{"id":"W2899420465","doi":"10.1038/s41467-018-06014-6","title":"CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language","year":2018,"lang":"en","type":"article","venue":"Nature Communications","topic":"Chromatin Remodeling and Cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":121,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; University of Calgary; BC Children's Hospital; University of British Columbia; Alberta Children's Hospital; Centre Hospitalier Universitaire Sainte-Justine","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Child Health and Human Development; Canadian Institutes of Health Research; National Institute for Health and Care Research; National Institute on Deafness and Other Communication Disorders; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Wellcome Trust; Max-Planck-Gesellschaft; Waisman Center","keywords":"Chromatin remodeling; Macrocephaly; Biology; Genetics; Missense mutation; Chromatin; Intellectual disability; Phenotype; FOXP2; Mutation; Gene; Transcription factor","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":[0.00009849298,0.001004496,0.0003069786,0.001087816,0.0004174021,0.000203393,0.0002362191,0.0005328651,0.0009247604],"category_scores_gemma":[0.0003810942,0.000234445,0.0002386047,0.0005439579,0.0005986428,0.000100413,0.0004549476,0.0003848983,0.0001622764],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003690057,"about_ca_system_score_gemma":0.0002893934,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002022181,"about_ca_topic_score_gemma":0.004809068,"domain_scores_codex":[0.9998121,0.00001304333,0.00001828817,0.00005397625,0.00007443155,0.00002830626],"domain_scores_gemma":[0.9998322,0.00005509498,0.00004353113,0.00001018967,0.000007621434,0.00005136387],"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":[0.0006947085,0.0001669726,0.1404409,0.0001664657,0.0002435737,0.2259294,0.0009819182,0.001030954,0.6009632,0.0009195445,0.001057623,0.0274047],"study_design_scores_gemma":[0.0001163446,0.0005887364,0.5077916,0.00004468062,0.0002448301,0.3459371,0.0004089914,0.001968762,0.13647,0.0005823246,0.005800115,0.00004657109],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974674,0.000242451,0.001123424,0.00006577538,0.000009075267,0.00002584029,0.0003460211,0.0000499982,0.0006699914],"genre_scores_gemma":[0.9978836,0.0001941202,0.001263657,0.00003894196,0.000009803437,0.00001105496,0.000220086,0.000009834564,0.0003688456],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002022181,"threshold_uncertainty_score":0.00402087,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00864009597796348,"score_gpt":0.2838675049935306,"score_spread":0.2752274090155671,"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."}}