{"meta":{"page":1,"per_page":50,"max_per_page":100,"total":214,"total_is_capped":false,"direct_labels_cover":0,"predictions_cover":214,"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":"e2524c6f29a4","filters":{"venue":"Journal of Inherited Metabolic Disease"}},"results":[{"id":"W2149704787","doi":"10.1007/s10545-011-9289-5","title":"Diagnosis and management of glutaric aciduria type I – revised recommendations","year":2011,"lang":"en","type":"review","venue":"Journal of Inherited Metabolic Disease","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":326,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"University of Manitoba; Children's Hospital of Winnipeg","funders":"Federalno Ministarstvo Obrazovanja i Nauke; Bundesministerium für Bildung und Forschung; European Commission","keywords":"Glutaric acid; Medicine; Newborn screening; Carnitine; Dystonia; Pediatrics; Reye Syndrome; Internal medicine; Biology; Biochemistry; Psychiatry","authors":[{"name":"Stefan Kölker","is_ca":false},{"name":"Ernst Christensen","is_ca":false},{"name":"James V. Leonard","is_ca":false},{"name":"Cheryl R. Greenberg","is_ca":true},{"name":"Avihu Boneh","is_ca":false},{"name":"Alberto Burlina","is_ca":false},{"name":"Alessandro P. Burlina","is_ca":false},{"name":"Marjorie Dixon","is_ca":false},{"name":"Marinus Durán","is_ca":false},{"name":"Àngels García Cazorla","is_ca":false},{"name":"Stephen I. Goodman","is_ca":false},{"name":"David M. Koeller","is_ca":false},{"name":"Mårten Kyllerman","is_ca":false},{"name":"Chris Mühlhausen","is_ca":false},{"name":"Edith Müller","is_ca":false},{"name":"Jürgen G. Okun","is_ca":false},{"name":"Bridget Wilcken","is_ca":false},{"name":"Georg F. Hoffmann","is_ca":false},{"name":"Peter Burgard","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.04898682727451304,"gpt":0.3328877228993798,"spread":0.2839008956248668,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001041858,0.001016352,0.000962931,0.001771304,0.0006578335,0.0008150013,0.00198525,0.002816356,0.006136501],"category_scores_gemma":[0.00453715,0.0002202558,0.001276433,0.0004904224,0.0004383512,0.001065185,0.001180916,0.00333234,0.003847481],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00115387,"about_ca_system_score_gemma":0.001639888,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004956724,"about_ca_topic_score_gemma":0.004013862,"domain_scores_codex":[0.9991079,0.0002487622,0.0002190563,0.0000905956,0.0002252151,0.000108416],"domain_scores_gemma":[0.998808,0.0001433668,0.0001370792,0.00004707553,0.0005887133,0.0002758002],"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":[0.0001960671,0.0003810784,0.008041531,0.002274329,0.0001227522,0.0118051,0.0002745692,0.001388156,0.00211495,0.004834988,0.4294558,0.5391107],"study_design_scores_gemma":[0.0002613626,0.0004593455,0.02354776,0.02192767,0.000284604,0.06515086,0.0008498764,0.001917689,0.002692262,0.01248269,0.8702651,0.0001608304],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.02773182,0.3476976,0.06945263,0.3224979,0.02299193,0.002725423,0.003835049,0.002358392,0.2007093],"genre_scores_gemma":[0.1747035,0.431404,0.1889885,0.09628599,0.02701676,0.003443351,0.01190939,0.0005494721,0.06569906],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.006136501,"threshold_uncertainty_score":0.02052867,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2557591007","doi":"10.1007/s10545-016-9991-4","title":"Guidelines for diagnosis and management of the cobalamin‐related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency","year":2016,"lang":"en","type":"review","venue":"Journal of Inherited Metabolic Disease","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":319,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"","funders":"Rare Disease Foundation; Univerzita Karlova v Praze","keywords":"Cobalamin; Methylenetetrahydrofolate reductase; Medicine; Human genetics; Genetics; Biology; Internal medicine; Vitamin B12; Allele; Gene","authors":[{"name":"Daria Diodato","is_ca":false},{"name":"Bernd Schwahn","is_ca":false},{"name":"Manuel Schiff","is_ca":false},{"name":"Anabela Bandeira","is_ca":false},{"name":"Jean‐François Benoist","is_ca":false},{"name":"Alberto Burlina","is_ca":false},{"name":"R. Cerone","is_ca":false},{"name":"María L. Couce","is_ca":false},{"name":"Ángeles García‐Cazorla","is_ca":false},{"name":"Giancarlo la Marca","is_ca":false},{"name":"Elisabetta Pasquini","is_ca":false},{"name":"Laura Vilarinho","is_ca":false},{"name":"James D. Weisfeld‐Adams","is_ca":false},{"name":"Viktor Kožich","is_ca":false},{"name":"Henk J. Blom","is_ca":false},{"name":"Matthias R. Baumgartner","is_ca":false},{"name":"Carlo Dionisi‐Vici","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.09496233079956377,"gpt":0.4138215656559049,"spread":0.3188592348563411,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.003161464,0.001662205,0.002815786,0.007640518,0.0006156605,0.001293601,0.003934482,0.003771859,0.01442302],"category_scores_gemma":[0.008797049,0.0006677493,0.003405463,0.005172165,0.0005828945,0.001900969,0.00114367,0.002373456,0.005909724],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002185687,"about_ca_system_score_gemma":0.007602728,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01054473,"about_ca_topic_score_gemma":0.0146313,"domain_scores_codex":[0.9966008,0.0009255652,0.001410843,0.0001530995,0.0007811103,0.0001286252],"domain_scores_gemma":[0.9946091,0.00193624,0.001254317,0.0001121054,0.001917621,0.0001706508],"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":[0.0001983059,0.0001352089,0.0004457902,0.1257989,0.0004566395,0.0005303202,0.0002970985,0.0004939546,0.000924778,0.004348544,0.2993145,0.5670561],"study_design_scores_gemma":[0.0001959166,0.00007457104,0.002115478,0.1593628,0.001076731,0.001706368,0.0001876036,0.0001648105,0.0003031584,0.003811938,0.8309528,0.00004783359],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0003625308,0.9715638,0.002180402,0.01079561,0.001641361,0.001111065,0.003352494,0.0001524553,0.008840368],"genre_scores_gemma":[0.002855971,0.9576213,0.02283179,0.005222813,0.0005071065,0.001682001,0.004207791,0.00003877276,0.005032398],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.01442302,"threshold_uncertainty_score":0.04824978,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2005022609","doi":"10.1007/s10545-014-9704-9","title":"Ketone body metabolism and its defects","year":2014,"lang":"en","type":"review","venue":"Journal of Inherited Metabolic Disease","topic":"Diet and metabolism studies","field":"Medicine","cited_by":229,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"","keywords":"Ketogenesis; Ketone bodies; Ketosis; Endocrinology; Internal medicine; Beta oxidation; Medicine; Ketogenic diet; Newborn screening; Hypoglycemia; Metabolism; Diabetes mellitus; Epilepsy; Pediatrics","authors":[{"name":"Toshiyuki Fukao","is_ca":false},{"name":"Grant A. Mitchell","is_ca":true},{"name":"Jörn Oliver Sass","is_ca":false},{"name":"Tomohiro Hori","is_ca":false},{"name":"Kenji E. Orii","is_ca":false},{"name":"Yuka Aoyama","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.03598573917968989,"gpt":0.3390156822274911,"spread":0.3030299430478012,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002049322,0.000839492,0.0006616735,0.001616712,0.0002306155,0.0008393356,0.0004660384,0.0005922145,0.004086589],"category_scores_gemma":[0.0007715877,0.0001584575,0.0005182958,0.001705327,0.0003203248,0.0005928396,0.0005157253,0.0006091049,0.001870759],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004039391,"about_ca_system_score_gemma":0.0003884083,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001167267,"about_ca_topic_score_gemma":0.0005997822,"domain_scores_codex":[0.9996827,0.00004395753,0.00008261034,0.00007028977,0.00007128448,0.00004920203],"domain_scores_gemma":[0.9996984,0.0000902923,0.00009100663,0.00001227799,0.00005590535,0.00005212249],"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":[0.000773024,0.0001426896,0.01869268,0.007559524,0.0002594548,0.05929653,0.0003274937,0.0005341312,0.009981888,0.005028929,0.0318343,0.8655694],"study_design_scores_gemma":[0.00006572758,0.0002967932,0.04402133,0.003949033,0.0003681676,0.5004075,0.0003912795,0.00033984,0.005930621,0.003643599,0.4405196,0.00006650971],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.02781027,0.9496223,0.002344512,0.001341613,0.0006031041,0.00004176965,0.0009594081,0.000152304,0.01712471],"genre_scores_gemma":[0.178756,0.7996844,0.002792028,0.001542296,0.001397768,0.0000769624,0.003324015,0.00009594618,0.0123306],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.004086589,"threshold_uncertainty_score":0.01367098,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2549943931","doi":"10.1007/s10545-016-9999-9","title":"Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision","year":2016,"lang":"en","type":"review","venue":"Journal of Inherited Metabolic Disease","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":229,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"University of Manitoba; Children's Hospital of Winnipeg; Children's Hospital Research Institute of Manitoba; Health Sciences Centre","funders":"","keywords":"Glutaric acid; Carnitine; Newborn screening; Medicine; Pediatrics; Internal medicine; Endocrinology; Biology; Biochemistry","authors":[{"name":"Nikolas Boy","is_ca":false},{"name":"Chris Mühlhausen","is_ca":false},{"name":"Esther M. Maier","is_ca":false},{"name":"Jana Herınger","is_ca":false},{"name":"Birgit Assmann","is_ca":false},{"name":"Peter Burgard","is_ca":false},{"name":"Marjorie Dixon","is_ca":false},{"name":"Sandra Fleissner","is_ca":false},{"name":"Cheryl R. Greenberg","is_ca":true},{"name":"Inga Harting","is_ca":false},{"name":"Georg F. Hoffmann","is_ca":false},{"name":"Daniela Karall","is_ca":false},{"name":"David M. Koeller","is_ca":false},{"name":"Michael Krawinkel","is_ca":false},{"name":"Jürgen G. Okun","is_ca":false},{"name":"Thomas Opladen","is_ca":false},{"name":"Roland Posset","is_ca":false},{"name":"Katja Sahm","is_ca":false},{"name":"Johannes Zschocke","is_ca":false},{"name":"Stefan Kölker","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.02570920632940035,"gpt":0.3245378217705229,"spread":0.2988286154411226,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.008204163,0.001345103,0.001840573,0.003596414,0.001346228,0.002511648,0.005002823,0.008562119,0.01093953],"category_scores_gemma":[0.04795721,0.0005586758,0.003253178,0.0014228,0.001517917,0.003298059,0.002233136,0.01016423,0.00969634],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002462839,"about_ca_system_score_gemma":0.008772626,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01016579,"about_ca_topic_score_gemma":0.01419156,"domain_scores_codex":[0.9920571,0.002790939,0.002258125,0.0004067534,0.001953653,0.0005334077],"domain_scores_gemma":[0.9469995,0.008921074,0.002472939,0.00161111,0.03684803,0.003147324],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001170829,0.000210164,0.002931859,0.001744194,0.00006385522,0.001084718,0.000341499,0.0002738355,0.0003781733,0.002651242,0.7624715,0.2277319],"study_design_scores_gemma":[0.0001550037,0.0001444629,0.003847306,0.0145689,0.0002044344,0.003881369,0.0008474993,0.0004875508,0.0003524602,0.004413384,0.9709927,0.0001048817],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"review","genre_scores_codex":[0.004561604,0.1111522,0.02581957,0.7136343,0.08680423,0.001913982,0.00350235,0.002168671,0.05044321],"genre_scores_gemma":[0.03730844,0.1879439,0.2277981,0.4214331,0.05138956,0.006521119,0.01241354,0.000746854,0.05444537],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.01093953,"threshold_uncertainty_score":0.04338825,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2072319599","doi":"10.1007/s10545-006-0265-4","title":"Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders","year":2006,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":199,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Simon Fraser University","funders":"National Institute of Diabetes and Digestive and Kidney Diseases","keywords":"Dried blood spot; Newborn screening; Multiplex; Tandem mass spectrometry; Dried blood; Chemistry; Spots; Enzyme; Lysosomal storage disease; Whole blood; Mucopolysaccharidosis I; Chromatography; Mass spectrometry; Biochemistry; Enzyme replacement therapy; Medicine; Biology; Bioinformatics; Immunology; Disease; Internal medicine","authors":[{"name":"Michael H. Gelb","is_ca":false},{"name":"František Tureček","is_ca":false},{"name":"Camilla Scott","is_ca":false},{"name":"Néstor Chamoles","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01306869691942089,"gpt":0.2724643409575254,"spread":0.2593956440381044,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001519402,0.0009191332,0.0005738427,0.001757142,0.0002699317,0.0006465997,0.0004878255,0.0006170174,0.002086852],"category_scores_gemma":[0.001323167,0.0002992578,0.0002939011,0.0005553021,0.0002410532,0.0004344174,0.0004031336,0.0006127742,0.001432432],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002973894,"about_ca_system_score_gemma":0.0002972758,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005004806,"about_ca_topic_score_gemma":0.001178248,"domain_scores_codex":[0.9991649,0.0001945864,0.00008191431,0.0001718289,0.0003338926,0.00005286213],"domain_scores_gemma":[0.9994447,0.0001211392,0.0000631568,0.00004535525,0.0002151165,0.0001105394],"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":[0.0002924521,0.0001192065,0.007350567,0.000224215,0.00007740937,0.0002730819,0.00006757099,0.0004199588,0.9391743,0.0003459138,0.00262874,0.0490266],"study_design_scores_gemma":[0.00003345963,0.0005813083,0.008308612,0.00003087421,0.0001198273,0.001377964,0.00004181944,0.005491898,0.9722905,0.0003023003,0.011368,0.00005348211],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.4934125,0.02955252,0.4523428,0.001537805,0.001600921,0.001278699,0.006788245,0.004223029,0.009263502],"genre_scores_gemma":[0.5361481,0.0088798,0.4371693,0.0009246114,0.000351626,0.0005382158,0.004100617,0.0001300549,0.0117576],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002086852,"threshold_uncertainty_score":0.008035421,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W1964590451","doi":"10.1007/s10545-013-9665-4","title":"Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management","year":2013,"lang":"en","type":"review","venue":"Journal of Inherited Metabolic Disease","topic":"Diabetes, Cardiovascular Risks, and Lipoproteins","field":"Medicine","cited_by":198,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"Western University","funders":"Canadian Institutes of Health Research","keywords":"Microsomal triglyceride transfer protein; Apolipoprotein B; Internal medicine; Hypocholesterolemia; Endocrinology; Chylomicron; Medicine; Lipoprotein; Malabsorption; Steatosis; Biology; Very low-density lipoprotein; Cholesterol","authors":[{"name":"Joo-Ho Lee","is_ca":true},{"name":"Robert A. Hegele","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.04443781358988139,"gpt":0.3317762638322563,"spread":0.2873384502423749,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.004013902,0.003426488,0.002649825,0.005676086,0.002628782,0.00353678,0.004562963,0.007363379,0.002273166],"category_scores_gemma":[0.00389765,0.0007841652,0.001112821,0.00132531,0.003108491,0.006748981,0.006755325,0.0112475,0.001698865],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.004766669,"about_ca_system_score_gemma":0.006758529,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005265031,"about_ca_topic_score_gemma":0.004855088,"domain_scores_codex":[0.9980568,0.0005428353,0.0003961329,0.0002537739,0.000455608,0.0002949126],"domain_scores_gemma":[0.9981924,0.0003005258,0.0001830687,0.00005755536,0.0006619059,0.0006045373],"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":[0.0003126228,0.001414825,0.03385638,0.002816539,0.0001561034,0.1532483,0.003466757,0.009103438,0.006882641,0.1209333,0.1681293,0.4996798],"study_design_scores_gemma":[0.0002291549,0.0009188639,0.02190295,0.02520442,0.0002804458,0.3027428,0.009175232,0.01480075,0.001371529,0.1771414,0.4456313,0.0006012276],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.01675083,0.4252344,0.1486361,0.3509775,0.008316454,0.002458938,0.0006028285,0.001029697,0.04599329],"genre_scores_gemma":[0.1699305,0.3785818,0.3490528,0.04636615,0.03514871,0.003850092,0.00277634,0.0002822304,0.01401149],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.007363379,"threshold_uncertainty_score":0.03458482,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2092327321","doi":"10.1007/s10545-009-1119-7","title":"Mortality and cause of death in mucopolysaccharidosis type II—a historical review based on data from the Hunter Outcome Survey (HOS)","year":2009,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":181,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Medicine; Mucopolysaccharidosis; Human genetics; Cause of death; Pediatrics; Mucopolysaccharidosis type II; Internal medicine; Genetics; Disease; Enzyme replacement therapy; Biology","authors":[{"name":"Simon Jones","is_ca":false},{"name":"Zsuzsanna Almássy","is_ca":false},{"name":"Michael Beck","is_ca":false},{"name":"Karen Burt","is_ca":false},{"name":"Joe T.R. Clarke","is_ca":true},{"name":"Roberto Giugliani","is_ca":false},{"name":"Christian J. Hendriksz","is_ca":false},{"name":"T Kroepfl","is_ca":false},{"name":"Lawrence A. Lavery","is_ca":false},{"name":"Shau‐Ping Lin","is_ca":false},{"name":"Gunilla Malm","is_ca":false},{"name":"Uma Ramaswami","is_ca":false},{"name":"Radka