{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T03:32:06Z","timestamp":1787110326418,"version":"build-2736575974"},"reference-count":55,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:00:00Z","timestamp":1787011200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:00:00Z","timestamp":1787011200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Alagille syndrome (ALGS) is a rare, typically multisystem genetic disorder that impacts the liver, heart, eyes, vertebrae, and other areas of development. A clinical diagnosis can be established through defined clinical diagnostic criteria, while a molecular diagnosis requires the presence of a heterozygous pathogenic variant in\n                    <jats:italic>JAG1<\/jats:italic>\n                    or\n                    <jats:italic>NOTCH2<\/jats:italic>\n                    detected through molecular genetic testing. Disruption of either gene product results in disrupted Notch signaling pathways, resulting in the broad spectrum of clinical manifestations. The estimated incidence of ALGS is approximately 1 in 30,000\u201370,000 newborns. Here, we present a case report of a female neonate that presented at birth to the cardiothoracic intensive care unit with critical congenital heart disease (CHD), specifically, Tetralogy of Fallot (ToF). The patient and her parents were enrolled in a translational genomics protocol, COURAGE for Kids, aimed at performing research genome sequencing (GS) on neonates with critical CHD, in a phenotype\u2010agnostic manner, to characterize genetic associations with disease and longitudinal outcomes. This family's GS uncovered a paternally inherited heterozygous missense variant in\n                    <jats:italic>JAG1<\/jats:italic>\n                    (NM_000214.3:c.806C&gt;T:p.Pro269Leu), which is associated with ALGS type 1 (MIM #118450). Segregation analysis revealed that the proband's paternal grandfather, who also had ToF as a child, carries the same familial variant. A subsequent dysmorphology assessment revealed typical ALGS facial features in the proband, as well as her father, who does not have a history of CHD (prominent forehead, deeply set eyes, wide nasal bridge, bulbous nose, and pointed chin). Thus, this variant is likely causing incomplete ALGS in the proband, father, and paternal grandfather. This variant may have also contributed to vascular events that have occurred within this family, an important example of how an uncovered molecular diagnosis can guide care even for isolated disease. We report a familial\n                    <jats:italic>JAG1<\/jats:italic>\n                    variant (p.Pro269Leu) in a family with incomplete ALGS presenting as isolated ToF. Given the proband's clinical features alone were not suspicious of a molecular diagnosis of ALGS or other multisystem genetic disorder, this case underscores the potential importance of phenotype\u2010agnostic genetic workup for critical CHD in the neonatal setting.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70266","type":"journal-article","created":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T03:22:53Z","timestamp":1787109773000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Familial Isolated Tetralogy of Fallot Associated With\n                    <scp>\n                      <i>JAG1<\/i>\n                    <\/scp>\n                    Variant: Justifying Phenotype\u2010Agnostic Genetic Workup for Critical Congenital Heart Disease"],"prefix":"10.1002","author":[{"given":"Ava","family":"Willoughby","sequence":"first","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine, The Abigail Wexner Research Institute, Nationwide Children's Hospital  Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8709-9159","authenticated-orcid":false,"given":"Umamaheswaran","family":"Gurusamy","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine, The Abigail Wexner Research Institute, Nationwide Children's Hospital  Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Blythe","family":"Moreland","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine, The Abigail Wexner Research Institute, Nationwide Children's Hospital  Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying\u2010Chen Claire","family":"Hou","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine, The Abigail Wexner Research Institute, Nationwide Children's Hospital  Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad","family":"Marhabaie","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine, The Abigail Wexner Research