{"id":"W3095196237","doi":"10.1111/cge.13877","title":"PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations","year":2020,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine","funders":"National Institute of Child Health and Human Development; UCLH Biomedical Research Centre; Medical Research Council; National Institutes of Health; Fonds de Recherche du Québec - Santé; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Boston Children's Hospital; Rosetrees Trust; Simons Foundation Autism Research Initiative; Wellcome Trust; Canadian Institutes of Health Research; JPB Foundation; Intellectual and Developmental Disabilities Research Center","keywords":"Microcephaly; Hypotonia; Autism spectrum disorder; Phenotype; Speech delay; Dysarthria; Intellectual disability; Hearing loss; Global developmental delay; Medicine; Language delay; Apraxia; Psychomotor retardation; Autism; Neurodevelopmental disorder; Genetics; Pediatrics; Biology; Pathology; Psychology; Audiology; Gene; Language development; Psychiatry","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001320179,0.0001171571,0.0002204027,0.00002340817,0.00009386763,0.00002287495,0.00009318213,0.00009415915,0.00008220737],"category_scores_gemma":[0.001021136,0.00009718367,0.00004561581,0.0002425502,0.0002388284,0.00001858569,0.0001002932,0.0003357003,0.00001561785],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002721066,"about_ca_system_score_gemma":0.0002873299,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007235038,"about_ca_topic_score_gemma":0.00004805236,"domain_scores_codex":[0.9986649,0.0000773851,0.0003158738,0.0003329082,0.0003573067,0.0002516937],"domain_scores_gemma":[0.9990835,0.0002140139,0.00005929271,0.0001253611,0.0001241343,0.0003936734],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001106145,0.0003938905,0.985947,0.00005322294,0.00008147207,0.0004232346,0.0006620756,0.0000185213,0.0002190253,0.00003577981,0.001804603,0.01025058],"study_design_scores_gemma":[0.002196065,0.001642375,0.9929901,0.00002040844,0.00007929199,0.00007465927,0.0003201049,0.0009611997,0.00003288718,0.00002457917,0.00149852,0.0001597949],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9912414,0.0001704618,0.00007782869,0.006218038,0.0000396476,0.0003073204,0.00002873895,0.00004640704,0.001870151],"genre_scores_gemma":[0.9946224,0.0002000863,0.001182994,0.003539695,0.00005276789,0.000006353793,0.00006469747,0.0000253197,0.0003056689],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01009078,"threshold_uncertainty_score":0.3963035,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08850850903575279,"score_gpt":0.3589392011873746,"score_spread":0.2704306921516218,"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."}}