Selected Publications

Allen, S, Garret, A, Muffley, L, Fayer, S, Foreman, J, Adams, DJ, Hurles, M, Rubin, AF, Roth, FP, Starita, LM, Biesecker, LG, and Turnbull, C: Workshop report: the clinical application of data from multiplex assays of variant effects (MAVEs), 12 July 2023. European Journal of Human Genetics March 2024 Notes: Attended and participated in polling for this workshop. Included in demographic details of Table 2.

Melissa A. Gilbert, Ernest Keefer-Jacques, Tanaya Jadhav, Grace Tzun-Wen Shaw, Nicolette Valente, Grace Matwijec, Kathleen M. Loomes, Ramakrishnan Rajagopalan, Tristan J. Hayeck, and Nancy B. Spinner: Utilizing Multiplexed Assays of Variant Effects to Solve VOUS and Screen for Small Molecule Therapeutics in Alagille Syndrome. American Society of Human Genetics (ASHG) annual conference (Washington DC) October 2023.

Hatim O, Pavlinov I, Xu M, Linask K, Beers J, Liu C, Baumgartel K, Gilbert M, Spinner N, Chen C, Zou J, and Zheng W: Generation of an Alagille syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi032-A) carrying a heterozygous mutation (p.Cys682Leufs*7) in the JAG1 gene. Stem Cell Research 73, October 2023.

Keefer-Jacques, E, Valente, N, Matwijec, G, Nassur, J, Wilkins, B, Loomes, KM, Spinner, NB, Gilbert, MA: Candidate genetic modifier of Alagille syndrome, Thrombospondin2 (THBS2) worsens the liver phenotype in a transgenic zebrafish model. American Society of Human Genetics (ASHG) annual conference (Washington DC) October 2023.

Vandriel SM, Li LT, She H, Wang JS, Gilbert MA, Jankowska I, Czubkowski P, Gliwicz-Miedzińska D, Gonzales EM, Jacquemin E, Bouligand J, Spinner NB, Loomes KM, Piccoli DA, D'Antiga L, Nicastro E, Sokal É, Demaret T, Ebel NH, Feinstein JA, Fawaz R, Nastasio S, Lacaille F, Debray D, Arnell H, Fischler B, Siew S, Stormon M, Karpen SJ, Romero R, Kim KM, Baek WY, Hardikar W, Shankar S, Roberts AJ, Evans HM, Jensen MK, Kavan M, Sundaram SS, Chaidez A, Karthikeyan P, Sanchez MC, Cavalieri ML, Verkade HJ, Lee WS, Squires JE, Hajinicolaou C, Lertudomphonwanit C, Fischer RT, Larson-Nath C, Mozer-Glassberg Y, Arikan C, Lin HC, Bernabeu JQ, Alam S, Kelly DA, Carvalho E, Ferreira CT, Indolfi G, Quiros-Tejeira RE, Bulut P, Calvo PL, Önal Z, Valentino PL, Desai DM, Eshun J, Rogalidou M, Dezsőfi A, Wiecek S, Nebbia G, Pinto RB, Wolters VM, Tamara ML, Zizzo AN, Garcia J, Schwarz K, Beretta M, Sandahl TD, Jimenez-Rivera C, Kerkar N, Brecelj J, Mujawar Q, Rock N, Busoms CM, Karnsakul W, Lurz E, Santos-Silva E, Blondet N, Bujanda L, Shah U, Thompson RJ, Hansen BE, Kamath BM; Global ALagille Alliance (GALA) Study Group.: Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study. Hepatology 77: 512-529, Feb 2023.

