135688,0.00003263547],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9906833,0.0004796219,0.002703518,0.0005471421,0.00007701994,0.00005017445,0.0004074242,0.0002095139,0.004842238],"genre_scores_gemma":[0.9967153,0.0002597983,0.001357895,0.00009256808,0.0001075065,0.00001764645,0.0001327838,0.00003402101,0.001282531],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00412624,"threshold_uncertainty_score":0.01380366,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2774293182","doi":"10.1007/s10048-017-0534-4","title":"A novel mutation in LAMC3 associated with generalized polymicrogyria of the cortex and epilepsy","year":2017,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":19,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"University of Calgary; Alberta Children's Hospital; University of Ottawa; Children's Hospital of Eastern Ontario","funders":"Ontario Genomics Institute","keywords":"Polymicrogyria; Nonsense mutation; Pachygyria; Epilepsy; Mutation; Neuroscience; Megalencephaly; Occipital lobe; Phenotype; Biology; Lissencephaly; Cortex (anatomy); Exome sequencing; Neurodevelopmental disorder; Hemimegalencephaly; Cortical dysplasia; Medicine; Genetics; Missense mutation; Gene","authors":[{"name":"Jessica L. Zambonin","is_ca":true},{"name":"David A. Dyment","is_ca":true},{"name":"Y. Xi","is_ca":true},{"name":"Ryan E. Lamont","is_ca":true},{"name":"Taila Hartley","is_ca":true},{"name":"Elka Miller","is_ca":true},{"name":"Matthew Kerr","is_ca":true},{"name":"Kym M. Boycott","is_ca":true},{"name":"Jillian S. Parboosingh","is_ca":true},{"name":"S Venkateswaran","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01603506935224749,"gpt":0.2754036189701111,"spread":0.2593685496178637,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002209415,0.00222809,0.0007055282,0.001408856,0.001242823,0.0005528611,0.000961992,0.003846958,0.002872394],"category_scores_gemma":[0.001716225,0.0003741746,0.001100308,0.001075041,0.001477137,0.000373024,0.0009479134,0.001263339,0.0006145982],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009134049,"about_ca_system_score_gemma":0.0009211251,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005391168,"about_ca_topic_score_gemma":0.004587399,"domain_scores_codex":[0.9996827,0.00004358019,0.0000405096,0.00007919211,0.00006671538,0.00008735449],"domain_scores_gemma":[0.998753,0.0004912805,0.0002339997,0.00005849713,0.00009656842,0.0003667108],"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":[0.0004931138,0.00008637781,0.007591164,0.000066848,0.00008320549,0.9333963,0.0002512929,0.0002926271,0.05381215,0.0005547139,0.0007254299,0.002646643],"study_design_scores_gemma":[0.0002890954,0.000301714,0.04974532,0.00004623644,0.0001998833,0.918004,0.0002970857,0.002072688,0.02572311,0.001099705,0.002125346,0.0000958384],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9929974,0.0004478661,0.001901726,0.0009433383,0.0001737976,0.00006444706,0.0004748207,0.0001281245,0.002868401],"genre_scores_gemma":[0.9981315,0.00007468795,0.0006500687,0.0001981539,0.00007923612,0.00001663917,0.0001432316,0.00002765215,0.0006789594],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005391168,"threshold_uncertainty_score":0.0107196,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W3023950431","doi":"10.1007/s10048-020-00612-7","title":"Oligogenicity, C9orf72 expansion, and variant severity in ALS","year":2020,"lang":"de","type":"article","venue":"Neurogenetics","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":18,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"McGill University; Université Laval; Montreal Neurological Institute and Hospital","funders":"Canadian Institutes of Health Research; ALS Society of Canada","keywords":"C9orf72; Amyotrophic lateral sclerosis; Human genetics; Genetics; Biology; Pathogenesis; Gene; Disease; Trinucleotide repeat expansion; Medicine; Allele; Pathology; Immunology","authors":[{"name":"Jay P. Ross","is_ca":true},{"name":"Claire S. Leblond","is_ca":false},{"name":"Sandra B. Laurent","is_ca":true},{"name":"Dan Spiegelman","is_ca":true},{"name":"Alexandre Dionne‐Laporte","is_ca":true},{"name":"William Camu","is_ca":false},{"name":"Nicolas Dupré","is_ca":true},{"name":"Patrick A. Dion","is_ca":true},{"name":"Guy