{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000169879,0.001355016,0.0003932225,0.0007675008,0.000407611,0.0002976751,0.0002770004,0.0007350318,0.00265867],"category_scores_gemma":[0.0008691562,0.0002114248,0.0001846924,0.0005850972,0.0007299067,0.0002224658,0.001112098,0.0003469024,0.000397637],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001796543,"about_ca_system_score_gemma":0.0002807147,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001034559,"about_ca_topic_score_gemma":0.001318982,"domain_scores_codex":[0.9997987,0.00002826696,0.00002514964,0.00006470099,0.00004733897,0.00003592159],"domain_scores_gemma":[0.9997255,0.00005719507,0.0001232855,0.00001898857,0.00001598767,0.00005904931],"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":[0.0007186992,0.0001183533,0.0787942,0.0003473432,0.0001189912,0.7647007,0.000448366,0.0003116102,0.1193262,0.001186874,0.002253229,0.03167551],"study_design_scores_gemma":[0.00004981274,0.0003176718,0.1454229,0.00008563085,0.0001005524,0.831503,0.0002719854,0.0003504295,0.01426747,0.0009519585,0.006647441,0.00003111304],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9874381,0.002702113,0.002038057,0.0003502889,0.00006616359,0.0000548381,0.0007187255,0.0002156008,0.006416032],"genre_scores_gemma":[0.9948983,0.001428904,0.00105908,0.0001544462,0.00004496176,0.00001850874,0.0004242462,0.00003127697,0.001940278],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00265867,"threshold_uncertainty_score":0.008894145,"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."}}