Tincheva","is_ca":false},{"name":"J. E. Wraith","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.2180319447790979,"gpt":0.4166894313810878,"spread":0.1986574866019899,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001479139,0.000258237,0.0008019414,0.004838397,0.0001765418,0.0007059281,0.0003323561,0.0003178698,0.000617341],"category_scores_gemma":[0.003840059,0.0002502004,0.000592645,0.00529877,0.0004201512,0.0007172139,0.0003843877,0.000379661,0.0001759267],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008857888,"about_ca_system_score_gemma":0.0009472985,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0053531,"about_ca_topic_score_gemma":0.006422702,"domain_scores_codex":[0.9989622,0.0002935637,0.0003739534,0.0001681129,0.0001508421,0.00005133357],"domain_scores_gemma":[0.9959291,0.001770911,0.001271622,0.00009244541,0.0007611001,0.0001747893],"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":[0.001369026,0.00008325442,0.4205036,0.07266756,0.002563033,0.001215481,0.00109866,0.0006595813,0.0007760954,0.001464396,0.02835706,0.4692424],"study_design_scores_gemma":[0.00005736337,0.000492202,0.8677214,0.02774452,0.00244625,0.003691913,0.001151543,0.0002505405,0.0003370875,0.0001824411,0.09586387,0.00006094233],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"review","genre_gemma":"empirical","genre_scores_codex":[0.02553977,0.9720777,0.0001008648,0.0003535876,0.0001627469,0.00001709963,0.001221248,0.000007683187,0.0005192125],"genre_scores_gemma":[0.09948069,0.8983461,0.0001663058,0.0002599358,0.0002562942,0.00004210832,0.001304229,0.000003685804,0.0001406903],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.0053531,"threshold_uncertainty_score":0.01064384,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2940809900","doi":"10.1002/jimd.12104","title":"Recent advances in understanding the molecular genetic basis of mitochondrial disease","year":2019,"lang":"en","type":"review","venue":"Journal of Inherited Metabolic Disease","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":170,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"","funders":"Medical Research Council; Engineering and Physical Sciences Research Council; Lily Foundation; National Institute for Health and Care Research; Medical Research Council Canada; Wellcome Trust","keywords":"Exome sequencing; Computational biology; Biology; Human genetics; Exome; Genomics; DNA sequencing; Disease; Mitochondrial disease; Genome; Bioinformatics; Genetics; Mitochondrial DNA; Gene; Medicine; Mutation","authors":[{"name":"Kyle Thompson","is_ca":false},{"name":"Jack J. Collier","is_ca":false},{"name":"Ruth I.C. Glasgow","is_ca":false},{"name":"Fiona Robertson","is_ca":false},{"name":"Angela Pyle","is_ca":false},{"name":"Emma L. Blakely","is_ca":false},{"name":"Charlotte L. Alston","is_ca":false},{"name":"Monika Oláhová","is_ca":false},{"name":"Robert McFarland","is_ca":false},{"name":"Robert W. Taylor","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.04412088998672755,"gpt":0.3194621091938225,"spread":0.275341219207095,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008406991,0.0008932184,0.001143965,0.00210978,0.0002925626,0.001106389,0.0009537016,0.001163844,0.004132676],"category_scores_gemma":[0.001468114,0.0002552173,0.000507224,0.001991792,0.0007144922,0.001899945,0.001029752,0.00262741,0.00237959],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008662628,"about_ca_system_score_gemma":0.001309823,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009081898,"about_ca_topic_score_gemma":0.001244884,"domain_scores_codex":[0.9997708,0.00004089198,0.00003853059,0.00004464612,0.00008164958,0.00002345991],"domain_scores_gemma":[0.9992425,0.0004123292,0.00007648601,0.00002656059,0.0001666005,0.00007546649],"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":[0.00009092047,0.00004697279,0.0001778204,0.01677803,0.00008790717,0.0002882313,0.00008965372,0.0005097076,0.001982827,0.007362881,0.03777144,0.9348136],"study_design_scores_gemma":[0.00001001977,0.00005167171,0.0006533259,0.002452049,0.00008799795,0.00129218,0.00005495785,0.00007422582,0.0002933967,0.00402555,0.9909874,0.0000173302],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00006525373,0.9981781,0.0001570678,0.0005432035,0.0003424669,0.000002133748,0.00001125254,0.000008414832,0.0006920021],"genre_scores_gemma":[0.0003358302,0.9986684,0.0001582725,0.0001987476,0.0003338983,0.000002380935,0.00001965724,0.000001141383,0.0002816372],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.004132676,"threshold_uncertainty_score":0.01382524,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2021276903","doi":"10.1007/s10545-014-9687-6","title":"Clinical presentation and outcome in a series of 88 patients with the cblC defect","year":2014,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":169,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"McGill University","funders":"Fondazione Pierfranco e Luisa Mariani; Ministero della Salute","keywords":"Pediatrics; Medicine; Lethargy; Newborn screening; Retrospective cohort study; Cohort; Prospective cohort study; Hydroxocobalamin; Folinic acid; Internal medicine; Vitamin B12; Chemotherapy; Cyanocobalamin","authors":[{"name":"Sabine Fischer","is_ca":false},{"name":"Martina Huemer","is_ca":false},{"name":"Matthias R. Baumgartner","is_ca":false},{"name":"Federica Deodato","is_ca":false},{"name":"Diana Ballhausen","is_ca":false},{"name":"Avihu Boneh","is_ca":false},{"name":"Alberto Burlina","is_ca":false},{"name":"R. Cerone","is_ca":false},{"name":"Paula Garcia","is_ca":false},{"name":"Gülden Gökçay","is_ca":false},{"name":"Stephanie Grünewald","is_ca":false},{"name":"Johannes Häberle","is_ca":false},{"name":"Jaak Jaeken","is_ca":false},{"name":"David Ketteridge","is_ca":false},{"name":"Martin Lindner","is_ca":false},{"name":"Hanna Mandel","is_ca":false},{"name":"Diego Martinelli","is_ca":false},{"name":"Esmeralda Martins","is_ca":false},{"name":"Karl Otfried Schwab","is_ca":false},{"name":"Sarah C. Gruenert","is_ca":false},{"name":"Bernd Schwahn","is_ca":false},{"name":"L. Sztriha","is_ca":false},{"name":"Maren Tomaske","is_ca":false},{"name":"Friedrich K. Trefz","is_ca":false},{"name":"Laura Vilarinho","is_ca":false},{"name":"David S. Rosenblatt","is_ca":true},{"name":"Brian Fowler","is_ca":false},{"name":"Carlo Dionisi‐Vici","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.02619391259640081,"gpt":0.347717038693921,"spread":0.3215231260975202,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002827295,0.0006152639,0.0006183821,0.0009852274,0.0007733878,0.0005245191,0.0004033154,0.000675489,0.001457222],"category_scores_gemma":[0.001627798,0.0003448751,0.0003344453,0.0006886507,0.0005750418,0.0003027158,0.000590135,0.0005393187,0.0004082032],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003902114,"about_ca_system_score_gemma":0.0003464529,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001520518,"about_ca_topic_score_gemma":0.001016343,"domain_scores_codex":[0.9995916,0.00006256441,0.00005662841,0.000118863,0.0000696851,0.0001006788],"domain_scores_gemma":[0.9990368,0.0001671352,0.0003428535,0.00008425441,0.0000874357,0.0002815472],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000212075,0.0000889348,0.981978,0.0000179997,0.00002589429,0.0147431,0.0001797934,0.00006329124,0.0006012304,0.00001437181,0.0001780467,0.001897268],"study_design_scores_gemma":[0.00005032134,0.0009049044,0.9112993,0.00002255153,0.00004239309,0.08616005,0.0004289009,0.0002131971,0.0002859135,0.00004060506,0.0005327594,0.0000191138],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.999298,0.0002352765,0.00006694708,0.00002317156,0.000006663805,0.00001278399,0.0001101007,0.000005363666,0.0002417133],"genre_scores_gemma":[0.9994802,0.00008547636,0.00006741287,0.00001776962,0.0000154597,0.00001408839,0.0002250546,0.000003495164,0.00009097895],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001520518,"threshold_uncertainty_score":0.004874885,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W1525752918","doi":"10.1023/a:1010577512912","title":"Glycine <b><i>N</i></b><b>‐methyltransferase deficiency: A novel inborn error causing persistent isolated hypermethioninaemia</b>","year":2001,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":150,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"McGill University Health Centre","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Institute on Aging","keywords":"Cystathionine beta synthase; Methionine; Methionine Adenosyltransferase; Internal medicine; Homocystinuria; Endocrinology; Sarcosine; Methionine synthase; Biology; Homocysteine; Methylenetetrahydrofolate reductase; Methyltransferase; Biochemistry; Glycine; Medicine; Allele; Amino acid; Methylation; Gene","authors":[{"name":"S. Harvey Mudd","is_ca":false},{"name":"R. Cerone","is_ca":false},{"name":"M. C. Schiaffino","is_ca":false},{"name":"A. R. Fantasia","is_ca":false},{"name":"Giuseppe Minniti","is_ca":false},{"name":"U. Caruso","is_ca":false},{"name":"Renata Lorini","is_ca":false},{"name":"David Watkins","is_ca":true},{"name":"Nora V. Matiaszuk","is_ca":true},{"name":"David S. Rosenblatt","is_ca":true},{"name":"Bernd Schwahn","is_ca":true},{"name":"Rima Rozen","is_ca":true},{"name":"Leighton LeGros","is_ca":false},{"name":"Malak Kotb","is_ca":false},{"name":"Antonieta Capdevila","is_ca":false},{"name":"Zigmund Luka","is_ca":false},{"name":"James D. Finkelstein","is_ca":false},{"name":"Albert Tangerman","is_ca":false},{"name":"Sally P. Stabler","is_ca":false},{"name":"Robert H. Allen","is_ca":false},{"name":"Conrad Wagner","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.04158899041843732,"gpt":0.3144898619095416,"spread":0.2729008714911043,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001412689,0.001395047,0.0003248676,0.0006200372,0.0005050431,0.0003109551,0.0004434891,0.001219433,0.001781026],"category_scores_gemma":[0.0006660704,0.0002941831,0.0003907538,0.0003225527,0.0007806888,0.0003002045,0.0004962824,0.0005287764,0.0005326457],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003500893,"about_ca_system_score_gemma":0.0003185354,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001377344,"about_ca_topic_score_gemma":0.001338294,"domain_scores_codex":[0.9998133,0.0000252339,0.00002183954,0.00007670923,0.00002569834,0.00003721875],"domain_scores_gemma":[0.9995514,0.00007324955,0.0002094691,0.00003355608,0.00002246378,0.0001097888],"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":[0.0005244908,0.0001414881,0.1180711,0.0002073128,0.0001071066,0.7121096,0.001474154,0.0002862058,0.1510208,0.0005674776,0.00102247,0.01446765],"study_design_scores_gemma":[0.00003061668,0.0004935358,0.07543407,0.00002695898,0.00008933485,0.9067214,0.0002202294,0.0003831568,0.01233983,0.0001715093,0.004063017,0.00002639882],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9958217,0.0007154546,0.001250085,0.0004233519,0.00003413051,0.00001747349,0.0001296296,0.0001062795,0.001501858],"genre_scores_gemma":[0.9974063,0.0003853196,0.001003297,0.0001534669,0.00005492311,0.00001027777,0.0001042326,0.00002707434,0.0008550073],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001781026,"threshold_uncertainty_score":0.00595808,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2914250213","doi":"10.1002/jimd.12024","title":"International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up","year":2019,"lang":"en","type":"review","venue":"Journal of Inherited Metabolic Disease","topic":"Glycosylation and Glycoproteins Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":148,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Montreal Children's Hospital","funders":"","keywords":"Guideline; Presentation (obstetrics); Medicine; Intensive care medicine; Pediatrics; Multidisciplinary approach; Clinical Practice; Pathology; Surgery; Physical therapy","authors":[{"name":"Ruqaiah Altassan","is_ca":true},{"name":"Romain Péanne","is_ca":false},{"name":"Jaak Jaeken","is_ca":false},{"name":"Rita Barone","is_ca":false},{"name":"Muad Bidet","is_ca":false},{"name":"Delphine Borgel","is_ca":false},{"name":"Sandra Brasil","is_ca":false},{"name":"David Cassiman","is_ca":false},{"name":"Anna Čechová","is_ca":false},{"name":"David Coman","is_ca":false},{"name":"Javier Corral","is_ca":false},{"name":"Joana Correia","is_ca":false},{"name":"María Eugenia de la Morena‐Barrio","is_ca":false},{"name":"Pascale de Lonlay","is_ca":false},{"name":"Vanessa dos Reis","is_ca":false},{"name":"Carlos R. Ferreira","is_ca":false},{"name":"Agata Fiumara","is_ca":false},{"name":"Rita Francisco","is_ca":false},{"name":"Hudson H. Freeze","is_ca":false},{"name":"Simone Funke","is_ca":false},{"name":"Thatjana Gardeitchik","is_ca":false},{"name":"Gert Matthijs","is_ca":false},{"name":"Muriel Girad","is_ca":false},{"name":"M. Girós","is_ca":false},{"name":"Stephanie Grünewald","is_ca":false},{"name":"Trinidad Hernández‐Caselles","is_ca":false},{"name":"Tomáš Honzík","is_ca":false},{"name":"Marlen Hutter","is_ca":false},{"name":"Donna M. Krasnewich","is_ca":false},{"name":"Christina Lam","is_ca":false},{"name":"Joy Lee","is_ca":false},{"name":"Dirk J. Lefeber","is_ca":false},{"name":"Dorinda Marques‐da‐Silva","is_ca":false},{"name":"Antonio Federico Martínez‐Monseny","is_ca":false},{"name":"Hossein Moravej","is_ca":false},{"name":"Katrin Õunap","is_ca":false},{"name":"Carlota Pascoal","is_ca":false},{"name":"Tiffany Pascreau","is_ca":false},{"name":"Marc C. Patterson","is_ca":false},{"name":"Dulce Quelhas","is_ca":false},{"name":"Kimiyo Raymond","is_ca":false},{"name":"Peymaneh Sarkhail","is_ca":false},{"name":"Manuel Schiff","is_ca":false},{"name":"Małgorzata Seroczyńska","is_ca":false},{"name":"Mercedes Serrano","is_ca":false},{"name":"Nathalie Séta","is_ca":false},{"name":"Jolanta Sykut‐Cegielska","is_ca":false},{"name":"Christian Thiel","is_ca":false},{"name":"Federic Tort","is_ca":false},{"name":"Mari‐Anne Vals","is_ca":false},{"name":"Paula A. Videira","is_ca":false},{"name":"Peter Witters","is_ca":false},{"name":"Renate Zeevaert","is_ca":false},{"name":"Éva Morava","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.1310330075657564,"gpt":0.4430740058459841,"spread":0.3120409982802277,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002474837,0.001105754,0.001775767,0.005061936,0.0005615242,0.001172157,0.002591098,0.003003909,0.007976984],"category_scores_gemma":[0.007318929,0.0003909896,0.002473404,0.003183655,0.0005073079,0.001221922,0.001068581,0.002330608,0.00380351],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001638766,"about_ca_system_score_gemma":0.005179833,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005757326,"about_ca_topic_score_gemma":0.008492962,"domain_scores_codex":[0.9979033,0.0005825341,0.0007331047,0.0001191094,0.0005517742,0.0001101009],"domain_scores_gemma":[0.9965045,0.001391764,0.0006002768,0.00009014583,0.001282567,0.0001306669],"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":[0.0001560049,0.0001361037,0.000574104,0.04458644,0.0003040426,0.0007469576,0.0002496754,0.000580801,0.001073712,0.006635882,0.2316518,0.7133045],"study_design_scores_gemma":[0.0001036994,0.00006048312,0.001535297,0.05580571,0.0005814015,0.001801412,0.0001257764,0.0001796386,0.0003604378,0.002823734,0.9365882,0.00003425294],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0005652683,0.9680837,0.003613549,0.01002587,0.002085811,0.0005067661,0.001752841,0.0002112721,0.01315486],"genre_scores_gemma":[0.004474248,0.9534246,0.0236228,0.006881606,0.0007300482,0.001015903,0.004100025,0.00005831241,0.005692519],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.007976984,"threshold_uncertainty_score":0.02668566,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W1966284322","doi":"10.1007/s10545-006-0451-4","title":"Guideline for the diagnosis and management of glutaryl‐CoA dehydrogenase deficiency (glutaric aciduria type I)","year":2007,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":146,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"University of Manitoba; Children's Hospital of Winnipeg","funders":"","keywords":"Guideline; Medicine; Newborn screening; Glutaric acid; Pediatrics; Internal medicine; Carnitine; Disease; Dystonia; Pathology; Chemistry","authors":[{"name":"S. Kölker","is_ca":false},{"name":"E. Christensen","is_ca":false},{"name":"James V. Leonard","is_ca":false},{"name":"Cheryl R. Greenberg","is_ca":true},{"name":"Alberto Burlina","is_ca":false},{"name":"Alessandro P. Burlina","is_ca":false},{"name":"Marjorie Dixon","is_ca":false},{"name":"M. Durán","is_ca":false},{"name":"Stephen I. Goodman","is_ca":false},{"name":"David M. Koeller","is_ca":false},{"name":"Edith Müller","is_ca":false},{"name":"E. R. Naughten","is_ca":false},{"name":"Eva Neumaier‐Probst","is_ca":false},{"name":"Jürgen G. Okun","is_ca":false},{"name":"Mårten Kyllerman","is_ca":false},{"name":"R. Surtees","is_ca":false},{"name":"Bridget Wilcken","is_ca":false},{"name":"Georg F. Hoffmann","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01621130657284123,"gpt":0.2927301981228788,"spread":0.2765188915500376,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002678538,0.00103714,0.001498016,0.002464875,0.0006268988,0.001237116,0.003826124,0.005503352,0.01348441],"category_scores_gemma":[0.01009031,0.0004551076,0.00197642,0.001743326,0.0003942784,0.00119107,0.001412077,0.004458121,0.01129166],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002216619,"about_ca_system_score_gemma":0.005368656,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01511804,"about_ca_topic_score_gemma":0.02211917,"domain_scores_codex":[0.9969727,0.001131786,0.0007452506,0.0001306538,0.0008075127,0.0002121484],"domain_scores_gemma":[0.9939305,0.001374435,0.0007211511,0.0001451659,0.003415313,0.0004134396],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00007182277,0.0001417454,0.0007258546,0.002322468,0.00005086251,0.0006011093,0.0001450724,0.0004727658,0.0004637163,0.002436487,0.7749634,0.2176047],"study_design_scores_gemma":[0.0001784682,0.00008619808,0.002729342,0.01492435,0.000114391,0.001372794,0.0001090143,0.0004340026,0.0002701569,0.002151516,0.9775912,0.00003876858],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"review","genre_gemma":"methods","genre_scores_codex":[0.006944812,0.3109512,0.04876197,0.2939563,0.02183393,0.009502153,0.02808525,0.004481385,0.2754829],"genre_scores_gemma":[0.03222581,0.3218069,0.2525967,0.200325,0.007472564,0.01445262,0.07117151,0.0008236804,0.0991252],"genre_candidate":"methods","genre_consensus":null,"teacher_disagreement_score":0.01511804,"threshold_uncertainty_score":0.04510987,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2094498976","doi":"10.1007/s10545-007-0690-z","title":"Newborn