A. Rouleau","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.04807443479861528,"gpt":0.290757996990211,"spread":0.2426835621915958,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000630524,0.0005009106,0.0003886209,0.001666957,0.0006477177,0.0006968048,0.0004607264,0.0007654498,0.003550828],"category_scores_gemma":[0.002051046,0.0002137498,0.0003576265,0.001265112,0.000496057,0.0004702994,0.0006021702,0.0004778996,0.0004691493],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002296783,"about_ca_system_score_gemma":0.0002514278,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002269976,"about_ca_topic_score_gemma":0.002115475,"domain_scores_codex":[0.9995939,0.0001064565,0.00007383472,0.0001049545,0.00006858853,0.00005215915],"domain_scores_gemma":[0.99864,0.0002840763,0.0005375595,0.00008212127,0.0001114845,0.0003447609],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002171872,0.0001228824,0.9799574,0.00002652583,0.0001656651,0.002376847,0.0002414851,0.0002840623,0.009000169,0.0002905063,0.0002324746,0.005130106],"study_design_scores_gemma":[0.00001467119,0.0001738868,0.9962227,0.00001046537,0.00005937528,0.002095446,0.000163717,0.0003913383,0.0003018421,0.0003475819,0.0002064599,0.00001249514],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991688,0.000122705,0.00009134716,0.00003315934,0.000006590482,0.000002206575,0.0001298839,0.000004062455,0.0004414744],"genre_scores_gemma":[0.9992864,0.00005913341,0.0000964608,0.00001548518,0.00001518615,0.000002546056,0.0001621711,0.000004611509,0.0003582054],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003550828,"threshold_uncertainty_score":0.01187873,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2928078971","doi":"10.1007/s10048-019-00572-7","title":"Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia","year":2019,"lang":"en","type":"article","venue":"Neurogenetics","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":18,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Montreal Children's Hospital; Montreal Neurological Institute and Hospital; McGill University Health Centre; McGill University","funders":"","keywords":"Genetics; Frameshift mutation; Biology; Gene; Phenotype; Transfer RNA; Aminoacyl tRNA synthetase; RNA","authors":[{"name":"Andrea Accogli","is_ca":true},{"name":"Laura Russell","is_ca":true},{"name":"Guillaume Sébire","is_ca":true},{"name":"Jean‐Baptiste Rivière","is_ca":true},{"name":"Judith St‐Onge","is_ca":true},{"name":"Nassima Addour-Boudrahem","is_ca":true},{"name":"Alexandre D. Laporte","is_ca":true},{"name":"Guy A. Rouleau","is_ca":true},{"name":"Christine Saint‐Martin","is_ca":true},{"name":"Myriam Srour","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.008626291763633664,"gpt":0.2318212388843028,"spread":0.2231949471206691,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002322351,0.001998354,0.0005874542,0.001410742,0.0007491609,0.0005941746,0.0009916221,0.002534657,0.005104577],"category_scores_gemma":[0.001067025,0.0004149153,0.0005231503,0.0008619262,0.001072312,0.0003286303,0.0008931554,0.001162314,0.0008830585],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004751968,"about_ca_system_score_gemma":0.0003461196,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00122755,"about_ca_topic_score_gemma":0.001657524,"domain_scores_codex":[0.9996123,0.00003800948,0.00003580836,0.0001222067,0.0001441085,0.00004771637],"domain_scores_gemma":[0.999343,0.0001934675,0.0002670758,0.00004649578,0.00003913564,0.0001107864],"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":[0.001117367,0.0001426926,0.03214865,0.0004016546,0.0004194983,0.2509353,0.00077941,0.001245444,0.6857224,0.004075271,0.002499297,0.02051311],"study_design_scores_gemma":[0.0002409088,0.0004133948,0.2585787,0.0002653317,0.0008070092,0.4625168,0.0006425607,0.003409866,0.2401685,0.006022244,0.0267932,0.0001417193],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9792421,0.002059189,0.00760362,0.0009488147,0.0003170853,0.00006363474,0.001393976,0.0004603781,0.007911183],"genre_scores_gemma":[0.9946141,0.0003727215,0.002613573,0.0001385499,0.00009064608,0.00002294737,0.0003232004,0.000101008,0.001723176],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005104577,"threshold_uncertainty_score":0.01707649,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W3190477891","doi":"10.1007/s10048-021-00658-1","title":"A founder mutation in the GMPPB gene [c.1000G &gt; A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients","year":2021,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Myasthenia