{"id":"W2977626223","doi":"10.1016/j.ajhg.2019.09.005","title":"De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects","year":2019,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Cardiovascular Effects of Exercise","field":"Medicine","cited_by":51,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital; Université de Montréal; Montreal Clinical Research Institute; McGill University Health Centre","funders":"National Institute of Neurological Disorders and Stroke; National Human Genome Research Institute; Fonds de Recherche du Québec - Santé; Canada Research Chairs; Harvard University; Canada Foundation for Innovation; Canadian Institutes of Health Research; Sick Kids Foundation; Broad Institute; National Institutes of Health; Rotary Foundation","keywords":"Corpus callosum; Medicine; Axon; Neurodevelopmental disorder; Sex organ; Cadherin; Neuroscience; Pathology; Biology; Anatomy; Genetics; Gene","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":[0.0005875584,0.0002540193,0.0008303663,0.0001807584,0.00006292896,0.00004302646,0.0002079723,0.00004111018,0.00001581479],"category_scores_gemma":[0.00002902977,0.0001800713,0.0002420793,0.0002697606,0.0003493799,0.0000532148,0.0001094366,0.0004471854,0.00001077675],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001431888,"about_ca_system_score_gemma":0.0002443388,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005712139,"about_ca_topic_score_gemma":0.00005066875,"domain_scores_codex":[0.998311,0.0002674092,0.0003836975,0.0002391585,0.0004127379,0.0003860087],"domain_scores_gemma":[0.9988531,0.00007772691,0.0003050222,0.0004510935,0.0001001873,0.0002128635],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001229401,0.0002390304,0.7968156,0.00009602679,0.001288014,0.004398378,0.001484555,0.0006863905,0.1791932,0.00001765914,0.0000367823,0.014515],"study_design_scores_gemma":[0.0033447,0.002834673,0.9782987,0.0001729399,0.0007472531,0.01297787,0.0004437721,0.00006066693,0.0007216183,0.00002336637,0.0001129107,0.0002615644],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9963323,0.002876875,0.0000593499,0.00005373489,0.00009761407,0.0005102399,0.000005136587,0.000009694482,0.00005508561],"genre_scores_gemma":[0.9980437,0.0005404336,0.00105335,0.0001678592,0.00007348497,0.00000651882,0.000002456185,0.00006774962,0.00004450457],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1814831,"threshold_uncertainty_score":0.7343095,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005841986977831146,"score_gpt":0.2277039594510274,"score_spread":0.2218619724731963,"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."}}