Faculty Individual – Robert M. Berne Cardiovascular Research Center

Stephen S. Rich

Email: ssr4n@virginia.edu
Phone: 434-243-7356
Fax: 434-982-1815

Primary Appointment

Professor, Public Health Sciences

Education

PhD, Genetics, Purdue University

Research Disciplines

Bioinformatics and Genomics, Biology, Cardiovascular Biology, Epigenetics, Genetics, Immunology, Translational Science

Research Interests

Genetic basis of common human disease, including type 1 diabetes, diabetic complications, ischemic stroke, atherosclerosis

Research Description

Dr. Rich's research is centered on understanding the genetic epidemiology of complex human disease, including the genes contributing to atherosclerosis, stroke and intermediate phenotypes (risk factors). These studies range from estimating the familial aggregation of disease and subclinical markers of disease within families, to gene mapping, gene discovery and functional significance of the gene variants. In the realm of atherosclerosis and risk factors, the primary study population is the Multi-Ethnic Study of Atherosclerosis (MESA), a collection of ~6,000 adults (aged 45+) without evidence of clinical disease. These subjects (Caucasian, African-American, Hispanic-American, Chinese-American) have extensive imaging, biomarker and clinical longitudinal data, as well as DNA for genetic studies. Currently, over 200 candidate genes related to atherosclerosis are being assessed, and both a genome-wide association scan (1 million SNPs) and linkage scan (6K SNPs in families) are being used to discover new genes and pathways. Examination of the genetic contribution to risk of ischemic stroke is the primary focus of the Siblings With Ischemic Stroke Study (SWISS) and the Ischemic Stroke Genetic Study (ISGS). Family-based linkage (SWISS), candidate gene (SWISS, ISGS) and genome-wide association (ISGS) methods have been utilized to detect stroke susceptibility genes. A primary goal of these research efforts is to identify novel genes and pathways that can serve a predictors of risk, identify those at highest risk of disease and, therefore, amenable to intervention, and to develop models of disease through manipulation of these genes and thus identify potential therapeutic targets.

Personal Statement

Dr. Rich's research is centered on understanding the genetic epidemiology of complex human disease, including the genes contributing to atherosclerosis, stroke and intermediate phenotypes (risk factors). These studies range from estimating the familial aggregation of disease and subclinical markers of disease within families, to gene mapping, gene discovery and functional significance of the gene variants. In the realm of atherosclerosis and risk factors, the primary study population is the Multi-Ethnic Study of Atherosclerosis (MESA), a collection of ~6,000 adults (aged 45+) without evidence of clinical disease. These subjects (Caucasian, African-American, Hispanic-American, Chinese-American) have extensive imaging, biomarker and clinical longitudinal data, as well as DNA for genetic studies. Currently, over 200 candidate genes related to atherosclerosis are being assessed, and both a genome-wide association scan (1 million SNPs) and linkage scan (6K SNPs i n families) are being used to discover new genes and pathways. Examination of the genetic contribution to risk of ischemic stroke is the primary focus of the Siblings With Ischemic Stroke Study (SWISS) and the Ischemic Stroke Genetic Study (ISGS). Family-based linkage (SWISS), candidate gene (SWISS, ISGS) and genome-wide association (ISGS) methods have been utilized to detect stroke susceptibility genes. A primary goal of these research efforts is to identify novel genes and pathways that can serve a predictors of risk, identify those at highest risk of disease and, therefore, amenable to intervention, and to develop models of disease through manipulation of these genes and thus identify potential therapeutic targets.

Training

Basic Cardiovascular Research Training Grant
Global Infectious Disease Research Training Grant at UVa

Selected Publications

2024

Felton, J. L., Redondo, M. J., Oram, R. A., Speake, C., Long, S. A., Onengut-Gumuscu, S., . . . Franks, P. W. (2024). Islet autoantibodies as precision diagnostic tools to characterize heterogeneity in type 1 diabetes: a systematic review. COMMUNICATIONS MEDICINE, 4(1). doi:10.1038/s43856-024-00478-y

Lundin, J. I., Peters, U., Hu, Y., Ammous, F., Avery, C. L., Benjamin, E. J., . . . PAGE Study. (2024). Methylation patterns associated with C-reactive protein in racially and ethnically diverse populations.. Epigenetics, 19(1), 2333668. doi:10.1080/15592294.2024.2333668

Xiao, S., Li, V. L., Lyu, X., Chen, X., Wei, W., Abbasi, F., . . . Long, J. Z. (2024). Lac-Phe mediates the effects of metformin on food intake and body weight. NATURE METABOLISM. doi:10.1038/s42255-024-00999-9