Gravis and Thymoma","field":"Medicine","cited_by":16,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"University of Ottawa; Ottawa Hospital; Children's Hospital of Eastern Ontario","funders":"Medical Research Council; Canadian Institutes of Health Research; Council of Scientific and Industrial Research, India; Ataxia UK; Wellcome Trust","keywords":"Limb-girdle muscular dystrophy; Muscular dystrophy; Congenital myasthenic syndrome; Medicine; Proximal muscle weakness; Hypoplasia; Compound heterozygosity; Repetitive nerve stimulation; Muscle biopsy; Anatomy; Internal medicine; Mutation; Genetics; Biology; Biopsy; Myasthenia gravis","authors":[{"name":"Kiran Polavarapu","is_ca":true},{"name":"Aradhana Mathur","is_ca":false},{"name":"Aditi Joshi","is_ca":false},{"name":"Saraswati Nashi","is_ca":false},{"name":"Veeramani Preethish‐Kumar","is_ca":false},{"name":"Mainak Bardhan","is_ca":false},{"name":"Pooja Sharma","is_ca":false},{"name":"Shaista Parveen","is_ca":false},{"name":"Malika Seth","is_ca":false},{"name":"Seena Vengalil","is_ca":false},{"name":"Tanushree Chawla","is_ca":false},{"name":"Leena Shingavi","is_ca":false},{"name":"Uzma Shamim","is_ca":false},{"name":"Sushmita Nayak","is_ca":false},{"name":"A Vivekanand","is_ca":false},{"name":"Ana Töpf","is_ca":false},{"name":"Andreas Roos","is_ca":false},{"name":"Rita Horváth","is_ca":false},{"name":"Hanns Lochmüller","is_ca":true},{"name":"Bevinahalli N. Nandeesh","is_ca":false},{"name":"Gautham Arunachal","is_ca":false},{"name":"Atchayaram Nalini","is_ca":false},{"name":"Mohammed Faruq","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.0149741005772809,"gpt":0.2339776625087642,"spread":0.2190035619314833,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009904094,0.001037809,0.0002452135,0.0007143102,0.001021601,0.0003608638,0.0004397978,0.0006862424,0.002353293],"category_scores_gemma":[0.000632635,0.0002549376,0.0003491429,0.0006509576,0.0008396407,0.0001704248,0.0004147419,0.0005461192,0.0003668999],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003028925,"about_ca_system_score_gemma":0.0004548359,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007903825,"about_ca_topic_score_gemma":0.00776231,"domain_scores_codex":[0.999833,0.0000212776,0.00002224856,0.00005166463,0.00003347897,0.00003830849],"domain_scores_gemma":[0.9997773,0.00004966078,0.00004554596,0.00001263637,0.00001406285,0.000100888],"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":[0.0007315302,0.0002494924,0.2762358,0.0001631777,0.0001038922,0.5965559,0.003067238,0.000600612,0.1052366,0.0009434574,0.001805744,0.01430653],"study_design_scores_gemma":[0.0001100239,0.0004270554,0.5174036,0.00006030685,0.0001693263,0.4714949,0.001326838,0.0005754608,0.005065625,0.0005849231,0.002714845,0.00006703097],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9971201,0.0001260088,0.0002021431,0.0001781628,0.00002298041,0.0000294024,0.0001909617,0.00003437571,0.002095893],"genre_scores_gemma":[0.9991338,0.00008444449,0.0002039603,0.00007139478,0.0000221683,0.000007914187,0.00007592154,0.000005948302,0.0003944235],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007903825,"threshold_uncertainty_score":0.0157156,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2336300796","doi":"10.1007/s10048-016-0481-5","title":"Genetic fitness and selection intensity in a population affected with high-incidence spinocerebellar ataxia type 1","year":2016,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":16,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Queen's University","funders":"National Institute of Neurological Disorders and Stroke; National Institutes of Health; Ministry of Education and Science of the Russian Federation","keywords":"Spinocerebellar ataxia; Biology; Genetics; Demography; Population; Microevolution; Fertility; Cohort; Gene; Internal medicine; Medicine","authors":[{"name":"Федор Алексеевич Платонов","is_ca":false},{"name":"Kathrin Tyryshkin","is_ca":true},{"name":"Дмитрий Тихонов","is_ca":false},{"name":"Tatyana S. Neustroyeva","is_ca":false},{"name":"Tatyana M. Sivtseva","is_ca":false},{"name":"N.V. Yakovleva","is_ca":false},{"name":"Valerian Parfen'evich Nikolaev","is_ca":false},{"name":"Oksana G. Sidorova","is_ca":false},{"name":"С.