Melissa A. Gilbert, PhD
Research Assistant Professor of Pathology and Laboratory MedicinePerelman School of Medicine at the University of Pennsylvania
Contact InformationThe Children's Hospital of Philadelphia
3615 Civic Center Blvd.
1007B Abramson Research Center
Philadelphia, PA, 19104
Email: gilbertma@chop.edu
Education
BA (Biology), University of Vermont, 2005
PhD (Genetics), Tufts University, 2014
Specialty Certification
Postgraduate Training
Post-Doctoral Fellow, Cancer, Thomas Jefferson University, 2014-2014
Awards and Honors
Member, John Dewey Honors Program, University of
Vermont, Burlington, VT, 2001-2005
Simon Scholarship Recipient, University of Vermont,
Burlington, VT, 2001-2005
Presidential Scholarship Recipient, University of Vermont,
Burlington, VT, 2001-2005
Dean's List, University of Vermont, Burlington, VT, 2002-2005
HELiX Summer Research Award, University of Vermont,
Burlington, VT, 2004
APLE Fall Research Award, University of Vermont,
Burlington, VT, 2004
Member, Tri-Beta Biology Honor Society, University of
Vermont, Burlington, VT, 2004-2005
Member, National Society of Collegiate Scholars, University
of Vermont, Burlington, VT, 2004
Summa Cum Laude Graduation Honor, University of Vermont,
Burlington, VT, 2005
Member, Phi Beta Kappa Honor Society, University of
Vermont, Burlington, VT, 2005
Lyman S. Rowell Award for Excellence in Biology (ranked
#1), University of Vermont, Burlington, VT, 2005
Developmental Training Grant Recipient, Tufts University,
Boston, MA, 2007-2009
Center for Neuroscience Research Core Award, Tufts
University, Boston, MA, 2009-2010
Sackler Biomedical Travel Award, Tufts University, Boston,
MA, 2011
Reviewers' Choice Award Abstract, American Society of Human Genetics (ASHG) Conference, 2023
Memberships and Professional Organizations
American Society of Human Genetics, 2020 - Present
Atlas of Variant Effects Alliance, 2022 - Present
Web Links
Selected Publications
Phenotypic divergence of JAG1- and NOTCH2-associated Alagille syndrome & disease-specific NOTCH2 variant classification guidelines
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, Liver International 45(9): e70251, 2025
Melissa Gilbert, PhD, on Alagille syndrome genetics and the power of multidisciplinary dialogue at the inaugural Cholestatic Liver Disease Summit
Rare Disease 360, Med Journal 360, 2025
Utilizing a high-throughput membrane expression assay to identify variants amenable to cell trafficking correction in Alagille syndrome
Gilbert, MA, Keefer-Jacques, E, Jadhav, T, Valente, N, Matwijec, G, Loomes, KM, Rajagopalan, R, Hayeck, TJ, and Spinner, NB, Mutational Scanning Symposium (MSS) Annual Meeting-Barcelona, Spain, 2025
Clinical characteristics of patients with Kabuki syndrome at a single children's tertiary hospital
Dortenzio V, Barbaric L, Rosenfeld E, Dechene E, Gilbert MA, Dulik MC, Rippert AL, and Izumi K, American Journal of Medical Genetics: Part A 197(6): e64003, 2025
Generation of induced pluripotent stem cell lines TRNDi037-A and TRNDI038-A from two patients with Alagille syndrome carrying heterozygous JAG1 mutations
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, Stem Cell Research 82(): , 2024
Versatility of variant libraries and deep mutational scanning in diagnostics and therapeutics for transmembrane proteins
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, American Society of Human Genetics (ASHG) annual conference (Denver, CO), 2024
Using high-throughput functional data to improve diagnostics and investigate therapeutics for Alagille syndrome
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, Digestive Disease Research Core Centers (DDRCC) annual meeting, Yale (New Haven, CT), 2024
Investigation of cryptic JAG1 splice variants as a cause of Alagille syndrome and performance evaluation of splice predictor tools.
Keefer-Jacques E, Valente N, Jacko AM, Matwijec G, Reese A, Tekriwal A, Loomes KM, Spinner, NB, and Gilbert MA, Human Genetics and Genomics Advances 5(4): 100351, 2024
Inside AJHG: A Chat with Melissa A. Gilbert
Spencer K, American Society of Human Genetics website, 2024
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, American Journal of Human Genetics 111(8): 1656-1672, 2024, PMID:39043182
