{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001598803,0.0002927417,0.0003759145,0.00007317455,0.00009946658,0.00002506469,0.0001123613,0.0001153449,0.00001870668],"category_scores_gemma":[0.00007677044,0.0002419606,0.00002817624,0.0001137838,0.0005960329,0.000002872832,0.0002184992,0.00008835411,1.643228e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002011684,"about_ca_system_score_gemma":0.0001731128,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001522641,"about_ca_topic_score_gemma":0.00005630842,"domain_scores_codex":[0.9985428,0.00009448788,0.0003920294,0.0005740758,0.0001301934,0.0002663526],"domain_scores_gemma":[0.9993788,0.0000400901,0.0001194858,0.000234606,0.00007552797,0.0001514938],"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":[0.0002094357,0.00003205986,0.01506001,0.0001348025,0.0002896471,0.00002488944,0.000470019,0.00006718157,0.9790678,0.00009254045,0.00005316697,0.004498428],"study_design_scores_gemma":[0.01754501,0.003956026,0.4792261,0.0007517702,0.002476796,0.00160787,0.002341274,0.00589147,0.4628495,0.004821224,0.01569686,0.00283608],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9607866,0.02699357,0.01156055,0.0001393561,0.00006561363,0.00029841,0.00004990466,0.00000530554,0.0001006485],"genre_scores_gemma":[0.9949812,0.001929035,0.002546485,0.000335773,0.00002516203,0.00001132368,0.0000822642,0.00002557485,0.00006316207],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5162184,"threshold_uncertainty_score":0.9866869,"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."}}