К. Кононова","is_ca":false},{"name":"Lev G. Goldfarb","is_ca":false},{"name":"Neil Renwick","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01718768550940319,"gpt":0.2386437156435661,"spread":0.2214560301341629,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000600967,0.0005124313,0.0004910771,0.001207199,0.001653201,0.0008819847,0.0006413861,0.000665258,0.001888962],"category_scores_gemma":[0.001454661,0.0002398249,0.0003363717,0.0006737361,0.001163127,0.0002969582,0.0007813728,0.000826909,0.0001932382],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000553926,"about_ca_system_score_gemma":0.0004241898,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006041263,"about_ca_topic_score_gemma":0.007841375,"domain_scores_codex":[0.9995607,0.0001651959,0.00002498575,0.0001265682,0.00004389403,0.00007867083],"domain_scores_gemma":[0.9990968,0.0002996653,0.0001424215,0.00006974113,0.0001019016,0.0002894792],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004199489,0.00231799,0.8177151,0.0000347798,0.0008156211,0.004863626,0.004091163,0.00209422,0.1523436,0.0008688602,0.0003051403,0.01035032],"study_design_scores_gemma":[0.00008463288,0.001584931,0.9856521,0.000009144989,0.0002719249,0.002459531,0.002705338,0.004957777,0.001492968,0.0004543636,0.0002527785,0.00007453855],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.999835,0.000009151017,0.0000444105,0.000008981734,0.000001198591,0.000001492974,0.00001327123,0.000001201282,0.00008521169],"genre_scores_gemma":[0.9996421,0.00001259543,0.00006746663,0.00001188506,0.000003049473,0.000003681904,0.00003475091,0.000003362735,0.0002209451],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006041263,"threshold_uncertainty_score":0.01201218,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W1997941941","doi":"10.1007/s10048-014-0412-2","title":"A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy","year":2014,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Montreal Neurological Institute and Hospital; Centre Hospitalier Universitaire Sainte-Justine; Université de Montréal; McGill University Health Centre; McGill University; Montreal Children's Hospital","funders":"","keywords":"Leukoencephalopathy; Corpus callosum; Medicine; Magnetic resonance imaging; Human genetics; Pediatrics; Pathology; Natural history; Internal medicine; Radiology; Biology; Genetics; Gene","authors":[{"name":"Alireza Kashani","is_ca":true},{"name":"Isabelle Thiffault","is_ca":true},{"name":"Marie-Emmanuelle Dilenge","is_ca":true},{"name":"Christine Saint‐Martin","is_ca":true},{"name":"Kether Guerrero","is_ca":true},{"name":"Luan T. Tran","is_ca":true},{"name":"Eric A. Shoubridge","is_ca":true},{"name":"Marjo S. van der Knaap","is_ca":false},{"name":"Nancy Braverman","is_ca":true},{"name":"Geneviève Bernard","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01256575997775639,"gpt":0.2384561392754862,"spread":0.2258903792977298,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001999084,0.0018879,0.0009844534,0.001703964,0.00104997,0.0005178479,0.0006906472,0.002180527,0.002649665],"category_scores_gemma":[0.001751916,0.0003802583,0.000518514,0.001089345,0.001025109,0.000653838,0.0006757521,0.0008321425,0.0008814705],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005168486,"about_ca_system_score_gemma":0.0003294318,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009946915,"about_ca_topic_score_gemma":0.0008323142,"domain_scores_codex":[0.9997799,0.00002149703,0.00002275468,0.00006000586,0.00005657149,0.00005920697],"domain_scores_gemma":[0.9993401,0.0002351081,0.0001325248,0.00004404929,0.00004945742,0.000198845],"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":[0.0001766918,0.00005513478,0.01276709,0.0000487448,0.00003219632,0.9638522,0.0001524275,0.0001223271,0.01862681,0.0003382477,0.0005875214,0.003240498],"study_design_scores_gemma":[0.00002021326,0.0001777498,0.02140549,0.00001014829,0.00004633043,0.9717248,0.00008860869,0.0004279541,0.004730249,0.0004922977,0.0008469381,0.0000292424],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9888227,0.0008375026,0.002071694,0.00140238,0.0001097334,0.00006127093,0.0003699535,0.0002896836,0.006035079],"genre_scores_gemma":[0.9981042,0.0002169468,0.0005692981,0.0001045635,0.000112796,0.000007553051,0.0001110009,0.00002604653,0.0007475094],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002649665,"threshold_uncertainty_score":0.008863986,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2568135830","doi":"10.1007/s10048-016-0506-0","title":"Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype","year":2017,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":14,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; Université