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Phenotypic Divergence of JAG1- and NOTCH2-Associated Alagille Syndrome & Disease-Specific NOTCH2 Variant Classification Guidelines.

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Title: Phenotypic Divergence of JAG1- and NOTCH2-Associated Alagille Syndrome & Disease-Specific NOTCH2 Variant Classification Guidelines.
Authors: Vandriel SM; Division of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children and the University of Toronto, Toronto, Canada., Li LT; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China., She H; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China., Wang JS; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China., Loomes KM; Division of Gastroenterology, Hepatology and Nutrition, The Children's Hospital of Philadelphia, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Piccoli DA; Division of Gastroenterology, Hepatology and Nutrition, The Children's Hospital of Philadelphia, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Jankowska I; Department of Gastroenterology, Hepatology, Nutrition Disturbances and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland., Czubkowski P; Department of Gastroenterology, Hepatology, Nutrition Disturbances and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland., Gliwicz-Miedzińska D; Department of Gastroenterology, Hepatology, Nutrition Disturbances and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland., D'Antiga L; Pediatric Hepatology, Gastroenterology and Transplantation, Ospedale Papa Giovanni XXIII, Bergamo, Italy.; Department of Medicine and Surgery, University of Milano - Bicocca, Milan, Italy., Nicastro E; Pediatric Hepatology, Gastroenterology and Transplantation, Ospedale Papa Giovanni XXIII, Bergamo, Italy., Lacaille F; Pediatric Gastroenterology-Nutrition and Hepatology Units, Necker-Enfants Malades Hospital, University of Paris, Paris, France., Debray D; Pediatric Liver Unit, National Reference Centre for Rare Pediatric Liver Diseases (Biliary Atresia and Genetic Cholestasis), FILFOIE, ERN RARE LIVER, Necker-Enfants Malades Hospital, University of Paris, Paris, France., Sokal ÉM; Service de Gastroentérologie & Hépatologie Pédiatrique, Cliniques Universitaires Saint-Luc, Brussels, Belgium., Demaret T; Service de Gastroentérologie & Hépatologie Pédiatrique, Cliniques Universitaires Saint-Luc, Brussels, Belgium., Fawaz RL; Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA., Nastasio S; Division of Gastroenterology, Hepatology, & Nutrition, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Kim KM; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea., Oh SH; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea., Fischler B; Department of Paediatric Gastroenterology, Hepatology and Nutrition, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden.; CLINTEC, Karolinska Institutet, ERN Rare Liver, Stockholm, Sweden., Arnell H; Department of Paediatric Gastroenterology, Hepatology and Nutrition, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden.; Department of Women's and Children's Health, Karolinska Institutet, ERN Rare Liver, Stockholm, Sweden., Larson-Nath C; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, University of Minnesota, Minneapolis, Minnesota, USA., Hardikar W; Department of Gastroenterology and Clinical Nutrition, Royal Children's Hospital, Melbourne, Australia., Shankar S; Mazumdar Shaw Medical Center, Narayana Health, Bangalore, India., Sundaram SS; Section of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics and the Digestive Health Institute, Children's Hospital of Colorado, University of Colorado School of Medicine, Aurora, Colorado, USA., Chaidez A; Section of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics and the Digestive Health Institute, Children's Hospital of Colorado, University of Colorado School of Medicine, Aurora, Colorado, USA., Bulut P; Division of Pediatric Gastroenterology and Hepatology, Phoenix Children's Hospital, Phoenix, Arizona, USA., Calvo PL; Pediatric Gastroenterology Unit, Regina Margherita Children's Hospital, Azienda Ospedaliera-Universitaria Citta' della Salute e della Scienza, Turin, Italy., Kasahara M; Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan., Blondet N; Gastroenterology and Hepatology, Seattle Children's Hospital, Seattle, Washington, USA., Lurz E; Department of Pediatrics, LMU Munich, Dr. von