{"id":"W4312129335","doi":"10.1002/ajmg.a.63096","title":"A novel <i>CHD3</i> variant in a patient with central precocious puberty: Expanded phenotype of <scp>Snijders Blok‐Campeau</scp> syndrome?","year":2022,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genomics and Chromatin Dynamics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"Vitalité Health Network; Atlantic Cancer Research Institute; Dr. Georges-L.-Dumont University Hospital Centre; Université de Moncton; Université de Sherbrooke; Dalhousie University; University of New Brunswick","funders":"","keywords":"Central precocious puberty; Autism spectrum disorder; Precocious puberty; Phenotype; Intellectual disability; Exome sequencing; Gene; Medicine; Genetics; Autism; Biology; Internal medicine; Psychiatry","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":[0.0001642576,0.001291043,0.0006354774,0.001244141,0.001072905,0.0005896857,0.000638707,0.002444313,0.002499064],"category_scores_gemma":[0.001337294,0.0004240511,0.0005287189,0.0007042439,0.001156522,0.0004311744,0.0006993475,0.001261766,0.0003766239],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005073093,"about_ca_system_score_gemma":0.0004265007,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004083089,"about_ca_topic_score_gemma":0.003239607,"domain_scores_codex":[0.9997035,0.00002115701,0.00002459983,0.0001260995,0.00005204219,0.00007259975],"domain_scores_gemma":[0.9993718,0.000235053,0.00009370042,0.00002344182,0.00003697626,0.0002389518],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00006887561,0.00002745921,0.007319733,0.00002080648,0.00000999649,0.9844201,0.0002669113,0.00007851175,0.00598835,0.0001967242,0.0002994032,0.001303148],"study_design_scores_gemma":[0.00003485685,0.0001291188,0.02365907,0.00001959111,0.00002555665,0.9722091,0.0001641802,0.0004664961,0.002094128,0.0002601379,0.0009159211,0.00002182587],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.992227,0.0006008106,0.001217789,0.00115962,0.0001448472,0.00007904575,0.0003588554,0.0001038368,0.004108328],"genre_scores_gemma":[0.9980859,0.0001385266,0.0006395984,0.0002691333,0.00009476353,0.00001151307,0.00007697134,0.00002172795,0.0006618792],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004083089,"threshold_uncertainty_score":0.008360207,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004457888659891122,"score_gpt":0.2044376209700201,"score_spread":0.199979732310129,"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."}}