Shetty, N. S., Pampana, A., Patel, N., Yerabolu, K., Patel, G., Irvin, M. R., . . . Arora, P. (2024). Sex Differences in the Association of Multiethnic Genome-Wide Blood Pressure Polygenic Risk Score With Population-Level Systolic Blood Pressure Trajectories.. Circulation. Genomic and precision medicine, e004515. doi:10.1161/circgen.123.004515

Peterson, T. E., Hahn, V. S., Moaddel, R., Zhu, M., Haberlen, S. A., Palella, F. J., . . . Post, W. S. (2024). Proteomic Signature of HIV-Associated Subclinical Left Atrial Remodeling and Incident Heart Failure.. medRxiv. doi:10.1101/2024.02.13.24302797

Guertin, K. A., Repaske, D. R., Taylor, J. F., Williams, E. S., Onengut-Gumuscu, S., Chen, W. -M., . . . Rich, S. S. (2024). Implementation of type 1 diabetes genetic risk screening in children in diverse communities: the Virginia PrIMeD project. GENOME MEDICINE, 16(1). doi:10.1186/s13073-024-01305-8

Higbee, D. H., Lirio, A., Hamilton, F., Granell, R., Wyss, A. B., London, S. J., . . . Dodd, J. W. (2024). Genome-wide association study of preserved ratio impaired spirometry (PRISm). EUROPEAN RESPIRATORY JOURNAL, 63(1). doi:10.1183/13993003.00337-2023

2023

Jakubek, Y. A., Zhou, Y., Stilp, A., Bacon, J., Wong, J. W., Ozcan, Z., . . . Auer, P. L. (2023). Mosaic chromosomal alterations in blood across ancestries using whole-genome sequencing. NATURE GENETICS, 55(11), 1912-+. doi:10.1038/s41588-023-01553-1

Pershad, Y., Mack, T., Poisner, H., Jakubek, Y. A., Stilp, A. M., Mitchell, B. D., . . . Bick, A. G. (2023). Determinants of mosaic chromosomal alteration fitness.. medRxiv. doi:10.1101/2023.10.20.23297280

Tobias, D. K., Merino, J., Ahmad, A., Aiken, C., Benham, J. L., Bodhini, D., . . . Franks, P. W. (2023). Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine. NATURE MEDICINE, 29(10), 2438-2457. doi:10.1038/s41591-023-02502-5

Shrine, N., Izquierdo, A. G., Chen, J., Packer, R., Hall, R. J., Guyatt, A. L., . . . Tobin, M. D. (2023). Author Correction: Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk.. Nature genetics, 55(10), 1778-1779. doi:10.1038/s41588-023-01531-7

Zhang, X., Brody, J. A., Graff, M., Highland, H. M., Chami, N., Xu, H., . . . Justice, A. E. (2023). WHOLE GENOME SEQUENCING ANALYSIS OF BODY MASS INDEX IDENTIFIES NOVEL AFRICAN ANCESTRY-SPECIFIC RISK ALLELE.. medRxiv. doi:10.1101/2023.08.21.23293271

Ha, E. T., Taylor, K. D., Raffield, L. M., Briggs, M., Yee, A., Elemento, O., . . . Aronow, W. S. (2023). The Relationship of Duffy Gene Polymorphism, High Sensitivity C-Reactive Protein, and Long-term Outcomes.. medRxiv. doi:10.1101/2023.08.03.23293626

Shabani, M., Wang, M., Jenkins, G. D., Rotter, J. I., Rich, S. S., Batzler, A., . . . Pereira, N. L. (2023). Myocardial Fibrosis and Cardiomyopathy Risk: A Genetic Link in the MESA. CIRCULATION-HEART FAILURE, 16(9), 818-828. doi:10.1161/CIRCHEARTFAILURE.122.010262

Kwak, S. H., Hernandez-Cancela, R. B., DiCorpo, D. A., Condon, D. E., Merino, J., Wu, P., . . . Meigs, J. B. (2023). Time-to-Event Genome-Wide Association Study for Incident Cardiovascular Disease in People with Type 2 Diabetes Mellitus.. medRxiv. doi:10.1101/2023.07.25.23293180

Leiser, C. L., Whitsel, E. A., Reiner, A., Rich, S. S., Rotter, J. I., Taylor, K. D., . . . Kaufman, J. D. (2023). Associations between Ambient Air Pollutants and Clonal Hematopoiesis of Indeterminate Potential. CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION, 32(10), 1470-1473. doi:10.1158/1055-9965.EPI-23-0305

Kasela, S., Aguet, F., Kim-Hellmuth, S., Brown, B. C., Nachun, D. C., Tracy, R. P., . . . Lappalainen, T. (2023). Interaction molecular QTL mapping discovers cellular and environmental modifiers of genetic regulatory effects.. bioRxiv. doi:10.1101/2023.06.26.546528

