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MyCode Selected Publications

PheWAS and Beyond: The Landscape of Associations with Medical Diagnoses and Clinical Measures across 38,662 Individuals from Geisinger

American Journal of Human Genetics, 2018

Anurag Verma, Anastasia Lucas, Shefali S. Verma, Yu Zhang, Navya Josyula, Anqa Khan, Dustin N. Hartzel, Daniel R. Lavage, Joseph Leader, Marylyn D. Ritchie, Sarah A. Pendergrass. The American Journal of Human Genetics, Volume 102, Issue 4, 592 - 608. 5 April 2018. Full text

A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease

The New England Journal of Medicine, 2018

Noura S. Abul-Husn, M.D., Ph.D., Xiping Cheng, M.D., Ph.D., Alexander H. Li, Ph.D., Yurong Xin, Ph.D., Claudia Schurmann, Ph.D., Panayiotis Stevis, Ph.D., Yashu Liu, Ph.D., Julia Kozlitina, Ph.D., Stefan Stender, M.D., Ph.D., G. Craig Wood, M.S., Ann N. Stepanchick, Ph.D., Matthew D. Still, Shane McCarthy, Ph.D., Colm O’Dushlaine, Ph.D., Jonathan S. Packer, B.S., Suganthi Balasubramanian, Ph.D., Nehal Gosalia, Ph.D., David Esopi, M.S., Sun Y. Kim, B.A., Semanti Mukherjee, Ph.D., Alexander E. Lopez, M.S., Erin D. Fuller, B.S., John Penn, M.S., Xin Chu, Ph.D., Jonathan Z. Luo, B.S., Uyenlinh L. Mirshahi, Ph.D., David J. Carey, Ph.D., Christopher D. Still, D.O., Michael D. Feldman, M.D., Ph.D., Aeron Small, B.A., Scott M. Damrauer, M.D., Daniel J. Rader, M.D., Brian Zambrowicz, Ph.D., William Olson, Ph.D., Andrew J. Murphy, Ph.D., Ingrid B. Borecki, Ph.D., Alan R. Shuldiner, M.D., Jeffrey G. Reid, Ph.D., John D. Overton, Ph.D., George D. Yancopoulos, M.D., Ph.D., Helen H. Hobbs, M.D., Jonathan C. Cohen, Ph.D., Omri Gottesman, M.D., Tanya M. Teslovich, Ph.D., Aris Baras, M.D., Tooraj Mirshahi, Ph.D., Jesper Gromada, Ph.D., D.M.Sc., and Frederick E. Dewey, M.D. N Engl J Med 2018; 378:1096-1106 DOI: 10.1056/NEJMoa1712191 2018 Mar 22. 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 
  


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 

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 DJMurray MFKirchner HLLeader JBLavage DRManus JNHartzel 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 DJKirchner 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 

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 RPendergrass SAGiovanni MAKirchner HL; Balasubramanian S; Abul-Husn NS; Hartzel DNLavage DRKost KA; Packer JS; Lopez AE; Penn J; Mukherjee S; Gosalia N; Kanagaraj M; Li AH; Mitnaul LJ; Adams LJPerson 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 KAStill CDElmore JR; Borecki IB; Yancopoulos GD; Davis FDFaucett 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

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

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 JBMurray MF; Ritchie MD; Kirchner HLLedbetter 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 


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

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

American Journal of Medical Genetics, 2014

Wade JELedbetter DHWilliams 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