{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003395362,0.002186723,0.0007568323,0.00166829,0.001079973,0.0006551235,0.001102607,0.003125441,0.004221962],"category_scores_gemma":[0.001491381,0.0006599639,0.00107255,0.0005797365,0.001513149,0.0004800258,0.001816295,0.002061554,0.001196514],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005911593,"about_ca_system_score_gemma":0.0005206373,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00269967,"about_ca_topic_score_gemma":0.002483258,"domain_scores_codex":[0.9990274,0.00007993261,0.0001127247,0.0003656457,0.0002701801,0.0001440123],"domain_scores_gemma":[0.9990512,0.0002161107,0.0002157347,0.00007796199,0.00008833325,0.0003507298],"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":[0.0002676633,0.0001948197,0.02329701,0.0001406743,0.0001282555,0.8826517,0.00121669,0.0001675336,0.08195658,0.0007934418,0.001736281,0.00744939],"study_design_scores_gemma":[0.0000442876,0.0003316427,0.03876017,0.0000487199,0.00008167377,0.9378979,0.0004170812,0.0005322215,0.01717824,0.0003525937,0.004294939,0.00006046531],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9908467,0.0006032076,0.003155079,0.0007474485,0.0002581163,0.0001549622,0.0008902222,0.0001758871,0.003168437],"genre_scores_gemma":[0.9911384,0.0003982006,0.002713323,0.0004592138,0.0001381326,0.00006257902,0.0006399382,0.0001150401,0.004335185],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004221962,"threshold_uncertainty_score":0.01412392,"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."}}