screening in North America","year":2007,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":143,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true},"ca_institutions":"","funders":"","keywords":"Newborn screening; Medicine; Congenital hypothyroidism; Congenital adrenal hyperplasia; Family medicine; Pediatrics","authors":[{"name":"Bradford L. Therrell","is_ca":false},{"name":"J. F. Adams","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.008555733056040278,"gpt":0.2528143154882795,"spread":0.2442585824322393,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001968183,0.0003205323,0.0003859988,0.001489639,0.002374812,0.001762118,0.0006381716,0.001496483,0.01421644],"category_scores_gemma":[0.003459594,0.0001463764,0.0002526669,0.001729065,0.001438285,0.001091424,0.002294267,0.001764651,0.002071151],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.004972044,"about_ca_system_score_gemma":0.01041109,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.1014503,"about_ca_topic_score_gemma":0.1027889,"domain_scores_codex":[0.9988583,0.0003664705,0.00008785653,0.000174565,0.0003013297,0.0002114183],"domain_scores_gemma":[0.9978036,0.0003562108,0.000213291,0.0001008458,0.0008742572,0.0006517963],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"observational","study_design_scores_codex":[0.00008293208,0.00009047851,0.02179444,0.0004991823,0.00002740423,0.003085054,0.003682446,0.000128912,0.0009093209,0.07358322,0.4605827,0.4355338],"study_design_scores_gemma":[0.00001363524,0.00004407933,0.02122547,0.0008653062,0.00001485512,0.003424221,0.001136823,0.00006692718,0.0001649216,0.004220833,0.9688023,0.00002063978],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"other","genre_gemma":"review","genre_scores_codex":[0.03005939,0.2505746,0.0053781,0.1565477,0.01269017,0.0002300089,0.002088673,0.0009244871,0.5415069],"genre_scores_gemma":[0.3236627,0.2980684,0.01968815,0.1498837,0.007405758,0.0007495719,0.003214755,0.0003716202,0.1969552],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.8985497,"threshold_uncertainty_score":0.2017196,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W1569055531","doi":"10.1023/a:1024481016187","title":"Carnitine transport: Pathophysiology and metabolism of known molecular defects","year":2003,"lang":"en","type":"review","venue":"Journal of Inherited Metabolic Disease","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":141,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Heart and Stroke Foundation of Canada","keywords":"Organic cation transport proteins; Carnitine; Compound heterozygosity; Biology; Endocrinology; Internal medicine; Apical membrane; Cardiomyopathy; Pharmacology; Transporter; Medicine; Mutation; Genetics; Heart failure; Gene","authors":[{"name":"Ingrid Tein","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01124786044001422,"gpt":0.2711823435008016,"spread":0.2599344830607874,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001581357,0.0006790215,0.0003661343,0.0008561324,0.0001984667,0.0004052776,0.0004292897,0.0007509388,0.001134967],"category_scores_gemma":[0.0002622031,0.000158271,0.0002173269,0.0005086995,0.0005619461,0.0005128877,0.0003732615,0.0003550077,0.0004508553],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006578038,"about_ca_system_score_gemma":0.0003600334,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001057864,"about_ca_topic_score_gemma":0.000722354,"domain_scores_codex":[0.9999026,0.00001211066,0.00001533634,0.00002884226,0.00001779405,0.00002333865],"domain_scores_gemma":[0.99983,0.00002324309,0.00007208801,0.00001157749,0.00002191666,0.00004107154],"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":[0.003716133,0.000477793,0.2311949,0.004491597,0.0003973652,0.1117836,0.0009942328,0.001350095,0.3092041,0.01118613,0.006024274,0.3191798],"study_design_scores_gemma":[0.0001532706,0.001530885,0.4508384,0.000807433,0.0004059763,0.4302902,0.0006986927,0.002733322,0.04789304,0.006002296,0.05856575,0.0000808164],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"review","genre_scores_codex":[0.6790417,0.3028147,0.005641599,0.001433299,0.0001099946,0.00006095836,0.0006643692,0.0003276244,0.009905674],"genre_scores_gemma":[0.9373549,0.05667005,0.002247368,0.0002218702,0.000144834,0.00004189687,0.0005056326,0.00003785421,0.002775626],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.001134967,"threshold_uncertainty_score":0.004772663,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W1989672616","doi":"10.1023/b:boli.0000045769.96657.af","title":"Neonatal screening for glutaryl‐CoA dehydrogenase deficiency","year":2004,"lang":"en","type":"review","venue":"Journal of Inherited Metabolic Disease","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":139,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"University of Manitoba","funders":"","keywords":"Newborn screening; Human genetics; Medicine; Metabolic disease; Endocrinology; Internal medicine; Biology; Genetics; Pediatrics; Gene","authors":[{"name":"Martin Lindner","is_ca":false},{"name":"Stefan Kölker","is_ca":false},{"name":"Andreas Schulze","is_ca":false},{"name":"E. Christensen","is_ca":false},{"name":"Cheryl R. Greenberg","is_ca":true},{"name":"Georg F. Hoffmann","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.03034979945826385,"gpt":0.3218869112672541,"spread":0.2915371118089903,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000571243,0.0007229813,0.001001239,0.001377723,0.0001240872,0.0003878403,0.0006274086,0.0006571281,0.00149054],"category_scores_gemma":[0.0008021218,0.0001257866,0.0001952297,0.001021404,0.0002686157,0.0005701619,0.0002039706,0.000532398,0.001446607],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002855751,"about_ca_system_score_gemma":0.0004085773,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009870229,"about_ca_topic_score_gemma":0.001107863,"domain_scores_codex":[0.9998274,0.00003950109,0.00002035115,0.0000302075,0.00006876766,0.00001375375],"domain_scores_gemma":[0.9996747,0.0001585369,0.00003482271,0.000009448002,0.00009516953,0.00002736766],"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":[0.00006684006,0.00005199789,0.0008757276,0.002147265,0.00003348449,0.0008516437,0.00002241712,0.0001553346,0.001521842,0.0004601104,0.007686658,0.9861267],"study_design_scores_gemma":[0.00007701279,0.0006254906,0.01771559,0.004158554,0.0003134377,0.04370071,0.0002279364,0.0005959478,0.00657699,0.002175423,0.9237826,0.00005026246],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.001257734,0.9948683,0.001037499,0.0004594149,0.000219381,0.000006966975,0.00001852411,0.00003617448,0.002096016],"genre_scores_gemma":[0.00600822,0.9912894,0.000916107,0.0002127269,0.0001706141,0.000007867035,0.00003607509,0.000003224024,0.001355829],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.00149054,"threshold_uncertainty_score":0.004986346,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2147044529","doi":"10.1007/s10545-012-9492-z","title":"Natural disease course and genotype‐phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases","year":2012,"lang":"en","type":"review","venue":"Journal of Inherited Metabolic Disease","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":132,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"McMaster University","funders":"","keywords":"Hypotonia; Failure to thrive; Psychomotor retardation; Disease; Leukoencephalopathy; Mitochondrial disease; Atrophy; Leigh disease; Biology; Pathology; Medicine; Genetics; Pediatrics; Gene; Mitochondrial DNA","authors":[{"name":"Saskia Koene","is_ca":false},{"name":"Richard J. Rodenburg","is_ca":false},{"name":"Marjo S. van der Knaap","is_ca":false},{"name":"Michèl A.A.P. Willemsen","is_ca":false},{"name":"Wolfgang Sperl","is_ca":false},{"name":"Vincent Laugel","is_ca":false},{"name":"Elsebet Østergaard","is_ca":false},{"name":"Mark A. Tarnopolsky","is_ca":true},{"name":"Miguel Á. Martín","is_ca":false},{"name":"Victoria Nesbitt","is_ca":false},{"name":"Janice M. Fletcher","is_ca":false},{"name":"Simon Edvardson","is_ca":false},{"name":"Vincent Procaccio","is_ca":false},{"name":"Abdelhamid Slama","is_ca":false},{"name":"Lambert P. W. J. den van Heuvel","is_ca":false},{"name":"J.A.M. Smeitink","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.05226088216485485,"gpt":0.3082657871109195,"spread":0.2560049049460646,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008255269,0.000827831,0.001057018,0.001583232,0.0002900145,0.0009552404,0.0009302469,0.001297229,0.0005266156],"category_scores_gemma":[0.003828075,0.0004129577,0.0005632489,0.001159764,0.001082422,0.00155097,0.0005274163,0.0008799332,0.0004816311],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005771703,"about_ca_system_score_gemma":0.0003964733,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00163546,"about_ca_topic_score_gemma":0.00123152,"domain_scores_codex":[0.9991952,0.0001286167,0.0002218001,0.0002129984,0.0001506152,0.00009085349],"domain_scores_gemma":[0.9980491,0.0008989691,0.0003677837,0.0001662784,0.0003236906,0.000194148],"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":[0.0006019097,0.000181064,0.2604578,0.004795686,0.0006126804,0.1789595,0.003743446,0.001180065,0.005979446,0.0009746294,0.02796512,0.5145487],"study_design_scores_gemma":[0.0001024645,0.0004767364,0.2010095,0.002399793,0.0004781238,0.7414899,0.002055148,0.0005617344,0.001450725,0.002126913,0.0476537,0.0001952243],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"review","genre_scores_codex":[0.518457,0.4637577,0.004397046,0.00410501,0.0009254366,0.0001098252,0.0006667207,0.0003531485,0.007228019],"genre_scores_gemma":[0.637508,0.3500092,0.003823926,0.003302217,0.001923493,0.0001057528,0.001586271,0.0001486701,0.001592459],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.00163546,"threshold_uncertainty_score":0.004365861,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W3098597689","doi":"10.1002/jimd.12332","title":"Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency","year":2020,"lang":"en","type":"review","venue":"Journal of Inherited Metabolic Disease","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":118,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"University of British Columbia; McGill University Health Centre; BC Children's Hospital; Montreal Children's Hospital","funders":"UCB Pharma; Eisai; Ministero dell’Istruzione, dell’Università e della Ricerca; University College London; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; Epilepsy Research UK; NHS Health Scotland; Zogenix; National Institute for Health and Care Research; Dravet Syndrome UK; Tenovus; GW Pharmaceuticals","keywords":"Medicine; Epilepsy; Pyridoxine; Pharmacology; Pediatrics; Internal medicine; Psychiatry","authors":[{"name":"Curtis R. Coughlin","is_ca":false},{"name":"Laura A. Tseng","is_ca":false},{"name":"José E. Abdenur","is_ca":false},{"name":"Catherine Ashmore","is_ca":false},{"name":"François Boemer","is_ca":false},{"name":"Levinus A. Bok","is_ca":false},{"name":"Monica Boyer","is_ca":false},{"name":"Daniela Buhaş","is_ca":true},{"name":"Peter T. Clayton","is_ca":false},{"name":"Anibh M. Das","is_ca":false},{"name":"Hanka Dekker","is_ca":false},{"name":"Athanasios Evangeliou","is_ca":false},{"name":"François Feillet","is_ca":false},{"name":"Emma Footitt","is_ca":false},{"name":"Sídney M. Gospe","is_ca":false},{"name":"Hans Hartmann","is_ca":false},{"name":"Majdi Kara","is_ca":false},{"name":"Erle Kristensen","is_ca":false},{"name":"Joy Lee","is_ca":false},{"name":"R. Lilje","is_ca":false},{"name":"Nicola Longo","is_ca":false},{"name":"Roelineke J. Lunsing","is_ca":false},{"name":"Philippa B. Mills","is_ca":false},{"name":"Maria Papadopoulou","is_ca":false},{"name":"Phillip L. Pearl","is_ca":false},{"name":"Flávia Piazzon","is_ca":false},{"name":"Barbara Plecko","is_ca":false},{"name":"Arushi Gahlot Saini","is_ca":false},{"name":"Saikat Santra","is_ca":false},{"name":"Damayanti Rusli Sjarif","is_ca":false},{"name":"Sylvia Stöckler‐Ipsiroglu","is_ca":true},{"name":"Pasquale Striano","is_ca":false},{"name":"Johan L.K. Van Hove","is_ca":false},{"name":"Nanda M. Verhoeven‐Duif","is_ca":false},{"name":"Frits A. Wijburg","is_ca":false},{"name":"Sameer M. Zuberi","is_ca":false},{"name":"Clara van Karnebeek","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.06564829603812465,"gpt":0.3573811110007694,"spread":0.2917328149626447,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.009325004,0.0012865,0.001854869,0.004294284,0.001214652,0.001851184,0.005636251,0.007755379,0.006411098],"category_scores_gemma":[0.0250555,0.0007169669,0.003992022,0.002728292,0.0009930695,0.001737148,0.001987841,0.005823371,0.004194159],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.003469634,"about_ca_system_score_gemma":0.01197304,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01423589,"about_ca_topic_score_gemma":0.02061201,"domain_scores_codex":[0.990486,0.003469523,0.002874865,0.0003395092,0.002278971,0.0005511559],"domain_scores_gemma":[0.972339,0.005973827,0.002691678,0.0005088296,0.01714812,0.001338508],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001848997,0.0003653891,0.001990882,0.006869443,0.0002305102,0.00184852,0.0005326853,0.001353924,0.00131382,0.007236402,0.6067727,0.3713007],"study_design_scores_gemma":[0.0004416871,0.0002076944,0.005706928,0.03200631,0.0007051162,0.003676258,0.0005893147,0.001126854,0.0009448986,0.009679154,0.9448083,0.0001075342],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.008373051,0.3940711,0.05641545,0.3757092,0.02458072,0.006585252,0.007642276,0.001809278,0.1248137],"genre_scores_gemma":[0.0484815,0.3992595,0.3124767,0.1342765,0.008380503,0.01251344,0.0335772,0.0004782282,0.05055636],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.01423589,"threshold_uncertainty_score":0.04931587,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2041514181","doi":"10.1007/s10545-009-1034-y","title":"Succinic semialdehyde dehydrogenase deficiency: Lessons from mice and men","year":2009,"lang":"en","type":"review","venue":"Journal of Inherited Metabolic Disease","topic":"Alcohol Consumption and Health Effects","field":"Medicine","cited_by":114,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institutes of Health; Pediatric Neurotransmitter Diseases Association; National Institute of Neurological Disorders and Stroke; Johns Hopkins University","keywords":"Human genetics; Medicine; Dehydrogenase; Genetics; Internal medicine; Endocrinology; Biology; Physiology; Biochemistry; Enzyme; Gene","authors":[{"name":"Phillip L. Pearl","is_ca":false},{"name":"K. Michael Gibson","is_ca":false},{"name":"Miguel A. Cortez","is_ca":true},{"name":"Yingli Wu","is_ca":true},{"name":"O. Carter Snead","is_ca":true},{"name":"Ina Knerr","is_ca":false},{"name":"K. Forester","is_ca":false},{"name":"Jordyn Pettiford","is_ca":false},{"name":"C. Jakobs","is_ca":false},{"name":"William H. Theodore","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.1207365159447198,"gpt":0.4332280785412717,"spread":0.3124915625965519,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00150713,0.001186916,0.0008996144,0.0009062109,0.0003787072,0.0009577652,0.001091053,0.001448086,0.002262495],"category_scores_gemma":[0.0007862628,0.0004397511,0.0006079879,0.0004041735,0.001347146,0.001864662,0.0008421399,0.003864281,0.001261921],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007980753,"about_ca_system_score_gemma":0.0005779451,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001393248,"about_ca_topic_score_gemma":0.002191271,"domain_scores_codex":[0.999656,0.00008930067,0.00004231654,0.00007581271,0.00007817177,0.00005842267],"domain_scores_gemma":[0.9995797,0.0001101355,0.00005418871,0.00007266986,0.00005937032,0.0001238516],"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":[0.002793452,0.001312485,0.006395958,0.003507578,0.0004120153,0.00778825,0.001315179,0.002800806,0.2783568,0.1383057,0.09562595,0.4613858],"study_design_scores_gemma":[0.0002548173,0.001716561,0.01289023,0.001530571,0.0002733285,0.01049041,0.0005607652,0.001592484,0.07457237,0.09362797,0.8023294,0.0001611643],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.1378136,0.6092705,0.08111724,0.1063427,0.006681747,0.0002091711,0.00677634,0.00332238,0.04846637],"genre_scores_gemma":[0.3406467,0.5106422,0.06460599,0.03218611,0.003929361,0.0004030453,0.002766618,0.0009381502,0.04388178],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.002262495,"threshold_uncertainty_score":0.007970572,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2915962816","doi":"10.1002/jimd.12053","title":"An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency","year":2019,"lang":"en","type":"review","venue":"Journal of Inherited Metabolic Disease","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":108,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"","funders":"Medical Research Council; Rosetrees Trust; Ataxia UK; National Institute for Health and Care Research; Medical Research Council Canada; Brain Research UK; Wellcome Trust","keywords":"Riboflavin; Medicine; Ataxia; Human genetics; Biology; Bioinformatics; Genetics; Neuroscience; Gene","authors":[{"name":"Benjamin O’Callaghan","is_ca":false},{"name":"Annet M. Bosch","is_ca":false},{"name":"Henry