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Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing.
Haggerty CM, James CA, Calkins H, Tichnell C, Leader JB, Hartzel DN, Nevius CD, Pendergrass SA, Person TN, Schwartz M, Ritchie MD, Carey DJ, Ledbetter DH, Williams MS, Dewey FE, Lopez A, Penn J, Overton JD, Reid JG, Lebo M, Mason-Suares H, Austin-Tse C, Rehm HL, Delisle BP, Makowski DJ, Mehra VC, Murray MF, Fornwalt BK. Haggerty CM, et al. Genet Med. 2017 Nov;19(11):1245-1252. doi: 10.1038/gim.2017.40. Epub 2017 May 4. Genet Med. 2017. PMID: 28471438 Free PMC article.
A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort.
Schwartz MLB, McCormick CZ, Lazzeri AL, Lindbuchler DM, Hallquist MLG, Manickam K, Buchanan AH, Rahm AK, Giovanni MA, Frisbie L, Flansburg CN, Davis FD, Sturm AC, Nicastro C, Lebo MS, Mason-Suares H, Mahanta LM, Carey DJ, Williams JL, Williams MS, Ledbetter DH, Faucett WA, Murray MF. Schwartz MLB, et al. Am J Hum Genet. 2018 Sep 6;103(3):328-337. doi: 10.1016/j.ajhg.2018.07.009. Epub 2018 Aug 9. Am J Hum Genet. 2018. PMID: 30100086 Free PMC article.
Rare Genetic Variants Associated With Sudden Cardiac Death in Adults.
Khera AV, Mason-Suares H, Brockman D, Wang M, VanDenburgh MJ, Senol-Cosar O, Patterson C, Newton-Cheh C, Zekavat SM, Pester J, Chasman DI, Kabrhel C, Jensen MK, Manson JE, Gaziano JM, Taylor KD, Sotoodehnia N, Post WS, Rich SS, Rotter JI, Lander ES, Rehm HL, Ng K, Philippakis A, Lebo M, Albert CM, Kathiresan S. Khera AV, et al. J Am Coll Cardiol. 2019 Nov 26;74(21):2623-2634. doi: 10.1016/j.jacc.2019.08.1060. Epub 2019 Nov 11. J Am Coll Cardiol. 2019. PMID: 31727422 Free PMC article.
Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History.
Patel AP, Wang M, Fahed AC, Mason-Suares H, Brockman D, Pelletier R, Amr S, Machini K, Hawley M, Witkowski L, Koch C, Philippakis A, Cassa CA, Ellinor PT, Kathiresan S, Ng K, Lebo M, Khera AV. Patel AP, et al. Among authors: mason suares h. JAMA Netw Open. 2020 Apr 1;3(4):e203959. doi: 10.1001/jamanetworkopen.2020.3959. JAMA Netw Open. 2020. PMID: 32347951 Free PMC article.
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.
Hawley MH, Almontashiri N, Biesecker LG, Berger N, Chung WK, Garcia J, Grebe TA, Kelly MA, Lebo MS, Macaya D, Mei H, Platt J, Richard G, Ryan A, Thomson KL, Vatta M, Walsh R, Ware JS, Wheeler M, Zouk H, Mason-Suares H, Funke B. Hawley MH, et al. Among authors: mason suares h. Hum Mutat. 2020 Sep;41(9):1577-1587. doi: 10.1002/humu.24061. Epub 2020 Jun 24. Hum Mutat. 2020. PMID: 32516855 Free PMC article.
A framework for automated gene selection in genomic applications.
Lazo de la Vega L, Yu W, Machini K, Austin-Tse CA, Hao L, Blout Zawatsky CL, Mason-Suares H, Green RC, Rehm HL, Lebo MS. Lazo de la Vega L, et al. Among authors: mason suares h. Genet Med. 2021 Oct;23(10):1993-1997. doi: 10.1038/s41436-021-01213-x. Epub 2021 Jun 10. Genet Med. 2021. PMID: 34113001 Free PMC article.
38 results