{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001853579,0.001201202,0.0006796975,0.001095438,0.0009023456,0.0005160002,0.0009083243,0.001690465,0.0067275],"category_scores_gemma":[0.0008812345,0.0001557566,0.0007363507,0.0006161301,0.0007465066,0.0002872931,0.0005328191,0.0007201466,0.0007498472],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005470294,"about_ca_system_score_gemma":0.0004084169,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001238647,"about_ca_topic_score_gemma":0.001193987,"domain_scores_codex":[0.999796,0.00002695059,0.00002550035,0.0000706588,0.00005109044,0.00002974783],"domain_scores_gemma":[0.9994639,0.0001825608,0.0001594963,0.00002120222,0.00003487764,0.0001379395],"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":[0.002323874,0.0002628116,0.05322193,0.0005598406,0.0003095027,0.5840788,0.0007744689,0.001991669,0.3274177,0.004906518,0.002906274,0.0212465],"study_design_scores_gemma":[0.0005112775,0.0006095537,0.1841166,0.0003436629,0.0009891174,0.6421661,0.0009098544,0.0100245,0.1271724,0.004954122,0.0280655,0.0001374093],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9881144,0.001758905,0.002713216,0.001195301,0.0002820605,0.00006098607,0.001243187,0.0001202332,0.004511639],"genre_scores_gemma":[0.9950664,0.0003177753,0.001749894,0.0001387527,0.0001076156,0.00002135312,0.0004881305,0.00003292652,0.002077194],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0067275,"threshold_uncertainty_score":0.0225057,"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."}}