{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001985107,0.000184418,0.0001468349,0.00003630839,0.0001647399,0.00006560816,0.00008514321,0.00008285313,0.000009066419],"category_scores_gemma":[0.00006553902,0.0001730997,0.00003232346,0.00006229647,0.0001395669,0.00001345416,0.00008067515,0.00007574098,0.000001567665],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002806792,"about_ca_system_score_gemma":0.0001562953,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006971233,"about_ca_topic_score_gemma":0.0005987964,"domain_scores_codex":[0.9988769,0.00007940902,0.0002038011,0.0004383433,0.0001821918,0.0002193157],"domain_scores_gemma":[0.9995202,0.00002360695,0.00006224589,0.0001583592,0.0001237104,0.0001118916],"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":[0.001428228,0.0001837025,0.03385471,0.00005635847,0.0001069572,0.00001557182,0.004170947,0.001042979,0.9571946,0.0001363156,0.0002552074,0.001554477],"study_design_scores_gemma":[0.003095821,0.002393365,0.1856168,0.00003179979,0.00009607012,0.0001680204,0.00231599,0.0002172817,0.7993184,0.004882862,0.001094614,0.0007688788],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968343,0.0001122351,0.002142122,0.00004660811,0.00006879531,0.0005259914,0.00003853255,0.00001910344,0.0002122966],"genre_scores_gemma":[0.9966513,0.00002428568,0.002303685,0.0001320461,0.00003247952,0.00007842192,0.0006243099,0.00003100951,0.0001224455],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1578761,"threshold_uncertainty_score":0.7058799,"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."}}