Hauner Children's Hospital, University Hospital, Munich, Germany., Kavallar AM; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Gonzales EM; Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for Rare Pediatric Liver Diseases, FILFOIE, ERN RARE LIVER, Bicêtre Hospital, AP-HP, University of Paris-Saclay, Le Kremlin-Bicêtre, France.; Inserm U1193, Hepatinov, University of Paris-Saclay, Orsay, France., Jacquemin E; Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for Rare Pediatric Liver Diseases, FILFOIE, ERN RARE LIVER, Bicêtre Hospital, AP-HP, University of Paris-Saclay, Le Kremlin-Bicêtre, France.; Inserm U1193, Hepatinov, University of Paris-Saclay, Orsay, France., Bouligand J; Service de Génétique Moléculaire, Pharmacogénétique et Hormonologie, Assistance Publique-Hôpitaux de Paris, Centre Hospitalier Universitaire de Bicêtre, Hôpitaux Universitaires Paris-Saclay, Le Kremlin-Bicêtre, France., Ebel NH; Division of Gastroenterology, Department of Pediatrics, Stanford University School of Medicine, Palo Alto, California, USA., Feinstein JA; Department of Pediatrics (Cardiology), Lucile Packard Children's Hospital, Stanford University School of Medicine, Palo Alto, California, USA., Siew SM; Department of Gastroenterology, The Children's Hospital at Westmead, Sydney, Australia., Stormon MO; Department of Gastroenterology, The Children's Hospital at Westmead, Sydney, Australia., Karpen SJ; Division of Pediatric Gastroenterology, Hepatology & Nutrition, Children's Healthcare of Atlanta & Emory University School of Medicine, Atlanta, Georgia, USA.; Stravitz-Sanyal Institute for Liver Disease and Metabolic Health at Virginia Commonwealth University, Richmond, Virginia, USA., Romero R; Division of Pediatric Gastroenterology, Hepatology & Nutrition, Children's Healthcare of Atlanta & Emory University School of Medicine, Atlanta, Georgia, USA., Jensen MK; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Primary Children's Hospital, University of Utah, Salt Lake City, Utah, USA., Jaramillo C; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Primary Children's Hospital, University of Utah, Salt Lake City, Utah, USA., Squires JE; Division of Pediatric Gastroenterology and Hepatology, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA., Bedoyan SM; Division of Pediatric Gastroenterology and Hepatology, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA., Kelly DA; Liver Unit, Birmingham Women's & Children's Hospital NHS Trust, University of Birmingham, Birmingham, UK., Hartley J; Liver Unit, Birmingham Women's & Children's Hospital NHS Trust, University of Birmingham, Birmingham, UK., Verkade HJ; Department of Pediatrics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Lee WS; Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Lertudomphonwanit C; Division of Gastroenterology, Department of Pediatrics, Ramathibodi Hospital Mahidol University, Bangkok, Thailand., Fischer RT; Section of Hepatology, Department of Gastroenterology, Children's Mercy Kansas City, Kansas City, Missouri, USA., Lin HC; Division of Pediatric Gastroenterology, Department of Pediatrics, Oregon Health and Science University, Portland, Oregon, USA., Rock N; Division of Pediatric Specialties, Department of Pediatrics, Gynecology, and Obstetrics, Swiss Pediatric Liver Center, University Hospitals Geneva, University of Geneva, Geneva, Switzerland., Mozer-Glassberg Y; Schneider Children's Medical Center of Israel, Institute of Gastroenterology, Nutrition and Liver Diseases, Petah Tikva, Israel., Roberts AJ; Department of Paediatric Gastroenterology, Starship Child Health, Auckland, New Zealand., Evans HM; Department of Paediatric Gastroenterology, Starship Child Health, Auckland, New Zealand., Karnsakul W; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Nebbia G; Servizio di Epatologia Pediatrica, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Wolters VM; Department of Pediatric Gastroenterology, University Medical Centre Utrecht, Utrecht, the Netherlands., Valentino PL; Gastroenterology and Hepatology, Seattle Children's Hospital, Seattle, Washington, USA., Bernabeu JQ; Pediatric Hepatology and Liver Transplant Department, Hospital Universiatri Vall d'Hebron, Barcelona, Spain.; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Fondazione IRCCS San Gerardo dei Tintori Hospital, Monza, Italy.; European Reference Network on Transplantation in Children (ERN-TransplantChild), La Paz Institute of Biomedical Research, Hospital Universitario La Paz, Madrid, Spain., Aqul AA; University of Texas Southwestern Medical Centre in Dallas and Children's Health, Dallas, Texas, USA., Arikan C; Department of Pediatric Gastroenterology and Organ Transplant, Koc University School of Medicine, Istanbul, Turkey., Tamara ML; Paediatric Gastroenterology Unit, Cruces University Hospital, Bilbao, Spain., Busoms CM; Pediatric Gastroenterology Hepatology and Nutrition Unit, Hospital Sant Joan de Déu, Esplugues de Llobregat, Spain., Sandahl TD; Department of Hepatology and Gastroenterology, Aarhus University Hospital, Aarhus, Denmark., Indolfi G; Meyer Children's Hospital IRCCS, Florence, Italy., Zizzo AN; Division of Paediatric Gastroenterology and Hepatology, London Health Sciences Centre, Children's Hospital, Western University, London, Ontario, Canada., Zellos A; Mitera Children's Hospital, Athens, Greece., Quiros-Tejeira RE; Department of Pediatrics, Children's Nebraska and University of Nebraska Medical Center, Omaha, Nebraska, USA., Santos-Silva E; Centro Materno-Infantil do Norte Albino Aroso, Centro Hospitalar Universitário de Santo António, Porto, Portugal.; UCIBIO - Applied Molecular Biosciences Unit, Biochemistry Laboratory, Department of Biological Sciences, Faculdade de Farmácia, Universidade do Porto, Porto, Portugal., Schwarz KB; Division of Pediatric Gastroenterology, Rady Children's Hospital San Diego, University of California San Diego, San Diego, California, USA., Brecelj J; Pediatric Gastroenterology, Hepatology and Nutrition, University Medical Center Ljubljana, Ljubljana, Slovenia.; Department of Pediatrics, Faculty of Medicine, University Medical Center Ljubljana, Ljubljana, Slovenia., Sanchez MC; Pediatric Gastroenterology and Hepatology Division, Hospital Italiano Buenos Aires, Buenos Aires, Argentina., Cavalieri ML; Pediatric Gastroenterology and Hepatology Division, Hospital Italiano Buenos Aires, Buenos Aires, Argentina., Tzivinikos C; Department of Paediatric Gastroenterology, Al Jalila Children's Specialty Hospital, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, UAE., Wiecek S; Department of Pediatrics, Medical University of Silesia in Katowice, Katowice, Poland., Eshun J; Department of Pediatric Gastroenterology, The University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, Tennessee, USA., Kerkar N; Massachusetts General Hospital for Children, Boston, Massachusetts, USA.; University of Rochester Medical Center, Rochester, New York, USA., Mujawar Q; Section of Pediatric Gastroenterology, Department of Pediatrics, University of Manitoba, Winnipeg, Canada., Önal Z; Pediatric Gastroenterology, Hepatology and Nutrition Department, Istanbul University Istanbul Medical Faculty, Istanbul, Turkey., Gonçalves C; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Lisbon, Portugal.; Pediatric Gastroenterology/Hepatology Center, Lisbon, Portugal., Garcia J; Division of Pediatric Gastroenterology, Hepatology and Nutrition/Miami Transplant Institute, University of Miami, Miami, Florida, USA., Alam S; Department of Pediatric Hepatology, Institute of Liver and Biliary Sciences, New Delhi, India., Jimenez-Rivera C; Division of Gastroenterology, Hepatology and Nutrition, Children's Hospital of Eastern Ontario, Ottawa, Canada., Bujanda L; Department of Hepatology and Gastroenterology, Biodonostia Health Research Institute - Donostia University Hospital, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Universidad del País Vasco (UPV/EHU), San Sebastián, Spain., Thompson RJ; Institute of Liver Studies, King's College London, London, UK., Hansen BE; Toronto General Hospital University Health Network, Toronto, Canada.; Institute of Health Policy, Management and Evaluation, Toronto, Canada., Spinner NB; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Gilbert MA; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Kamath BM; Division of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children and the University of Toronto, Toronto, Canada.; Division of Gastroenterology, Hepatology and Nutrition, The Children's Hospital of Philadelphia, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
Corporate Authors: Global ALagille Alliance (GALA) Study Group
Source: Liver international : official journal of the International Association for the Study of the Liver [Liver Int] 2025 Sep; Vol. 45 (9), pp. e70251.