Institute, Nationwide Children's Hospital  Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Swetha","family":"Ramadesikan","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine, The Abigail Wexner Research Institute, Nationwide Children's Hospital  Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3168-8114","authenticated-orcid":false,"given":"Iftekhar A.","family":"Showpnil","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine, The Abigail Wexner Research Institute, Nationwide Children's Hospital  Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0115-949X","authenticated-orcid":false,"given":"Bimal P.","family":"Chaudhari","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine, The Abigail Wexner Research Institute, Nationwide Children's Hospital  Columbus Ohio USA"},{"name":"Division of Genetic and Genomic Medicine Nationwide Children's Hospital  Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Varga","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine, The Abigail Wexner Research Institute, Nationwide Children's Hospital  Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine R.","family":"Mardis","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine, The Abigail Wexner Research Institute, Nationwide Children's Hospital  Columbus Ohio USA"},{"name":"Department of Pediatrics The Ohio State University College of Medicine  Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard K.","family":"Wilson","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine, The Abigail Wexner Research Institute, Nationwide Children's Hospital  Columbus Ohio USA"},{"name":"Department of Pediatrics The Ohio State University College of Medicine  Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kandamurugu","family":"Manickam","sequence":"additional","affiliation":[{"name":"Division of Genetic and Genomic Medicine Nationwide Children's Hospital  Columbus Ohio USA"},{"name":"Department of Pediatrics The Ohio State University College of Medicine  Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3204-3067","authenticated-orcid":false,"given":"Daniel C.","family":"Koboldt","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine, The Abigail Wexner Research Institute, Nationwide Children's Hospital  Columbus Ohio USA"},{"name":"Department of Pediatrics The Ohio State University College of Medicine  Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3778-5927","authenticated-orcid":false,"given":"Vidu","family":"Garg","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The Ohio State University College of Medicine  Columbus Ohio USA"},{"name":"Center for Cardiovascular Research, Nationwide Children's Hospital  Columbus Ohio USA"},{"name":"The Heart Center, Nationwide Children's Hospital  Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5218-5903","authenticated-orcid":false,"given":"Peter","family":"White","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine, The Abigail Wexner Research Institute, Nationwide Children's Hospital  Columbus Ohio USA"},{"name":"Department of Pediatrics The Ohio State University College of Medicine  Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amee M.","family":"Bigelow","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The Ohio State University College of Medicine  Columbus Ohio USA"},{"name":"The Heart Center, Nationwide Children's Hospital  Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,8,18]]},"reference":[{"issue":"7","key":"e_1_2_12_2_1","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1007\/s12098-014-1684-0","article-title":"Genetic Diagnosis in an Indian Child With Alagille Syndrome","volume":"82","author":"Agrawal S.","year":"2015","journal-title":"Indian Journal of Pediatrics"},{"issue":"10","key":"e_1_2_12_3_1","doi-asserted-by":"crossref","first-page":"392","DOI":"10.3345\/kjp.2015.58.10.392","article-title":"Alagille Syndrome and a JAG1 Mutation: 41 Cases of Experience at a Single Center","volume":"8","author":"Ahn K. J.","year":"2015","journal-title":"Korean Journal of Pediatrics"},{"issue":"12","key":"e_1_2_12_4_1","doi-asserted-by":"crossref","first-page":"3090","DOI":"10.1002\/ajmg.a.37891","article-title":"Utility of Genetic Evaluation in Infants With Congenital Heart Defects Admitted to the Cardiac Intensive Care Unit","volume":"170","author":"Ahrens\u2010Nicklas R. C.","year":"2016","journal-title":"American Journal of Medical Genetics \u2010 Seminars in Medical Genetics, Part A"},{"issue":"3","key":"e_1_2_12_5_1","first-page":"e338","article-title":"JAG1 and THBS2 Mutations in a Child Presenting