{"id":"W1908191708","doi":"10.1002/humu.22843","title":"Matching Two Independent Cohorts Validates<i>DPH1</i>as a Gene Responsible for Autosomal Recessive Intellectual Disability with Short Stature, Craniofacial, and Ectodermal Anomalies","year":2015,"lang":"en","type":"article","venue":"Human Mutation","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":44,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; Western University; Alberta Children's Hospital; University of Calgary","funders":"National Heart, Lung, and Blood Institute; Canadian Institutes of Health Research; National Institutes of Health","keywords":"Biology; Short stature; Craniofacial; Genetics; Gene; Intellectual disability; Endocrinology","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.003447701,0.000825059,0.0007848421,0.00186829,0.001977187,0.001240593,0.001099979,0.001188581,0.004328513],"category_scores_gemma":[0.01023989,0.0002904041,0.0008558774,0.001443444,0.000672949,0.0005090075,0.002769991,0.0009952992,0.001186155],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006072234,"about_ca_system_score_gemma":0.0007703207,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004743504,"about_ca_topic_score_gemma":0.003911227,"domain_scores_codex":[0.9963796,0.0006676784,0.0004210171,0.001097633,0.001101951,0.0003321328],"domain_scores_gemma":[0.9940427,0.001447577,0.0009287116,0.001908265,0.001050652,0.0006221867],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001546744,0.0003521658,0.8810556,0.0001669609,0.001055767,0.01070559,0.001952776,0.0002789625,0.05223477,0.001712581,0.006225381,0.0427126],"study_design_scores_gemma":[0.0002344537,0.0011786,0.8923615,0.000089377,0.0009210001,0.0320501,0.001359024,0.001166789,0.03776493,0.001545204,0.03123952,0.00008950631],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9793508,0.0006676025,0.006968998,0.0007742061,0.0002406648,0.0003701794,0.00458244,0.0001178413,0.006927226],"genre_scores_gemma":[0.9871351,0.0003690763,0.003263373,0.0008366572,0.00009229989,0.0001827411,0.006121045,0.00008161026,0.001918071],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004743504,"threshold_uncertainty_score":0.01823336,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02280722345475975,"score_gpt":0.2937256062670532,"score_spread":0.2709183828122935,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}