Publication Type: Journal Article
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101160857 Publication Model: Print Cited Medium: Internet ISSN: 1478-3231 (Electronic) Linking ISSN: 14783223 NLM ISO Abbreviation: Liver Int Subsets: MEDLINE
Database: MEDLINE Ultimate
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DbLabel: MEDLINE Ultimate
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AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
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  Data: Phenotypic Divergence of JAG1- and NOTCH2-Associated Alagille Syndrome & Disease-Specific NOTCH2 Variant Classification Guidelines.
– Name: Author
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  Data: <searchLink fieldCode="AU" term="%22Vandriel+SM%22">Vandriel SM</searchLink>; Division of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children and the University of Toronto, Toronto, Canada.<br /><searchLink fieldCode="AU" term="%22Li+LT%22">Li LT</searchLink>; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22She+H%22">She H</searchLink>; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Wang+JS%22">Wang JS</searchLink>; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Loomes+KM%22">Loomes KM</searchLink>; Division of Gastroenterology, Hepatology and Nutrition, The Children's Hospital of Philadelphia, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Piccoli+DA%22">Piccoli DA</searchLink>; Division of Gastroenterology, Hepatology and Nutrition, The Children's Hospital of Philadelphia, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Jankowska+I%22">Jankowska I</searchLink>; Department of Gastroenterology, Hepatology, Nutrition Disturbances and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Czubkowski+P%22">Czubkowski P</searchLink>; Department of Gastroenterology, Hepatology, Nutrition Disturbances and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Gliwicz-Miedzińska+D%22">Gliwicz-Miedzińska D</searchLink>; Department of Gastroenterology, Hepatology, Nutrition Disturbances and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22D'Antiga+L%22">D'Antiga L</searchLink>; Pediatric Hepatology, Gastroenterology and Transplantation, Ospedale Papa Giovanni XXIII, Bergamo, Italy.; Department of Medicine and Surgery, University of Milano - Bicocca, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Nicastro+E%22">Nicastro E</searchLink>; Pediatric Hepatology, Gastroenterology and Transplantation, Ospedale Papa Giovanni XXIII, Bergamo, Italy.<br /><searchLink fieldCode="AU" term="%22Lacaille+F%22">Lacaille F</searchLink>; Pediatric Gastroenterology-Nutrition and Hepatology Units, Necker-Enfants Malades Hospital, University of Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Debray+D%22">Debray D</searchLink>; Pediatric Liver Unit, National Reference Centre for Rare Pediatric Liver Diseases (Biliary Atresia and Genetic Cholestasis), FILFOIE, ERN RARE LIVER, Necker-Enfants Malades Hospital, University of Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Sokal+ÉM%22">Sokal ÉM</searchLink>; Service de Gastroentérologie & Hépatologie Pédiatrique, Cliniques Universitaires Saint-Luc, Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Demaret+T%22">Demaret T</searchLink>; Service de Gastroentérologie & Hépatologie Pédiatrique, Cliniques Universitaires Saint-Luc, Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Fawaz+RL%22">Fawaz RL</searchLink>; Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.