Weinstock, J. S., Laurie, C. A., Broome, J. G., Taylor, K. D., Guo, X., Shuldiner, A. R., . . . Bick, A. G. (2023). The genetic determinants of recurrent somatic mutations in 43,693 blood genomes. SCIENCE ADVANCES, 9(17). doi:10.1126/sciadv.abm4945

Weinstock, J. S., Gopakumar, J., Burugula, B. B., Uddin, M. M., Jahn, N., Belk, J. A., . . . Jaiswal, S. (2023). Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis. NATURE, 616(7958), 755-+. doi:10.1038/s41586-023-05806-1

Kahn, S. E., Anderson, C. A. M., Atkinson, M. A., Bakris, G. L., Buse, J. B., Hu, F. B., . . . Selvin, E. (2023). Reducing Bias in Academic Publishing: The Diabetes Care Approach. DIABETES CARE, 46(4), 665-666. doi:10.2337/dci23-0014

Hou, K., Ding, Y., Xu, Z., Wu, Y., Bhattacharya, A., Mester, R., . . . Pasaniuc, B. (2023). Causal effects on complex traits are similar for common variants across segments of different continental ancestries within admixed individuals. NATURE GENETICS, 55(4), 549-+. doi:10.1038/s41588-023-01338-6

Shrine, N., Izquierdo, A. G., Chen, J., Packer, R., Hall, R. J., Guyatt, A. L., . . . Tobin, M. (2023). Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk. NATURE GENETICS, 55(3), 410-+. doi:10.1038/s41588-023-01314-0

Yang, C., Veenstra, J., Bartz, T., Pahl, M., Hallmark, B., Chen, Y. -D. I., . . . Manichaikul, A. (2023). Genome-Wide Association Studies and fine-mapping of genomic loci for n-3 and n-6 Polyunsaturated Fatty Acids in Hispanic American and African American Cohorts.. Res Sq. doi:10.21203/rs.3.rs-2073736/v1

Jun, G., English, A. C., Metcalf, G. A., Yang, J., Chaisson, M. J., Pankratz, N., . . . Sedlazeck, F. J. (2023). Structural variation across 138,134 samples in the TOPMed consortium.. Res Sq. doi:10.21203/rs.3.rs-2515453/v1

Chen, F., Wang, X., Jang, S. -K., Quach, B. C., Weissenkampen, J. D., Khunsriraksakul, C., . . . Liu, D. J. (2023). Multi-ancestry transcriptome-wide association analyses yield insights into tobacco use biology and drug repurposing. NATURE GENETICS, 55(2), 291-+. doi:10.1038/s41588-022-01282-x

de Vries, P. S., Conomos, M. P., Singh, K., Nicholson, C. J., Jain, D., Hasbani, N. R., . . . Malhotra, R. (2023). Whole-genome sequencing uncovers two loci for coronary artery calcification and identifies ARSE as a regulator of vascular calcification. NATURE CARDIOVASCULAR RESEARCH, 2(12), 1159-+. doi:10.1038/s44161-023-00375-y

Hasbani, N. R., Westerman, K. E., Kwak, S. H., Chen, H., Li, X., Di Corpo, D., . . . de Vries, P. S. (2023). Type 2 Diabetes Modifies the Association of CAD Genomic Risk Variants With Subclinical Atherosclerosis. CIRCULATION-GENOMIC AND PRECISION MEDICINE, 16(6). doi:10.1161/CIRCGEN.123.004176

Tin, A., Fohner, A. E., Yang, Q., Brody, J. A., Davies, G., Yao, J., . . . Fornage, M. (2023). Identification of circulating proteins associated with general cognitive function among middle-aged and older adults. COMMUNICATIONS BIOLOGY, 6(1). doi:10.1038/s42003-023-05454-1

Felton, J. L., Griffin, K. J., Oram, R. A., Speake, C., Long, S. A., Onengut-Gumuscu, S., . . . Sims, E. K. (2023). Disease-modifying therapies and features linked to treatment response in type 1 diabetes prevention: a systematic review. COMMUNICATIONS MEDICINE, 3(1). doi:10.1038/s43856-023-00357-y

Liu, X., Sun, X., Zhang, Y., Jiang, W., Lai, M., Wiggins, K. L., . . . Liu, C. (2023). Association Between Whole Blood-Derived Mitochondrial DNA Copy Number, Low-Density Lipoprotein Cholesterol, and Cardiovascular Disease Risk. JOURNAL OF THE AMERICAN HEART ASSOCIATION, 12(20). doi:10.1161/JAHA.122.029090

Feofanova, E. V., Brown, M. R., Alkis, T., Manuel, A. M., Li, X., Tahir, U. A., . . . Boerwinkle, E. (2023). Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations. NATURE COMMUNICATIONS, 14(1). doi:10.1038/s41467-023-38800-2