Houlden","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.05857724708287661,"gpt":0.3882518201347006,"spread":0.329674573051824,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003840242,0.0009400549,0.001190041,0.003195952,0.0002603294,0.0008726228,0.0008056632,0.0009934286,0.005089469],"category_scores_gemma":[0.0008516443,0.0002963061,0.0005747818,0.002872581,0.0003188523,0.001357974,0.0005399217,0.001971027,0.002481223],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005837731,"about_ca_system_score_gemma":0.0007748042,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001048748,"about_ca_topic_score_gemma":0.002482032,"domain_scores_codex":[0.9998199,0.00003233223,0.00004278034,0.00003072373,0.00005750474,0.00001677702],"domain_scores_gemma":[0.9995918,0.0002135362,0.00005638076,0.00001110228,0.00008779342,0.00003939102],"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":[0.00008672298,0.00009243665,0.0005504655,0.01516289,0.0001559423,0.001425634,0.0001290309,0.0003801783,0.002005483,0.002419994,0.1584978,0.8190935],"study_design_scores_gemma":[0.00001083824,0.00005811154,0.001183637,0.003484697,0.0001321663,0.007398278,0.00005136328,0.00005644877,0.0001675921,0.00094042,0.9865002,0.00001615999],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0001993177,0.9964647,0.0002191492,0.0005472831,0.001043098,0.000005277082,0.00006019244,0.00001646832,0.00144446],"genre_scores_gemma":[0.0007245073,0.9956598,0.0004479782,0.0006049768,0.001077122,0.000008024437,0.000135677,0.000004250654,0.001337557],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.005089469,"threshold_uncertainty_score":0.01702595,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2882999734","doi":"10.1002/jimd.12045","title":"The genotypic spectrum of <i>ALDH7A1</i> mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy","year":2019,"lang":"en","type":"review","venue":"Journal of Inherited Metabolic Disease","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":102,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"University of British Columbia","funders":"National Center for Advancing Translational Sciences; Georgia Clinical and Translational Science Alliance; National Institutes of Health; Seattle Children's Research Institute","keywords":"Epilepsy; Population; In silico; Medicine; Pyridoxine; Genetic testing; Genotype; Disease; Bioinformatics; Encephalopathy; Genetics; Biology; Pediatrics; Internal medicine; Gene; Psychiatry","authors":[{"name":"Curtis R. Coughlin","is_ca":false},{"name":"Michael A. Swanson","is_ca":false},{"name":"Elaine Spector","is_ca":false},{"name":"Naomi Meeks","is_ca":false},{"name":"Kathryn E. Kronquist","is_ca":false},{"name":"Mezhgan Aslamy","is_ca":false},{"name":"Michael F. Wempe","is_ca":false},{"name":"Clara van Karnebeek","is_ca":true},{"name":"Sídney M. Gospe","is_ca":false},{"name":"Verena G. Aziz","is_ca":false},{"name":"Becky Pinjou Tsai","is_ca":false},{"name":"Hanlin Gao","is_ca":false},{"name":"Péter L. Nagy","is_ca":false},{"name":"Keith Hyland","is_ca":false},{"name":"Silvy J.M. van Dooren","is_ca":false},{"name":"Gajja S. Salomons","is_ca":false},{"name":"Johan L.K. Van Hove","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.02107249830321632,"gpt":0.307111003045848,"spread":0.2860385047426317,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001908949,0.0002974796,0.0001936067,0.0007819519,0.0001734719,0.0002812379,0.0001216315,0.0001753808,0.001351422],"category_scores_gemma":[0.0004878822,0.00006577257,0.0002324945,0.0005106474,0.000175644,0.0001129973,0.0001845064,0.00009893881,0.0003115305],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00009916691,"about_ca_system_score_gemma":0.0001084782,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007424718,"about_ca_topic_score_gemma":0.001242756,"domain_scores_codex":[0.9998049,0.00002992868,0.00004131166,0.00005366922,0.00004356612,0.00002658928],"domain_scores_gemma":[0.9998236,0.00006630435,0.00006903266,0.000007940661,0.00001415508,0.00001901234],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"systematic_review","study_design_scores_codex":[0.0004955571,0.00008981742,0.900411,0.000208652,0.0001716454,0.01754767,0.0004774882,0.0003051901,0.03739965,0.0003916122,0.001124377,0.04137743],"study_design_scores_gemma":[0.00001827808,0.0002141953,0.9461891,0.00006611709,0.0001151337,0.04136257,0.000315724,0.0003342884,0.007172029,0.0002603746,0.003939284,0.00001289011],"study_design_candidate":"systematic_review","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"review","genre_scores_codex":[0.9962029,0.0007815654,0.0006350946,0.00004893113,0.000006434038,0.00001682719,0.000873655,0.00002115763,0.0014134],"genre_scores_gemma":[0.9979677,0.0004596998,0.0005061257,0.00005149909,0.000006888537,0.000005934146,0.0007449272,0.000006249312,0.0002509948],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.001351422,"threshold_uncertainty_score":0.004520953,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2171316646","doi":"10.1007/s10545-009-9007-8","title":"Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long‐term pulmonary function in patients treated with recombinant human <i>N</i>‐acetylgalactosamine 4‐sulfatase","year":2010,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":92,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"","funders":"National Center for Research Resources; National Institutes of Health; Townsville Hospital and Health Service; Universidade Federal de Minas Gerais; Hospital for Sick Children; Mackay Memorial Hospital; Università di Catania; University of South Dakota; BioMarin Pharmaceutical","keywords":"Enzyme replacement therapy; Medicine; Pulmonary function testing; Vital capacity; Internal medicine; Surgery; Cardiology; Lung; Lung function; Diffusing capacity; Disease","authors":[{"name":"Paul Harmatz","is_ca":false},{"name":"Zi‐Fan Yu","is_ca":false},{"name":"Roberto Giugliani","is_ca":false},{"name":"Ida Vanessa Döederlein Schwartz","is_ca":false},{"name":"Nathalie Guffon","is_ca":false},{"name":"Elisa Leão Teles","is_ca":false},{"name":"Clara Sá-Miranda","is_ca":false},{"name":"J. E. Wraith","is_ca":false},{"name":"Michael Beck","is_ca":false},{"name":"Laila Arash","is_ca":false},{"name":"Maurizio Scarpa","is_ca":false},{"name":"David Ketteridge","is_ca":false},{"name":"John J. Hopwood","is_ca":false},{"name":"Barbara Plecko","is_ca":false},{"name":"Robert D. Steiner","is_ca":false},{"name":"Chester B. Whitley","is_ca":false},{"name":"Paige Kaplan","is_ca":false},{"name":"Stuart J. Swiedler","is_ca":false},{"name":"Karen Hardy","is_ca":false},{"name":"Kenneth I. Berger","is_ca":false},{"name":"Celeste Decker","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.02920066337865303,"gpt":0.3170891274284811,"spread":0.2878884640498281,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001740136,0.0004178468,0.00102795,0.0001821831,0.0001960776,0.0003490213,0.0002163932,0.0004460753,0.0003699268],"category_scores_gemma":[0.001292933,0.0001479486,0.0005845451,0.0001775219,0.0002658374,0.0003089466,0.0001545582,0.000443947,0.00008900603],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000286894,"about_ca_system_score_gemma":0.0002835493,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003544406,"about_ca_topic_score_gemma":0.0005721486,"domain_scores_codex":[0.9994723,0.0003016182,0.00005396208,0.0000521841,0.00006698949,0.00005294415],"domain_scores_gemma":[0.9992093,0.0002550638,0.0002247978,0.00004070914,0.00005793389,0.0002122785],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.1998951,0.008296832,0.4413069,0.001023988,0.001875017,0.001307604,0.001037205,0.001956043,0.110925,0.0001498449,0.0009922896,0.2312342],"study_design_scores_gemma":[0.0095035,0.3315358,0.6459703,0.00006794546,0.0007746975,0.00152503,0.0002164498,0.001185689,0.006955332,0.00005577497,0.002176679,0.00003284751],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997588,0.00196893,0.00009253743,0.00004208909,0.000006228731,0.00003806961,0.00005618752,0.000005196691,0.0002028077],"genre_scores_gemma":[0.998979,0.0004748474,0.0001490926,0.0000682148,0.00001915719,0.00004437916,0.0001502413,9.506865e-7,0.0001140331],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001740136,"threshold_uncertainty_score":0.009202838,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2050443223","doi":"10.1007/s10545-007-0549-3","title":"Growth and body composition in children with classical phenylketonuria: Results in 34 patients and review of the literature","year":2007,"lang":"en","type":"review","venue":"Journal of Inherited Metabolic Disease","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":90,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"University of British Columbia","funders":"Oesterreichische Nationalbank","keywords":"Medicine; Phenylalanine; Internal medicine; Pediatrics; Endocrinology; Population; Reference Daily Intake; Fat mass; Composition (language); Body weight; Animal science; Physiology; Amino acid; Biology; Biochemistry","authors":[{"name":"Martina Huemer","is_ca":false},{"name":"Christian Huemer","is_ca":false},{"name":"Dorothea Möslinger","is_ca":false},{"name":"D. Huter","is_ca":false},{"name":"Sylvia Stöckler‐Ipsiroglu","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.007495021826745813,"gpt":0.2676825086612109,"spread":0.2601874868344651,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004804422,0.0008548668,0.002109526,0.003687296,0.0001819491,0.0006262927,0.0009555572,0.0006258198,0.001760422],"category_scores_gemma":[0.0009060683,0.0002648116,0.0004537072,0.004046717,0.0003405301,0.0008415306,0.0003656271,0.0004389202,0.001112926],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003019368,"about_ca_system_score_gemma":0.0004775964,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001215147,"about_ca_topic_score_gemma":0.001532645,"domain_scores_codex":[0.9996471,0.00004500115,0.0001204392,0.00006715377,0.0001005659,0.00001958819],"domain_scores_gemma":[0.9995406,0.0002343817,0.00009934156,0.00001332455,0.0000812929,0.00003110638],"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":[0.0002365857,0.0000794247,0.007545238,0.01959631,0.0003235514,0.003814373,0.00017729,0.0003274512,0.0008592686,0.0001745802,0.008618197,0.9582477],"study_design_scores_gemma":[0.0002298568,0.001277687,0.1732598,0.02765088,0.003695092,0.2145375,0.001464505,0.0007963797,0.002967636,0.001655036,0.5722256,0.000240104],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00196277,0.997362,0.0001132569,0.00006871385,0.00004674973,0.000004406819,0.00004588356,0.000008541466,0.0003877548],"genre_scores_gemma":[0.007720246,0.9915155,0.0002668756,0.00007291396,0.00009866895,0.000008968488,0.0001020217,0.000002359323,0.0002123803],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.003687296,"threshold_uncertainty_score":0.005889177,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W3022027290","doi":"10.1002/jimd.12247","title":"<scp>AADC</scp> deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients","year":2020,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":88,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"National Institute of Neurological Disorders and Stroke; European Regional Development Fund; Rosetrees Trust; Instituto de Salud Carlos III; National Institute for Health and Care Research","keywords":"Pediatrics; Medicine; Cohort; Irritability; Hypotonia; Mood; Dyskinesia; Retrospective cohort study; Cohort study; Psychiatry; Disease; Internal medicine; Parkinson's disease; Anxiety","authors":[{"name":"Toni S. Pearson","is_ca":false},{"name":"Laura Gilbert","is_ca":false},{"name":"Thomas Opladen","is_ca":false},{"name":"Ángeles García‐Cazorla","is_ca":false},{"name":"Mario Mastrangelo","is_ca":false},{"name":"Vincenzo Leuzzi","is_ca":false},{"name":"S K Tay","is_ca":false},{"name":"Jolanta Sykut‐Cegielska","is_ca":false},{"name":"Roser Pons","is_ca":false},{"name":"Saadet Mercimek‐Andrews","is_ca":true},{"name":"Mitsuhiro Kato","is_ca":false},{"name":"Thomas Lücke","is_ca":false},{"name":"Mari Oppebøen","is_ca":false},{"name":"Manju A. Kurian","is_ca":false},{"name":"Dora Steel","is_ca":false},{"name":"Filippo Manti","is_ca":false},{"name":"Kathleen D. Meeks","is_ca":false},{"name":"Kathrin Jeltsch","is_ca":false},{"name":"Lisa Flint","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.009812286104074013,"gpt":0.2553545465311618,"spread":0.2455422604270878,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003283294,0.0005501769,0.0004421445,0.0007953043,0.0008242665,0.0007108187,0.0002646498,0.0003786868,0.0008391704],"category_scores_gemma":[0.001297097,0.0003184914,0.0003733168,0.000829943,0.000382425,0.0005023092,0.0007308132,0.0004837782,0.0003196562],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003180196,"about_ca_system_score_gemma":0.0002917406,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006826298,"about_ca_topic_score_gemma":0.004324238,"domain_scores_codex":[0.9997249,0.00003786249,0.00003329653,0.00008885581,0.00004679453,0.00006830793],"domain_scores_gemma":[0.9993502,0.00007489413,0.000246622,0.00004905844,0.00008277637,0.0001964452],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00006855011,0.0000352444,0.9969943,0.000004056262,0.00001533763,0.001003175,0.0003307732,0.0000231621,0.0002873604,0.000007943314,0.00006675384,0.001163258],"study_design_scores_gemma":[0.000008128427,0.0002593954,0.9936784,0.000007106365,0.00001890725,0.005026116,0.0006338104,0.00006216003,0.00007423415,0.00001505696,0.0002096261,0.000006974906],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9996074,0.00006983829,0.0000252238,0.000009282778,0.000001744169,0.000005034417,0.0001205156,0.000001897509,0.000159095],"genre_scores_gemma":[0.9992994,0.0001255727,0.00005820262,0.0000178269,0.000005022236,0.00001212863,0.000383605,0.000002912527,0.00009532161],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006826298,"threshold_uncertainty_score":0.01357317,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2099860164","doi":"10.1007/s10545-015-9894-9","title":"Succinate‐CoA ligase deficiency due to mutations in <i>SUCLA2</i> and <i>SUCLG1</i>: phenotype and genotype correlations in 71 patients","year":2015,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":88,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Montreal Children's Hospital","funders":"Wellcome Trust","keywords":"Genotype; Phenotype; Human genetics; Genetics; DNA ligase; Medicine; Biology; Internal medicine; Gene","authors":[{"name":"Rosalba Carrozzo","is_ca":false},{"name":"Daniela Verrigni","is_ca":false},{"name":"Magnhild Rasmussen","is_ca":false},{"name":"I.F.M. de Coo","is_ca":false},{"name":"Hernán Amartino","is_ca":false},{"name":"Marzia Bianchi","is_ca":false},{"name":"Daniela Buhaş","is_ca":true},{"name":"Samir Mesli","is_ca":false},{"name":"K Naess","is_ca":false},{"name":"Alfred Peter Born","is_ca":false},{"name":"Berit Woldseth","is_ca":false},{"name":"Paolo Prontera","is_ca":false},{"name":"Mustafa Batbayli","is_ca":false},{"name":"Kirstine Ravn","is_ca":false},{"name":"Fróði Joensen","is_ca":false},{"name":"Duccio Maria Cordelli","is_ca":false},{"name":"Filippo M. Santorelli","is_ca":false},{"name":"M. Tulinius","is_ca":false},{"name":"Niklas Darín","is_ca":false},{"name":"Morten Dunø","is_ca":false},{"name":"P. Jouvencel","is_ca":false},{"name":"Alberto Burlina","is_ca":false},{"name":"Gabriela Stangoni","is_ca":false},{"name":"Enrico Bertini","is_ca":false},{"name":"Isabelle Redonnet‐Vernhet","is_ca":false},{"name":"Flemming Wibrand","is_ca":false},{"name":"Carlo Dionisi‐Vici","is_ca":false},{"name":"Johanna Uusimaa","is_ca":false},{"name":"Päivi Vieira","is_ca":false},{"name":"A. Nascimento Osorio","is_ca":false},{"name":"Robert McFarland","is_ca":false},{"name":"Robert W. Taylor","is_ca":false},{"name":"Elisabeth Holme","is_ca":false},{"name":"Elsebet Østergaard","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.009321215586973108,"gpt":0.2384113329080808,"spread":0.2290901173211077,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001711973,0.001144848,0.0004782521,0.0007521746,0.0007075904,0.0005628003,0.0003376165,0.0006695823,0.001432401],"category_scores_gemma":[0.001143374,0.0005790637,0.0004444337,0.0006803325,0.000561062,0.0003487179,0.0004135628,0.0003827479,0.000446848],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003823664,"about_ca_system_score_gemma":0.0002307209,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001165622,"about_ca_topic_score_gemma":0.0008596003,"domain_scores_codex":[0.9997479,0.00002505586,0.00004513231,0.00008368961,0.00003793359,0.0000601948],"domain_scores_gemma":[0.9994121,0.0001433363,0.0001874655,0.00003370373,0.00004330453,0.0001802089],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009251263,0.0001899398,0.8127278,0.0001524212,0.000190575,0.1436268,0.00155238,0.0005823305,0.02206213,0.0001769717,0.0008579986,0.01695558],"study_design_scores_gemma":[0.0001344862,0.001107719,0.6482599,0.00003470096,0.0001607449,0.3435967,0.000419333,0.0004786274,0.003499581,0.0001389601,0.002107181,0.00006202615],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989935,0.0002519262,0.0001808239,0.00002392435,0.000004250869,0.00001208131,0.00008769679,0.0000163608,0.0004294134],"genre_scores_gemma":[0.9990531,0.0001630244,0.0002739432,0.00004805693,0.00001488768,0.00001148677,0.0002325492,0.000008748945,0.0001942943],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001432401,"threshold_uncertainty_score":0.004791796,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W1970878214","doi":"10.1007/s10545-011-9294-8","title":"Structural basis of fumarate hydratase deficiency","year":2011,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Renal and related cancers","field":"Biochemistry, Genetics and Molecular