<br /><searchLink fieldCode="AU" term="%22Nastasio+S%22">Nastasio S</searchLink>; Division of Gastroenterology, Hepatology, & Nutrition, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Kim+KM%22">Kim KM</searchLink>; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Oh+SH%22">Oh SH</searchLink>; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Fischler+B%22">Fischler B</searchLink>; Department of Paediatric Gastroenterology, Hepatology and Nutrition, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden.; CLINTEC, Karolinska Institutet, ERN Rare Liver, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Arnell+H%22">Arnell H</searchLink>; Department of Paediatric Gastroenterology, Hepatology and Nutrition, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden.; Department of Women's and Children's Health, Karolinska Institutet, ERN Rare Liver, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Larson-Nath+C%22">Larson-Nath C</searchLink>; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, University of Minnesota, Minneapolis, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Hardikar+W%22">Hardikar W</searchLink>; Department of Gastroenterology and Clinical Nutrition, Royal Children's Hospital, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Shankar+S%22">Shankar S</searchLink>; Mazumdar Shaw Medical Center, Narayana Health, Bangalore, India.<br /><searchLink fieldCode="AU" term="%22Sundaram+SS%22">Sundaram SS</searchLink>; Section of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics and the Digestive Health Institute, Children's Hospital of Colorado, University of Colorado School of Medicine, Aurora, Colorado, USA.<br /><searchLink fieldCode="AU" term="%22Chaidez+A%22">Chaidez A</searchLink>; Section of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics and the Digestive Health Institute, Children's Hospital of Colorado, University of Colorado School of Medicine, Aurora, Colorado, USA.<br /><searchLink fieldCode="AU" term="%22Bulut+P%22">Bulut P</searchLink>; Division of Pediatric Gastroenterology and Hepatology, Phoenix Children's Hospital, Phoenix, Arizona, USA.<br /><searchLink fieldCode="AU" term="%22Calvo+PL%22">Calvo PL</searchLink>; Pediatric Gastroenterology Unit, Regina Margherita Children's Hospital, Azienda Ospedaliera-Universitaria Citta' della Salute e della Scienza, Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Kasahara+M%22">Kasahara M</searchLink>; Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Blondet+N%22">Blondet N</searchLink>; Gastroenterology and Hepatology, Seattle Children's Hospital, Seattle, Washington, USA.<br /><searchLink fieldCode="AU" term="%22Lurz+E%22">Lurz E</searchLink>; Department of Pediatrics, LMU Munich, Dr. von Hauner Children's Hospital, University Hospital, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Kavallar+AM%22">Kavallar AM</searchLink>; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria.<br /><searchLink fieldCode="AU" term="%22Gonzales+EM%22">Gonzales EM</searchLink>; Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for Rare Pediatric Liver Diseases, FILFOIE, ERN RARE LIVER, Bicêtre Hospital, AP-HP, University of Paris-Saclay, Le Kremlin-Bicêtre, France.; Inserm U1193, Hepatinov, University of Paris-Saclay, Orsay, France.<br /><searchLink fieldCode="AU" term="%22Jacquemin+E%22">Jacquemin E</searchLink>; Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for Rare Pediatric Liver Diseases, FILFOIE, ERN RARE LIVER, Bicêtre Hospital, AP-HP, University of Paris-Saclay, Le Kremlin-Bicêtre, France.; Inserm U1193, Hepatinov, University of Paris-Saclay, Orsay, France.<br /><searchLink fieldCode="AU" term="%22Bouligand+J%22">Bouligand J</searchLink>; Service de Génétique Moléculaire, Pharmacogénétique et Hormonologie, Assistance Publique-Hôpitaux de Paris, Centre Hospitalier Universitaire de Bicêtre, Hôpitaux Universitaires Paris-Saclay, Le Kremlin-Bicêtre, France.<br /><searchLink fieldCode="AU" term="%22Ebel+NH%22">Ebel NH</searchLink>; Division of Gastroenterology, Department of Pediatrics, Stanford University School of Medicine, Palo Alto, California, USA.<br /><searchLink fieldCode="AU" term="%22Feinstein+JA%22">Feinstein JA</searchLink>; Department of Pediatrics (Cardiology), Lucile Packard Children's Hospital, Stanford University School of Medicine, Palo Alto, California, USA.