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Page 1
Inactivating mutations in NPC1L1 and protection from coronary heart disease.
Myocardial Infarction Genetics Consortium Investigators; Stitziel NO, Won HH, Morrison AC, Peloso GM, Do R, Lange LA, Fontanillas P, Gupta N, Duga S, Goel A, Farrall M, Saleheen D, Ferrario P, König I, Asselta R, Merlini PA, Marziliano N, Notarangelo MF, Schick U, Auer P, Assimes TL, Reilly M, Wilensky R, Rader DJ, Hovingh GK, Meitinger T, Kessler T, Kastrati A, Laugwitz KL, Siscovick D, Rotter JI, Hazen SL, Tracy R, Cresci S, Spertus J, Jackson R, Schwartz SM, Natarajan P, Crosby J, Muzny D, Ballantyne C, Rich SS, O'Donnell CJ, Abecasis G, Sunaev S, Nickerson DA, Buring JE, Ridker PM, Chasman DI, Austin E, Kullo IJ, Weeke PE, Shaffer CM, Bastarache LA, Denny JC, Roden DM, Palmer C, Deloukas P, Lin DY, Tang ZZ, Erdmann J, Schunkert H, Danesh J, Marrugat J, Elosua R, Ardissino D, McPherson R, Watkins H, Reiner AP, Wilson JG, Altshuler D, Gibbs RA, Lander ES, Boerwinkle E, Gabriel S, Kathiresan S. Myocardial Infarction Genetics Consortium Investigators, et al. Among authors: kathiresan s. N Engl J Med. 2014 Nov 27;371(22):2072-82. doi: 10.1056/NEJMoa1405386. Epub 2014 Nov 12. N Engl J Med. 2014. PMID: 25390462 Free PMC article.
Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy: an analysis of primary and secondary prevention trials.
Mega JL, Stitziel NO, Smith JG, Chasman DI, Caulfield M, Devlin JJ, Nordio F, Hyde C, Cannon CP, Sacks F, Poulter N, Sever P, Ridker PM, Braunwald E, Melander O, Kathiresan S, Sabatine MS. Mega JL, et al. Among authors: kathiresan s. Lancet. 2015 Jun 6;385(9984):2264-2271. doi: 10.1016/S0140-6736(14)61730-X. Epub 2015 Mar 4. Lancet. 2015. PMID: 25748612 Free PMC article.
Association of APOC3 Loss-of-Function Mutations With Plasma Lipids and Subclinical Atherosclerosis: The Multi-Ethnic BioImage Study.
Natarajan P, Kohli P, Baber U, Nguyen KH, Sartori S, Reilly DF, Mehran R, Muntendam P, Fuster V, Rader DJ, Kathiresan S. Natarajan P, et al. Among authors: kathiresan s. J Am Coll Cardiol. 2015 Nov 3;66(18):2053-2055. doi: 10.1016/j.jacc.2015.08.866. J Am Coll Cardiol. 2015. PMID: 26516010 Free PMC article. No abstract available.
A null mutation in ANGPTL8 does not associate with either plasma glucose or type 2 diabetes in humans.
Clapham KR, Chu AY, Wessel J, Natarajan P, Flannick J, Rivas MA, Sartori S, Mehran R, Baber U, Fuster V, Scott RA, Rader DJ, Boehnke M, McCarthy MI, Altshuler DM, Kathiresan S, Peloso GM. Clapham KR, et al. Among authors: kathiresan s. BMC Endocr Disord. 2016 Jan 28;16:7. doi: 10.1186/s12902-016-0088-8. BMC Endocr Disord. 2016. PMID: 26822414 Free PMC article.
Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia.
Khera AV, Won HH, Peloso GM, Lawson KS, Bartz TM, Deng X, van Leeuwen EM, Natarajan P, Emdin CA, Bick AG, Morrison AC, Brody JA, Gupta N, Nomura A, Kessler T, Duga S, Bis JC, van Duijn CM, Cupples LA, Psaty B, Rader DJ, Danesh J, Schunkert H, McPherson R, Farrall M, Watkins H, Lander E, Wilson JG, Correa A, Boerwinkle E, Merlini PA, Ardissino D, Saleheen D, Gabriel S, Kathiresan S. Khera AV, et al. Among authors: kathiresan s. J Am Coll Cardiol. 2016 Jun 7;67(22):2578-89. doi: 10.1016/j.jacc.2016.03.520. Epub 2016 Apr 3. J Am Coll Cardiol. 2016. PMID: 27050191 Free PMC article.
PCSK9 Inhibitors.
Natarajan P, Kathiresan S. Natarajan P, et al. Among authors: kathiresan s. Cell. 2016 May 19;165(5):1037. doi: 10.1016/j.cell.2016.05.016. Cell. 2016. PMID: 27203103 Free article.
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG; Exome Aggregation Consortium. Lek M, et al. Among authors: kathiresan s. Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057. Nature. 2016. PMID: 27535533 Free PMC article.
Ultra-rare disruptive and damaging mutations influence educational attainment in the general population.
Ganna A, Genovese G, Howrigan DP, Byrnes A, Kurki M, Zekavat SM, Whelan CW, Kals M, Nivard MG, Bloemendal A, Bloom JM, Goldstein JI, Poterba T, Seed C, Handsaker RE, Natarajan P, Mägi R, Gage D, Robinson EB, Metspalu A, Salomaa V, Suvisaari J, Purcell SM, Sklar P, Kathiresan S, Daly MJ, McCarroll SA, Sullivan PF, Palotie A, Esko T, Hultman C, Neale BM. Ganna A, et al. Among authors: kathiresan s. Nat Neurosci. 2016 Dec;19(12):1563-1565. doi: 10.1038/nn.4404. Epub 2016 Oct 3. Nat Neurosci. 2016. PMID: 27694993 Free PMC article.
476 results