de Montréal; McGill Genome Centre; Montreal Neurological Institute and Hospital; University of Calgary; McGill University","funders":"Canadian Institutes of Health Research","keywords":"Phenotype; Biology; Microcephaly; Ataxia; Leukoencephalopathy; Genetics; Mutation; Compound heterozygosity; Mitochondrial disease; Mitochondrion; Frataxin; Mitochondrial DNA; Pathology; Gene; Medicine; Neuroscience; Disease","authors":[{"name":"Roberta La Piana","is_ca":true},{"name":"Woranontee Weraarpachai","is_ca":true},{"name":"Luis H. Ospina","is_ca":true},{"name":"Martine Tétreault","is_ca":true},{"name":"Jacek Majewski","is_ca":true},{"name":"G. Bruce Pike","is_ca":true},{"name":"Jean‐Claude Décarie","is_ca":true},{"name":"Donatella Tampieri","is_ca":true},{"name":"Bernard Brais","is_ca":true},{"name":"Eric A. Shoubridge","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.0202286375168077,"gpt":0.2501230437278263,"spread":0.2298944062110186,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001651171,0.0007029156,0.0004671722,0.001049498,0.0005094327,0.0003112835,0.0005396933,0.00133053,0.002274492],"category_scores_gemma":[0.0008164063,0.0001588974,0.0006652555,0.0003620614,0.0006980983,0.0001984081,0.0005168589,0.000503825,0.0004872286],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000286472,"about_ca_system_score_gemma":0.0003076052,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001399776,"about_ca_topic_score_gemma":0.001121113,"domain_scores_codex":[0.9998102,0.00001976659,0.00003487895,0.00005147111,0.00004739846,0.00003623483],"domain_scores_gemma":[0.9995197,0.000144463,0.0001320701,0.00002850119,0.00004135533,0.0001339839],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0004434997,0.0001823387,0.00641626,0.0000890088,0.00007809607,0.1176232,0.0002026562,0.0002834816,0.8689239,0.0007892074,0.0003023557,0.004665997],"study_design_scores_gemma":[0.0002030795,0.001329279,0.1341828,0.00007772641,0.0003856566,0.437855,0.0004230075,0.005298911,0.4098428,0.001590589,0.008672657,0.0001383574],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9946361,0.0002793969,0.00287523,0.0002402734,0.00008039933,0.0000515809,0.0006767737,0.00006889102,0.001091347],"genre_scores_gemma":[0.9972516,0.00009989152,0.001396104,0.00006902491,0.00002876299,0.0000175949,0.0003763616,0.0000241963,0.0007365782],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002274492,"threshold_uncertainty_score":0.007608891,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W3013715031","doi":"10.1007/s10048-020-00607-4","title":"Cognitive decline and depressive symptoms: early non-motor presentations of parkinsonism among Egyptian Gaucher patients","year":2020,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":14,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true},"ca_institutions":"","funders":"","keywords":"Parkinsonism; Internal medicine; Rating scale; Pediatrics; Depression (economics); Medicine; Cohort; Montreal Cognitive Assessment; Gastroenterology; Psychiatry; Physical therapy; Disease; Psychology; Dementia","authors":[{"name":"Azza Abdel Gawad Tantawy","is_ca":false},{"name":"Amira Adly","is_ca":false},{"name":"Mai SeifElDin Abdeen","is_ca":false},{"name":"Nouran Yousef Salah","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.02104129780108527,"gpt":0.293930865967482,"spread":0.2728895681663968,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001423526,0.0002764079,0.0002813594,0.0007673125,0.0005773239,0.0006431984,0.0002347069,0.0004792475,0.001275515],"category_scores_gemma":[0.0008370246,0.0002189699,0.0002744759,0.0005629464,0.0002328175,0.0004687361,0.0003256534,0.0004457123,0.0001518438],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005170312,"about_ca_system_score_gemma":0.000356973,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01406586,"about_ca_topic_score_gemma":0.01718677,"domain_scores_codex":[0.9998745,0.00001624832,0.000020644,0.00002222446,0.00002171061,0.00004477066],"domain_scores_gemma":[0.9997364,0.00003785,0.0001073974,0.000007905197,0.00003567669,0.00007486922],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001578709,0.00008130002