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Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
Donkervoort S, Mohassel P, O'Leary M, Bonner DE, Hartley T, Acquaye N, Brull A, Mozaffar T, Saporta MA, Dyment DA, Sampson JB, Pajusalu S, Austin-Tse C, Hurth K, Cohen JS, McWalter K, Warman-Chardon J, Crunk A, Foley AR; Undiagnosed Diseases Network; Mammen AL, Wheeler MT, O'Donnell-Luria A, Bönnemann CG. Donkervoort S, et al. Among authors: wheeler mt. Ann Clin Transl Neurol. 2024 Mar;11(3):629-640. doi: 10.1002/acn3.51983. Epub 2024 Feb 4. Ann Clin Transl Neurol. 2024. PMID: 38311799 Free PMC article.
Challenges in the clinical application of whole-genome sequencing.
Ormond KE, Wheeler MT, Hudgins L, Klein TE, Butte AJ, Altman RB, Ashley EA, Greely HT. Ormond KE, et al. Among authors: wheeler mt. Lancet. 2010 May 15;375(9727):1749-51. doi: 10.1016/S0140-6736(10)60599-5. Epub 2010 Apr 29. Lancet. 2010. PMID: 20434765 No abstract available.
Systems biology of heart failure, challenges and hopes.
Dewey FE, Wheeler MT, Ashley EA. Dewey FE, et al. Among authors: wheeler mt. Curr Opin Cardiol. 2011 Jul;26(4):314-21. doi: 10.1097/HCO.0b013e328346597d. Curr Opin Cardiol. 2011. PMID: 21478745 Review.
Sports genetics moving forward: lessons learned from medical research.
Mattsson CM, Wheeler MT, Waggott D, Caleshu C, Ashley EA. Mattsson CM, et al. Among authors: wheeler mt. Physiol Genomics. 2016 Mar;48(3):175-82. doi: 10.1152/physiolgenomics.00109.2015. Epub 2016 Jan 12. Physiol Genomics. 2016. PMID: 26757801 Review.
214 results