Hong, Y. S., Battle, S. L., Shi, W., Puiu, D., Pillalamarri, V., Xie, J., . . . Arking, D. E. (2023). Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality. NATURE COMMUNICATIONS, 14(1). doi:10.1038/s41467-023-41785-7

Newman, J. R. B., Long, S. A., Speake, C., Greenbaum, C. J., Cerosaletti, K., Rich, S. S., . . . Concannon, P. (2023). Shifts in isoform usage underlie transcriptional differences in regulatory T cells in type 1 diabetes. COMMUNICATIONS BIOLOGY, 6(1). doi:10.1038/s42003-023-05327-7

Yang, C., Veenstra, J., Bartz, T. M., Pahl, M. C., Hallmark, B., Chen, Y. -D. I., . . . Manichaikul, A. (2023). Genome-wide association studies and fine-mapping identify genomic loci for n-3 and n-6 polyunsaturated fatty acids in Hispanic American and African American cohorts. COMMUNICATIONS BIOLOGY, 6(1). doi:10.1038/s42003-023-05219-w

Yu, Z., Fidler, T. P., Ruan, Y., Vlasschaert, C., Nakao, T., Uddin, M. M., . . . Natarajan, P. (2023). Genetic modification of inflammation- and clonal hematopoiesis-associated cardiovascular risk. JOURNAL OF CLINICAL INVESTIGATION, 133(18). doi:10.1172/JCI168597

Momin, S. R., Senn, M. K., Manichaikul, A., Yang, C., Mathias, R., Phan, M., . . . Wood, A. C. (2023). Dietary Sources of Linoleic Acid (LA) Differ by Race/Ethnicity in Adults Participating in the National Health and Nutrition Examination Survey (NHANES) between 2017-2018. NUTRIENTS, 15(12). doi:10.3390/nu15122779

Hill, A. C., Guo, C., Litkowski, E. M., Manichaikul, A. W., Yu, B., Konigsberg, I. R., . . . Bowler, R. P. (2023). Large scale proteomic studies create novel privacy considerations. SCIENTIFIC REPORTS, 13(1). doi:10.1038/s41598-023-34866-6

Kurniansyah, N., Goodman, M. O., Khan, A. T., Wang, J., Feofanova, E., Bis, J. C., . . . Sofer, T. (2023). Evaluating the use of blood pressure polygenic risk scores across race/ethnic background groups. NATURE COMMUNICATIONS, 14(1). doi:10.1038/s41467-023-38990-9

McGroder, C. F., Hansen, S., Stukovsky, K. H., Zhang, D., Nath, P. H., Salvatore, M. M., . . . Garcia, C. K. (2023). Incidence of interstitial lung abnormalities: the MESA Lung Study. EUROPEAN RESPIRATORY JOURNAL, 61(6). doi:10.1183/13993003.01950-2022

Zhang, Y., Dron, J. S., Bellows, B. K., Khera, A. V., Liu, J., Balte, P. P., . . . Moran, A. E. (2023). Association of Severe Hypercholesterolemia and Familial Hypercholesterolemia Genotype With Risk of Coronary Heart Disease. CIRCULATION, 147(20), 1556-1559. doi:10.1161/CIRCULATIONAHA.123.064168

Michalek, D. A., Onengut-Gumuscu, S., Repaske, D. R., & Rich, S. S. (2023). Precision Medicine in Type 1 Diabetes. JOURNAL OF THE INDIAN INSTITUTE OF SCIENCE, 103(1), 335-351. doi:10.1007/s41745-023-00356-x

Thorsen, S. U., Liu, X., Kataria, Y., Mandrup-Poulsen, T., Kaur, S., Uusitalo, U., . . . Svensson, J. (2023). Interaction Between Dietary Iron Intake and Genetically Determined Iron Overload: Risk of Islet Autoimmunity and Progression to Type 1 Diabetes in the TEDDY Study. DIABETES CARE, 46(5), 1014-1018. doi:10.2337/dc22-1359

Kurniansyah, N., Wallace, D. A., Zhang, Y., Yu, B., Cade, B., Wang, H., . . . Sofer, T. (2023). An integrated multi-omics analysis of sleep-disordered breathing traits implicates P2XR4 purinergic signaling. COMMUNICATIONS BIOLOGY, 6(1). doi:10.1038/s42003-023-04520-y

Kim, J. S., Kim, J., Yin, X., Hiura, G. T., Anderson, M. R., Hoffman, E. A., . . . Oelsner, E. C. (2023). Associations of hiatus hernia with CT-based interstitial lung changes: the MESA Lung Study. EUROPEAN RESPIRATORY JOURNAL, 61(1). doi:10.1183/13993003.03173-2021

2022

Li, X., Quick, C., Zhou, H., Gaynor, S. M., Liu, Y., Chen, H., . . . Lin, X. (2023). Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies. NATURE GENETICS, 55(1), 154-+. doi:10.1038/s41588-022-01225-6

