{"id":"W3210073701","doi":"10.1038/s41431-021-00985-9","title":"ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum","year":2021,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Autism Spectrum Disorder Research","field":"Neuroscience","cited_by":15,"is_retracted":false,"has_abstract":false,"ca_institutions":"Montreal Children's Hospital; McGill University; McGill University Health Centre","funders":"Conseil régional de Bourgogne-Franche-Comté; Agence Nationale de la Recherche; Université de Bourgogne; European Commission","keywords":"Intellectual disability; Autism; Autism spectrum disorder; Missense mutation; Exome sequencing; Epilepsy; Neurodevelopmental disorder; Genetics; Exome; Copy-number variation; Phenotype; Biology; Gene; Medicine; Psychiatry; Genome","routes":{"ca_aff":true,"ca_fund":false,"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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0006417104,0.0002785616,0.000362759,0.0003548973,0.000229536,0.0001737459,0.0008581538,0.00003171358,0.0002617245],"category_scores_gemma":[0.0002285634,0.0002691516,0.0001368966,0.0006079922,0.0001900968,0.0001538214,0.0005595493,0.0007401286,0.00008518738],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001193313,"about_ca_system_score_gemma":0.0003606745,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007427351,"about_ca_topic_score_gemma":0.0001632146,"domain_scores_codex":[0.9963717,0.0007443702,0.0009506037,0.0004860274,0.0007708538,0.0006764679],"domain_scores_gemma":[0.9988486,0.00007126319,0.0003883918,0.0004055928,0.00004304555,0.0002431673],"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":[0.00006852214,0.0008462153,0.01246123,0.00002203249,0.00001803082,0.007941373,0.001702799,0.0003991621,0.9742393,0.0009485742,0.0002038011,0.001148901],"study_design_scores_gemma":[0.005838323,0.001000605,0.3169929,0.000111641,0.00002464318,0.001176299,0.0002730878,0.0005463812,0.66596,0.0008394754,0.006612095,0.0006244977],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9936828,0.0006737321,0.0008195739,0.00235233,0.0003931957,0.0001610145,0.00001345092,0.00001721826,0.001886669],"genre_scores_gemma":[0.9971426,0.0005881975,0.001221539,0.0003134364,0.0001574854,0.000001264134,0.000003446336,0.00009448807,0.000477607],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3082793,"threshold_uncertainty_score":0.999976,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03494851246339829,"score_gpt":0.2791768479472506,"score_spread":0.2442283354838523,"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."}}