MyCode Selected Publications

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

Science, 2016

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*. Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study. Science. 354(6319), 2016 Dec 23. Full text


Genetic identification of familial hypercholesterolemia within a single U.S. health care system

Science, 2016

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*. Genetic identification of familial hypercholesterolemia within a single U.S. health care system. Science. 354(6319), 2016 Dec 23. Full text

Genetic and pharmacologic inactivation of ANGPTL3 and cardiovascular disease

New England Journal of Medicine, 2017

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; Tybjaerg-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. Genetic and pharmacologic inactivation of ANGPTL3 and cardiovascular disease. New England Journal of Medicine. 377(3):211-221, 2017 Jul 20. Full text 
 

Inactivating variants in ANGPTL4 and risk of coronary artery disease

New England Journal of Medicine, 2016

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. Inactivating variants in ANGPTL4 and risk of coronary artery disease. New England Journal of Medicine. 374(12):1123-33, 2016 Mar 24. Full text 
 

Association of rare and common variation in the lipoprotein lipase gene with coronary artery disease

JAMA, 2017

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. Association of rare and common variation in the lipoprotein lipase gene with coronary artery disease. JAMA. 317(9):937-946, 2017 Mar 7. Full text 
 

Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets

Nature Genetics, 2017

Wain LV; Shrine N; Artigas MS; Erzurumluoglu AM; Noyvert B; Bossini-Castillo L; Obeidat M; Henry AP; Portelli MA; Hall RJ; Billington CK; Rimington TL; Fenech AG; John C; Blake T; Jackson VE; Allen RJ; Prins BP; Understanding Society Scientific Group; Campbell A; Porteous DJ; Jarvelin MR; Wielscher M; James AL; Hui J; Wareham NJ; Zhao JH; Wilson JF; Joshi PK; Stubbe B; Rawal R; Schulz H; Imboden M; Probst-Hensch NM; Karrasch S; Gieger C; Deary IJ; Harris SE; Marten J; Rudan I; Enroth S; Gyllensten U; Kerr SM; Polasek O; Kahonen M; Surakka I; Vitart V; Hayward C; Lehtimaki T; Raitakari OT; Evans DM; Henderson AJ; Pennell CE; Wang CA; Sly PD; Wan ES; Busch R; Hobbs BD; Litonjua AA; Sparrow DW; Gulsvik A; Bakke PS; Crapo JD; Beaty TH; Hansel NN; Mathias RA; Ruczinski I; Barnes KC; Bosse Y; Joubert P; van den Berge M; Brandsma CA; Pare PD; Sin DD; Nickle DC; Hao K; Gottesman O; Dewey FE; Bruse SE; Carey DJ*; Kirchner HL*; Geisinger-Regeneron DiscovEHR Collaboration; Jonsson S; Thorleifsson G; Jonsdottir I; Gislason T; Stefansson K; Schurmann C; Nadkarni G; Bottinger EP; Loos RJ; Walters RG; Chen Z; Millwood IY; Vaucher J; Kurmi OP; Li L; Hansell AL; Brightling C; Zeggini E; Cho MH; Silverman EK; Sayers I; Trynka G; Morris AP; Strachan DP; Hall IP; Tobin MD. Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets. Nature Genetics. 49(3):416-425, 2017 Mar. Full text 

Protein-truncating variants at the cholesteryl ester transfer protein gene and risk for coronary heart disease

Circulation Research, 2017

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*; Hartzel 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. Protein-truncating variants at the cholesteryl ester transfer protein gene and risk for coronary heart disease. Circulation Research. 121(1):81-88, 2017 Jun 23. Full text 

The Geisinger MyCode community health initiative: an electronic health record-linked biobank for precision medicine research

Genetics in Medicine, 2016

Carey DJ*; Fetterolf SN*; Davis FD*; Faucett WA*; Kirchner HL*; Mirshahi U*; Murray MF*; Smelser DT*; Gerhard GS; Ledbetter DH*. The Geisinger MyCode community health initiative: an electronic health record-linked biobank for precision medicine research. Genetics in Medicine. 18(9):906-13, 2016 Sep. Full text 

Implementation of genomic medicine in a health care delivery system: a value proposition?

American Journal of Medical Genetics, 2014

Wade JE*; Ledbetter DH*; Williams MS*. Implementation of genomic medicine in a health care delivery system: a value proposition? American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 166C(1):112-6, 2014 Mar. Full text
 

How Geisinger made the case for an institutional duty to return genomic results to biobank participants

Applied & Translational Genomics, 2016

Faucett WA*; Davis FD*. How Geisinger made the case for an institutional duty to return genomic results to biobank participants. Applied & Translational Genomics. 8:33-5, 2016 Mar. Full text