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Human gain-of-function variants in HNF1A confer protection from diabetes but independently increase hepatic secretion of atherogenic lipoproteins.
DeForest N, Kavitha B, Hu S, Isaac R, Krohn L, Wang M, Du X, De Arruda Saldanha C, Gylys J, Merli E, Abagyan R, Najmi L, Mohan V; Alnylam Human Genetics; AMP-T2D Consortium; Flannick J, Peloso GM, Gordts PLSM, Heinz S, Deaton AM, Khera AV, Olefsky J, Radha V, Majithia AR. DeForest N, et al. Among authors: khera av. Cell Genom. 2023 May 30;3(7):100339. doi: 10.1016/j.xgen.2023.100339. eCollection 2023 Jul 12. Cell Genom. 2023. PMID: 37492105 Free PMC article.
Rare Protein-Truncating Variants in APOB, Lower Low-Density Lipoprotein Cholesterol, and Protection Against Coronary Heart Disease.
Peloso GM, Nomura A, Khera AV, Chaffin M, Won HH, Ardissino D, Danesh J, Schunkert H, Wilson JG, Samani N, Erdmann J, McPherson R, Watkins H, Saleheen D, McCarthy S, Teslovich TM, Leader JB, Lester Kirchner H, Marrugat J, Nohara A, Kawashiri MA, Tada H, Dewey FE, Carey DJ, Baras A, Kathiresan S. Peloso GM, et al. Among authors: khera av. Circ Genom Precis Med. 2019 May;12(5):e002376. doi: 10.1161/CIRCGEN.118.002376. Circ Genom Precis Med. 2019. PMID: 30939045 Free PMC article.
Heterozygous ABCG5 Gene Deficiency and Risk of Coronary Artery Disease.
Nomura A, Emdin CA, Won HH, Peloso GM, Natarajan P, Ardissino D, Danesh J, Schunkert H, Correa A, Bown MJ, Samani NJ, Erdmann J, McPherson R, Watkins H, Saleheen D, Elosua R, Kawashiri MA, Tada H, Gupta N, Shah SH, Rader DJ, Gabriel S, Khera AV, Kathiresan S. Nomura A, et al. Among authors: khera av. Circ Genom Precis Med. 2020 Oct;13(5):417-423. doi: 10.1161/CIRCGEN.119.002871. Epub 2020 Aug 30. Circ Genom Precis Med. 2020. PMID: 32862661 Free PMC article.
Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes.
Hindy G, Dornbos P, Chaffin MD, Liu DJ, Wang M, Selvaraj MS, Zhang D, Park J, Aguilar-Salinas CA, Antonacci-Fulton L, Ardissino D, Arnett DK, Aslibekyan S, Atzmon G, Ballantyne CM, Barajas-Olmos F, Barzilai N, Becker LC, Bielak LF, Bis JC, Blangero J, Boerwinkle E, Bonnycastle LL, Bottinger E, Bowden DW, Bown MJ, Brody JA, Broome JG, Burtt NP, Cade BE, Centeno-Cruz F, Chan E, Chang YC, Chen YI, Cheng CY, Choi WJ, Chowdhury R, Contreras-Cubas C, Córdova EJ, Correa A, Cupples LA, Curran JE, Danesh J, de Vries PS, DeFronzo RA, Doddapaneni H, Duggirala R, Dutcher SK, Ellinor PT, Emery LS, Florez JC, Fornage M, Freedman BI, Fuster V, Garay-Sevilla ME, García-Ortiz H, Germer S, Gibbs RA, Gieger C, Glaser B, Gonzalez C, Gonzalez-Villalpando ME, Graff M, Graham SE, Grarup N, Groop LC, Guo X, Gupta N, Han S, Hanis CL, Hansen T, He J, Heard-Costa NL, Hung YJ, Hwang MY, Irvin MR, Islas-Andrade S, Jarvik GP, Kang HM, Kardia SLR, Kelly T, Kenny EE, Khan AT, Kim BJ, Kim RW, Kim YJ, Koistinen HA, Kooperberg C, Kuusisto J, Kwak SH, Laakso M, Lange LA, Lee J, Lee J, Lee S, Lehman DM, Lemaitre RN, Linneberg A, Liu J, Loos RJF, Lubitz SA, Lyssenko V, Ma RCW, Martin LW, Martínez-Hernández A, Mathias … See abstract for full author list ➔ Hindy G, et al. Among authors: khera av. Am J Hum Genet. 2022 Jan 6;109(1):81-96. doi: 10.1016/j.ajhg.2021.11.021. Epub 2021 Dec 20. Am J Hum Genet. 2022. PMID: 34932938 Free PMC article.
Machine learning enables new insights into genetic contributions to liver fat accumulation.
Haas ME, Pirruccello JP, Friedman SN, Wang M, Emdin CA, Ajmera VH, Simon TG, Homburger JR, Guo X, Budoff M, Corey KE, Zhou AY, Philippakis A, Ellinor PT, Loomba R, Batra P, Khera AV. Haas ME, et al. Among authors: khera av. Cell Genom. 2021 Dec 8;1(3):100066. doi: 10.1016/j.xgen.2021.100066. Cell Genom. 2021. PMID: 34957434 Free PMC article.
Association of Rare Protein-Truncating DNA Variants in APOB or PCSK9 With Low-density Lipoprotein Cholesterol Level and Risk of Coronary Heart Disease.
Dron JS, Patel AP, Zhang Y, Jurgens SJ, Maamari DJ, Wang M, Boerwinkle E, Morrison AC, de Vries PS, Fornage M, Hou L, Lloyd-Jones DM, Psaty BM, Tracy RP, Bis JC, Vasan RS, Levy D, Heard-Costa N, Rich SS, Guo X, Taylor KD, Gibbs RA, Rotter JI, Willer CJ, Oelsner EC, Moran AE, Peloso GM, Natarajan P, Khera AV. Dron JS, et al. Among authors: khera av. JAMA Cardiol. 2023 Mar 1;8(3):258-267. doi: 10.1001/jamacardio.2022.5271. JAMA Cardiol. 2023. PMID: 36723951 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. 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.
160 results