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Page 1
Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease.
Dewey FE, Gusarova V, O'Dushlaine C, Gottesman O, Trejos J, Hunt C, Van Hout CV, Habegger L, Buckler D, Lai KM, Leader JB, Murray MF, Ritchie MD, Kirchner HL, Ledbetter DH, Penn J, Lopez A, Borecki IB, Overton JD, Reid JG, Carey DJ, Murphy AJ, Yancopoulos GD, Baras A, Gromada J, Shuldiner AR. Dewey FE, et al. Among authors: borecki ib. N Engl J Med. 2016 Mar 24;374(12):1123-33. doi: 10.1056/NEJMoa1510926. Epub 2016 Mar 2. N Engl J Med. 2016. PMID: 26933753 Free PMC article.
Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease.
Khera AV, Won HH, Peloso GM, O'Dushlaine C, Liu D, Stitziel NO, Natarajan P, Nomura A, Emdin CA, Gupta N, Borecki IB, Asselta R, Duga S, Merlini PA, Correa A, Kessler T, Wilson JG, Bown MJ, Hall AS, Braund PS, Carey DJ, Murray MF, Kirchner HL, Leader JB, Lavage DR, Manus JN, Hartzel DN, Samani NJ, Schunkert H, Marrugat J, Elosua R, McPherson R, Farrall M, Watkins H, Lander ES, Rader DJ, Danesh J, Ardissino D, Gabriel S, Willer C, Abecasis GR, Saleheen D, Dewey FE, Kathiresan S; Myocardial Infarction Genetics Consortium, DiscovEHR Study Group, CARDIoGRAM Exome Consortium, and Global Lipids Genetics Consortium. Khera AV, et al. Among authors: borecki ib. JAMA. 2017 Mar 7;317(9):937-946. doi: 10.1001/jama.2017.0972. JAMA. 2017. PMID: 28267856 Free PMC article.
Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease.
Dewey FE, Gusarova V, Dunbar RL, O'Dushlaine C, Schurmann C, Gottesman O, McCarthy S, Van Hout CV, Bruse S, Dansky HM, Leader JB, Murray MF, Ritchie MD, Kirchner HL, Habegger L, Lopez A, Penn J, Zhao A, Shao W, Stahl N, Murphy AJ, Hamon S, Bouzelmat A, Zhang R, Shumel B, Pordy R, Gipe D, Herman GA, Sheu WHH, Lee IT, Liang KW, Guo X, Rotter JI, Chen YI, Kraus WE, Shah SH, Damrauer S, Small A, Rader DJ, Wulff AB, Nordestgaard BG, Tybjærg-Hansen A, van den Hoek AM, Princen HMG, Ledbetter DH, Carey DJ, Overton JD, Reid JG, Sasiela WJ, Banerjee P, Shuldiner AR, Borecki IB, Teslovich TM, Yancopoulos GD, Mellis SJ, Gromada J, Baras A. Dewey FE, et al. Among authors: borecki ib. N Engl J Med. 2017 Jul 20;377(3):211-221. doi: 10.1056/NEJMoa1612790. Epub 2017 May 24. N Engl J Med. 2017. PMID: 28538136 Free PMC article. Clinical Trial.
A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease.
Abul-Husn NS, Cheng X, Li AH, Xin Y, Schurmann C, Stevis P, Liu Y, Kozlitina J, Stender S, Wood GC, Stepanchick AN, Still MD, McCarthy S, O'Dushlaine C, Packer JS, Balasubramanian S, Gosalia N, Esopi D, Kim SY, Mukherjee S, Lopez AE, Fuller ED, Penn J, Chu X, Luo JZ, Mirshahi UL, Carey DJ, Still CD, Feldman MD, Small A, Damrauer SM, Rader DJ, Zambrowicz B, Olson W, Murphy AJ, Borecki IB, Shuldiner AR, Reid JG, Overton JD, Yancopoulos GD, Hobbs HH, Cohen JC, Gottesman O, Teslovich TM, Baras A, Mirshahi T, Gromada J, Dewey FE. Abul-Husn NS, et al. Among authors: borecki ib. N Engl J Med. 2018 Mar 22;378(12):1096-1106. doi: 10.1056/NEJMoa1712191. N Engl J Med. 2018. PMID: 29562163 Free PMC article.
Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.
Gusarova V, O'Dushlaine C, Teslovich TM, Benotti PN, Mirshahi T, Gottesman O, Van Hout CV, Murray MF, Mahajan A, Nielsen JB, Fritsche L, Wulff AB, Gudbjartsson DF, Sjögren M, Emdin CA, Scott RA, Lee WJ, Small A, Kwee LC, Dwivedi OP, Prasad RB, Bruse S, Lopez AE, Penn J, Marcketta A, Leader JB, Still CD, Kirchner HL, Mirshahi UL, Wardeh AH, Hartle CM, Habegger L, Fetterolf SN, Tusie-Luna T, Morris AP, Holm H, Steinthorsdottir V, Sulem P, Thorsteinsdottir U, Rotter JI, Chuang LM, Damrauer S, Birtwell D, Brummett CM, Khera AV, Natarajan P, Orho-Melander M, Flannick J, Lotta LA, Willer CJ, Holmen OL, Ritchie MD, Ledbetter DH, Murphy AJ, Borecki IB, Reid JG, Overton JD, Hansson O, Groop L, Shah SH, Kraus WE, Rader DJ, Chen YI, Hveem K, Wareham NJ, Kathiresan S, Melander O, Stefansson K, Nordestgaard BG, Tybjærg-Hansen A, Abecasis GR, Altshuler D, Florez JC, Boehnke M, McCarthy MI, Yancopoulos GD, Carey DJ, Shuldiner AR, Baras A, Dewey FE, Gromada J. Gusarova V, et al. Among authors: borecki ib. Nat Commun. 2018 Jun 13;9(1):2252. doi: 10.1038/s41467-018-04611-z. Nat Commun. 2018. PMID: 29899519 Free PMC article.
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
Dewey FE, Murray MF, Overton JD, Habegger L, Leader JB, Fetterolf SN, O'Dushlaine C, Van Hout CV, Staples J, Gonzaga-Jauregui C, Metpally R, Pendergrass SA, Giovanni MA, Kirchner HL, Balasubramanian S, Abul-Husn NS, Hartzel DN, Lavage DR, Kost KA, Packer JS, Lopez AE, Penn J, Mukherjee S, Gosalia N, Kanagaraj M, Li AH, Mitnaul LJ, Adams LJ, Person TN, Praveen K, Marcketta A, Lebo MS, Austin-Tse CA, Mason-Suares HM, Bruse S, Mellis S, Phillips R, Stahl N, Murphy A, Economides A, Skelding KA, Still CD, Elmore JR, Borecki IB, Yancopoulos GD, Davis FD, Faucett WA, Gottesman O, Ritchie MD, Shuldiner AR, Reid JG, Ledbetter DH, Baras A, Carey DJ. Dewey FE, et al. Among authors: borecki ib. Science. 2016 Dec 23;354(6319):aaf6814. doi: 10.1126/science.aaf6814. Science. 2016. PMID: 28008009
Genetic identification of familial hypercholesterolemia within a single U.S. health care system.
Abul-Husn NS, Manickam K, Jones LK, Wright EA, Hartzel DN, Gonzaga-Jauregui C, O'Dushlaine C, Leader JB, Lester Kirchner H, Lindbuchler DM, Barr ML, Giovanni MA, Ritchie MD, Overton JD, Reid JG, Metpally RP, Wardeh AH, Borecki IB, Yancopoulos GD, Baras A, Shuldiner AR, Gottesman O, Ledbetter DH, Carey DJ, Dewey FE, Murray MF. Abul-Husn NS, et al. Among authors: borecki ib. Science. 2016 Dec 23;354(6319):aaf7000. doi: 10.1126/science.aaf7000. Science. 2016. PMID: 28008010
Protein-Truncating Variants at the Cholesteryl Ester Transfer Protein Gene and Risk for Coronary Heart Disease.