Hansen BE, Vandriel SM, Vig P, Garner W, Li LT, She H, Wang JS, Gilbert MA, Jankowska I, Czubkowski P, Gliwicz-Miedzińska D, Gonzales EM, Jacquemin E, Bouligand J, Spinner NB, Loomes KM, Piccoli DA, D’Antiga L, Nicastro E, Sokal É, Demaret T, Ebel NH, Feinstein JA, Fawaz R, Nastasio S, Lacaille F, Debray D, Arnell H, Fischler B, Siew S, Stormon M, Karpen SJ, Romero R, Kim KM, Baek WY, Hardikar W, Shankar S, Roberts AJ, Evans HM, Jensen MK, Kavan M, Sundaram SS, Chaidez A, Karthikeyan P, Davison S, Sanchez MC, Cavalieri ML, Verkade HJ, Lee WS, Squires JE, Hajinicolaou C, Lertudomphonwanit C, Fischer RT, Larson-Nath C, Mozer-Glassberg Y, Arikan C, Lin HC, Bernabeu JQ, Alam S, Kelly D, Carvalho E, Ferreira CT, Indolfi G, Quiros-Tejeira RE, Bulut P, Calvo PL, Önal Z, Valentino PL, Desai DM, Eshun J, Rogalidou M, Dezsőfi A, Wiecek S, Nebbia G, Pinto RB, Wolters VM, Tamara ML, Zizzo AN, Garcia J, Schwarz K, Beretta M, Sandahl TD, Jimenez-Rivera C, Kerkar N, Brecelj J, Mujawar Q, Rock N, Molera C, Karnsakul W, Lurz E, Santos-Silva E, Blondet N, Bujanda L, Shah U, Thompson RJ, Kamath BM, and The Global ALagille Alliance (GALA) Study Group: Application of real-world evidence analytics: A 6-year event-free survival analysis in Alagille syndrome of the GALA clinical research database and maralixibat treated patients. Hepatol. 74(Suppl 6): 1387A-1389A, Nov 2021 Notes: Oral presentation-late-breaking. The Liver Meeting Digital Experience (TLMdX), Selected as 'Best of The Liver Meeting' in the Pediatric Liver Diseases category.

Kohut TJ, Gilbert MA, Loomes KM.: Alagille Syndrome: A Focused Review on Clinical Features, Genetics, and Treatment. Semin Liver Dis 41(4): 525-537, Nov 2021.

Kohut, TJ, Gilbert, MA, Loomes, KM: Alagille syndrome: : A focused review on clinical features, genetics, and treatment. Semin. Liver Dis. 41(4): 525-537, July 2021.

Vandriel SM, Li LT, She H, Wang JS, Gilbert MA, Jankowska I, Czubkowski P, Gliwicz D, Gonzale EM, Jacquemin E, Bouligand J, Spinner NB, Loomes KM, Piccoli DA, D'Antiga L, Nicastro E, Sokal E, Demaret T, Lacaille F, Debray D, Siew S, Stormon M, Fawaz R, Nastasio S, Kim KM, Baek WY, Feinstein JA, Ebel NH, Karpen SJ, Romero R, Karthikeyan P, Davison S, Arnell H, Fischler B, Squires JE, Hardikar W, Shankar S, Jensen KM, Kavan M, Larson-Nath C, Roberts AJ, Evans HM, Verkade HJ, Lertudomphonwanit C, Waisbourd-Zinman O, Sundaram SS, Chaidez A, Fischer RT, Lee WS, Lin H, Kelly D, Bulut P, Calvo PL, Bernabeu JQ, Indolfi G, Nebbia G, Valentino PL, Tamara ML, Desai DM, Zizzo AN, Quiros-Tejeira RE, Kerkar N, Schwarz K, Wolters VM, Mujawar Q, Molera C, Sandahl TD, Jimenez-Rivera C, Santos-Silva E, Blondet N, Brecelj J, Banales JM, Sanchez MC, Cavalieri ML, Wiecek S, Karnsakul W, Lurz E, Alam S, Önal Z, Rogalidou M, Arikan C, Garcia J, Thompson RJ, Hansen BE, Kamath BM, The GALA Study Group: Differential prevalence of extrahepatic clinical manifestations in patients with Jagged1 and NOTCH2-associated Alagille syndrome: Results from the International Multicenter GALA Study Group. J. Pediatr. Gastroenterol. Nutr. 72(Suppl 1): 796-799, June 2021 Notes: Oral presentation. 6th World Congress of Paediatric Gastroenterology, Hepatology and Nutrition (WCPGHAN), Nominated for The Annual Alex Mowat Prize for the best oral presentation in Hepatology.

Gilbert, MA, Loomes, KM: : Alagille syndrome and non-syndromic paucity of the intrahepatic bile ducts. Transl. Gastroenterol. Hepatol. 6(22), Apr 2021.