Selected Publications

Vandriel, SM, Li, L, She, H, Wang, J, Loomes, KM, Piccoli, DA, Jankowska, I, Czubkowski, P; Gliwicz-Miedzińska, D, D’Antiga, L, Nicastro, E, Lacaille, F, Debray, D, Sokal, EM, 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, A, Gonzales, EM, Jacquemin, E, Bouligand, J, Ebel, NH, Feinstein, JA, Siew, S, 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, NR, 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, and Kamath, B., and the Global ALagille Alliance (GALA) Study Group: Phenotypic divergence of JAG1- and NOTCH2-associated Alagille syndrome & disease-specific NOTCH2 variant classification guidelines. Liver International July 2025.

Rare Disease 360: Melissa Gilbert, PhD, on Alagille syndrome genetics and the power of multidisciplinary dialogue at the inaugural Cholestatic Liver Disease Summit. Med Journal 360 July 2025 Notes: https://medjournal360.com/alagille-syndrome/melissa-gilbert-phd-on-alagille-syndrome-genetics-and-the-power-of-multidisciplinary-dialogue-at-the-inaugural-cholestatic-liver-disease-summit/

Gilbert, MA, Keefer-Jacques, E, Jadhav, T, Valente, N, Matwijec, G, Loomes, KM, Rajagopalan, R, Hayeck, TJ, and Spinner, NB: Utilizing a high-throughput membrane expression assay to identify variants amenable to cell trafficking correction in Alagille syndrome. Mutational Scanning Symposium (MSS) Annual Meeting-Barcelona, Spain May 2025.

Dortenzio V, Barbaric L, Rosenfeld E, Dechene E, Gilbert MA, Dulik MC, Rippert AL, and Izumi K: Clinical characteristics of patients with Kabuki syndrome at a single children's tertiary hospital. American Journal of Medical Genetics: Part A January 2025.

Evans E, Chen G, Pavlinov I, Huang X, Linask K, Liu C, Lopez AR, Gilbert MA, Spinner NB, Rodemse S, Baumgartele K, Chen C, Zou J, and Wei Z: Generation of induced pluripotent stem cell lines TRNDi037-A and TRNDI038-A from two patients with Alagille syndrome carrying heterozygous JAG1 mutations. Stem Cell Research December 2024.

Gilbert, MA, Keefer-Jacques, E, Jadhav, T, Antfolk, D, Ming, Q, Valente, N, Shaw, GT-W, Sottolano, CJ, Matwijec, G, Luca, VC, Loomes, KM, Rajagopalan, R, Hayeck, TJ, and Spinner, NB: Versatility of variant libraries and deep mutational scanning in diagnostics and therapeutics for transmembrane proteins. American Society of Human Genetics (ASHG) annual conference (Denver, CO) November 2024.

Gilbert MA, Keefer-Jacques E, Jadhav T, Antfolk D, Ming Q, Valente N, Shaw GT-W, Sottolano CJ, Matwijec G, Luca VC, Loomes KM, Rajagopalan R, Hayeck TJ, and Spinner NB: Using high-throughput functional data to improve diagnostics and investigate therapeutics for Alagille syndrome. Digestive Disease Research Core Centers (DDRCC) annual meeting, Yale (New Haven, CT) September 2024.

Keefer-Jacques E, Valente N, Jacko AM, Matwijec G, Reese A, Tekriwal A, Loomes KM, Spinner, NB, and Gilbert MA: Investigation of cryptic JAG1 splice variants as a cause of Alagille syndrome and performance evaluation of splice predictor tools. Human Genetics and Genomics Advances September 2024.

Spencer K: Inside AJHG: A Chat with Melissa A. Gilbert. American Society of Human Genetics website https://www.ashg.org/ajhg/inside-ajhg-with-melissa-a-gilbert/ (eds.). August 2024 Notes: Interviewed by ASHG for having recently published a paper of interest (Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation)

Gilbert, MA, Keefer-Jacques, E, Jadhav, T, Antfolk, D, Ming, Q, Valente, N, Shaw, GT, Sottolano, CJ, Matwijec, G, Luca, VC, Loomes, KM, Rajagopalan, R, Hayeck, TJ, and Spinner, NB: Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation. American Journal of Human Genetics 111(8): 1656-1672, August 2024.