Biology","cited_by":87,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"","funders":"Karolinska Institutet; Stiftelsen för Strategisk Forskning; Canadian Institutes of Health Research; National Institute for Health and Care Research; Genome Canada; Wellcome Trust; GlaxoSmithKline","keywords":"Fumarase; Dimethyl fumarate; Enzyme; Mitochondrion; Cytosol; Fumarate reductase; Biochemistry; Biology; Chemistry; Succinate dehydrogenase; Immunology","authors":[{"name":"S. Picaud","is_ca":false},{"name":"K.L. Kavanagh","is_ca":false},{"name":"Wyatt W. Yue","is_ca":false},{"name":"Wen‐Hwa Lee","is_ca":false},{"name":"Susanne Müller","is_ca":false},{"name":"O. Gileadi","is_ca":false},{"name":"James C. Sacchettini","is_ca":false},{"name":"Udo Oppermann","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01622467171311522,"gpt":0.2339096905391641,"spread":0.2176850188260489,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001066724,0.000491366,0.0003180074,0.0005780697,0.0003444182,0.000383136,0.000634543,0.0008063141,0.002530594],"category_scores_gemma":[0.0004564658,0.0001718004,0.0002718527,0.0003169837,0.0005161618,0.0002098929,0.0004656907,0.0005297892,0.0008257519],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004474133,"about_ca_system_score_gemma":0.000356253,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001559793,"about_ca_topic_score_gemma":0.000739089,"domain_scores_codex":[0.9998754,0.00001741328,0.0000132639,0.00003228836,0.000037851,0.00002366289],"domain_scores_gemma":[0.9998447,0.0000295042,0.00003875407,0.00001177843,0.00002624711,0.00004904916],"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":[0.001251578,0.0002538956,0.02128207,0.0005490743,0.0001554167,0.04554282,0.0003263138,0.003788804,0.870037,0.01818472,0.006925593,0.03170285],"study_design_scores_gemma":[0.0005107038,0.001164696,0.08956135,0.0003702733,0.0006611854,0.2029398,0.0006068067,0.01492213,0.5469742,0.02477548,0.1173824,0.0001311108],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.965416,0.008192198,0.00623682,0.002973337,0.0003157375,0.00006502638,0.001717134,0.0003764269,0.01470737],"genre_scores_gemma":[0.9947745,0.001478573,0.001278052,0.0002673966,0.00005400902,0.00001080471,0.0007315836,0.00003506155,0.001369992],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002530594,"threshold_uncertainty_score":0.008465707,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2007961606","doi":"10.1007/s10545-011-9343-3","title":"A complete deficiency of Hyaluronoglucosaminidase 1 (<i>HYAL1</i>) presenting as familial juvenile idiopathic arthritis","year":2011,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":83,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"University of Manitoba","funders":"","keywords":"Medicine; Synovitis; Arthritis; Genetics; Palpebral fissure; Arthropathy; Genetic heterogeneity; Pathology; Phenotype; Internal medicine; Biology; Surgery; Gene; Osteoarthritis","authors":[{"name":"Lisa F. Imundo","is_ca":false},{"name":"Charles A. LeDuc","is_ca":false},{"name":"Saurav Guha","is_ca":false},{"name":"Marc R. Brown","is_ca":false},{"name":"Giorgio Perino","is_ca":false},{"name":"Lara Gushulak","is_ca":true},{"name":"Barbara L. Triggs‐Raine","is_ca":true},{"name":"Wendy K. Chung","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.0412543326664583,"gpt":0.2864021281450417,"spread":0.2451477954785834,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002625027,0.002459477,0.0008065711,0.0009487799,0.001612308,0.0005546805,0.0005559442,0.0008151185,0.002605182],"category_scores_gemma":[0.001345658,0.0006121236,0.0004545362,0.0008363433,0.001187018,0.0003969699,0.0007997398,0.0006887406,0.0004401166],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003806277,"about_ca_system_score_gemma":0.0004005643,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002949101,"about_ca_topic_score_gemma":0.003643661,"domain_scores_codex":[0.9995847,0.00006473837,0.00003649839,0.000147678,0.00007880932,0.00008760337],"domain_scores_gemma":[0.999246,0.0002514189,0.0002241698,0.00003547244,0.00004656369,0.0001963969],"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":[0.0002736479,0.0002066028,0.1353145,0.000205766,0.0001631186,0.8098915,0.002632786,0.0003741074,0.03488587,0.0005805225,0.001116903,0.0143547],"study_design_scores_gemma":[0.00004002641,0.0003603267,0.08538575,0.00002865408,0.0001238417,0.907297,0.0003672582,0.00027433,0.003691472,0.0002272476,0.002174598,0.00002935038],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9958451,0.000745093,0.00118868,0.0001568912,0.00002038807,0.00002977378,0.0001328895,0.00006070567,0.001820502],"genre_scores_gemma":[0.9979715,0.0003232425,0.0007731002,0.0001126856,0.00003678624,0.00001161072,0.00009597707,0.00001804973,0.0006570684],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002949101,"threshold_uncertainty_score":0.008715153,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2788553416","doi":"10.1007/s10545-017-0128-1","title":"The role of the clinician in the multi‐omics era: are you ready?","year":2018,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":81,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"University of Ottawa; Alberta Children's Hospital; Children's Hospital of Eastern Ontario; University of Calgary; BC Children's Hospital; University of British Columbia","funders":"Universiteit van Amsterdam","keywords":"Omics; Precision medicine; Phenomics; Personalized medicine; Data science; Medicine; Genomics; Systems biology; Systems medicine; Bioinformatics; Computer science; Biology; Genome; Genetics; Pathology","authors":[{"name":"Clara D.M. van Karnebeek","is_ca":true},{"name":"Saskia B. Wortmann","is_ca":false},{"name":"Maja Tarailo‐Graovac","is_ca":true},{"name":"Mirjam Langeveld","is_ca":false},{"name":"Carlos R. Ferreira","is_ca":false},{"name":"Jiddeke M. van de Kamp","is_ca":false},{"name":"Carla E. M. Hollak","is_ca":false},{"name":"Wyeth W. Wasserman","is_ca":true},{"name":"Hans R. Waterham","is_ca":false},{"name":"Ron A. Wevers","is_ca":false},{"name":"Tobias B. Haack","is_ca":false},{"name":"Ronald J. A. Wanders","is_ca":false},{"name":"Kym M. Boycott","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01105863979864311,"gpt":0.271695542151433,"spread":0.2606369023527899,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.04085128,0.001937875,0.00306551,0.00263565,0.009078866,0.01798882,0.003801094,0.02846689,0.01577298],"category_scores_gemma":[0.1252189,0.001105331,0.001627802,0.00185264,0.01806772,0.04443933,0.01206733,0.04635741,0.01458104],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.004435302,"about_ca_system_score_gemma":0.01609832,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004193678,"about_ca_topic_score_gemma":0.005681725,"domain_scores_codex":[0.9655598,0.01721806,0.002730235,0.002928801,0.008922135,0.002640965],"domain_scores_gemma":[0.8813334,0.054621,0.004074387,0.004718544,0.02998315,0.02526961],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.000150067,0.0001292016,0.00179272,0.001174847,0.0000685139,0.001966582,0.003940562,0.00009566461,0.0005489573,0.01507926,0.8506479,0.1244057],"study_design_scores_gemma":[0.00009228572,0.0001600998,0.001014566,0.006223409,0.00006660855,0.005455703,0.01394822,0.0002752485,0.0002671076,0.05957281,0.912681,0.0002429125],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"commentary","genre_scores_codex":[0.0003633392,0.03286917,0.003413351,0.9302794,0.02929611,0.0000301231,0.00003858024,0.0001922661,0.003517692],"genre_scores_gemma":[0.01404822,0.06671091,0.01446836,0.8512776,0.04648525,0.0002004739,0.000127403,0.0003228222,0.006358932],"genre_candidate":"commentary","genre_consensus":"commentary","teacher_disagreement_score":0.04085128,"threshold_uncertainty_score":0.2160448,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2031988782","doi":"10.1007/s10545-013-9664-5","title":"Update on transcobalamin deficiency: clinical presentation, treatment and outcome","year":2013,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":81,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Children’s Health Research Institute; Western University; McGill University Health Centre; London Health Sciences Centre; Montreal Children's Hospital","funders":"","keywords":"Cobalamin; Megaloblastic anemia; Medicine; Methylmalonic acid; Pancytopenia; Pallor; Failure to thrive; Pediatrics; Gastroenterology; Anemia; Internal medicine; Homocysteine; Vitamin B12; Homocystinuria; Newborn screening; Immunology; Bone marrow; Biology","authors":[{"name":"Yannis Trakadis","is_ca":true},{"name":"Ahmed Alfares","is_ca":true},{"name":"Olaf A. Bodamer","is_ca":false},{"name":"Mustafa Büyükavcı","is_ca":false},{"name":"John Christodoulou","is_ca":false},{"name":"Philip Connor","is_ca":false},{"name":"Emma Glamuzina","is_ca":false},{"name":"F. Gonzalez–Fernandez","is_ca":false},{"name":"H. Bibi","is_ca":false},{"name":"Bernard Échenne","is_ca":false},{"name":"Irini Manoli","is_ca":false},{"name":"John J. Mitchell","is_ca":true},{"name":"Maria Nordwall","is_ca":false},{"name":"C. Prasad","is_ca":true},{"name":"Fernando Scaglia","is_ca":false},{"name":"Manuel Schiff","is_ca":false},{"name":"B. Schrewe","is_ca":true},{"name":"Guy Touati","is_ca":false},{"name":"Michel Tchan","is_ca":false},{"name":"Bruno Varet","is_ca":false},{"name":"Charles P. Venditti","is_ca":false},{"name":"Dimitrios Zafeiriou","is_ca":false},{"name":"C. Anthony Rupar","is_ca":true},{"name":"David S. Rosenblatt","is_ca":true},{"name":"David Watkins","is_ca":true},{"name":"Nancy Braverman","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.06353327151816138,"gpt":0.3988824329178166,"spread":0.3353491613996552,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006735291,0.0007505903,0.001437221,0.002493283,0.0002158636,0.0008595347,0.0008387619,0.001518251,0.002151098],"category_scores_gemma":[0.003019239,0.0002407684,0.0006199323,0.001953435,0.0002537733,0.001336419,0.0004132127,0.001341861,0.001020953],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005263251,"about_ca_system_score_gemma":0.0004723303,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001288964,"about_ca_topic_score_gemma":0.002118311,"domain_scores_codex":[0.9995232,0.0001049223,0.0001711928,0.00004966047,0.0001096123,0.00004142171],"domain_scores_gemma":[0.9977938,0.001165445,0.0003626272,0.00006259092,0.0004725884,0.0001429243],"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":[0.0004293993,0.0001545095,0.009084127,0.004597815,0.0002927389,0.006395673,0.0001288233,0.0006365079,0.001369428,0.0004787348,0.09320945,0.8832228],"study_design_scores_gemma":[0.0001645714,0.0009020338,0.03262717,0.01008296,0.001805101,0.1374071,0.0003281692,0.001023958,0.001908242,0.001378803,0.8122596,0.0001123888],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.009838724,0.9735607,0.001509602,0.006106009,0.001740017,0.00003464967,0.0005557286,0.000107613,0.006546938],"genre_scores_gemma":[0.04772309,0.9323127,0.003592185,0.005455377,0.006545238,0.00006780331,0.001786358,0.00003925936,0.002477926],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.002493283,"threshold_uncertainty_score":0.007196128,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2020660412","doi":"10.1023/b:boli.0000031222.38328.59","title":"Glycine encephalopathy (nonketotic hyperglycinaemia): Review and update","year":2004,"lang":"en","type":"review","venue":"Journal of Inherited Metabolic Disease","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":80,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true},"ca_institutions":"University of British Columbia","funders":"","keywords":"Glycine; Encephalopathy; Hyperglycinemia; Medicine; Human genetics; Metabolic disease; Pediatrics; Bioinformatics; Intensive care medicine; Biology; Genetics; Internal medicine; Amino acid","authors":[{"name":"Derek A. Applegarth","is_ca":true},{"name":"Jennifer R. Toone","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.013622749654797,"gpt":0.2973980197320621,"spread":0.2837752700772652,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006062866,0.001175412,0.001973872,0.003355858,0.0003333369,0.001208862,0.00136759,0.001231055,0.005271873],"category_scores_gemma":[0.0009952628,0.0002996741,0.0004393637,0.004114212,0.0004538054,0.001961375,0.000601201,0.001268197,0.003145401],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005681412,"about_ca_system_score_gemma":0.001087807,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001346812,"about_ca_topic_score_gemma":0.002750999,"domain_scores_codex":[0.9998398,0.00002679886,0.00003861045,0.00003010899,0.00004614962,0.00001858],"domain_scores_gemma":[0.9993498,0.0002882028,0.0001183003,0.00001883393,0.0001461187,0.00007873619],"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":[0.0001254449,0.00007416722,0.0004231337,0.01374639,0.0001148692,0.001231394,0.00006307909,0.0002460093,0.0006660304,0.0007718141,0.06853374,0.9140038],"study_design_scores_gemma":[0.00004581162,0.0001392231,0.00227856,0.006032161,0.0003372399,0.01078355,0.000160796,0.00009934645,0.0002998301,0.0009455046,0.9788481,0.00002982065],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0001670577,0.9979566,0.0001002251,0.0003347993,0.0006604688,0.000004377107,0.00002192269,0.00001128105,0.0007432085],"genre_scores_gemma":[0.0007693362,0.9975306,0.0002146174,0.0002439613,0.0006121277,0.000006529707,0.0000478415,0.000001520111,0.0005734424],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.005271873,"threshold_uncertainty_score":0.01763618,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2087063771","doi":"10.1007/s10545-011-9418-1","title":"Update and new concepts in vitamin responsive disorders of folate transport and metabolism","year":2011,"lang":"en","type":"review","venue":"Journal of Inherited Metabolic Disease","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":79,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"McGill University Health Centre","funders":"","keywords":"MTRR; Methylenetetrahydrofolate reductase; Methionine synthase; Megaloblastic anemia; Dihydrofolate reductase; Biology; Homocystinuria; Methionine; Homocysteine; Gene mutation; Biochemistry; Mutation; Vitamin B12; Gene; Allele; Amino acid","authors":[{"name":"David Watkins","is_ca":true},{"name":"David S. Rosenblatt","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.04666683300450224,"gpt":0.3605788934069272,"spread":0.313912060402425,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001623333,0.0009576109,0.001528105,0.002768944,0.000397816,0.002056762,0.001502316,0.002669848,0.011791],"category_scores_gemma":[0.004193145,0.0003026172,0.0008511912,0.00240085,0.0008291826,0.003546701,0.001189867,0.003324145,0.004735641],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009281523,"about_ca_system_score_gemma":0.001820927,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009525184,"about_ca_topic_score_gemma":0.002020661,"domain_scores_codex":[0.9993161,0.0001759194,0.0001313249,0.0001045141,0.0002061093,0.00006609114],"domain_scores_gemma":[0.9961292,0.001856461,0.0003048204,0.000149779,0.001054275,0.0005054902],"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":[0.0002254021,0.00007688583,0.0006983245,0.007775402,0.000133448,0.001095205,0.0001125985,0.0001491332,0.001145542,0.005190816,0.2391592,0.744238],"study_design_scores_gemma":[0.00002366049,0.00005547067,0.0004951807,0.00171012,0.000116109,0.002177802,0.00006700574,0.00005984971,0.0001475532,0.001690394,0.993444,0.00001286883],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0003529212,0.9739345,0.0008090343,0.009741141,0.01084938,0.00001622512,0.000124548,0.00009102184,0.004081129],"genre_scores_gemma":[0.002146172,0.9601169,0.001997682,0.007073808,0.02466983,0.00003821099,0.0003787702,0.00002397151,0.003554632],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.011791,"threshold_uncertainty_score":0.0394448,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2404919825","doi":"10.1007/s10545-016-9942-0","title":"Improving long term outcomes in urea cycle disorders‐report from the Urea Cycle Disorders Consortium","year":2016,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":78,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true},"ca_institutions":"","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Center for Research Resources","keywords":"Urea cycle; Argininosuccinate synthase; Citrullinemia; Ornithine transcarbamylase deficiency; Hyperammonemia; Argininosuccinate lyase; Ornithine transcarbamylase; Arginase; Internal medicine; Neurocognitive; Endocrinology; Medicine; Biology; Psychiatry; Biochemistry; Arginine","authors":[{"name":"Susan E. Waisbren","is_ca":false},{"name":"Andrea Gropman","is_ca":false},{"name":"Mark L. Batshaw","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.006649964118244591,"gpt":0.2495941058000769,"spread":0.2429441416818323,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.003857578,0.000462444,0.0008337009,0.001538326,0.0008530811,0.001483774,0.0007729086,0.0007213713,0.001278031],"category_scores_gemma":[0.008249765,0.00009862419,0.001015716,0.002627673,0.0002195149,0.0006022358,0.001945985,0.001013551,0.0003738286],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002154219,"about_ca_system_score_gemma":0.004314647,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.05155419,"about_ca_topic_score_gemma":0.05852313,"domain_scores_codex":[0.998202,0.0003419048,0.0002687015,0.0001656021,0.0006769935,0.0003448327],"domain_scores_gemma":[0.9919854,0.000541796,0.001937724,0.0002184763,0.003662807,0.00165376],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001270762,0.0003250308,0.7528526,0.001076778,0.001519389,0.0002592563,0.0002298177,0.0004596384,0.0001616719,0.0006252945,0.1042965,0.1369233],"study_design_scores_gemma":[0.0002159828,0.000309024,0.9721399,0.001730736,0.001060137,0.0003018857,0.0001840381,0.000250246,0.0002153136,0.0003020371,0.02323677,0.00005397352],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.5814715,0.1399151,0.002423473,0.02680312,0.003023606,0.001519406,0.2082936,0.0004732133,0.03607703],"genre_scores_gemma":[0.7394142,0.06567706,0.003295603,0.00534217,0.001753868,0.002815606,0.1760001,0.0000889431,0.00561229],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05155419,"threshold_uncertainty_score":0.1025082,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2737771147","doi":"10.1007/s10545-017-0066-y","title":"Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature","year":2017,"lang":"en","type":"review","venue":"Journal