{"id":"W3109333644","doi":"10.1126/sciadv.abc9207","title":"Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients","year":2020,"lang":"en","type":"article","venue":"Science Advances","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":99,"is_retracted":false,"has_abstract":true,"ca_institutions":"Shared Services Canada; Mount Sinai Hospital; University of British Columbia; Hospital for Sick Children; SickKids Foundation; Newborn Screening Ontario; University of Toronto; University of Calgary; Children's Hospital of Eastern Ontario; Alberta Children's Hospital","funders":"National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; Canadian Institutes of Health Research; Fondazione Bambino Gesù; National Institute of Diabetes and Digestive and Kidney Diseases; Simons Foundation Autism Research Initiative; Eesti Teadusfondi; National Institute of Dental and Craniofacial Research; Ontario Genomics Institute; National Heart, Lung, and Blood Institute; Ministero della Salute; Genome Canada; Dipartimenti di Eccellenza; Fondation Maladies Rares; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Broad Institute; National Institutes of Health; Ontario Genomics; National Human Genome Research Institute; Agence Nationale de la Recherche; National Cancer Institute; Genomic Health","keywords":"Germline; Histone; Germline mutation; Genetics; Cancer; Biology; Mutation; Epigenetics; Cancer research; Medicine; DNA; Gene","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":[0.00009676091,0.000847202,0.0002749562,0.0005467198,0.0007875807,0.0004556316,0.0002505422,0.0004735685,0.002216701],"category_scores_gemma":[0.0003802927,0.0003140078,0.0003211884,0.0004330467,0.0005976742,0.0002448857,0.0003901718,0.0002859813,0.0003796109],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004446501,"about_ca_system_score_gemma":0.0003191397,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004902962,"about_ca_topic_score_gemma":0.004400134,"domain_scores_codex":[0.999813,0.00001053737,0.0000181589,0.00008702518,0.0000257615,0.00004562419],"domain_scores_gemma":[0.9998778,0.00001566217,0.00003879286,0.000009882093,0.000008809506,0.00004911758],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00102576,0.0002205115,0.6918988,0.0001168281,0.0002267307,0.1762912,0.001968499,0.0005557558,0.08739411,0.0007004769,0.001594373,0.03800708],"study_design_scores_gemma":[0.00006759472,0.0006475045,0.6543464,0.00004903885,0.0002238826,0.3226269,0.000495742,0.000679079,0.01556273,0.0004515377,0.004803196,0.00004640567],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978374,0.0004278149,0.0004064821,0.0000650513,0.000009084314,0.00001874132,0.0002814458,0.00002826496,0.0009258528],"genre_scores_gemma":[0.9986008,0.0002085779,0.0002592691,0.00004704413,0.000006574184,0.000005521288,0.0002502116,0.000008315368,0.0006137043],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004902962,"threshold_uncertainty_score":0.009748816,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01045934901837163,"score_gpt":0.2850120905523971,"score_spread":0.2745527415340255,"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."}}