<br /><searchLink fieldCode="AU" term="%22Siew+SM%22">Siew SM</searchLink>; Department of Gastroenterology, The Children's Hospital at Westmead, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Stormon+MO%22">Stormon MO</searchLink>; Department of Gastroenterology, The Children's Hospital at Westmead, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Karpen+SJ%22">Karpen SJ</searchLink>; Division of Pediatric Gastroenterology, Hepatology & Nutrition, Children's Healthcare of Atlanta & Emory University School of Medicine, Atlanta, Georgia, USA.; Stravitz-Sanyal Institute for Liver Disease and Metabolic Health at Virginia Commonwealth University, Richmond, Virginia, USA.<br /><searchLink fieldCode="AU" term="%22Romero+R%22">Romero R</searchLink>; Division of Pediatric Gastroenterology, Hepatology & Nutrition, Children's Healthcare of Atlanta & Emory University School of Medicine, Atlanta, Georgia, USA.<br /><searchLink fieldCode="AU" term="%22Jensen+MK%22">Jensen MK</searchLink>; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Primary Children's Hospital, University of Utah, Salt Lake City, Utah, USA.<br /><searchLink fieldCode="AU" term="%22Jaramillo+C%22">Jaramillo C</searchLink>; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Primary Children's Hospital, University of Utah, Salt Lake City, Utah, USA.<br /><searchLink fieldCode="AU" term="%22Squires+JE%22">Squires JE</searchLink>; Division of Pediatric Gastroenterology and Hepatology, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Bedoyan+SM%22">Bedoyan SM</searchLink>; Division of Pediatric Gastroenterology and Hepatology, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Kelly+DA%22">Kelly DA</searchLink>; Liver Unit, Birmingham Women's & Children's Hospital NHS Trust, University of Birmingham, Birmingham, UK.<br /><searchLink fieldCode="AU" term="%22Hartley+J%22">Hartley J</searchLink>; Liver Unit, Birmingham Women's & Children's Hospital NHS Trust, University of Birmingham, Birmingham, UK.<br /><searchLink fieldCode="AU" term="%22Verkade+HJ%22">Verkade HJ</searchLink>; Department of Pediatrics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Lee+WS%22">Lee WS</searchLink>; Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.<br /><searchLink fieldCode="AU" term="%22Lertudomphonwanit+C%22">Lertudomphonwanit C</searchLink>; Division of Gastroenterology, Department of Pediatrics, Ramathibodi Hospital Mahidol University, Bangkok, Thailand.<br /><searchLink fieldCode="AU" term="%22Fischer+RT%22">Fischer RT</searchLink>; Section of Hepatology, Department of Gastroenterology, Children's Mercy Kansas City, Kansas City, Missouri, USA.<br /><searchLink fieldCode="AU" term="%22Lin+HC%22">Lin HC</searchLink>; Division of Pediatric Gastroenterology, Department of Pediatrics, Oregon Health and Science University, Portland, Oregon, USA.<br /><searchLink fieldCode="AU" term="%22Rock+N%22">Rock N</searchLink>; Division of Pediatric Specialties, Department of Pediatrics, Gynecology, and Obstetrics, Swiss Pediatric Liver Center, University Hospitals Geneva, University of Geneva, Geneva, Switzerland.<br /><searchLink fieldCode="AU" term="%22Mozer-Glassberg+Y%22">Mozer-Glassberg Y</searchLink>; Schneider Children's Medical Center of Israel, Institute of Gastroenterology, Nutrition and Liver Diseases, Petah Tikva, Israel.<br /><searchLink fieldCode="AU" term="%22Roberts+AJ%22">Roberts AJ</searchLink>; Department of Paediatric Gastroenterology, Starship Child Health, Auckland, New Zealand.<br /><searchLink fieldCode="AU" term="%22Evans+HM%22">Evans HM</searchLink>; Department of Paediatric Gastroenterology, Starship Child Health, Auckland, New Zealand.