Wheeler, M. M., Stilp, A. M., Rao, S., Halldorsson, B. V., Beyter, D., Wen, J., . . . Reiner, A. P. (2022). Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program. NATURE COMMUNICATIONS, 13(1). doi:10.1038/s41467-022-35354-7

Mishra, A., Malik, R., Hachiya, T., JÃ¼rgenson, T., Namba, S., Posner, D. C., . . . Debette, S. (2022). Publisher Correction: Stroke genetics informs drug discovery and risk prediction across ancestries.. Nature, 612(7938), E7. doi:10.1038/s41586-022-05492-5

Li, Z., Li, X., Zhou, H., Gaynor, S. M., Selvaraj, M. S., Arapoglou, T., . . . Lin, X. (2022). A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies. NATURE METHODS, 19(12), 1599-+. doi:10.1038/s41592-022-01640-x

Selvaraj, M. S., Li, X., Li, Z., Pampana, A., Zhang, D. Y., Park, J., . . . Natarajan, P. (2022). Whole genome sequence analysis of blood lipid levels in >66,000 individuals. NATURE COMMUNICATIONS, 13(1). doi:10.1038/s41467-022-33510-7

Khera, A. V., Wang, M., Chaffin, M., Emdin, C. A., Samani, N. J., Schunkert, H., . . . Kathiresan, S. (2022). Gene Sequencing Identifies Perturbation in Nitric Oxide Signaling as a Nonlipid Molecular Subtype of Coronary Artery Disease. CIRCULATION-GENOMIC AND PRECISION MEDICINE, 15(6), 551-559. doi:10.1161/CIRCGEN.121.003598

Mishra, A., Malik, R., Hachiya, T., Jurgenson, T., Namba, S., Posner, D. C., . . . Debette, S. (2022). Stroke genetics informs drug discovery and risk prediction across ancestries. NATURE, 611(7934), 115-+. doi:10.1038/s41586-022-05165-3

Thibord, F., Klarin, D., Brody, J. A., Chen, M. -H., Levin, M. G., Chasman, D. I., . . . Smith, N. L. (2022). Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors. CIRCULATION, 146(16), 1225-1242. doi:10.1161/CIRCULATIONAHA.122.059675

Weedon, M. N., Jones, S. E., Lane, J. M., Lee, J., Ollila, H. M., Dawes, A., . . . Wood, A. R. (2022). The impact of Mendelian sleep and circadian genetic variants in a population setting. PLOS GENETICS, 18(9). doi:10.1371/journal.pgen.1010356

Tahir, U. A., Katz, D. H., Avila-Pachecho, J., Bick, A. G., Pampana, A., Robbins, J. M., . . . Gerszten, R. E. (2022). Whole Genome Association Study of the Plasma Metabolome Identifies Metabolites Linked to Cardiometabolic Disease in Black Individuals. NATURE COMMUNICATIONS, 13(1). doi:10.1038/s41467-022-32275-3

Cui, J., Ramesh, G., Wu, M., Jensen, E. T., Crago, O., Bertoni, A. G., . . . Goodarzi, M. O. (2022). Butyrate-Producing Bacteria and Insulin Homeostasis: The Microbiome and Insulin Longitudinal Evaluation Study (MILES). DIABETES, 71(11), 2438-2446. doi:10.2337/db22-0168

Kim, J. S., Manichaikul, A. W., Hoffman, E. A., Balte, P., Anderson, M. R., Bernstein, E. J., . . . Podolanczuk, A. J. (2023). MUC5B, telomere length and longitudinal quantitative interstitial lung changes: the MESA Lung Study. THORAX, 78(6), 566-573. doi:10.1136/thorax-2021-218139

Patel, R. A., Musharoff, S. A., Spence, J. P., Pimentel, H., Tcheandjieu, C., Mostafavi, H., . . . Pritchard, J. K. (2022). Genetic interactions drive heterogeneity in causal variant effect sizes for gene expression and complex traits. AMERICAN JOURNAL OF HUMAN GENETICS, 109(7), 1286-1297. doi:10.1016/j.ajhg.2022.05.014

Domingo-Relloso, A., Makhani, K., Riffo-Campos, A. L., Tellez-Plaza, M., Klein, K. O., Subedi, P., . . . Navas-Acien, A. (2022). Arsenic Exposure, Blood DNA Methylation, and Cardiovascular Disease. CIRCULATION RESEARCH, 131(2), E51-E69. doi:10.1161/CIRCRESAHA.122.320991

Battle, S. L., Puiu, D., Boerwinkle, E., Taylor, K. D., Rotter, J. I., Rich, S. S., . . . Broer, L. (2022). A bioinformatics pipeline for estimating mitochondrial DNA copy number and heteroplasmy levels from whole genome sequencing data. NAR GENOMICS AND BIOINFORMATICS, 4(2). doi:10.1093/nargab/lqac034

