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  • Melissa A Gilbert
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Faculty

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Melissa A Gilbert, PhD

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Research Assistant Professor of Pathology and Laboratory Medicine
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Department: Pathology and Laboratory Medicine
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1f Graduate Group Affiliations 8 a
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The Children's Hospital of Philadelphia
1f 3615 Civic Center Blvd.
41 1007B Abramson Research Center
Philadelphia, PA 19104
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Email: gilbertma@chop.edu
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13 Education:
21 7 BA 14 (Biology) c
2e University of Vermont, 2005.
 21 8 PhD 15 (Genetics) c
29 Tufts University, 2014.
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Selected Publications

165 Anbarasu K, Antfolk D, Luca V, Spinner NB, and Gilbert MA: High-throughput characterization of missense variants using a quantitative binding assay for the systematic evaluation of variant effects. American College of Medical Genetics (ACMG) Annual Meeting–Baltimore, MD March 2026.

 1f7 Wild, K.T., Reichert, S.L., Dulik, M.C., Heck, A., Bedoukian, E.C., Wood, K.H., Callahan, K.P., Hershey, J.A., Munson, D.A., Pechter, K.B, Regan-Fendt, K., Gacita, A.M., Santos, F.J.R., McManus, M.L., Diaz-Miranda, M.A., Gilbert, M.A., Krantz, I.D., Rajagopalan, R., Conlin, L.K., and Spinner, N.B. : Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants. Genetics in Medicine 4, November 2025.

 5ad 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 45(9): e70251, July 2025.

 1b9 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/ 2 66 Interview for a talk I gave at the Cholestatic Liver Disease Summit in June, 2025.

 1aa 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 Notes: poster.

 157 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 197(6): e64003, January 2025.

 1a6 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 82, December 2024 Notes: no issue.

 1df 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 Notes: poster.

 1d5 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 Notes: poster.

 17f 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 5(4): 100351, September 2024.

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