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Cell Modeling and Rescue of a Novel Non-coding Genetic Cause of Glycogen Storage Disease IX.
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
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Interpretation of Incidental Genetic Findings Localizing to Genes Associated With Cardiac Channelopathies and Cardiomyopathies.
Ezekian JE, Rehder C, Kishnani PS, Landstrom AP.
Ezekian JE, et al.
Circ Genom Precis Med. 2021 Aug;14(4):e003200. doi: 10.1161/CIRCGEN.120.003200. Epub 2021 Aug 13.
Circ Genom Precis Med. 2021.
PMID: 34384235
Free PMC article.
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