Nomura A, Won HH, Khera AV, Takeuchi F, Ito K, McCarthy S, Emdin CA, Klarin D, Natarajan P, Zekavat SM, Gupta N, Peloso GM, Borecki IB, Teslovich TM, Asselta R, Duga S, Merlini PA, Correa A, Kessler T, Wilson JG, Bown MJ, Hall AS, Braund PS, Carey DJ, Murray MF, Kirchner HL, Leader JB, Lavage DR, Manus JN, Hartze DN, Samani NJ, Schunkert H, Marrugat J, Elosua R, McPherson R, Farrall M, Watkins H, Juang JJ, Hsiung CA, Lin SY, Wang JS, Tada H, Kawashiri MA, Inazu A, Yamagishi M, Katsuya T, Nakashima E, Nakatochi M, Yamamoto K, Yokota M, Momozawa Y, Rotter JI, Lander ES, Rader DJ, Danesh J, Ardissino D, Gabriel S, Willer CJ, Abecasis GR, Saleheen D, Kubo M, Kato N, Ida Chen YD, Dewey FE, Kathiresan S. Nomura A, et al. Among authors: borecki ib. Circ Res. 2017 Jun 23;121(1):81-88. doi: 10.1161/CIRCRESAHA.117.311145. Epub 2017 May 15. Circ Res. 2017. PMID: 28506971 Free PMC article.
IDENTIFYING GENETIC ASSOCIATIONS WITH VARIABILITY IN METABOLIC HEALTH AND BLOOD COUNT LABORATORY VALUES: DIVING INTO THE QUANTITATIVE TRAITS BY LEVERAGING LONGITUDINAL DATA FROM AN EHR.
Verma SS, Lucas AM, Lavage DR, Leader JB, Metpally R, Krishnamurthy S, Dewey F, Borecki I, Lopez A, Overton J, Penn J, Reid J, Pendergrass SA, Breitwieser G, Ritchie MD. Verma SS, et al. Pac Symp Biocomput. 2017;22:533-544. doi: 10.1142/9789813207813_0049. Pac Symp Biocomput. 2017. PMID: 27897004 Free article.
Common variants associated with plasma triglycerides and risk for coronary artery disease.
Do R, Willer CJ, Schmidt EM, Sengupta S, Gao C, Peloso GM, Gustafsson S, Kanoni S, Ganna A, Chen J, Buchkovich ML, Mora S, Beckmann JS, Bragg-Gresham JL, Chang HY, Demirkan A, Den Hertog HM, Donnelly LA, Ehret GB, Esko T, Feitosa MF, Ferreira T, Fischer K, Fontanillas P, Fraser RM, Freitag DF, Gurdasani D, Heikkilä K, Hyppönen E, Isaacs A, Jackson AU, Johansson A, Johnson T, Kaakinen M, Kettunen J, Kleber ME, Li X, Luan J, Lyytikäinen LP, Magnusson PK, Mangino M, Mihailov E, Montasser ME, Müller-Nurasyid M, Nolte IM, O'Connell JR, Palmer CD, Perola M, Petersen AK, Sanna S, Saxena R, Service SK, Shah S, Shungin D, Sidore C, Song C, Strawbridge RJ, Surakka I, Tanaka T, Teslovich TM, Thorleifsson G, Van den Herik EG, Voight BF, Volcik KA, Waite LL, Wong A, Wu Y, Zhang W, Absher D, Asiki G, Barroso I, Been LF, Bolton JL, Bonnycastle LL, Brambilla P, Burnett MS, Cesana G, Dimitriou M, Doney AS, Döring A, Elliott P, Epstein SE, Eyjolfsson GI, Gigante B, Goodarzi MO, Grallert H, Gravito ML, Groves CJ, Hallmans G, Hartikainen AL, Hayward C, Hernandez D, Hicks AA, Holm H, Hung YJ, Illig T, Jones MR, Kaleebu P, Kastelein JJ, Khaw KT, Kim E, Klopp N, Komulainen P, Kumari M, Langenberg C, Leh… See abstract for full author list ➔ Do R, et al. Among authors: borecki ib. Nat Genet. 2013 Nov;45(11):1345-52. doi: 10.1038/ng.2795. Epub 2013 Oct 6. Nat Genet. 2013. PMID: 24097064 Free PMC article.
374 results