<br /><searchLink fieldCode="AU" term="%22Karnsakul+W%22">Karnsakul W</searchLink>; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Nebbia+G%22">Nebbia G</searchLink>; Servizio di Epatologia Pediatrica, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Wolters+VM%22">Wolters VM</searchLink>; Department of Pediatric Gastroenterology, University Medical Centre Utrecht, Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Valentino+PL%22">Valentino PL</searchLink>; Gastroenterology and Hepatology, Seattle Children's Hospital, Seattle, Washington, USA.<br /><searchLink fieldCode="AU" term="%22Bernabeu+JQ%22">Bernabeu JQ</searchLink>; Pediatric Hepatology and Liver Transplant Department, Hospital Universiatri Vall d'Hebron, Barcelona, Spain.; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Fondazione IRCCS San Gerardo dei Tintori Hospital, Monza, Italy.; European Reference Network on Transplantation in Children (ERN-TransplantChild), La Paz Institute of Biomedical Research, Hospital Universitario La Paz, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Aqul+AA%22">Aqul AA</searchLink>; University of Texas Southwestern Medical Centre in Dallas and Children's Health, Dallas, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Arikan+C%22">Arikan C</searchLink>; Department of Pediatric Gastroenterology and Organ Transplant, Koc University School of Medicine, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Tamara+ML%22">Tamara ML</searchLink>; Paediatric Gastroenterology Unit, Cruces University Hospital, Bilbao, Spain.<br /><searchLink fieldCode="AU" term="%22Busoms+CM%22">Busoms CM</searchLink>; Pediatric Gastroenterology Hepatology and Nutrition Unit, Hospital Sant Joan de Déu, Esplugues de Llobregat, Spain.<br /><searchLink fieldCode="AU" term="%22Sandahl+TD%22">Sandahl TD</searchLink>; Department of Hepatology and Gastroenterology, Aarhus University Hospital, Aarhus, Denmark.<br /><searchLink fieldCode="AU" term="%22Indolfi+G%22">Indolfi G</searchLink>; Meyer Children's Hospital IRCCS, Florence, Italy.<br /><searchLink fieldCode="AU" term="%22Zizzo+AN%22">Zizzo AN</searchLink>; Division of Paediatric Gastroenterology and Hepatology, London Health Sciences Centre, Children's Hospital, Western University, London, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Zellos+A%22">Zellos A</searchLink>; Mitera Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Quiros-Tejeira+RE%22">Quiros-Tejeira RE</searchLink>; Department of Pediatrics, Children's Nebraska and University of Nebraska Medical Center, Omaha, Nebraska, USA.<br /><searchLink fieldCode="AU" term="%22Santos-Silva+E%22">Santos-Silva E</searchLink>; Centro Materno-Infantil do Norte Albino Aroso, Centro Hospitalar Universitário de Santo António, Porto, Portugal.; UCIBIO - Applied Molecular Biosciences Unit, Biochemistry Laboratory, Department of Biological Sciences, Faculdade de Farmácia, Universidade do Porto, Porto, Portugal.<br /><searchLink fieldCode="AU" term="%22Schwarz+KB%22">Schwarz KB</searchLink>; Division of Pediatric Gastroenterology, Rady Children's Hospital San Diego, University of California San Diego, San Diego, California, USA.<br /><searchLink fieldCode="AU" term="%22Brecelj+J%22">Brecelj J</searchLink>; Pediatric Gastroenterology, Hepatology and Nutrition, University Medical Center Ljubljana, Ljubljana, Slovenia.; Department of Pediatrics, Faculty of Medicine, University Medical Center Ljubljana, Ljubljana, Slovenia.<br /><searchLink fieldCode="AU" term="%22Sanchez+MC%22">Sanchez MC</searchLink>; Pediatric Gastroenterology and Hepatology Division, Hospital Italiano Buenos Aires, Buenos Aires, Argentina.<br /><searchLink fieldCode="AU" term="%22Cavalieri+ML%22">Cavalieri ML</searchLink>; Pediatric Gastroenterology and Hepatology Division, Hospital Italiano Buenos Aires, Buenos Aires, Argentina.<br /><searchLink fieldCode="AU" term="%22Tzivinikos+C%22">Tzivinikos C</searchLink>; Department of Paediatric Gastroenterology, Al Jalila Children's Specialty Hospital, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, UAE.