,0.9948832,0.00001144879,0.00001884462,0.002451671,0.0003082793,0.00002295715,0.0003875024,0.00002136367,0.00007678386,0.001578939],"study_design_scores_gemma":[0.000005761473,0.00007787498,0.9957486,0.000007407692,0.00001694275,0.003103436,0.0008223092,0.00005651209,0.00004130946,0.00002647997,0.00008893729,0.000004544255],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9993767,0.0001185963,0.000008924342,0.00004698421,0.000002036608,0.000003654696,0.00004472272,9.277011e-7,0.0003976068],"genre_scores_gemma":[0.999702,0.00006650927,0.00001320666,0.00002607117,0.000005578112,0.000001528706,0.0000524786,3.746727e-7,0.0001321217],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01406586,"threshold_uncertainty_score":0.02796799,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2149198116","doi":"10.1007/s10048-015-0461-1","title":"Transgenic rescue of phenotypic deficits in a mouse model of alternating hemiplegia of childhood","year":2015,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Ion Transport and Channel Regulation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"Lunenfeld-Tanenbaum Research Institute; University of Toronto; Mount Sinai Hospital","funders":"Medical Research Council; Canadian Institutes of Health Research; University of Leeds; Wellcome Trust","keywords":"Human genetics; Genetically modified mouse; Phenotype; Transgene; Biology; Medicine; Genetics; Neuroscience; Gene","authors":[{"name":"Greer S. Kirshenbaum","is_ca":true},{"name":"James Dachtler","is_ca":false},{"name":"John Roder","is_ca":true},{"name":"Steven J. Clapcote","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.02402915115121881,"gpt":0.2367035483298287,"spread":0.2126743971786099,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002233906,0.0007380275,0.0004481293,0.0007307474,0.0002914417,0.0003103988,0.0004732019,0.0006713815,0.002325153],"category_scores_gemma":[0.0001571356,0.0002622081,0.0003703636,0.0002840268,0.0005112689,0.0003047248,0.00033474,0.0009114176,0.0006437408],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002944494,"about_ca_system_score_gemma":0.0004458484,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009439664,"about_ca_topic_score_gemma":0.001849759,"domain_scores_codex":[0.9997858,0.00002343414,0.00003334343,0.00004998087,0.0000618155,0.00004555395],"domain_scores_gemma":[0.9996487,0.00003570501,0.0001280985,0.00003127407,0.00002813487,0.0001280423],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0002811775,0.00008679476,0.0001797311,0.00004592969,0.00001483994,0.0004769717,0.00003639007,0.0001207338,0.9966533,0.0003046142,0.0001236411,0.001675809],"study_design_scores_gemma":[0.0002475606,0.002043387,0.01346925,0.00006910056,0.0001136456,0.004227428,0.0001964508,0.001885572,0.9699479,0.0004003319,0.007364842,0.00003453926],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9924186,0.0007828049,0.002935579,0.0002206613,0.00008693918,0.00005871597,0.001580459,0.0003161464,0.001599911],"genre_scores_gemma":[0.981248,0.001805779,0.005741659,0.0001203124,0.00002863961,0.0001492206,0.00194723,0.0001539377,0.008805048],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002325153,"threshold_uncertainty_score":0.007778406,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4210491117","doi":"10.1007/s10048-022-00683-8","title":"Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration","year":2022,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Neuroinflammation and Neurodegeneration Mechanisms","field":"Neuroscience","cited_by":12,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"McGill Genome Centre; Montreal Children's Hospital; McGill University; McGill University Health Centre","funders":"National Institute of Neurological Disorders and Stroke; Canadian Institutes of Health Research","keywords":"Missense mutation; Biology; Pathology; Exome sequencing; Neurodegeneration; Grey matter; Microglia; White matter; Phenotype; Genetics; Inflammation; Medicine; Gene; Disease; Immunology; Magnetic resonance imaging","authors":[{"name":"Julia Macintosh","is_ca":true},{"name":"Alexa Derksen","is_ca":true},{"name":"Chantal Poulin","is_ca":true},{"name":"Nancy Braverman","is_ca":true},{"name":"Adeline Vanderver","is_ca":false},{"name":"Isabelle Thiffault","is_ca":false},{"name":"Steffen Albrecht","is_ca":true},{"name":"Geneviève