{"id":"W3202170491","doi":"10.1002/path.5812","title":"Homozygous <scp><i>WASHC4</i></scp> variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement","year":2021,"lang":"en","type":"article","venue":"The Journal of Pathology","topic":"Molecular Biology Techniques and Applications","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"National Eye Institute; Leibniz-Gemeinschaft; European Research Council; Medical Research Council; Canadian Institutes of Health Research; Lily Foundation; Evelyn Trust; Bundesministerium für Bildung und Forschung; Canada Research Chairs; Ataxia UK; Muscular Dystrophy Canada; Muscular Dystrophy Association; Canada Foundation for Innovation; Newton Fund; European Regional Development Fund; Broad Institute; French Muscular Dystrophy Association; National Human Genome Research Institute; Ministerium für Kultur und Wissenschaft des Landes Nordrhein-Westfalen; Wellcome Trust; University of Kentucky","keywords":"Skeletal muscle; Phenotype; Muscle biopsy; Zebrafish; Actin; Biology; Actinin; Gene knockdown; Pathology; Desmin; Bioinformatics; Cell biology; Genetics; Biopsy; Medicine; Gene; Immunohistochemistry; Endocrinology; Cytoskeleton","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":[0.0005284735,0.0001732263,0.0002472674,0.00003525541,0.0001023248,0.00001652072,0.0002397554,0.0001164657,0.00001177309],"category_scores_gemma":[0.000287928,0.0001339409,0.00007128919,0.0001221799,0.0003789386,0.000005452051,0.0002910591,0.0002323902,0.000002537256],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004497015,"about_ca_system_score_gemma":0.000136775,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004567885,"about_ca_topic_score_gemma":0.0005359949,"domain_scores_codex":[0.9986539,0.0003262729,0.0004189864,0.0002505693,0.00009343308,0.0002567935],"domain_scores_gemma":[0.9993193,0.0001230334,0.0001852247,0.0002304291,0.00007705818,0.00006502045],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00003142066,0.0005474161,0.003797609,0.0000209542,0.00009747868,0.0003770822,0.0005524062,0.00001553216,0.9899503,0.000201224,0.001412078,0.002996502],"study_design_scores_gemma":[0.01547133,0.007905272,0.08711889,0.000288084,0.001025865,0.1156954,0.01566827,0.000240608,0.5779326,0.01204778,0.1648685,0.001737369],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9907927,0.002834039,0.005569463,0.0004317674,0.00007097231,0.000195477,0.00002283716,0.00000604786,0.00007669337],"genre_scores_gemma":[0.9951492,0.001238988,0.002946017,0.0004365669,0.00004109774,0.00002409455,0.00006933174,0.0000187997,0.00007591373],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4120177,"threshold_uncertainty_score":0.546195,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01062248232590345,"score_gpt":0.2540828076460677,"score_spread":0.2434603253201643,"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."}}