With Incomplete Alagille Syndrome","volume":"4","author":"Almes M.","year":"2023","journal-title":"Journal of Pediatric Gastroenterology and Nutrition Reports"},{"issue":"5","key":"e_1_2_12_6_1","doi-asserted-by":"crossref","first-page":"594","DOI":"10.1002\/humu.21231","article-title":"Jagged1 (JAG1) Mutations in Patients With Tetralogy of Fallot or Pulmonic Stenosis","volume":"31","author":"Bauer R. C.","year":"2010","journal-title":"Human Mutation"},{"key":"e_1_2_12_7_1","doi-asserted-by":"crossref","DOI":"10.1155\/cric\/5884548","article-title":"Syndromic Congenital Heart Disease Diagnosed in Adulthood: A Reminder of the Phenotypic Variability of Alagille Syndrome","volume":"2026","author":"Campbell K. M.","year":"2026","journal-title":"Case Reports in Cardiology"},{"issue":"6","key":"e_1_2_12_8_1","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1016\/j.cjcpc.2023.10.008","article-title":"Uncovering the Genetic Basis of Congenital Heart Disease: Recent Advancements and Implications for Clinical Management","volume":"2","author":"Chhatwal K.","year":"2023","journal-title":"CJC Pediatric and Congenital Heart Disease"},{"issue":"2","key":"e_1_2_12_9_1","doi-asserted-by":"crossref","first-page":"80","DOI":"10.4161\/fly.19695","article-title":"A Program for Annotating and Predicting the Effects of Single Nucleotide Polymorphisms, SnpEff","volume":"6","author":"Cingolani P.","year":"2012","journal-title":"Fly"},{"issue":"5","key":"e_1_2_12_10_1","doi-asserted-by":"crossref","first-page":"1141","DOI":"10.1016\/S0016-5085(99)70017-X","article-title":"Mutations in JAGGED1 Gene Are Predominantly Sporadic in Alagille Syndrome","volume":"116","author":"Crosnier C.","year":"1999","journal-title":"Gastroenterology"},{"issue":"12","key":"e_1_2_12_11_1","doi-asserted-by":"crossref","first-page":"926","DOI":"10.1136\/heartjnl-2018-314115","article-title":"Aortic Disease and Interventions in Adults With Tetralogy of Fallot","volume":"105","author":"Egbe A. C.","year":"2019","journal-title":"Heart"},{"issue":"2","key":"e_1_2_12_12_1","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1093\/hmg\/10.2.163","article-title":"Familial Tetralogy of Fallot Caused by Mutation in the jagged1 Gene","volume":"10","author":"Eldadah Z. A.","year":"2001","journal-title":"Human Molecular Genetics"},{"issue":"1","key":"e_1_2_12_13_1","doi-asserted-by":"crossref","first-page":"1812","DOI":"10.1038\/s41598-024-52357-0","article-title":"Novel JAG1 Variants Leading to Alagille Syndrome in Two Chinese Cases","volume":"14","author":"Feng X.","year":"2024","journal-title":"Scientific Reports"},{"issue":"3","key":"e_1_2_12_14_1","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1038\/sj.ejhg.5200613","article-title":"Parental Mosaicism of JAG1 Mutations in Families With Alagille Syndrome","volume":"9","author":"Giannakudis J.","year":"2001","journal-title":"European Journal of Human Genetics"},{"issue":"1","key":"e_1_2_12_15_1","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1111\/j.1399-0004.2011.01749.x","article-title":"JAG1 Mutations Are Found in Approximately One Third of Patients Presenting With Only One or Two Clinical Features of Alagille Syndrome","volume":"82","author":"Guegan K.","year":"2012","journal-title":"Clinical Genetics"},{"issue":"6","key":"e_1_2_12_16_1","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1111\/j.1399-0004.2011.01710.x","article-title":"Novel and Recurrent JAG1 Mutations in Patients With Tetralogy of Fallot","volume":"80","author":"Guida V.","year":"2011","journal-title":"Clinical Genetics"},{"issue":"2","key":"e_1_2_12_17_1","first-page":"350","article-title":"New JAG1 Mutation Causing Alagille Syndrome Presenting With Severe Hypercholesterolemia: Case Report With Emphasis on Genetics and Lipid Abnormalities","volume":"102","author":"Hannoush Z.","year":"2017","journal-title":"Journal of Clinical Endocrinology & Metabolism"},{"issue":"11","key":"e_1_2_12_18_1","doi-asserted-by":"crossref","first-page":"e70040","DOI":"10.1002\/mgg3.70040","article-title":"Performance of Dysmorphology\u2010Based Screening for Genetic Disorders in Pediatric Congenital Heart Disease Supports Wider Genetic Testing","volume":"12","author":"Helm B. M.","year":"2024","journal-title":"Molecular Genetics & Genomic Medicine"},{"issue":"8","key":"e_1_2_12_19_1","doi-asserted-by":"crossref","first-page":"1244","DOI":"10.3390\/genes12081244","article-title":"Genetic Evaluation of Inpatient Neonatal and Infantile Congenital Heart Defects: New Findings and Review of the Literature","volume":"12","author":"Helm