Bernard","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.03802999335679252,"gpt":0.242546036818449,"spread":0.2045160434616565,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004343373,0.001857375,0.0005388272,0.001465957,0.0009339041,0.0006990203,0.0007461726,0.00192268,0.005136779],"category_scores_gemma":[0.001650296,0.0003722471,0.0007776068,0.0009756604,0.0008188737,0.0002861701,0.0006337056,0.0007862452,0.000668137],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000280031,"about_ca_system_score_gemma":0.0003272993,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00292532,"about_ca_topic_score_gemma":0.003038483,"domain_scores_codex":[0.9993494,0.0001070878,0.0001146544,0.0001846955,0.0001656019,0.0000785596],"domain_scores_gemma":[0.9987566,0.0002956839,0.0005009996,0.00008102234,0.0001154283,0.0002502487],"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":[0.006514533,0.0006116129,0.2274628,0.0002920046,0.001267296,0.4136678,0.002171946,0.00109483,0.3250375,0.00364551,0.002044781,0.01618925],"study_design_scores_gemma":[0.0004330653,0.0009351705,0.6082925,0.0002193896,0.00145088,0.3504424,0.001069313,0.003656741,0.02133987,0.004443398,0.00752064,0.0001966523],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.993297,0.000794506,0.002061214,0.0003944723,0.0001013566,0.00004751377,0.0006396315,0.00009717243,0.002567094],"genre_scores_gemma":[0.9971513,0.0001374324,0.001017679,0.0001166261,0.0001108322,0.00001102569,0.0002139781,0.00002945949,0.001211746],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005136779,"threshold_uncertainty_score":0.01718426,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2162809828","doi":"10.1007/s10048-013-0364-y","title":"Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington’s disease motor onset","year":2013,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":9,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"University of Alberta; University of British Columbia","funders":"National Institute of Neurological Disorders and Stroke; National Institutes of Health; McLean Hospital; Fundação para a Ciência e a Tecnologia; CHDI Foundation","keywords":"Dopaminergic; Glutamatergic; Genetics; Candidate gene; Biology; Huntington's disease; Dopamine; Dopamine transporter; Genetic association; Disease; Neuroscience; Genotype; Internal medicine; Single-nucleotide polymorphism; Medicine; Gene; Receptor; Glutamate receptor","authors":[{"name":"Eliana Marisa Ramos","is_ca":false},{"name":"Jeanne C. Latourelle","is_ca":false},{"name":"Tammy Gillis","is_ca":false},{"name":"Jayalakshmi Srinidhi Mysore","is_ca":false},{"name":"Ferdinando Squitieri","is_ca":false},{"name":"Alba Di Pardo","is_ca":false},{"name":"Stefano Di Donato","is_ca":false},{"name":"Cinzia Gellera","is_ca":false},{"name":"Michael R. Hayden","is_ca":true},{"name":"Patrick J. Morrison","is_ca":false},{"name":"Martha Nance","is_ca":false},{"name":"Christopher A. Ross","is_ca":false},{"name":"Russell L. Margolis","is_ca":false},{"name":"Estrella Gómez‐Tortosa","is_ca":false},{"name":"Carmen Ayuso","is_ca":false},{"name":"Oksana Suchowersky","is_ca":true},{"name":"Ronald J. Trent","is_ca":false},{"name":"Elizabeth McCusker","is_ca":false},{"name":"Andrea Novelletto","is_ca":false},{"name":"Marina Frontali","is_ca":false},{"name":"Randi Jones","is_ca":false},{"name":"Tetsuo Ashizawa","is_ca":false},{"name":"Samuel Frank","is_ca":false},{"name":"Marie Saint‐Hilaire","is_ca":false},{"name":"Steven M. Hersch","is_ca":false},{"name":"H. Diana Rosas","is_ca":false},{"name":"Diane Lucente","is_ca":false},{"name":"Madaline B. Harrison","is_ca":false},{"name":"Andrea Zanko","is_ca":false},{"name":"Ruth K. Abramson","is_ca":false},{"name":"Karen Marder","is_ca":false},{"name":"James F. Gusella","is_ca":false},{"name":"Jong‐Min Lee","is_ca":false},{"name":"Isabel Alonso","is_ca":false},{"name":"Jorge Sequeiros","is_ca":false},{"name":"Richard H. Myers","is_ca":false},{"name":"Marcy