{"id":"W4412788259","doi":"10.1111/liv.70251","title":"Phenotypic Divergence of <i>JAG1</i> ‐ and <i>NOTCH2</i> ‐Associated Alagille Syndrome &amp; Disease‐Specific <i>NOTCH2</i> Variant Classification Guidelines","year":2025,"lang":"en","type":"article","venue":"Liver International","topic":"Pediatric Hepatobiliary Diseases and Treatments","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Institute of Health Services and Policy Research; Children's Hospital of Eastern Ontario; University of Manitoba; Western University; Hospital for Sick Children; Toronto General Hospital; University Health Network; University of Toronto; Children's Hospital of Western Ontario; London Health Sciences Centre","funders":"University of Colorado School of Medicine, Anschutz Medical Campus; National Institute of Diabetes and Digestive and Kidney Diseases; School of Medicine, Emory University; National Institutes of Health; Ipsen; Cliniques Universitaires Saint-Luc; Universität Innsbruck; Université Paris-Saclay; Hospital for Sick Children; School of Medicine, Stanford University; Fudan University; Perelman School of Medicine, University of Pennsylvania; University of Ulsan; Audentes Therapeutics; Ludwig-Maximilians-Universität München; Horizon Pharmaceuticals; Ipsen Biopharmaceuticals; Alexion Pharmaceuticals; Yale University; Virginia Commonwealth University; National Natural Science Foundation of China; Alagille Syndrome Alliance; University of Pittsburgh; Medizinische Universität Innsbruck; Children's Healthcare of Atlanta; Sarepta Therapeutics; University of Pennsylvania; Seattle Children's Research Institute; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Karolinska Institutet; Institut National de la Santé et de la Recherche Médicale; Assistance publique-Hôpitaux de Paris; University of Minnesota; Emory University; National Center for Child Health and Development; Children's Hospital of Philadelphia","keywords":"JAG1; Alagille syndrome; Haploinsufficiency; Biology; Cohort; Phenotype; Disease; Genetics; Notch signaling pathway; Medicine; Internal medicine; Gene; Endocrinology","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":[0.003158132,0.0004692589,0.0004726491,0.002887005,0.0004095144,0.00108458,0.001251801,0.0005587967,0.00114526],"category_scores_gemma":[0.006020896,0.0001204767,0.0006412159,0.001388722,0.0005392071,0.0004081135,0.0009980486,0.0005769699,0.000621964],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000577084,"about_ca_system_score_gemma":0.0007086938,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003294951,"about_ca_topic_score_gemma":0.003903588,"domain_scores_codex":[0.9976658,0.0005043395,0.0007749835,0.0004219232,0.0004905028,0.0001426232],"domain_scores_gemma":[0.9960516,0.001068649,0.0007420576,0.000253668,0.001492094,0.0003919135],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0006661482,0.00008461931,0.8535705,0.0004631218,0.0002619246,0.001640689,0.001005677,0.00114731,0.0112607,0.001551716,0.01525204,0.1130956],"study_design_scores_gemma":[0.0001268779,0.0005588763,0.9304654,0.0008404438,0.0004056639,0.02238126,0.001572124,0.004376262,0.007530896,0.002855532,0.02878829,0.00009836785],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"methods","genre_scores_codex":[0.925393,0.01372608,0.02922122,0.002901831,0.0003243433,0.0003882329,0.01002079,0.0005757944,0.01744882],"genre_scores_gemma":[0.9436009,0.003808976,0.03409466,0.0007093012,0.0001035547,0.0003942639,0.0153246,0.0002140933,0.001749641],"genre_candidate":"methods","genre_consensus":null,"teacher_disagreement_score":0.003294951,"threshold_uncertainty_score":0.016702,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04470162529316228,"score_gpt":0.3034789830791866,"score_spread":0.2587773577860243,"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."}}