of Inherited Metabolic Disease","topic":"Glycosylation and Glycoproteins Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":73,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"Saint John Regional Hospital; Dalhousie University","funders":"Natural Sciences and Engineering Research Council of Canada","keywords":"Glycosylation; Phenotype; Heart disease; Clinical phenotype; Biology; Bioinformatics; Disease; Medicine; Internal medicine; Genetics; Gene","authors":[{"name":"Dorinda Marques‐da‐Silva","is_ca":false},{"name":"Rita Francisco","is_ca":false},{"name":"Duncan Webster","is_ca":true},{"name":"Vanessa dos Reis Ferreira","is_ca":false},{"name":"Jaak Jaeken","is_ca":false},{"name":"Thomas Pulinilkunnil","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.03014821646450631,"gpt":0.351896858702062,"spread":0.3217486422375557,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008473143,0.0006867262,0.001607194,0.006720633,0.0003114473,0.0009102612,0.0007123415,0.0007254131,0.003940126],"category_scores_gemma":[0.002895152,0.0002773474,0.00117886,0.007346581,0.000325095,0.001077779,0.0005519694,0.0005443398,0.0004519793],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005906541,"about_ca_system_score_gemma":0.00286085,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002305709,"about_ca_topic_score_gemma":0.004879255,"domain_scores_codex":[0.9994837,0.00007791338,0.0002231861,0.0000732726,0.0001169992,0.00002489459],"domain_scores_gemma":[0.9977297,0.001421127,0.0005146062,0.0000328035,0.0002392847,0.00006245382],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"systematic_review","study_design_scores_codex":[0.0002313314,0.00004708311,0.00425917,0.3524173,0.001413206,0.001796492,0.0003779882,0.0002743024,0.000927684,0.001232639,0.01980791,0.6172149],"study_design_scores_gemma":[0.000109801,0.0003496359,0.02856913,0.363406,0.01425772,0.02877369,0.0009914127,0.0001862213,0.0008172033,0.001763672,0.5606713,0.0001042861],"study_design_candidate":"systematic_review","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0004573507,0.9990318,0.00003252425,0.0001015211,0.00004371481,0.000007648114,0.0001154831,0.000002545638,0.0002074102],"genre_scores_gemma":[0.001816678,0.9977774,0.00009742827,0.00009968859,0.00004919798,0.00000842086,0.00008780607,8.441554e-7,0.00006252159],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.006720633,"threshold_uncertainty_score":0.01318109,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W1546107817","doi":"10.1023/a:1024449603891","title":"Lipoprotein disorders and cardiovascular risk","year":2003,"lang":"en","type":"review","venue":"Journal of Inherited Metabolic Disease","topic":"Lipoproteins and Cardiovascular Health","field":"Medicine","cited_by":73,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"McGill University; Royal Victoria Hospital","funders":"","keywords":"Medicine; Asymptomatic; Disease; Coronary artery disease; Internal medicine; Lipoprotein; Vascular disease; Very low-density lipoprotein; Etiology; Cardiology; Cholesterol; Endocrinology","authors":[{"name":"Jacques Genest","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.02187244829319028,"gpt":0.292538090608634,"spread":0.2706656423154437,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004444524,0.0008413358,0.001522783,0.001487238,0.0003329891,0.0007554409,0.0006128279,0.001413479,0.004514301],"category_scores_gemma":[0.0007100811,0.0001954388,0.0003173215,0.001742987,0.0004025387,0.0007215367,0.000536074,0.001211131,0.003054413],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005177803,"about_ca_system_score_gemma":0.001018126,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001571521,"about_ca_topic_score_gemma":0.002353888,"domain_scores_codex":[0.9997844,0.00004350996,0.0000276438,0.0000296784,0.00009184708,0.0000229155],"domain_scores_gemma":[0.9998319,0.0000633664,0.00002225796,0.000006538819,0.00005255815,0.0000233289],"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":[0.00008360772,0.0000834851,0.0005680867,0.007325117,0.00008768476,0.0004195735,0.00008354962,0.0001902808,0.0006535889,0.002340922,0.04080855,0.9473556],"study_design_scores_gemma":[0.00004346595,0.0001091025,0.003787592,0.005076763,0.0001090091,0.003562254,0.0001199035,0.00007566137,0.000226271,0.002750669,0.9841189,0.00002044665],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0001207905,0.9978878,0.00005053418,0.0002718981,0.0002470679,0.000003424644,0.000006464064,0.000004928023,0.001407142],"genre_scores_gemma":[0.0008709666,0.997675,0.0001022104,0.0001872,0.0002318882,0.000005858004,0.00001713592,6.716538e-7,0.0009091147],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.004514301,"threshold_uncertainty_score":0.01510185,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W1988015798","doi":"10.1007/s10545-007-0607-x","title":"Quebec neonatal mass urinary screening programme: From micromolecules to macromolecules","year":2007,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":70,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true},"ca_institutions":"Université de Sherbrooke","funders":"","keywords":"Medicine; Urinary system; Urine; Globotriaosylceramide; Newborn screening; Cystinosis; Pediatrics; Internal medicine; Fabry disease; Chemistry; Disease; Biochemistry","authors":[{"name":"Christiane Auray‐Blais","is_ca":true},{"name":"Denis Cyr","is_ca":true},{"name":"Régen Drouin","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.02065394211274928,"gpt":0.3022541040851425,"spread":0.2816001619723932,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008400821,0.0006465825,0.0002538447,0.001196957,0.00110788,0.0006129073,0.001004569,0.0004391481,0.005826508],"category_scores_gemma":[0.0008520018,0.0001760277,0.0002134563,0.001077076,0.0003315519,0.0002009796,0.0006100246,0.0003981491,0.0007944677],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.01386268,"about_ca_system_score_gemma":0.01226503,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9125177,"about_ca_topic_score_gemma":0.8992199,"domain_scores_codex":[0.999441,0.0001081785,0.00001731505,0.0001003678,0.0002218418,0.0001113258],"domain_scores_gemma":[0.9991121,0.00005757093,0.00006826397,0.0000325716,0.0004986544,0.000230827],"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":[0.0009575072,0.0005517227,0.2768505,0.0008224503,0.0001062651,0.004836197,0.001977786,0.00247768,0.03622173,0.004027963,0.114498,0.5566722],"study_design_scores_gemma":[0.000140064,0.0008624525,0.730747,0.0004794584,0.00008266702,0.002228542,0.0009163496,0.004370993,0.0203541,0.0003165877,0.2394156,0.00008614951],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7645516,0.0381783,0.02851613,0.01657517,0.0005481114,0.003425255,0.0283022,0.003372827,0.1165303],"genre_scores_gemma":[0.8531488,0.01202119,0.03277664,0.005035961,0.0001320761,0.001082345,0.00818697,0.0001752318,0.08744075],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08748233,"threshold_uncertainty_score":0.175995,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W1974397205","doi":"10.1007/s10545-008-0984-9","title":"Garrod's Croonian Lectures (1908) and the charter ‘Inborn Errors of Metabolism’: Albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008","year":2008,"lang":"en","type":"review","venue":"Journal of Inherited Metabolic Disease","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":69,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"McGill University; McGill University Health Centre; Montreal Children's Hospital","funders":"","keywords":"Cystinuria; Genetics; Mendelian inheritance; Allele; Albinism; Alkaptonuria; Biology; Medicine; Gene; Biochemistry","authors":[{"name":"Charles R. Scriver","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.0152874052566509,"gpt":0.2784960207535146,"spread":0.2632086154968637,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005430939,0.001198402,0.0007766848,0.002216955,0.0005999866,0.001233997,0.0006362264,0.001622169,0.004890627],"category_scores_gemma":[0.001360553,0.0003091611,0.0003396074,0.001609984,0.001194439,0.001945389,0.0008877013,0.003311053,0.003495577],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0014175,"about_ca_system_score_gemma":0.001389777,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002023099,"about_ca_topic_score_gemma":0.002790257,"domain_scores_codex":[0.9996513,0.00006572009,0.00003358608,0.00006624818,0.0001374219,0.00004569313],"domain_scores_gemma":[0.9996483,0.0001203711,0.00004269413,0.00001164522,0.000105693,0.00007124548],"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":[0.0001369968,0.00004896717,0.000209652,0.002763538,0.0000213905,0.0004468347,0.0001971562,0.0001180368,0.0007310256,0.01140232,0.3508626,0.6330615],"study_design_scores_gemma":[0.000006404133,0.00001463652,0.0003415814,0.0006544762,0.000006203891,0.001072634,0.00002433819,0.000009451156,0.0001000282,0.001081259,0.9966827,0.000006225173],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0001294245,0.9876623,0.0001796411,0.002199039,0.005385111,0.000005144903,0.00001094602,0.00001350527,0.004414869],"genre_scores_gemma":[0.002139696,0.977686,0.0003313824,0.002958817,0.004471579,0.00001204317,0.00004313676,0.000008639175,0.01234866],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.004890627,"threshold_uncertainty_score":0.01636076,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2112123388","doi":"10.1007/s10545-010-9113-7","title":"Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I","year":2010,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":69,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Medicine; Mucopolysaccharidosis; Age of onset; Pediatrics; Carpal tunnel syndrome; Surgery; Population; Disease; Natural history; Dermatology; Internal medicine","authors":[{"name":"Janet A. Thomas","is_ca":false},{"name":"Michael Beck","is_ca":false},{"name":"Joe T.R. Clarke","is_ca":true},{"name":"Gerald F. Cox","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01300596307967271,"gpt":0.2823092261220765,"spread":0.2693032630424038,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001199724,0.0002907554,0.0002582402,0.000441287,0.0003245977,0.0002275429,0.00007489284,0.0001973016,0.001558903],"category_scores_gemma":[0.001094613,0.0001211685,0.0001453595,0.000328631,0.0003051004,0.0002868634,0.0002273588,0.0002889638,0.0001999395],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003265958,"about_ca_system_score_gemma":0.000567906,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005781461,"about_ca_topic_score_gemma":0.007031593,"domain_scores_codex":[0.9998435,0.00001935645,0.00002034609,0.00004058975,0.00002542041,0.0000508012],"domain_scores_gemma":[0.9993715,0.000141485,0.0002724886,0.00002688858,0.00005589314,0.0001318547],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001366987,0.00002239234,0.9679515,0.0000621678,0.00002289424,0.01817516,0.0003986717,0.0002318576,0.003737223,0.0001886613,0.0008093411,0.008263542],"study_design_scores_gemma":[0.000008647986,0.0001560616,0.930526,0.00004560178,0.00003130945,0.06549648,0.0004147937,0.0001435018,0.001378252,0.00008289333,0.001705891,0.00001063754],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966463,0.0007448347,0.0003295474,0.00006024459,0.00000891981,0.00001084639,0.0003941834,0.00003579423,0.001769206],"genre_scores_gemma":[0.9988733,0.0004517493,0.0001878576,0.00003383979,0.000008056535,0.000002962268,0.0002653079,0.000005017906,0.0001718268],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005781461,"threshold_uncertainty_score":0.01149565,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W3004722903","doi":"10.1002/jimd.12196","title":"Safety of drug use in patients with a primary mitochondrial disease: An international Delphi‐based consensus","year":2020,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":68,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"","funders":"National Heart, Lung, and Blood Institute; Instituto de Salud Carlos III; Biotechnology and Biological Sciences Research Council; Medical Research Council; Asociación de Enfermos de Patologías Mitocondriales; Medical Research Council Canada; Prinses Beatrix Spierfonds; Wellcome Trust; Newcastle upon Tyne Hospitals NHS Foundation Trust; National Institute for Health and Care Research; Fondazione Telethon; European Commission; Newcastle University; Action Medical Research; Lily Foundation; Muscular Dystrophy UK; National Institute of Food and Agriculture; Directorate for Biological Sciences; National Institutes of Health; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; Virginia Polytechnic Institute and State University; European Molecular Biology Organization","keywords":"Medicine; Mitochondrial disease; Drug; Human genetics; MEDLINE; Delphi method; Intensive care medicine; Bioinformatics; Pharmacology; Mitochondrial DNA; Biology; Computer science; Genetics; Biochemistry","authors":[{"name":"Maaike C. de Vries","is_ca":false},{"name":"David A. Brown","is_ca":false},{"name":"Mitchell E. Allen","is_ca":false},{"name":"Laurence A. Bindoff","is_ca":false},{"name":"Gráinne S. Gorman","is_ca":false},{"name":"Amel Karaa","is_ca":false},{"name":"Nandaki Keshavan","is_ca":false},{"name":"Costanza Lamperti","is_ca":false},{"name":"Robert McFarland","is_ca":false},{"name":"Yi Shiau Ng","is_ca":false},{"name":"Mar O’Callaghan","is_ca":false},{"name":"Robert D. S. Pitceathly","is_ca":false},{"name":"Shamima Rahman","is_ca":false},{"name":"Frans G. M. Rüssel","is_ca":false},{"name":"Kristin N. Varhaug","is_ca":false},{"name":"Tom J.J. Schirris","is_ca":false},{"name":"Michelangelo Mancuso","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01342006095006919,"gpt":0.2377305771434704,"spread":0.2243105161934012,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.182073,0.0009318467,0.001252813,0.003829424,0.003997249,0.004033855,0.002648622,0.004083452,0.00287541],"category_scores_gemma":[0.1254757,0.0009434346,0.001963935,0.002069898,0.005875852,0.004908518,0.01365016,0.005701669,0.0006457274],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.006564144,"about_ca_system_score_gemma":0.02671879,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002304055,"about_ca_topic_score_gemma":0.002130875,"domain_scores_codex":[0.7558512,0.204014,0.01652476,0.004281929,0.0134205,0.005907554],"domain_scores_gemma":[0.8423448,0.1105518,0.005664856,0.004656714,0.03035085,0.006430928],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"qualitative","study_design_gemma":"qualitative","study_design_scores_codex":[0.000978825,0.0008568818,0.01838896,0.009696364,0.000673347,0.004096037,0.5479614,0.005461096,0.01077341,0.03460569,0.03777534,0.3287327],"study_design_scores_gemma":[0.0005013322,0.00208346,0.02289674,0.02286889,0.0004793042,0.00558042,0.5677508,0.01641445,0.007435038,0.07215031,0.2808455,0.0009938548],"study_design_candidate":"qualitative","study_design_consensus":"qualitative","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.5456242,0.01188083,0.1816563,0.1486125,0.004394372,0.02762965,0.0005744004,0.0002864191,0.07934123],"genre_scores_gemma":[0.8410472,0.006976123,0.1267284,0.01247882,0.0004670149,0.007722852,0.0004048333,0.00008536327,0.00408944],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.182073,"threshold_uncertainty_score":0.9629058,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2526373179","doi":"10.1007/s10545-016-9972-7","title":"Consensus recommendations for the diagnosis, treatment and follow‐up of inherited methylation disorders","year":2016,"lang":"en","type":"review","venue":"Journal of Inherited Metabolic Disease","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":67,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"BC Children's Hospital","funders":"","keywords":"Methionine Adenosyltransferase; Transmethylation; Methylation; Homocysteine; Methionine; Hyperhomocysteinemia; Methionine synthase; Homocystinuria; Methyltransferase; Methylenetetrahydrofolate reductase; Biology; Medicine; Internal medicine; Biochemistry; Allele; Gene; Amino acid","authors":[{"name":"Ivo Barić","is_ca":false},{"name":"Christian Staufner","is_ca":false},{"name":"Persephone Augoustides‐Savvopoulou","is_ca":false},{"name":"Yin‐Hsiu Chien","is_ca":false},{"name":"Dries Dobbelaere","is_ca":false},{"name":"Sarah C. Grünert","is_ca":false},{"name":"Thomas Opladen","is_ca":false},{"name":"Danijela Petković Ramadža","is_ca":false},{"name":"Bojana Rakić","is_ca":true},{"name":"Anna Wedell","is_ca":false},{"name":"Henk