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Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 22, 2023
Exploring Autistic adults' perspectives on genetic testing for autismLoryn Byres, Emily Morris, Jehannine AustinEuropean Journal of Human Genetics : EJHG|May 7, 2025
Autistic perspectives on the moral and ethical considerations of genetic testing for autismMitch Hendry, Loryn Byres, Jehannine AustinAmerican Journal of Medical Genetics. Part A|January 24, 2024
Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysisDuha Hejla, Stephanie Huynh, Simran Samra, et al.American Journal of Medical Genetics. Part A|March 14, 2026
Combined Long-Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2Kiana Rashidi, Bhavi P Modi, Phillip A Richmond, et al.HGG Advances|December 2, 2023
Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphismSimran Samra, Mehul Sharma, Maryam Vaseghi-Shanjani, et al.Cell Reports|March 27, 2020
Shifts in Ribosome Engagement Impact Key Gene Sets in Neurodevelopment and Ubiquitination in Rett SyndromeDeivid C Rodrigues, Marat Mufteev, Robert J Weatheritt, et al.Pageof 1