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American Journal of Medical Genetics. Part A|February 5, 2026
Novel Features of RASopathies: Liver Disease as an Emerging PhenotypeAlyssa L Rippert, Alanna Strong, Rebecca C Ahrens-NicklasGenetics in Medicine : Official Journal of the American College of Medical Genetics|January 14, 2025
Longitudinal outcomes in Noonan syndromeAlyssa L Rippert, Rebecca Reef, Ashika Mani, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|June 10, 2023
Unmasking the challenges of Kabuki syndrome in adulthood: A case seriesJessica R C Priestley, Alyssa L Rippert, Courtney Condit, et al.American Journal of Medical Genetics. Part A|May 9, 2023
Expansion of clinical and variant spectrum of EEF2-related neurodevelopmental disorder: Report of two additional casesRose Guo, Alyssa L Rippert, Edward B Cook, et al.Human Mutation|April 14, 2025
Evaluating the Utility of a New Pathogenicity Predictor for Pediatric CardiomyopathyAlyssa L Rippert, Sarah Trackman, Danielle Burstein, et al.American Journal of Medical Genetics. Part A|February 12, 2025
Clinical Characteristics of Patients With Kabuki Syndrome at a Single Tertiary Children's HospitalVictoria Dortenzio, Lidija Barbaric, Elizabeth Rosenfeld, et al.Biorxiv : the Preprint Server for Biology|March 30, 2023
Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structureAudrey G O'Neill, Anika L Burrell, Michael Zech, et al.American Journal of Medical Genetics. Part A|July 15, 2024
Expanding the clinical phenotype and variant spectrum associated with RFX7Talia Sisroe, Attila Dos Santos, Alyssa L Rippert, et al.The Journal of Biological Chemistry|July 6, 2023
Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulationAudrey G O'Neill, Anika L Burrell, Michael Zech, et al.Journal of Genetic Counseling|April 29, 2024
Genetic counseling for the dystrophinopathies-Practice resource of the National Society of Genetic CounselorsAngela M Pickart, Ann S Martin, Brianna N Gross, et al.Pageof 3