J. Blom","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.1169092398118877,"gpt":0.4195646968588861,"spread":0.3026554570469984,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.03517328,0.002064192,0.002883494,0.006285969,0.001912239,0.003128235,0.01125097,0.01430533,0.01434734],"category_scores_gemma":[0.07175185,0.001155374,0.008729166,0.003243522,0.001694269,0.003565706,0.005451073,0.009841392,0.01135267],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.004731909,"about_ca_system_score_gemma":0.01969747,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01047162,"about_ca_topic_score_gemma":0.008833855,"domain_scores_codex":[0.9720738,0.0115167,0.006614234,0.001358133,0.006786685,0.001650566],"domain_scores_gemma":[0.9133734,0.02148731,0.005318329,0.002598585,0.05211101,0.005111325],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0002261247,0.0002900204,0.001543265,0.01355666,0.0003579838,0.0009402399,0.0007619162,0.001478202,0.001250727,0.009496685,0.5445144,0.4255838],"study_design_scores_gemma":[0.0001990983,0.0001533149,0.002630722,0.04696244,0.0006714662,0.001159772,0.0008314592,0.000685822,0.000644611,0.01409957,0.9318188,0.0001429855],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"review","genre_scores_codex":[0.003436883,0.3231809,0.086929,0.4459937,0.04838721,0.005257766,0.006497218,0.002572646,0.07774465],"genre_scores_gemma":[0.03013955,0.3021825,0.4389279,0.132948,0.01224386,0.01234558,0.02672753,0.0009386776,0.04354645],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.03517328,"threshold_uncertainty_score":0.1860163,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2964200538","doi":"10.1002/jimd.12156","title":"Clinical presentation and proteomic signature of patients with <i>TANGO2</i> mutations","year":2019,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":62,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"European Research Council; Generalitat de Catalunya; Instituto de Salud Carlos III; National Institute for Health and Care Research; Wellcome Trust; French Muscular Dystrophy Association; Medical Research Council Canada; Newton Fund; Medical Research Council; University of Kentucky","keywords":"Biology; Respiratory chain; Lactic acidosis; Mitochondrial respiratory chain; Cytochrome c oxidase; Compound heterozygosity; Phenotype; Internal medicine; Endocrinology; Mitochondrion; Molecular biology; Genetics; Gene; Medicine","authors":[{"name":"Nadja Mingirulli","is_ca":false},{"name":"Angela Pyle","is_ca":false},{"name":"Denisa Hathazi","is_ca":false},{"name":"Charlotte L. Alston","is_ca":false},{"name":"Nicolai Kohlschmidt","is_ca":false},{"name":"Gina O’Grady","is_ca":false},{"name":"Leigh B. Waddell","is_ca":false},{"name":"Frances J. Evesson","is_ca":false},{"name":"Sandra B. T. Cooper","is_ca":false},{"name":"Christian Turner","is_ca":false},{"name":"Jennifer Duff","is_ca":false},{"name":"Ana Töpf","is_ca":false},{"name":"Dèlia Yubero","is_ca":false},{"name":"Cristina Jou","is_ca":false},{"name":"A. Nascimento","is_ca":false},{"name":"C. Ortez","is_ca":false},{"name":"Àngels García‐Cazorla","is_ca":false},{"name":"Claudia Groß","is_ca":false},{"name":"María del Mar O’Callaghan","is_ca":false},{"name":"Saikat Santra","is_ca":false},{"name":"M A Preece","is_ca":false},{"name":"Michael Champion","is_ca":false},{"name":"Sergei Korenev","is_ca":false},{"name":"Efsthatia Chronopoulou","is_ca":false},{"name":"Anirban Majumdar","is_ca":false},{"name":"Germaine Pierre","is_ca":false},{"name":"Daniel McArthur","is_ca":false},{"name":"Kyle Thompson","is_ca":false},{"name":"Plácido Navas","is_ca":false},{"name":"Antònia Ribes","is_ca":false},{"name":"Frederic Tort","is_ca":false},{"name":"Agatha Schlüter","is_ca":false},{"name":"Aurora Pujol","is_ca":false},{"name":"Raquel Montero","is_ca":false},{"name":"Georgia Sarquella‐Brugada","is_ca":false},{"name":"Hanns Lochmüller","is_ca":true},{"name":"C. Jimenez‐Mallebrera","is_ca":false},{"name":"Robert W. Taylor","is_ca":false},{"name":"Rafael Artuch","is_ca":false},{"name":"Janbernd Kirschner","is_ca":false},{"name":"Sarah C. Grünert","is_ca":false},{"name":"Andreas Roos","is_ca":false},{"name":"Rita Horváth","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.00683803232626492,"gpt":0.2629367398570983,"spread":0.2560987075308334,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000150017,0.000941085,0.0004195777,0.0008963878,0.0004942137,0.0004834491,0.000248583,0.0006491863,0.001824492],"category_scores_gemma":[0.0005866963,0.0002481487,0.0002269754,0.0005197493,0.0003957576,0.0003031971,0.0003629392,0.0003220841,0.0003379908],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001953021,"about_ca_system_score_gemma":0.0001250107,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001149047,"about_ca_topic_score_gemma":0.0009014073,"domain_scores_codex":[0.9998294,0.00002152793,0.00002419368,0.00005921747,0.00003153678,0.00003405107],"domain_scores_gemma":[0.9996234,0.00005146797,0.0001224115,0.00001087764,0.00003890872,0.0001528112],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001231019,0.0001463855,0.651387,0.0001035766,0.0001356602,0.2098034,0.0009767133,0.0004136013,0.1273269,0.0002342697,0.001084595,0.007156941],"study_design_scores_gemma":[0.000059103,0.0004914524,0.7309155,0.00003741594,0.0001138751,0.2593879,0.0004798672,0.0006425719,0.006658162,0.0002230043,0.0009578057,0.00003327402],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984525,0.0001319466,0.0001436439,0.00005921759,0.000005742491,0.000009857312,0.0001153245,0.00002095974,0.0010608],"genre_scores_gemma":[0.9993492,0.00006302394,0.0001312365,0.00005274679,0.00001476753,0.000005376971,0.0001360754,0.000006283283,0.0002412856],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001824492,"threshold_uncertainty_score":0.006103575,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2948701975","doi":"10.1002/jimd.12134","title":"Management of bone disease in cystinosis: Statement from an international conference","year":2019,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Biomedical Research and Pathophysiology","field":"Medicine","cited_by":62,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"McGill University; Shriners Hospitals for Children - Canada; Montreal Children's Hospital","funders":"Cystinosis Foundation","keywords":"Cystinosis; Human genetics; Medicine; Metabolic disease; Statement (logic); Pediatrics; Intensive care medicine; Internal medicine; Chemistry; Philosophy; Genetics; Biology; Biochemistry","authors":[{"name":"Katharina Hohenfellner","is_ca":false},{"name":"Frank Rauch","is_ca":true},{"name":"Gema Ariceta","is_ca":false},{"name":"Atif Awan","is_ca":false},{"name":"Justine Bacchetta","is_ca":false},{"name":"Carsten Bergmann","is_ca":false},{"name":"Susanne Bechtold","is_ca":false},{"name":"Noelle Cassidy","is_ca":false},{"name":"Geroges Deschenes","is_ca":false},{"name":"Ewa Elenberg","is_ca":false},{"name":"William A. Gahl","is_ca":false},{"name":"Oliver Greil","is_ca":false},{"name":"Erik Harms","is_ca":false},{"name":"Nadine Herzig","is_ca":false},{"name":"Bernd Höppe","is_ca":false},{"name":"Christian Koeppl","is_ca":false},{"name":"Malcolm Lewis","is_ca":false},{"name":"Elena Levtchenko","is_ca":false},{"name":"Galina Nesterova","is_ca":false},{"name":"Fernando Santos","is_ca":false},{"name":"Karl P. Schlingmann","is_ca":false},{"name":"Aude Servais","is_ca":false},{"name":"Neveen A. Soliman","is_ca":false},{"name":"Guenther Steidle","is_ca":false},{"name":"Clodagh Sweeney","is_ca":false},{"name":"Ulrike Treikauskas","is_ca":false},{"name":"Rezan Topaloğlu","is_ca":false},{"name":"А.Н. Цыгин","is_ca":false},{"name":"Koenraad Veys","is_ca":false},{"name":"Rodo von Vigier","is_ca":false},{"name":"Jozef Zustin","is_ca":false},{"name":"Dieter Haffner","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.02905201382022716,"gpt":0.3509062857979691,"spread":0.321854271977742,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.006094745,0.001706588,0.001060657,0.001211233,0.001948081,0.002873829,0.002659966,0.01704511,0.006884173],"category_scores_gemma":[0.008320495,0.0005157298,0.001682571,0.0009349488,0.001048233,0.004502156,0.003453082,0.01652991,0.004774882],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001904439,"about_ca_system_score_gemma":0.006798984,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00311403,"about_ca_topic_score_gemma":0.006432825,"domain_scores_codex":[0.9974321,0.00054283,0.0005924472,0.0002650371,0.0008171631,0.0003504039],"domain_scores_gemma":[0.9922822,0.0008771042,0.0004271345,0.0001745881,0.003767255,0.002471671],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00004392911,0.0002412571,0.001131485,0.0004658223,0.00001970886,0.001114258,0.0001363791,0.0003679504,0.0004932316,0.001403282,0.8823723,0.1122103],"study_design_scores_gemma":[0.00004048761,0.00009312129,0.001914148,0.002241845,0.0000283209,0.001701899,0.0002706759,0.0002444495,0.0001586064,0.001506332,0.991758,0.00004217065],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.00113424,0.05374011,0.002534787,0.8189607,0.1068838,0.0004963794,0.0002269203,0.0001285431,0.01589444],"genre_scores_gemma":[0.01272531,0.1528267,0.01756808,0.5771971,0.1903248,0.001352375,0.001611688,0.0001747039,0.0462192],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.01704511,"threshold_uncertainty_score":0.03223246,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2260880624","doi":"10.1007/s10545-015-9903-z","title":"Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests","year":2015,"lang":"en","type":"review","venue":"Journal of Inherited Metabolic Disease","topic":"Proteoglycans and glycosaminoglycans research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":60,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"","keywords":"Dermatan sulfate; Keratan sulfate; Glycosaminoglycan; Biochemistry; Heparan sulfate; Glycosyltransferase; Proteoglycan; Serine; Iduronic acid; Chondroitin sulfate; Disaccharide; Tetrasaccharide; Biosynthesis; Sulfatase; Chondroitin; Chemistry; Linker; Enzyme; Extracellular matrix","authors":[{"name":"Florin Sasarman","is_ca":true},{"name":"Catalina Maftei","is_ca":true},{"name":"Philippe M. Campeau","is_ca":true},{"name":"Catherine Brunel‐Guitton","is_ca":true},{"name":"Grant A. Mitchell","is_ca":true},{"name":"Pierre Allard","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.03406659278191691,"gpt":0.3403096015881141,"spread":0.3062430088061972,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003977508,0.001331924,0.0007636935,0.002240581,0.0003631576,0.0006323942,0.0005161687,0.0008097223,0.002568463],"category_scores_gemma":[0.001263962,0.0001808778,0.0003923783,0.002000914,0.0004759945,0.0006192352,0.0006263554,0.0006426454,0.001745563],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003543737,"about_ca_system_score_gemma":0.0003737639,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00151559,"about_ca_topic_score_gemma":0.0006399308,"domain_scores_codex":[0.9994661,0.00008611146,0.00007785823,0.000130712,0.0001691772,0.00007006549],"domain_scores_gemma":[0.9995827,0.0000672609,0.00008839012,0.00002682608,0.0001572012,0.00007759792],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.002080627,0.0006504226,0.599137,0.002073191,0.0002527737,0.0697742,0.0005993955,0.001088179,0.04603838,0.00313056,0.01540132,0.259774],"study_design_scores_gemma":[0.00007390395,0.0009284359,0.5587317,0.001798585,0.0006149211,0.2634236,0.001246506,0.002714383,0.04235202,0.006401563,0.1215546,0.0001596977],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"review","genre_scores_codex":[0.6212236,0.2544451,0.02851133,0.003738888,0.0007145504,0.0006368095,0.0128037,0.001481812,0.07644428],"genre_scores_gemma":[0.9127818,0.05136812,0.01505844,0.001737614,0.0005901598,0.0002024449,0.004968063,0.0001402202,0.0131531],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.002568463,"threshold_uncertainty_score":0.008592308,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2036931229","doi":"10.1007/s10545-009-1170-4","title":"Sleep‐related breathing in children with mucopolysaccharidosis","year":2009,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":59,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true},"ca_institutions":"University of Toronto; Children's Hospital of Eastern Ontario; Hospital for Sick Children","funders":"","keywords":"Polysomnography; Medicine; Pediatrics; Population; Body mass index; Sleep study; Internal medicine; Apnea","authors":[{"name":"Angela Nashed","is_ca":true},{"name":"Suhail Al‐Saleh","is_ca":true},{"name":"Jeremy Gibbons","is_ca":true},{"name":"Ian MacLusky","is_ca":true},{"name":"James Macfarlane","is_ca":true},{"name":"Andrea Riekstins","is_ca":true},{"name":"Joe T.R. Clarke","is_ca":true},{"name":"Indra Narang","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.009554397785137376,"gpt":0.2715964882069231,"spread":0.2620420904217857,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003734549,0.0003490743,0.0003612457,0.000788524,0.0004979688,0.0003289337,0.0001979725,0.0003395488,0.001462196],"category_scores_gemma":[0.001693378,0.00018193,0.0003118555,0.0008125103,0.000498965,0.0003244495,0.0003567628,0.0005520778,0.0001200353],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006081159,"about_ca_system_score_gemma":0.000762267,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007664351,"about_ca_topic_score_gemma":0.01144917,"domain_scores_codex":[0.9996725,0.0000550574,0.00004654254,0.00005233307,0.0001017727,0.00007172675],"domain_scores_gemma":[0.9990382,0.0001976858,0.000548267,0.00002460543,0.00006036217,0.0001308048],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00004654339,0.0000205793,0.9947931,0.00004310657,0.00001471428,0.002439215,0.0002280516,0.00002296002,0.0002735612,0.00002058097,0.0001495704,0.00194807],"study_design_scores_gemma":[0.000005343139,0.0001353291,0.9889199,0.00002334829,0.0000165756,0.01017558,0.0003889746,0.00003176463,0.0000701003,0.00001166735,0.0002183988,0.000002912309],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981906,0.0009363462,0.00003488963,0.00007530691,0.000009293643,0.0000202393,0.0002291694,0.000005399882,0.0004988052],"genre_scores_gemma":[0.9990552,0.0005234883,0.00008060527,0.00003818098,0.000009866056,0.00001389693,0.0002089821,0.000002049644,0.00006768265],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007664351,"threshold_uncertainty_score":0.01523948,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W3022090653","doi":"10.1002/jimd.12248","title":"A biallelic pathogenic variant in the <scp><i>OGDH</i></scp> gene results in a neurological disorder with features of a mitochondrial disease","year":2020,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":58,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"McMaster University","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of General Medical Sciences; Canadian Institutes of Health Research; National Institutes of Health; National Heart, Lung, and Blood Institute; Presbyterian Health Foundation","keywords":"Mitochondrial disease; Gene; Disease; Genetics; Mitochondrion; Metabolic disease; Biology; Medicine; Mitochondrial DNA; Endocrinology; Pathology","authors":[{"name":"Zheng Yie Yap","is_ca":false},{"name":"Klaudia Strucinska","is_ca":false},{"name":"Satoshi Matsuzaki","is_ca":false},{"name":"Sukyeong Lee","is_ca":false},{"name":"Yue Si","is_ca":false},{"name":"Kenneth M. Humphries","is_ca":false},{"name":"Mark A. Tarnopolsky","is_ca":true},{"name":"Wan Hee Yoon","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01283522651156361,"gpt":0.2301670724515302,"spread":0.2173318459399666,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002376754,0.001604573,0.0004794798,0.0008016401,0.0006050983,0.0003462006,0.0003977282,0.001568891,0.004293252],"category_scores_gemma":[0.0004069019,0.000254916,0.0006380752,0.0004786058,0.0007520277,0.0001764703,0.0006268104,0.0008637683,0.0009662203],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000357854,"about_ca_system_score_gemma":0.0003327673,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00168693,"about_ca_topic_score_gemma":0.001746456,"domain_scores_codex":[0.9996407,0.00004037018,0.00005232681,0.0001216675,0.00009512754,0.00004983098],"domain_scores_gemma":[0.9995885,0.00009704238,0.00009144055,0.00002715214,0.00004033225,0.0001555971],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"case_report","study_design_scores_codex":[0.0007980518,0.0003235836,0.01026069,0.0001390805,0.0001383742,0.2114632,0.0003447865,0.0002674224,0.7691893,0.0006609627,0.001386788,0.005027707],"study_design_scores_gemma":[0.0002921085,0.002194572,0.1795436,0.0001565915,0.0003805992,0.6231794,0.0004727239,0.003827791,0.177644,0.0006754864,0.01150581,0.0001272467],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9922715,0.0003631243,0.002006002,0.0003088784,0.0001477795,0.0001113762,0.001186274,0.0001889573,0.00341616],"genre_scores_gemma":[0.9960713,0.000141861,0.00105257,0.0001640595,0.00006520867,0.00002457529,0.0006181005,0.00006549199,0.001796748],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004293252,"threshold_uncertainty_score":0.01436239,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2793153829","doi":"10.1007/s10545-018-0161-8","title":"Unraveling the unknown areas of the human metabolome: the role of infrared ion spectroscopy","year":2018,"lang":"en","type":"review","venue":"Journal of Inherited Metabolic Disease","topic":"Metabolomics and Mass Spectrometry Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":57,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"University of Alberta","funders":"Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Radboud Universiteit","keywords":"Metabolome; Chemistry; Infrared spectroscopy; Metabolomics; Spectroscopy; Glutaric acid; Mass spectrometry; Identification (biology); Computational biology; Biochemistry; Biology; Chromatography; Physics","authors":[{"name":"Jonathan Martens","is_ca":false},{"name":"Giel Berden","is_ca":false},{"name":"Herman Bentlage","is_ca":false},{"name":"Karlien L. M. Coene","is_ca":false},{"name":"Udo F. H. Engelke","is_ca":false},{"name":"David S. Wishart","is_ca":true},{"name":"Monique van Scherpenzeel","is_ca":false},{"name":"Leo A. J. Kluijtmans","is_ca":false},{"name":"Ron A. Wevers","is_ca":false},{"name":"Jos