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American Journal of Medical Genetics. Part A|May 22, 2023
Retrospective identification of patients with SRRM2-related neurodevelopmental disorder in a single tertiary children's hospitalKelly E Regan-Fendt, Alyssa L Rippert, Livija Medne, et al.
Genes|February 26, 2025
16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG SyndromeAiko Iwata-Otsubo, Alyssa L Rippert, Jorune Balciuniene, et al.
The Journal of Pediatrics|November 3, 2023
Diagnostic Yield of Exome Sequencing in Pediatric CardiomyopathyJulia Keisling, Emma Bedoukian, Danielle S Burstein, et al.
American Journal of Medical Genetics. Part A|May 26, 2025
Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental DelayAlanna Strong, Caoimhe McKenna, Karen Stals, et al.
Biorxiv : the Preprint Server for Biology|January 13, 2025
Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathyMichael R Murphy, Mythily Ganapathi, Teresa M Lee, et al.
Nature Cardiovascular Research|January 6, 2026
Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathyMichael R Murphy, Mythily Ganapathi, Esther R Rotlevi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 1, 2023
Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrumJessica R C Priestley, Ashish R Deshwar, Harsha Murthy, et al.
Medrxiv : the Preprint Server for Health Sciences|January 2, 2026
De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neuronsTomoki T Nomakuchi, Alyssa L Rippert, Sabrina A Santos De León, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 23, 2023
Dominant-negative variants in CBX1 cause a neurodevelopmental disorderYukiko Kuroda, Aiko Iwata-Otsubo, Kerith-Rae Dias, et al.
Genes|July 27, 2024
Expanding Genetic Counselor Roles: A Model for Global Research DevelopmentColleen C Muraresku, Elizabeth M McCormick, Lydia Rockart, et al.
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