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Cell Modeling and Rescue of a Novel Non-coding Genetic Cause of Glycogen Storage Disease IX.
Iyengar AK, Zou X, Dai J, Francis RA, Safi A, Patterson K, Koch RL, Clarke S, Beaman MM, Chong JX, Bamshad MJ, Majoros WH, Rehder RC, Bali DS, Allen AS, Crawford GE, Kishnani PS, Reddy TE. Iyengar AK, et al. bioRxiv [Preprint]. 2025 May 17:2025.05.14.654043. doi: 10.1101/2025.05.14.654043. bioRxiv. 2025. PMID: 40462889 Free PMC article. Preprint.
Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia.
Beaman MM, Yin W, Smith AJ, Sears PR, Leigh MW, Ferkol TW, Kearney B, Olivier KN, Kimple AJ, Clarke S, Huggins E, Nading E, Jung SH, Iyengar AK, Zou X, Dang H, Barrera A, Majoros WH, Rehder CW, Reddy TE, Ostrowski LE, Allen AS, Knowles MR, Zariwala MA, Crawford GE. Beaman MM, et al. Am J Med Genet A. 2025 Feb;197(2):e63880. doi: 10.1002/ajmg.a.63880. Epub 2024 Oct 4. Am J Med Genet A. 2025. PMID: 39364610