<br /><searchLink fieldCode="AU" term="%22Wiecek+S%22">Wiecek S</searchLink>; Department of Pediatrics, Medical University of Silesia in Katowice, Katowice, Poland.<br /><searchLink fieldCode="AU" term="%22Eshun+J%22">Eshun J</searchLink>; Department of Pediatric Gastroenterology, The University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, Tennessee, USA.<br /><searchLink fieldCode="AU" term="%22Kerkar+N%22">Kerkar N</searchLink>; Massachusetts General Hospital for Children, Boston, Massachusetts, USA.; University of Rochester Medical Center, Rochester, New York, USA.<br /><searchLink fieldCode="AU" term="%22Mujawar+Q%22">Mujawar Q</searchLink>; Section of Pediatric Gastroenterology, Department of Pediatrics, University of Manitoba, Winnipeg, Canada.<br /><searchLink fieldCode="AU" term="%22Önal+Z%22">Önal Z</searchLink>; Pediatric Gastroenterology, Hepatology and Nutrition Department, Istanbul University Istanbul Medical Faculty, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Gonçalves+C%22">Gonçalves C</searchLink>; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Lisbon, Portugal.; Pediatric Gastroenterology/Hepatology Center, Lisbon, Portugal.<br /><searchLink fieldCode="AU" term="%22Garcia+J%22">Garcia J</searchLink>; Division of Pediatric Gastroenterology, Hepatology and Nutrition/Miami Transplant Institute, University of Miami, Miami, Florida, USA.<br /><searchLink fieldCode="AU" term="%22Alam+S%22">Alam S</searchLink>; Department of Pediatric Hepatology, Institute of Liver and Biliary Sciences, New Delhi, India.<br /><searchLink fieldCode="AU" term="%22Jimenez-Rivera+C%22">Jimenez-Rivera C</searchLink>; Division of Gastroenterology, Hepatology and Nutrition, Children's Hospital of Eastern Ontario, Ottawa, Canada.<br /><searchLink fieldCode="AU" term="%22Bujanda+L%22">Bujanda L</searchLink>; Department of Hepatology and Gastroenterology, Biodonostia Health Research Institute - Donostia University Hospital, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Universidad del País Vasco (UPV/EHU), San Sebastián, Spain.<br /><searchLink fieldCode="AU" term="%22Thompson+RJ%22">Thompson RJ</searchLink>; Institute of Liver Studies, King's College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Hansen+BE%22">Hansen BE</searchLink>; Toronto General Hospital University Health Network, Toronto, Canada.; Institute of Health Policy, Management and Evaluation, Toronto, Canada.<br /><searchLink fieldCode="AU" term="%22Spinner+NB%22">Spinner NB</searchLink>; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Gilbert+MA%22">Gilbert MA</searchLink>; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Kamath+BM%22">Kamath BM</searchLink>; Division of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children and the University of Toronto, Toronto, Canada.; Division of Gastroenterology, Hepatology and Nutrition, The Children's Hospital of Philadelphia, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
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  Data: <searchLink fieldCode="JN" term="%22101160857%22">Liver international : official journal of the International Association for the Study of the Liver</searchLink> [Liver Int] 2025 Sep; Vol. 45 (9), pp. e70251.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101160857 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1478-3231 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214783223%22">14783223 </searchLink><i>NLM ISO Abbreviation: </i>Liver Int <i>Subsets: </i>MEDLINE
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      – TitleFull: Phenotypic Divergence of JAG1- and NOTCH2-Associated Alagille Syndrome & Disease-Specific NOTCH2 Variant Classification Guidelines.
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              Text: 2025 Sep
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