{"id":"W4309360333","doi":"10.1016/j.gim.2022.09.016","title":"Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities","year":2022,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Cancer-related gene regulation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"Vancouver General Hospital; BC Children's Hospital; University of British Columbia","funders":"Medical Research Council; King Salman Center for Disability Research; European Commission; European Regional Development Fund; Région Normandie; King Fahad Medical City; National Institute for Health and Care Research; University College London; National Human Genome Research Institute; Wellcome Trust; Fidelity Foundation; Yale University","keywords":"Brachydactyly; Short stature; Autism spectrum disorder; Hypotonia; Global developmental delay; Neurodevelopmental disorder; Intellectual disability; Craniofacial; Craniofacial abnormality; Medicine; Genetics; Pediatrics; Psychology; Phenotype; Autism; Biology; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001826104,0.0001894089,0.0002202318,0.00008554388,0.0001509448,0.0000233002,0.00009085114,0.00008682509,0.00002187971],"category_scores_gemma":[0.00003388468,0.0001662213,0.00001225157,0.0002084237,0.0002061411,0.000007743948,0.0001873983,0.000177757,1.826067e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004966282,"about_ca_system_score_gemma":0.000117117,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000313132,"about_ca_topic_score_gemma":0.000699876,"domain_scores_codex":[0.9987887,0.00006384997,0.0002140581,0.0004090059,0.0002729231,0.0002514413],"domain_scores_gemma":[0.9996141,0.00001350177,0.00008652178,0.0001577405,0.00005260262,0.00007549462],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006959646,0.0002368404,0.9625858,0.00006949127,0.0002935841,0.0001266747,0.001088835,0.003013787,0.02240346,0.00001484291,0.0005220724,0.008948633],"study_design_scores_gemma":[0.003406309,0.001777242,0.9897656,0.00009761404,0.0000844846,0.0004725154,0.001027147,0.0003476537,0.000417233,0.00009855782,0.002082362,0.000423304],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9971892,0.00181607,0.0001464869,0.0001484698,0.0001018184,0.0003410944,0.0001070362,0.0000117921,0.000138006],"genre_scores_gemma":[0.9981464,0.0006697348,0.0001651406,0.0001106448,0.00006110171,0.00003884571,0.0005012623,0.00003478283,0.0002721365],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02717976,"threshold_uncertainty_score":0.6778306,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007762384872306523,"score_gpt":0.2108033479042198,"score_spread":0.2030409630319133,"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."}}