|Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data|
JC Denny, L Bastarache, MD Ritchie, RJ Carroll, R Zink, JD Mosley, ...
Nature biotechnology 31 (12), 1102-1111, 2013
|Rare and low-frequency coding variants alter human adult height|
E Marouli, M Graff, C Medina-Gomez, KS Lo, AR Wood, TR Kjaer, RS Fine, ...
Nature 542 (7640), 186-190, 2017
|Electronic medical records for genetic research: results of the eMERGE consortium|
AN Kho, JA Pacheco, PL Peissig, L Rasmussen, KM Newton, N Weston, ...
Science translational medicine 3 (79), 79re1-79re1, 2011
|Validation of electronic medical record-based phenotyping algorithms: results and lessons learned from the eMERGE network|
KM Newton, PL Peissig, AN Kho, SJ Bielinski, RL Berg, V Choudhary, ...
Journal of the American Medical Informatics Association 20 (e1), e147-e154, 2013
|Use of diverse electronic medical record systems to identify genetic risk for type 2 diabetes within a genome-wide association study|
AN Kho, MG Hayes, L Rasmussen-Torvik, JA Pacheco, WK Thompson, ...
Journal of the American Medical Informatics Association 19 (2), 212-218, 2012
|Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome-and phenome-wide studies|
JC Denny, DC Crawford, MD Ritchie, SJ Bielinski, MA Basford, Y Bradford, ...
The American Journal of Human Genetics 89 (4), 529-542, 2011
|PheKB: a catalog and workflow for creating electronic phenotype algorithms for transportability|
JC Kirby, P Speltz, LV Rasmussen, M Basford, O Gottesman, PL Peissig, ...
Journal of the American Medical Informatics Association 23 (6), 1046-1052, 2016
|Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity|
V Turcot, Y Lu, HM Highland, C Schurmann, AE Justice, RS Fine, ...
Nature genetics 50 (1), 26-41, 2018
|A genome-and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects|
K Shameer, JC Denny, K Ding, H Jouni, DR Crosslin, M De Andrade, ...
Human genetics 133 (1), 95-109, 2014
|Epidemiologic research in an integrated regional medical care system: the Marshfield Epidemiologic Study Area|
F Destefano, ED Eaker, SK Broste, DL Nordstrom, PL Peissig, ...
Journal of clinical epidemiology 49 (6), 643-652, 1996
|Importance of multi-modal approaches to effectively identify cataract cases from electronic health records|
PL Peissig, LV Rasmussen, RL Berg, JG Linneman, CA McCarty, ...
Journal of the American Medical Informatics Association 19 (2), 225-234, 2012
|Desiderata for computable representations of electronic health records-driven phenotype algorithms|
H Mo, WK Thompson, LV Rasmussen, JA Pacheco, G Jiang, R Kiefer, ...
Journal of the American Medical Informatics Association 22 (6), 1220-1230, 2015
|Analyzing the heterogeneity and complexity of Electronic Health Record oriented phenotyping algorithms|
M Conway, RL Berg, D Carrell, JC Denny, AN Kho, IJ Kullo, JG Linneman, ...
AMIA annual symposium proceedings 2011, 274, 2011
|Cardiometabolic effects of genetic upregulation of the interleukin 1 receptor antagonist: a Mendelian randomisation analysis|
Interleukin 1 Genetics Consortium
The Lancet Diabetes & Endocrinology 3 (4), 243-253, 2015
|Meta-analysis of genome-wide association studies for abdominal aortic aneurysm identifies four new disease-specific risk loci|
GT Jones, G Tromp, H Kuivaniemi, S Gretarsdottir, AF Baas, B Giusti, ...
Circulation research 120 (2), 341-353, 2017
|Practical challenges in integrating genomic data into the electronic health record|
AN Kho, LV Rasmussen, JJ Connolly, PL Peissig, J Starren, ...
Genetics in Medicine 15 (10), 772-778, 2013
|Use of an electronic medical record for the identification of research subjects with diabetes mellitus|
RA Wilke, RL Berg, P Peissig, T Kitchner, B Sijercic, CA McCarty, ...
Clinical medicine & research 5 (1), 1-7, 2007
|Knowledge-driven multi-locus analysis reveals gene-gene interactions influencing HDL cholesterol level in two independent EMR-linked biobanks|
SD Turner, RL Berg, JG Linneman, PL Peissig, DC Crawford, JC Denny, ...
PloS one 6 (5), e19586, 2011
|CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record|
BH Shirts, JS Salama, SJ Aronson, WK Chung, SW Gray, LA Hindorff, ...
Journal of the American Medical Informatics Association 22 (6), 1231-1242, 2015
|Phenome-wide association studies demonstrating pleiotropy of genetic variants within FTO with and without adjustment for body mass index|
RM Cronin, JR Field, Y Bradford, CM Shaffer, RJ Carroll, JD Mosley, ...
Frontiers in genetics 5, 250, 2014