B. M.","year":"2021","journal-title":"Genes"},{"issue":"5","key":"e_1_2_12_20_1","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1002\/1098-1004(200011)16:5<408::AID-HUMU5>3.0.CO;2-9","article-title":"Jagged1 (JAG1) Mutation Detection in an Australian Alagille Syndrome Population","volume":"16","author":"Heritage M. L.","year":"2000","journal-title":"Human Mutation"},{"issue":"6","key":"e_1_2_12_21_1","doi-asserted-by":"crossref","first-page":"1955","DOI":"10.1073\/pnas.0709663105","article-title":"Endothelial Expression of the Notch Ligand Jagged1 Is Required for Vascular Smooth Muscle Development","volume":"105","author":"High F. A.","year":"2008","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"issue":"6","key":"e_1_2_12_22_1","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1016\/j.ajhg.2016.04.003","article-title":"Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants","volume":"98","author":"Jarvik G. P.","year":"2016","journal-title":"American Journal of Human Genetics"},{"issue":"12","key":"e_1_2_12_23_1","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1136\/jmg.40.12.891","article-title":"Consequences of JAG1 Mutations","volume":"40","author":"Kamath B. M.","year":"2003","journal-title":"Journal of Medical Genetics"},{"issue":"11","key":"e_1_2_12_24_1","doi-asserted-by":"crossref","first-page":"1354","DOI":"10.1161\/01.CIR.0000121361.01862.A4","article-title":"Vascular Anomalies in Alagille Syndrome: A Significant Cause of Morbidity and Mortality","volume":"109","author":"Kamath B. M.","year":"2004","journal-title":"Circulation"},{"issue":"1","key":"e_1_2_12_25_1","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1186\/s13059-014-0577-x","article-title":"Churchill: An Ultra\u2010Fast, Deterministic, Highly Scalable, and Balanced Parallelization Strategy for the Discovery of Human Genetic Variation in Clinical and Population\u2010Scale Genomics","volume":"16","author":"Kelly B. J.","year":"2015","journal-title":"Genome Biology"},{"issue":"3","key":"e_1_2_12_26_1","doi-asserted-by":"crossref","first-page":"260","DOI":"10.3350\/cmh.2016.0057","article-title":"A Case of Alagille Syndrome Presenting With Chronic Cholestasis in an Adult","volume":"23","author":"Kim J.","year":"2017","journal-title":"Clinical and Molecular Hepatology"},{"issue":"3","key":"e_1_2_12_27_1","doi-asserted-by":"crossref","first-page":"a002410","DOI":"10.1101\/mcs.a002410","article-title":"A De Novo Nonsense Mutation in ASXL3\u2009Shared by Siblings With Bainbridge\u2013Ropers Syndrome","volume":"4","author":"Koboldt D. C.","year":"2018","journal-title":"Molecular Case Studies"},{"issue":"3","key":"e_1_2_12_28_1","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1101\/gr.129684.111","article-title":"VarScan2: Somatic Mutation and Copy Number Alteration Discovery in Cancer by Exome Sequencing","volume":"22","author":"Koboldt D. C.","year":"2012","journal-title":"Genome Research"},{"issue":"23","key":"e_1_2_12_29_1","doi-asserted-by":"crossref","first-page":"2232","DOI":"10.1016\/j.cca.2011.08.017","article-title":"Mutational Analysis of JAG1 Gene in Non\u2010Syndromic Tetralogy of Fallot Children","volume":"412","author":"Kola S.","year":"2011","journal-title":"Clinica Chimica Acta"},{"issue":"6","key":"e_1_2_12_30_1","doi-asserted-by":"crossref","first-page":"1361","DOI":"10.1086\/301875","article-title":"Spectrum and Frequency of jagged1 (JAG1) Mutations in Alagille Syndrome Patients and Their Families","volume":"62","author":"Krantz I. D.","year":"1998","journal-title":"American Journal of Human Genetics"},{"issue":"1","key":"e_1_2_12_31_1","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1002\/(SICI)1096-8628(19990507)84:1<56::AID-AJMG11>3.0.CO;2-W","article-title":"Jagged1 Mutations in Patients Ascertainedwith Isolated Congenital Heart Defects","volume":"84","author":"Krantz I. D.","year":"1999","journal-title":"American Journal of Medical Genetics"},{"issue":"1","key":"e_1_2_12_32_1","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1086\/341327","article-title":"Familial Deafness, Congenital Heart Defects, and Posterior Embryotoxon Caused by Cysteine Substitution in the First Epidermal\u2010Growth\u2010Factor\u2010Like Domain of Jagged 1","volume":"71","author":"Le Caignec C.","year":"2002","journal-title":"American Journal of Human Genetics"},{"issue":"6","key":"e_1_2_12_33_1","doi-asserted-by":"crossref","first-page":"e0130355","DOI":"10.1371\/journal.pone.0130355","article-title":"JAG1 Mutation Spectrum and Origin in Chinese Children With Clinical Features of