{"id":"W3132276244","doi":"10.1016/j.ajhg.2021.01.015","title":"SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females","year":2021,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":90,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Ottawa; Children's Hospital of Eastern Ontario; McMaster Children's Hospital; London Health Sciences Centre","funders":"National Institutes of Health; National Institute of Mental Health; National Heart, Lung, and Blood Institute; Ministero della Salute; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Broad Institute; National Human Genome Research Institute; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Wellcome Trust; National Alliance for Research on Schizophrenia and Depression; Genome Canada; Simons Foundation Autism Research Initiative; ZonMw; Simons Foundation; National Eye Institute; Fondazione Bambino Gesù; Brain and Behavior Research Foundation","keywords":"Haploinsufficiency; Neurodevelopmental disorder; Genetics; Epigenetics; Autism spectrum disorder; Biology; Hypotonia; DNA methylation; Gene; Autism; Medicine; Phenotype; Gene expression; Psychiatry","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":[0.0001737886,0.001326796,0.000574816,0.001601809,0.0006010936,0.0002235911,0.0005968417,0.0009145658,0.006061054],"category_scores_gemma":[0.0005293589,0.0003364689,0.0004188079,0.0005032732,0.0007430274,0.0002432895,0.0008110057,0.0005201584,0.0006981709],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002090463,"about_ca_system_score_gemma":0.0002823381,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001099956,"about_ca_topic_score_gemma":0.001396851,"domain_scores_codex":[0.9997117,0.00004009502,0.00004167235,0.00009040793,0.00007200555,0.00004414475],"domain_scores_gemma":[0.999656,0.0000976035,0.0001052679,0.00002590976,0.0000165493,0.00009872569],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001081105,0.0001221617,0.01896609,0.00009791048,0.0001167875,0.2088478,0.0004569768,0.0004337211,0.7572189,0.001479112,0.0006736745,0.01050576],"study_design_scores_gemma":[0.0001659111,0.0006016323,0.2028509,0.00006180418,0.0003903348,0.5469437,0.0004196349,0.001616457,0.2368587,0.001266736,0.008750163,0.00007401494],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9950217,0.0004024733,0.001078474,0.0002325446,0.00004757254,0.00002023669,0.0006914575,0.00009635272,0.002409259],"genre_scores_gemma":[0.995874,0.0002711523,0.0008711115,0.00007005858,0.00004529681,0.00001542103,0.0002918323,0.00004690364,0.002514171],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006061054,"threshold_uncertainty_score":0.02027625,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01112075938015821,"score_gpt":0.2433723752622113,"score_spread":0.232251615882053,"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."}}