Huang, L., Rosen, J. D., Sun, Q., Chen, J., Wheeler, M. M., Zhou, Y., . . . Li, Y. (2022). TOP-LD: A tool to explore linkage disequilibrium with TOPMed whole-genome sequence data. AMERICAN JOURNAL OF HUMAN GENETICS, 109(6), 1175-1181. doi:10.1016/j.ajhg.2022.04.006

Mahajan, A., Spracklen, C. N., Zhang, W., Ng, M. C. Y., Petty, L. E., Kitajima, H., . . . Morris, A. P. (2022). Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation. NATURE GENETICS, 54(5), 560-+. doi:10.1038/s41588-022-01058-3

Nakao, T., Bick, A. G., Taub, M. A., Zekavat, S. M., Uddin, M. M., Niroula, A., . . . Natarajan, P. (2022). Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of indeterminate potential. SCIENCE ADVANCES, 8(14). doi:10.1126/sciadv.abl6579

Sims, E. K., Besser, R. E. J., Dayan, C., Rasmussen, C. G., Greenbaum, C., Griffin, K. J., . . . Herold, K. C. (2022). Screening for Type 1 Diabetes in the General Population: A Status Report and Perspective. DIABETES, 71(4), 610-623. doi:10.2337/dbi20-0054

Torn, C., Liu, X., Onengut-Gumuscu, S., Counts, K. M., Moreno, J. L., Remedios, C. L., . . . Parikh, H. M. (2022). Telomere length is not a main factor for the development of islet autoimmunity and type 1 diabetes in the TEDDY study. SCIENTIFIC REPORTS, 12(1). doi:10.1038/s41598-022-08058-7

Wainschtein, P., Jain, D., Zheng, Z., Cupples, L. A., Shadyab, A. H., McKnight, B., . . . Visscher, P. M. (2022). Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data. NATURE GENETICS, 54(3), 263-+. doi:10.1038/s41588-021-00997-7

He, K. Y., Kelly, T. N., Wang, H., Liang, J., Zhu, L., Cade, B. E., . . . Zhu, X. (2022). Rare coding variants in RCN3 are associated with blood pressure. BMC GENOMICS, 23(1). doi:10.1186/s12864-022-08356-4

Wang, H., Kurniansyah, N., Cade, B., Goodman, M., Gottlieb, D., Gharib, S., . . . Sofer, T. (2022). UPREGULATED HEME BIOSYNTHESIS INCREASES OBSTRUCTIVE SLEEP APNEA SEVERITY: A PATHWAY-BASED MENDELIAN RANDOMIZATION STUDY. SLEEP MEDICINE, 100, S287.

Taub, M. A., Conomos, M. P., Keener, R., Iyer, K. R., Weinstock, J. S., Yanek, L. R., . . . Mathias, R. A. (2022). Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed. CELL GENOMICS, 2(1). doi:10.1016/j.xgen.2021.100084

Parcha, V., Pampana, A., Shetty, N. S. S., Irvin, M. R. R., Natarajan, P., Lin, H. J. J., . . . Arora, P. (2022). Association of a Multiancestry Genome-Wide Blood Pressure Polygenic Risk Score With Adverse Cardiovascular Events. CIRCULATION-GENOMIC AND PRECISION MEDICINE, 15(6), 580-593. doi:10.1161/CIRCGEN.122.003946

Selvaraj, M. S., Paruchuri, K., Haidermota, S., Bernardo, R., Rich, S. S., Peloso, G. M., & Natarajan, P. (2022). Genome-wide discovery for diabetes-dependent triglycerides-associated loci. PLOS ONE, 17(10). doi:10.1371/journal.pone.0275934

Halford, J. L., Morrill, V. N., Choi, S. H., Jurgens, S. J., Melloni, G., Marston, N. A., . . . Lubitz, S. A. (2022). Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes (vol 13, 5106, 2022). NATURE COMMUNICATIONS, 13(1). doi:10.1038/s41467-022-33534-z

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Wood, A. C., Jensen, E. T., Bertoni, A. G., Ramesh, G., Rich, S. S., Rotter, J. I., . . . Goodarzi, M. O. (2021). Defining the Relative Role of Insulin Clearance in Early Dysglycemia in Relation to Insulin Sensitivity and Insulin Secretion: The Microbiome and Insulin Longitudinal Evaluation Study (MILES). METABOLITES, 11(7). doi:10.3390/metabo11070420

Zhao, L. P., Papadopoulos, G. K., Lybrand, T. P., Moustakas, A. K., Bondinas, G. P., Carlsson, A., . . . Lernmark, A. (2021). The KAG motif of HLA-DRB1 (Î²71, Î²74, Î²86) predicts seroconversion and development of type 1 diabetes. EBIOMEDICINE, 69. doi:10.1016/j.ebiom.2021.103431