E. MacDonald","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.0130759521366742,"gpt":0.2270958968134319,"spread":0.2140199446767577,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009856799,0.0006762819,0.0006447721,0.0005810487,0.0004010444,0.0004725399,0.0005401451,0.000652444,0.00248205],"category_scores_gemma":[0.002739062,0.0002375204,0.0006199134,0.0005720535,0.0004827754,0.0002956757,0.0003674566,0.0003480022,0.0002944517],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00017051,"about_ca_system_score_gemma":0.0002617335,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001795086,"about_ca_topic_score_gemma":0.002802833,"domain_scores_codex":[0.998854,0.0004127456,0.0001227406,0.0003507783,0.0001708053,0.00008889397],"domain_scores_gemma":[0.9987599,0.0005873295,0.0002687429,0.0001168744,0.00007233628,0.0001948815],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003272015,0.0001963334,0.9584054,0.00005085262,0.001097052,0.003077977,0.0003915618,0.000303003,0.0271622,0.0002513821,0.0001701139,0.005622124],"study_design_scores_gemma":[0.00007581599,0.0006109234,0.9941981,0.00001368392,0.0004917475,0.002157773,0.0001060911,0.0006585802,0.001113136,0.0002104267,0.00035475,0.000009007422],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990715,0.0001491798,0.0002311918,0.0000257587,0.000006999599,0.000004864515,0.0001059099,0.000004454013,0.0004001189],"genre_scores_gemma":[0.9994903,0.00003507674,0.0001471999,0.0000205984,0.000004814942,0.000002867652,0.00008664273,0.000005276895,0.0002072013],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00248205,"threshold_uncertainty_score":0.008303285,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4313254790","doi":"10.1007/s10048-022-00707-3","title":"Genotype–phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India","year":2022,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":false,"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":"","keywords":"Natural history; Medicine; Cohort; Family history; Retrospective cohort study; Genotype; Pediatrics; Natural history study; Age of onset; Internal medicine; Population; Biology; Genetics; Disease","authors":[{"name":"‬Saraswati Nashi","is_ca":false},{"name":"Kiran Polavarapu","is_ca":true},{"name":"Mainak Bardhan","is_ca":false},{"name":"Ram Murthy Anjanappa","is_ca":false},{"name":"Veeramani Preethish‐Kumar","is_ca":false},{"name":"Seena Vengalil","is_ca":false},{"name":"Hansashree Padmanabha","is_ca":false},{"name":"Thenral S. Geetha","is_ca":false},{"name":"P. V. Prathyusha","is_ca":false},{"name":"Vedam L. Ramprasad","is_ca":false},{"name":"Aditi Joshi","is_ca":false},{"name":"Tanushree Chawla","is_ca":false},{"name":"Gopikirshnan Unnikrishnan","is_ca":false},{"name":"Pooja Sharma","is_ca":false},{"name":"Akshata Huddar","is_ca":false},{"name":"Bharathram Uppilli","is_ca":false},{"name":"Abel Thomas","is_ca":false},{"name":"Dipti Baskar","is_ca":false},{"name":"Susi Mathew","is_ca":false},{"name":"Deepak Menon","is_ca":false},{"name":"Gautham Arunachal","is_ca":false},{"name":"Mohammed Faruq","is_ca":false},{"name":"Kumarasamy Thangaraj","is_ca":false},{"name":"Atchayaram Nalini","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.0111380184863439,"gpt":0.2085982212747734,"spread":0.1974602027884295,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002394767,0.0004357545,0.00042112,0.0008310367,0.001508616,0.0006162945,0.0005693657,0.0004829835,0.001494832],"category_scores_gemma":[0.001053415,0.0003953465,0.0004389359,0.0009785062,0.0008392036,0.0003081799,0.0006624881,0.0005460349,0.0004384489],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000956993,"about_ca_system_score_gemma":0.0007871268,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.02123188,"about_ca_topic_score_gemma":0.01515139,"domain_scores_codex":[0.9995952,0.00008893127,0.0000387437,0.0001030982,0.00005807046,0.0001160324],"domain_scores_gemma":[0.9991448,0.0002006335,0.0001624566,0.00009169715,0.0001221344,0.00027826],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002736468,0.0003641483,0.9432213,0.00003438388,0.00004380357,0.03816062,0.008874543,0.0001762707,0.003437974,0.0001219802,0.0002486223,0.005042862],"study_design_scores_gemma":[0.00002487107,0.0009272475,0.9409658,0.00001726084,0.00005464505,0.04956823,0.006597489,0.0002342049,0.0007224304,0.00007337458,0.000766772,0.00004770783],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9993935,0.00005324595,0.00008418809,0.00003048326,0.000002258071,0.000008235203,0.00004370529,0.00000380135,0.000380695],"genre_scores_gemma":[0.9994906,0.00008999476,0.0000745656,0.00003240213,0.000005003828,0.000003987875,0.00005819499,0.000004964344,0.0002403266],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02123188,"threshold_uncertainty_score":0.0422166,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null}]}