Oomens","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01734821337693618,"gpt":0.2988354128554233,"spread":0.281487199478487,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008351982,0.0004796089,0.0006058066,0.001086829,0.0003069984,0.00139655,0.000428773,0.001139921,0.0009341202],"category_scores_gemma":[0.001028264,0.0001916954,0.0004462894,0.000761893,0.00114403,0.002079125,0.0008927601,0.001512476,0.0005303602],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003341757,"about_ca_system_score_gemma":0.0004544532,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005354272,"about_ca_topic_score_gemma":0.0005660394,"domain_scores_codex":[0.9997191,0.00008027828,0.00001743498,0.00007958908,0.00007459553,0.00002900184],"domain_scores_gemma":[0.9994853,0.00020015,0.0001209597,0.00006033587,0.00007124493,0.00006199011],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0007461829,0.0001461185,0.01966936,0.001758791,0.0002419842,0.001484438,0.0004900665,0.001828189,0.5830197,0.01601313,0.00673279,0.3678692],"study_design_scores_gemma":[0.0001186031,0.001657517,0.07762867,0.001370365,0.0005371717,0.01881546,0.001918797,0.02250144,0.4168844,0.1251808,0.3329165,0.0004702749],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.2561419,0.5141414,0.1784578,0.03721071,0.001505511,0.00009086343,0.001690811,0.0009227562,0.009838273],"genre_scores_gemma":[0.5788425,0.2438357,0.1611086,0.008635109,0.002001871,0.0000699086,0.0009698257,0.0001880618,0.004348296],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.00139655,"threshold_uncertainty_score":0.004417002,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W826469530","doi":"10.1007/s10545-015-9881-1","title":"Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups","year":2015,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":55,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true},"ca_institutions":"Alberta Children's Hospital; Ottawa Hospital; University of Alberta Hospital; University of British Columbia; Alberta Hospital Edmonton; University of Toronto; Western University; Montreal Children's Hospital; Centre Hospitalier Universitaire Sainte-Justine; Newborn Screening Ontario; Children's Hospital of Eastern Ontario; Hospital for Sick Children; University of Ottawa","funders":"Canadian Institutes of Health Research; Rare Disease Foundation; University of Ottawa","keywords":"Psychological intervention; Qualitative research; Medicine; Family medicine; Health care; Nursing; Disease; Psychology; Sociology; Political science; Pathology","authors":[{"name":"Sara D. Khangura","is_ca":true},{"name":"Kylie Tingley","is_ca":true},{"name":"Pranesh Chakraborty","is_ca":true},{"name":"Doug Coyle","is_ca":true},{"name":"Jonathan B. Kronick","is_ca":true},{"name":"Anne‐Marie Laberge","is_ca":true},{"name":"Julian Little","is_ca":true},{"name":"Fiona A. Miller","is_ca":true},{"name":"John J. Mitchell","is_ca":true},{"name":"Chitra Prasad","is_ca":true},{"name":"Shabnaz Siddiq","is_ca":true},{"name":"Komudi Siriwardena","is_ca":true},{"name":"Rebecca Sparkes","is_ca":true},{"name":"Kathy N. Speechley","is_ca":true},{"name":"Sylvia Stöckler","is_ca":true},{"name":"Yannis Trakadis","is_ca":true},{"name":"Brenda J. Wilson","is_ca":true},{"name":"Kumanan Wilson","is_ca":true},{"name":"Beth K. Potter","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.02306131957707324,"gpt":0.304997854249308,"spread":0.2819365346722347,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.02384627,0.0009865462,0.001444587,0.002071938,0.01502787,0.00523164,0.002893051,0.003405214,0.004269386],"category_scores_gemma":[0.03917867,0.001127735,0.000681869,0.002776864,0.01060002,0.00590787,0.008295772,0.005200421,0.0005878303],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.009695785,"about_ca_system_score_gemma":0.008546783,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01397539,"about_ca_topic_score_gemma":0.01776868,"domain_scores_codex":[0.9716528,0.02281002,0.0007637663,0.001071953,0.001039221,0.002662175],"domain_scores_gemma":[0.9555071,0.03426568,0.00272063,0.0008031498,0.002703802,0.003999708],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"qualitative","study_design_gemma":"qualitative","study_design_scores_codex":[0.00002353138,0.00002495208,0.001322064,0.00008339091,0.000003028397,0.0005737416,0.995889,0.00002323978,0.0001649324,0.0003536158,0.000309468,0.001229052],"study_design_scores_gemma":[0.000003537295,0.00003453645,0.0004712978,0.0000916251,0.000002201901,0.0002129768,0.9956746,0.00003429689,0.00007073045,0.0001081355,0.003287716,0.000008373499],"study_design_candidate":"qualitative","study_design_consensus":"qualitative","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9856955,0.001594734,0.002719355,0.00477845,0.0001140445,0.0004635378,0.0003105702,0.00003523028,0.004288412],"genre_scores_gemma":[0.9918032,0.001677436,0.001795597,0.001666758,0.00004240067,0.0008704015,0.0001608275,0.00003835216,0.001945089],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02384627,"threshold_uncertainty_score":0.1261126,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2032106612","doi":"10.1007/s10545-012-9466-1","title":"Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency","year":2012,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":54,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Université de Sherbrooke","funders":"","keywords":"Urinary system; Pyridoxine; Molybdenum cofactor; Cofactor; Molybdenum; Excretion; Internal medicine; Endocrinology; Pyridoxine Deficiency; Sulfite oxidase; Chemistry; Oxidase test; Epilepsy; Enzyme; Biochemistry; Medicine; Inorganic chemistry","authors":[{"name":"Philippa B. Mills","is_ca":false},{"name":"Emma Footitt","is_ca":false},{"name":"Serkan CEYHAN","is_ca":false},{"name":"Paula J. Waters","is_ca":true},{"name":"Cornelis Jakobs","is_ca":false},{"name":"Peter T. Clayton","is_ca":false},{"name":"Eduard A. Struys","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.00530993724241617,"gpt":0.2165779755135431,"spread":0.2112680382711269,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002204781,0.0006298741,0.0005901457,0.001396995,0.0005009343,0.0004390343,0.0002360818,0.0006945977,0.002111604],"category_scores_gemma":[0.001656303,0.0003429858,0.000315782,0.0009774193,0.0004605598,0.0003234007,0.0002963041,0.0004853494,0.0002538917],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001397247,"about_ca_system_score_gemma":0.0001680804,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000940904,"about_ca_topic_score_gemma":0.0008782884,"domain_scores_codex":[0.9997435,0.00005124605,0.00003785157,0.00006089352,0.00006172435,0.00004474754],"domain_scores_gemma":[0.9990677,0.000246503,0.0003194425,0.00004551524,0.00006661079,0.000254245],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001186994,0.0001245152,0.9485295,0.00009200223,0.0001446224,0.018944,0.0003218733,0.0001486679,0.02224007,0.00008631246,0.0003560732,0.00782533],"study_design_scores_gemma":[0.00002134585,0.0004637754,0.9562373,0.00001775764,0.00009623759,0.03946225,0.0002272117,0.0003844411,0.002445995,0.0002016947,0.0004262826,0.00001570937],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981642,0.0006239752,0.0001829611,0.00007886803,0.00001443185,0.000004818065,0.00009294032,0.00003189314,0.0008059151],"genre_scores_gemma":[0.999495,0.0001405929,0.0001145841,0.00002683401,0.00001687486,0.000002174016,0.00005500922,0.000002968066,0.0001460026],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002111604,"threshold_uncertainty_score":0.007064044,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W3085561812","doi":"10.1002/jimd.12312","title":"The phenotype associated with variants in <scp><i>TANGO2</i></scp> may be explained by a dual role of the protein in <scp>ER‐to‐Golgi</scp> transport and at the mitochondria","year":2020,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":54,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"McGill University; Concordia University","funders":"Natural Sciences and Engineering Research Council of Canada; Canadian Institutes of Health Research; Bundesministerium für Bildung und Forschung; Deutsche Forschungsgemeinschaft","keywords":"Endoplasmic reticulum; Golgi apparatus; Mitochondrion; Phenotype; Biology; Cell biology; Lactic acidosis; Transport protein; Biochemistry; Gene","authors":[{"name":"Miroslav P. Milev","is_ca":true},{"name":"Djenann Saint‐Dic","is_ca":true},{"name":"Khashayar Zardoui","is_ca":true},{"name":"Thomas Klopstock","is_ca":false},{"name":"Christopher J. Law","is_ca":true},{"name":"Felix Distelmaier","is_ca":false},{"name":"Michael Sacher","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.007869054278498084,"gpt":0.2101431343858748,"spread":0.2022740801073767,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000112619,0.0009103071,0.000353968,0.0006948195,0.0004023279,0.0003359413,0.0002546663,0.0006433777,0.002422422],"category_scores_gemma":[0.0002328049,0.0001543775,0.000476139,0.0003244649,0.0005919289,0.0002644654,0.000427334,0.0007532412,0.0004023306],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002050214,"about_ca_system_score_gemma":0.0001481044,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00150829,"about_ca_topic_score_gemma":0.003374362,"domain_scores_codex":[0.99984,0.00001399237,0.00002930173,0.00006057526,0.00003334133,0.00002263431],"domain_scores_gemma":[0.9996711,0.00006017215,0.0001273704,0.00003362423,0.00002417451,0.00008350716],"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":[0.0001207574,0.00002764085,0.005961065,0.000050783,0.00004407334,0.01199267,0.0001400856,0.00008076133,0.9796413,0.0001421891,0.00008874704,0.001709968],"study_design_scores_gemma":[0.00002732553,0.0005954372,0.2350469,0.00005731309,0.0002329847,0.1710456,0.0005609991,0.000982476,0.5863538,0.0006881182,0.004326694,0.00008244172],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9940095,0.0003911696,0.002908373,0.00008983321,0.00002983097,0.00002901324,0.0007353001,0.0001126905,0.001694191],"genre_scores_gemma":[0.9957456,0.0003260598,0.001951717,0.00007208173,0.00001041303,0.00001758541,0.000639113,0.00005747608,0.001180002],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002422422,"threshold_uncertainty_score":0.008103788,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W3087289298","doi":"10.1002/jimd.12316","title":"Novel therapies for mucopolysaccharidosis type <scp>III</scp>","year":2020,"lang":"en","type":"review","venue":"Journal of Inherited Metabolic Disease","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":54,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"","funders":"Medical Research Council Canada; Türkiye Bilimsel ve Teknolojik Araştırma Kurumu; Medical Research Council; National Institute for Health and Care Research","keywords":"Enzyme replacement therapy; Genetic enhancement; Medicine; Substrate reduction therapy; Mucopolysaccharidosis; Disease; Lysosomal storage disease; Clinical trial; Mucopolysaccharidosis type I; Transplantation; Mucopolysaccharidosis I; Cell therapy; Bioinformatics; Stem cell; Immunology; Oncology; Internal medicine; Biology; Gene","authors":[{"name":"Berna Şeker Yılmaz","is_ca":false},{"name":"James Davison","is_ca":false},{"name":"Simon Jones","is_ca":false},{"name":"Julien Baruteau","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.08197796777561117,"gpt":0.3745536499987195,"spread":0.2925756822231083,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004904451,0.0008255847,0.001122004,0.001848929,0.000241791,0.0007214865,0.0007514091,0.001028223,0.004055541],"category_scores_gemma":[0.0005373537,0.0001968809,0.0005673206,0.001059986,0.0003115388,0.0009831041,0.000525651,0.001905982,0.002134305],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000412623,"about_ca_system_score_gemma":0.0005041773,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004812635,"about_ca_topic_score_gemma":0.001291326,"domain_scores_codex":[0.9998615,0.0000254248,0.00001924865,0.00002301425,0.00005480951,0.00001598858],"domain_scores_gemma":[0.9998214,0.00008721726,0.00002605405,0.00000630751,0.00003964559,0.00001935309],"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":[0.0001151448,0.0001046975,0.00006535838,0.01212867,0.00009324304,0.0001947513,0.00004330877,0.0002696981,0.002876896,0.002784875,0.02309051,0.9582328],"study_design_scores_gemma":[0.00005753529,0.0002592598,0.0006045423,0.003914262,0.0001541856,0.001587055,0.0000483289,0.00008947013,0.001022683,0.001782199,0.9904596,0.00002088836],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.000171186,0.9984315,0.0001342952,0.0001735769,0.0002213132,0.000006738348,0.00001896667,0.000009201863,0.0008331071],"genre_scores_gemma":[0.0008578462,0.9975911,0.0003131747,0.0002433289,0.0001391012,0.0000124717,0.00004892657,0.000002510123,0.0007915046],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.004055541,"threshold_uncertainty_score":0.01356709,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W1545064199","doi":"10.1023/a:1005694320063","title":"Features of carnitine palmitoyltransferase type I deficiency","year":2001,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":53,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Newborn Screening Ontario","funders":"","keywords":"Gene isoform; Endocrinology; Internal medicine; Carnitine O-palmitoyltransferase; Isozyme; Carnitine; Myopathy; Skeletal muscle; Carnitine palmitoyltransferase I; Creatine kinase; Kidney; Biology; Beta oxidation; Medicine; Enzyme; Biochemistry; Gene","authors":[{"name":"S. E. Olpin","is_ca":true},{"name":"Jason D. Allen","is_ca":true},{"name":"James R. Bonham","is_ca":true},{"name":"S. Clark","is_ca":true},{"name":"Peter T. Clayton","is_ca":false},{"name":"J Calvin","is_ca":false},{"name":"M. Downing","is_ca":true},{"name":"Kevin Ives","is_ca":false},{"name":"S. Jones","is_ca":false},{"name":"N. J. Manning","is_ca":true},{"name":"R. J. Pollitt","is_ca":true},{"name":"Susan Standing","is_ca":false},{"name":"M S Tanner","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.00860184306787467,"gpt":0.2507452763281843,"spread":0.2421434332603097,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001999309,0.001717923,0.000647117,0.001252117,0.000903802,0.0003821352,0.0006202299,0.0009444314,0.002980768],"category_scores_gemma":[0.001434679,0.0003488546,0.0003611992,0.0006681478,0.0009869636,0.0004356412,0.0007434683,0.000692134,0.0005314864],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003964272,"about_ca_system_score_gemma":0.0003577285,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002640912,"about_ca_topic_score_gemma":0.001694191,"domain_scores_codex":[0.9997692,0.00002336435,0.00002154655,0.00006789185,0.00005146458,0.0000665789],"domain_scores_gemma":[0.9995397,0.0001326512,0.0001231165,0.00002538403,0.00004649203,0.0001327509],"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":[0.0001603526,0.00005692656,0.07660246,0.0001349883,0.00003765272,0.8948174,0.001022028,0.0003486418,0.01574891,0.000827272,0.0009440105,0.00929937],"study_design_scores_gemma":[0.000009684042,0.00009436496,0.03423172,0.00002243362,0.00003459694,0.9619405,0.0001543148,0.0001354822,0.001752329,0.0002225385,0.001390346,0.00001163208],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9842756,0.00140661,0.001974658,0.0005369195,0.00005785871,0.00005838857,0.0002843688,0.0001289037,0.01127668],"genre_scores_gemma":[0.9963084,0.0007351544,0.0006975236,0.0001903617,0.00007702045,0.00001949843,0.0001360717,0.00002216935,0.001813827],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002980768,"threshold_uncertainty_score":0.009971678,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2086237400","doi":"10.1023/b:boli.0000031100.26546.6e","title":"After the genome—the phenome?","year":2004,"lang":"en","type":"review","venue":"Journal of Inherited Metabolic Disease","topic":"Nutrition, Genetics, and Disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":53,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"McGill University; Montreal Children's Hospital","funders":"Fonds de Recherche du Québec - Santé","keywords":"Phenome; Mendelian inheritance; Biology; Genome; Metabolome; Proteome; Human genetics; Human genome; Computational biology; Phenotype; Genetics; Bioinformatics; Gene; Metabolomics","authors":[{"name":"C. R. Scriver","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01714229538536881,"gpt":0.2884012047025453,"spread":0.2712589093171764,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001184822,0.001233124,0.001794279,0.002251155,0.0006167914,0.002368977,0.001267872,0.002652018,0.006247669],"category_scores_gemma":[0.001854923,0.0003064297,0.0004459828,0.002521237,0.002839267,0.006789659,0.0009966404,0.004628738,0.00570004],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001630442,"about_ca_system_score_gemma":0.001733709,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003061907,"about_ca_topic_score_gemma":0.00368776,"domain_scores_codex":[0.9996086,0.0001335291,0.00002904278,0.00006726514,0.0001270732,0.00003457939],"domain_scores_gemma":[0.999177,0.0004147326,0.00005035872,0.00005221677,0.0001881421,0.0001174308],"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":[0.0001155976,0.00004519951,0.0003834389,0.004527682,0.00006216451,0.0004547734,0.00034063,0.0001499862,0.0007298833,0.02966041,0.2282438,0.7352864],"study_design_scores_gemma":[0.00001009671,0.00002931256,0.0004824312,0.002081365,0.00001729851,0.001154925,0.0002409109,0.0000273116,0.00009126033,0.01358694,0.9822661,0.00001220215],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00007256492,0.9827291,0.0004168704,0.01059433,0.00295321,0.000005124944,0.00002116859,0.00002137398,0.003186255],"genre_scores_gemma":[0.00142436,0.983997,0.0005984803,0.006886259,0.00222761,0.00001179418,0.00002727126,0.00001144524,0.004815695],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.006247669,"threshold_uncertainty_score":0.02090055,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null}]}