{"id":"W4417498203","doi":"10.1002/mgg3.70165","title":"Phenotypic Variability and Paternal Inheritance of a <i>CHD8</i> Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses","year":2025,"lang":"en","type":"article","venue":"Molecular Genetics & Genomic Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Human Genome Research Institute; Common Fund; National Institutes of Health","keywords":"Macrocephaly; Epigenetics; Phenotype; Autism; Inheritance (genetic algorithm); Intellectual disability; Developmental disorder; Neurodevelopmental disorder","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":[0.0002538261,0.0005767334,0.0001910728,0.0006556701,0.0003561139,0.00031928,0.0003175848,0.0004896725,0.002048342],"category_scores_gemma":[0.001612875,0.0001461311,0.0002380112,0.0002564664,0.0004762786,0.0001315191,0.0004031855,0.0004495989,0.0003202311],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001936948,"about_ca_system_score_gemma":0.0001844629,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002143686,"about_ca_topic_score_gemma":0.002096676,"domain_scores_codex":[0.9996496,0.00004646997,0.0000379296,0.0001227757,0.00009419531,0.00004905741],"domain_scores_gemma":[0.9992983,0.0003321708,0.0001587831,0.00004167419,0.00006705439,0.0001018948],"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":[0.000549108,0.0001307257,0.4030143,0.00007764547,0.00009588366,0.4231654,0.001366837,0.0008340331,0.1555463,0.001460654,0.001119278,0.01264005],"study_design_scores_gemma":[0.00003795125,0.0003771057,0.3163319,0.00004539394,0.0001070971,0.6479448,0.0004190253,0.002812079,0.02824579,0.00055436,0.003086177,0.00003833275],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9956703,0.0001117314,0.001849286,0.0001409325,0.00001830953,0.00001368432,0.0003591449,0.00003645218,0.001800239],"genre_scores_gemma":[0.9984749,0.00004772075,0.001058746,0.0000456109,0.00001529249,0.000003601133,0.0001335072,0.00001690682,0.000203725],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002143686,"threshold_uncertainty_score":0.006852388,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006743254873010849,"score_gpt":0.249111403485382,"score_spread":0.2423681486123711,"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."}}