Selected Publications

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.

Omer Hatim, Miao Xu, Ivan Pavlinov, Kaari Linask, Jeanette Beers, Jizhong Zou, Chengyu Liu, Steven Rodems, Karsten Baumgartel, Melissa A. Gilbert, Nancy B. Spinner, Catherine Chen, Wei Zheng: Generation of an Alagille syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi036-A) carrying a heterozygous mutation (p.Cys693*) in the JAG1 gene. Stem Cell Research. Elsevier, 77, June 2024.

Melissa A. Gilbert, Ernest Keefer-Jacques, Tanaya Jadhav, Daniel Antfolk, Qianqian Ming, Nicolette Valente, Grace Tzun-Wen Shaw, Christopher J. Sottolano, Grace Matwijec, Vincent C. Luca, Kathleen M. Loomes, Ramakrishnan Rajagopalan, Tristan J. Hayeck, and Nancy B. Spinner: Using MAVEs data to reclassify variants of uncertain significance in ALGS. Mutational Scanning Symposium 2024 annual conference (Boston, MA) May 2024.