Phenotypic Divergence of JAG1- and NOTCH2-Associated Alagille Syndrome & Disease-Specific NOTCH2 Variant Classification Guidelines.
Vandriel SM, Li LT, She H, Wang JS, Loomes KM, Piccoli DA, Jankowska I, Czubkowski P, Gliwicz-Miedzińska D, D'Antiga L, Nicastro E, Lacaille F, Debray D, Sokal ÉM, Demaret T, Fawaz RL, Nastasio S, Kim KM, Oh SH, Fischler B, Arnell H, Larson-Nath C, Hardikar W, Shankar S, Sundaram SS, Chaidez A, Bulut P, Calvo PL, Kasahara M, Blondet N, Lurz E, Kavallar AM, Gonzales EM, Jacquemin E, Bouligand J, Ebel NH, Feinstein JA, Siew SM, Stormon MO, Karpen SJ, Romero R, Jensen MK, Jaramillo C, Squires JE, Bedoyan SM, Kelly DA, Hartley J, Verkade HJ, Lee WS, Lertudomphonwanit C, Fischer RT, Lin HC, Rock N, Mozer-Glassberg Y, Roberts AJ, Evans HM, Karnsakul W, Nebbia G, Wolters VM, Valentino PL, Bernabeu JQ, Aqul AA, Arikan C, Tamara ML, Busoms CM, Sandahl TD, Indolfi G, Zizzo AN, Zellos A, Quiros-Tejeira RE, Santos-Silva E, Schwarz KB, Brecelj J, Sanchez MC, Cavalieri ML, Tzivinikos C, Wiecek S, Eshun J, Kerkar N, Mujawar Q, Önal Z, Gonçalves C, Garcia J, Alam S, Jimenez-Rivera C, Bujanda L, Thompson RJ, Hansen BE, Spinner NB, Gilbert MA, Kamath BM; Global ALagille Alliance (GALA) Study Group.
Vandriel SM, et al. Among authors: lin hc.
Liver Int. 2025 Sep;45(9):e70251. doi: 10.1111/liv.70251.
Liver Int. 2025.
PMID: 40742203
Free PMC article.