{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001231568,0.0001969396,0.0002874244,0.000174842,0.00008656579,0.0000264612,0.000187625,0.00008221973,0.000300126],"category_scores_gemma":[0.0002149855,0.000179188,0.0001455033,0.0002819704,0.0000980218,0.0001451414,0.0001369135,0.0001028387,0.00006585002],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001374939,"about_ca_system_score_gemma":0.0001679437,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001379814,"about_ca_topic_score_gemma":0.00001264464,"domain_scores_codex":[0.998365,0.00004309865,0.000513971,0.0004278336,0.0004558467,0.0001942423],"domain_scores_gemma":[0.9987389,0.0001022126,0.0001778742,0.0003162763,0.0004780566,0.0001866859],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004843313,0.001370196,0.9302552,0.0001348876,0.0007288482,0.0002027135,0.00004829644,0.00002155918,0.0008561026,0.006945597,0.05251216,0.006440154],"study_design_scores_gemma":[0.002322426,0.00006208873,0.9371127,0.0002773391,0.000517548,0.00002986504,0.00002562042,0.001828088,0.00007085724,0.001305301,0.05624482,0.0002033264],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9782333,0.004935773,0.0016923,0.004766505,0.001101081,0.0005970061,0.0008559649,0.0001110167,0.00770708],"genre_scores_gemma":[0.9880599,0.003442342,0.0007757777,0.0008074665,0.00009532487,0.00004231522,0.0006095284,0.0000150739,0.006152302],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.009826597,"threshold_uncertainty_score":0.7307073,"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."}}