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Page 1
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. Among authors: philippakis a. 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.
Titin Truncating Variants in Adults Without Known Congestive Heart Failure.
Pirruccello JP, Bick A, Chaffin M, Aragam KG, Choi SH, Lubitz SA, Ho CY, Ng K, Philippakis A, Ellinor PT, Kathiresan S, Khera AV. Pirruccello JP, et al. Among authors: philippakis a. J Am Coll Cardiol. 2020 Mar 17;75(10):1239-1241. doi: 10.1016/j.jacc.2020.01.013. J Am Coll Cardiol. 2020. PMID: 32164899 Free PMC article. No abstract available.
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: philippakis a. JAMA Netw Open. 2020 Apr 1;3(4):e203959. doi: 10.1001/jamanetworkopen.2020.3959. JAMA Netw Open. 2020. PMID: 32347951 Free PMC article.
Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy.
Pirruccello JP, Bick A, Wang M, Chaffin M, Friedman S, Yao J, Guo X, Venkatesh BA, Taylor KD, Post WS, Rich S, Lima JAC, Rotter JI, Philippakis A, Lubitz SA, Ellinor PT, Khera AV, Kathiresan S, Aragam KG. Pirruccello JP, et al. Among authors: philippakis a. Nat Commun. 2020 May 7;11(1):2254. doi: 10.1038/s41467-020-15823-7. Nat Commun. 2020. PMID: 32382064 Free PMC article.
A structural variation reference for medical and population genetics.
Collins RL, Brand H, Karczewski KJ, Zhao X, Alföldi J, Francioli LC, Khera AV, Lowther C, Gauthier LD, Wang H, Watts NA, Solomonson M, O'Donnell-Luria A, Baumann A, Munshi R, Walker M, Whelan CW, Huang Y, Brookings T, Sharpe T, Stone MR, Valkanas E, Fu J, Tiao G, Laricchia KM, Ruano-Rubio V, Stevens C, Gupta N, Cusick C, Margolin L; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Taylor KD, Lin HJ, Rich SS, Post WS, Chen YI, Rotter JI, Nusbaum C, Philippakis A, Lander E, Gabriel S, Neale BM, Kathiresan S, Daly MJ, Banks E, MacArthur DG, Talkowski ME. Collins RL, et al. Among authors: philippakis a. Nature. 2020 May;581(7809):444-451. doi: 10.1038/s41586-020-2287-8. Epub 2020 May 27. Nature. 2020. PMID: 32461652 Free PMC article.
Limitations of Contemporary Guidelines for Managing Patients at High Genetic Risk of Coronary Artery Disease.
Aragam KG, Dobbyn A, Judy R, Chaffin M, Chaudhary K, Hindy G, Cagan A, Finneran P, Weng LC, Loos RJF, Nadkarni G, Cho JH, Kember RL, Baras A, Reid J, Overton J, Philippakis A, Ellinor PT, Weiss ST, Rader DJ, Lubitz SA, Smoller JW, Karlson EW, Khera AV, Kathiresan S, Do R, Damrauer SM, Natarajan P. Aragam KG, et al. Among authors: philippakis a. J Am Coll Cardiol. 2020 Jun 9;75(22):2769-2780. doi: 10.1016/j.jacc.2020.04.027. J Am Coll Cardiol. 2020. PMID: 32498804 Free PMC article.
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions.
Fahed AC, Wang M, Homburger JR, Patel AP, Bick AG, Neben CL, Lai C, Brockman D, Philippakis A, Ellinor PT, Cassa CA, Lebo M, Ng K, Lander ES, Zhou AY, Kathiresan S, Khera AV. Fahed AC, et al. Among authors: philippakis a. Nat Commun. 2020 Aug 20;11(1):3635. doi: 10.1038/s41467-020-17374-3. Nat Commun. 2020. PMID: 32820175 Free PMC article.
Physiology as a Lingua Franca for Clinical Machine Learning.
Sarma GP, Reinertsen E; ML4CVD Group. Sarma GP, et al. Patterns (N Y). 2020 May 8;1(2):100017. doi: 10.1016/j.patter.2020.100017. eCollection 2020 May 8. Patterns (N Y). 2020. PMID: 33205094 Free PMC article.
Performance of Atrial Fibrillation Risk Prediction Models in Over 4 Million Individuals.
Khurshid S, Kartoun U, Ashburner JM, Trinquart L, Philippakis A, Khera AV, Ellinor PT, Ng K, Lubitz SA. Khurshid S, et al. Among authors: philippakis a. Circ Arrhythm Electrophysiol. 2021 Jan;14(1):e008997. doi: 10.1161/CIRCEP.120.008997. Epub 2020 Dec 9. Circ Arrhythm Electrophysiol. 2021. PMID: 33295794 Free PMC article.
98 results