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Natarajan, P., Pampana, A., Graham, S. E., Ruotsalainen, S. E., Perry, J. A., de Vries, P. S., . . . Kuopio, T. (2021). Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices. NATURE COMMUNICATIONS, 12(1). doi:10.1038/s41467-021-22339-1

Feinstein, M. J., Doyle, M. F., Stein, J. H., Sitlani, C. M., Fohner, A. E., Huber, S. A., . . . Delaney, J. A. C. (2021). Nonclassical Monocytes (CD14dimCD16+) Are Associated With Carotid Intima-Media Thickness Progression for Men but Not Women The Multi-Ethnic Study of Atherosclerosis-Brief Report. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, 41(5), 1810-1817. doi:10.1161/ATVBAHA.120.315886

Miller, R. G., Orchard, T. J., Onengut-Gumuscu, S., Chen, W. -M., Rich, S. S., & Costacou, T. (2021). Heterogeneous long-term trajectories of glycaemic control in type 1 diabetes. DIABETIC MEDICINE, 38(8). doi:10.1111/dme.14545

Niinisto, S., Erlund, I., Lee, H. -S., Uusitalo, U., Salminen, I., Aronsson, C. A., . . . Virtanen, S. M. (2021). Children's erythrocyte fatty acids are associated with the risk of islet autoimmunity. SCIENTIFIC REPORTS, 11(1). doi:10.1038/s41598-021-82200-9

Collins, R. L., Brand, H., Karczewski, K. J., Zhao, X., Alfoldi, J., Francioli, L. C., . . . Talkowski, M. E. (2021). A structural variation reference for medical and population genetics (vol 581, pg 444, 2020). NATURE, 590(7846), E55. doi:10.1038/s41586-020-03176-6

Miller, R. G., McGurnaghan, S. J., Onengut-Gumuscu, S., Chen, W. -M., Colhoun, H. M., Rich, S. S., . . . Costacou, T. (2021). Insulin resistance-associated genetic variants in type 1 diabetes. JOURNAL OF DIABETES AND ITS COMPLICATIONS, 35(4). doi:10.1016/j.jdiacomp.2020.107842

Lin, B. M., Grinde, K. E., Brody, J. A., Breeze, C. E., Raffield, L. M., Mychaleckyj, J. C., . . . Franceschini, N. (2021). Whole genome sequence analyses of eGFR in 23,732 people representing multiple ancestries in the NHLBI trans-omics for precision medicine (TOPMed) consortium. EBIOMEDICINE, 63. doi:10.1016/j.ebiom.2020.103157

Riddle, M. C., Bakris, G., Blonde, L., Boulton, A. J. M., D'Alessio, D., DiMeglio, L. A., . . . Wylie-Rosett, J. (2021). A Lesson From 2020: Public Health Matters for Both COVID-19 and Diabetes. DIABETES CARE, 44(1), 8-10. doi:10.2337/dci20-0071

Laker, R. C., Altintas, A., Lillard, T. S., Zhang, M., Connelly, J. J., Sabik, O. L., . . . Yan, Z. (2021). Exercise during pregnancy mitigates negative effects of parental obesity on metabolic function in adult mouse offspring. JOURNAL OF APPLIED PHYSIOLOGY, 130(3), 605-616. doi:10.1152/japplphysiol.00641.2020

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2020

Nielsen, J. B., Rom, O., Surakka, I., Graham, S. E., Zhou, W., Roychowdhury, T., . . . Hveem, K. (2020). Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease. NATURE COMMUNICATIONS, 11(1). doi:10.1038/s41467-020-20086-3

Sidore, C., Orru, V., Cocco, E., Steri, M., Inshaw, J. R. J., Pitzalis, M., . . . Zoledziewska, M. (2021). PRF1 mutation alters immune system activation, inflammation, and risk of autoimmunity. MULTIPLE SCLEROSIS JOURNAL, 27(9), 1332-1340. doi:10.1177/1352458520963937

Chen, M. -H., Raffield, L. M., Mousas, A., Sakaue, S., Huffman, J. E., Moscati, A., . . . Lettre, G. (2020). Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations. CELL, 182(5), 1198-+. doi:10.1016/j.cell.2020.06.045

Vuckovic, D., Bao, E. L., Akbari, P., Lareau, C. A., Mousas, A., Jiang, T., . . . Soranzo, N. (2020). The Polygenic and Monogenic Basis of Blood Traits and Diseases. CELL, 182(5), 1214-+. doi:10.1016/j.cell.2020.08.008

Li, X., Li, Z., Zhou, H., Gaynor, S. M., Liu, Y., Chen, H., . . . Lin, X. (2020). Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale. NATURE GENETICS, 52(9), 969-+. doi:10.1038/s41588-020-0676-4