Alagille Syndrome","volume":"10","author":"Li L.","year":"2015","journal-title":"PLoS One"},{"issue":"3","key":"e_1_2_12_34_1","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1038\/ng0797-243","article-title":"Alagille Syndrome Is Caused by Mutations in Human Jagged1, Which Encodes a Ligand for Notch1","volume":"16","author":"Li L.","year":"1997","journal-title":"Nature Genetics"},{"issue":"5","key":"e_1_2_12_35_1","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1002\/ajmg.a.35255","article-title":"Alagille Syndrome in a Vietnamese Cohort: Mutation Analysis and Assessment of Facial Features","volume":"158","author":"Lin H. C.","year":"2012","journal-title":"American Journal of Medical Genetics. Part A"},{"issue":"20","key":"e_1_2_12_36_1","doi-asserted-by":"crossref","first-page":"2567","DOI":"10.1161\/01.CIR.0000037221.45902.69","article-title":"Analysis of Cardiovascular Phenotype and Genotype\u2010Phenotype Correlation in Individuals With a JAG1 Mutation and\/or Alagille Syndrome","volume":"106","author":"McElhinney D. B.","year":"2002","journal-title":"Circulation"},{"issue":"24","key":"e_1_2_12_37_1","doi-asserted-by":"crossref","first-page":"6247","DOI":"10.3390\/ijms20246247","article-title":"Novel JAG1 Deletion Variant With Atypical Alagille Syndrome","volume":"20","author":"Micaglio E.","year":"2019","journal-title":"International Journal of Molecular Sciences"},{"issue":"4","key":"e_1_2_12_38_1","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1016\/j.cld.2018.06.001","article-title":"Alagille Syndrome","volume":"22","author":"Mitchell E.","year":"2018","journal-title":"Clinics in Liver Disease"},{"key":"e_1_2_12_39_1","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1038\/ng0797-235","article-title":"Mutations in the Human Jagged1 Gene Are Responsible for Alagille Syndrome","volume":"16","author":"Oda T.","year":"1997","journal-title":"Nature Genetics"},{"issue":"11","key":"e_1_2_12_40_1","doi-asserted-by":"crossref","first-page":"1817","DOI":"10.1111\/apa.13981","article-title":"Combined Genetic Analyses Can Achieve Efficient Diagnostic Yields for Subjects With Alagille Syndrome and Incomplete Alagille Syndrome","volume":"106","author":"Ohashi K.","year":"2017","journal-title":"Acta Paediatrica"},{"issue":"12","key":"e_1_2_12_41_1","doi-asserted-by":"crossref","first-page":"2163","DOI":"10.1016\/j.ajhg.2022.10.013","article-title":"ClinGen Sequence Variant Interpretation Working Group. Calibration of Computational Tools for Missense Variant Pathogenicity Classification and ClinGen Recommendations for PP3\/BP4 Criteria","volume":"109","author":"Pejaver V.","year":"2022","journal-title":"American Journal of Human Genetics"},{"issue":"12","key":"e_1_2_12_42_1","doi-asserted-by":"crossref","first-page":"e70423","DOI":"10.1111\/liv.70423","article-title":"Elevated Serum Bile Acids Predict Poor Liver Outcomes in Children With Alagille Syndrome: Results From the GALA Study Group","volume":"45","author":"Perez C. F. M.","year":"2025","journal-title":"Liver International"},{"issue":"5","key":"e_1_2_12_43_1","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1002\/(SICI)1098-1004(199911)14:5<394::AID-HUMU5>3.0.CO;2-1","article-title":"Jagged\u20101 Mutation Analysis in Italian Alagille Syndrome Patients","volume":"14","author":"Pilia G.","year":"1999","journal-title":"Human Mutation"},{"issue":"6","key":"e_1_2_12_44_1","doi-asserted-by":"crossref","first-page":"983","DOI":"10.3390\/diagnostics11060983","article-title":"Two Novel Mutations in the\u2009JAG1\u2009Gene in Pediatric Patients With Alagille Syndrome: The First Case Series in Czech Republic","volume":"11","author":"Proch\u00e1zkov\u00e1 D.","year":"2021","journal-title":"Diagnostics"},{"issue":"1","key":"e_1_2_12_45_1","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1186\/s12967-017-1173-0","article-title":"Multiple Gene Variations Contributed to Congenital Heart Disease via GATA Family Transcriptional Regulation","volume":"15","author":"Qian Y.","year":"2017","journal-title":"Journal of Translational Medicine"},{"issue":"5","key":"e_1_2_12_46_1","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1136\/jmg.2009.070391","article-title":"Comprehensive Genotype\u2010Phenotype Analysis in 230 Patients With Tetralogy of Fallot","volume":"47","author":"Rauch R.","year":"2010","journal-title":"Journal of Medical Genetics"},{"issue":"5","key":"e_1_2_12_47_1","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"ACMG Laboratory Quality Assurance Committee. 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