{"id":"W2917062797","doi":"10.1002/ajmg.a.61095","title":"NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypes","year":2019,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Fetal and Pediatric Neurological Disorders","field":"Medicine","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa; Hospital for Sick Children","funders":"Canadian Institutes of Health Research; Children's Hospital of Eastern Ontario Foundation; Ontario Genomics Institute; Genome Canada","keywords":"Proband; Sanger sequencing; Phenotype; Microcephaly; Hydrocephalus; Genetics; Exome sequencing; Dandy–Walker syndrome; Medicine; Anatomy; Biology; Mutation; Surgery","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":[0.0001565586,0.0009464559,0.0004161492,0.001010082,0.001055942,0.0003422215,0.0002789621,0.000597989,0.001281315],"category_scores_gemma":[0.0007578965,0.0002575223,0.0003441535,0.0008185304,0.0007175034,0.0001792356,0.0006593519,0.000513209,0.0001524995],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004168061,"about_ca_system_score_gemma":0.0004219217,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004878063,"about_ca_topic_score_gemma":0.006027417,"domain_scores_codex":[0.9998314,0.00001463185,0.00001793022,0.00005848885,0.00004144073,0.00003609326],"domain_scores_gemma":[0.9997098,0.00007438015,0.0000634052,0.0000153615,0.00001992874,0.0001171101],"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":[0.0002164196,0.0001014608,0.0830752,0.00005239383,0.00005200191,0.8765042,0.001213937,0.0001979496,0.03112067,0.0005164624,0.0003765257,0.006572765],"study_design_scores_gemma":[0.00003308893,0.0000900477,0.1023258,0.0000243153,0.00006973945,0.8899626,0.0003369861,0.0005101654,0.004923217,0.0002654505,0.0014302,0.00002846982],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980415,0.000215035,0.0004355002,0.00009782558,0.00001236584,0.00001814871,0.0001250005,0.00002411246,0.001030468],"genre_scores_gemma":[0.9987937,0.0001419914,0.0005384137,0.00005756253,0.00001325912,0.000006429422,0.00009117843,0.00001008173,0.0003473281],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004878063,"threshold_uncertainty_score":0.009699345,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01062682041829492,"score_gpt":0.2441177473788536,"score_spread":0.2334909269605587,"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."}}