Selected Publications

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.

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.

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.

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.