Jensen, E. T., Bertoni, A. G., Crago, O. L., Hoffman, K. L., Wood, A. C., Arzumanyan, Z., . . . Goodarzi, M. O. (2020). Rationale, design and baseline characteristics of the Microbiome and Insulin Longitudinal Evaluation Study (MILES). DIABETES OBESITY & METABOLISM, 22(11), 1976-1984. doi:10.1111/dom.14145

Grant, S. F. A., Wells, A. D., & Rich, S. S. (2020). Next steps in the identification of gene targets for type 1 diabetes. DIABETOLOGIA, 63(11), 2260-2269. doi:10.1007/s00125-020-05248-8

Ferrat, L. A., Vehik, K., Sharp, S. A., Lernmark, A., Rewers, M. J., She, J. -X., . . . Hagopian, W. A. (2020). A combined risk score enhances prediction of type 1 diabetes among susceptible children. NATURE MEDICINE, 26(8), 1247-+. doi:10.1038/s41591-020-0930-4

Keene, K. L., Hyacinth, H. I., Bis, J. C., Kittner, S. J., Mitchell, B. D., Cheng, Y. -C., . . . Fornage, M. (2020). Genome-Wide Association Study Meta-Analysis of Stroke in 22 000 Individuals of African Descent Identifies Novel Associations With Stroke. STROKE, 51(8), 2454-2463. doi:10.1161/STROKEAHA.120.029123

Moll, M., Sakornsakolpat, P., Shrine, N., Hobbs, B. D., DeMeo, D. L., John, C., . . . Cho, M. H. (2020). Chronic obstructive pulmonary disease and related phenotypes: polygenic risk scores in population-based and case-control cohorts. LANCET RESPIRATORY MEDICINE, 8(7), 696-708.

Chung, W. K., Erion, K., Florez, J. C., Hattersley, A. T., Hivert, M. -F., Lee, C. G., . . . Franks, P. W. (2020). Precision medicine in diabetes:a Consensus Report from the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD). DIABETOLOGIA, 63(9), 1671-1693. doi:10.1007/s00125-020-05181-w

Raffield, L. M., Dang, H., Pratte, K. A., Jacobson, S., Gillenwater, L. A., Ampleford, E., . . . Bowler, R. P. (2020). Comparison of Proteomic Assessment Methods in Multiple Cohort Studies. PROTEOMICS, 20(12). doi:10.1002/pmic.201900278

Abel, H. J., Larson, D. E., Regier, A. A., Chiang, C., Das, I., Kanchi, K. L., . . . Hall, I. M. (2020). Mapping and characterization of structural variation in 17,795 human genomes. NATURE, 583(7814), 83-+. doi:10.1038/s41586-020-2371-0

Pirruccello, J. P., Bick, A., Wang, M., Chaffin, M., Friedman, S., Yao, J., . . . Aragam, K. G. (2020). Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy. NATURE COMMUNICATIONS, 11(1). doi:10.1038/s41467-020-15823-7

Collins, R. L., Brand, H., Karczewski, K. J., Zhao, X., Alfoldi, J., Francioli, L. C., . . . Talkowski, M. E. (2020). A structural variation reference for medical and population genetics. NATURE, 581(7809), 444-+. doi:10.1038/s41586-020-2287-8

Mosley, J. D., Gupta, D. K., Tan, J., Yao, J., Wells, Q. S., Shaffer, C. M., . . . Wang, T. J. (2020). Predictive Accuracy of a Polygenic Risk Score Compared With a Clinical Risk Score for Incident Coronary Heart Disease. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 323(7), 627-635. doi:10.1001/jama.2019.21782

Li, Q., Parikh, H., Butterworth, M. D., Lernmark, A., Hagopian, W., Rewers, M., . . . Krischer, J. P. (2020). Longitudinal Metabolome-Wide Signals Prior to the Appearance of a First Islet Autoantibody in Children Participating in the TEDDY Study. DIABETES, 69(3), 465-476. doi:10.2337/db19-0756

Hahn, J., Fu, Y. -P., Brown, M. R., Bis, J. C., de Vries, P. S., Feitosa, M. F., . . . Morrison, A. C. (2020). Genetic loci associated with prevalent and incident myocardial infarction and coronary heart disease in the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. PLOS ONE, 15(11). doi:10.1371/journal.pone.0230035

Riddle, M. C., Philipson, L. H., Rich, S. S., Carlsson, A., Franks, P. W., Greeley, S. A. W., . . . Hattersley, A. T. (2020). Monogenic Diabetes: From Genetic Insights to Population-Based Precision in Care. Reflections From a Diabetes Care Editors' Expert Forum. DIABETES CARE, 43(12), 3117-3128. doi:10.2337/dci20-0065

Brenner, L. N., Mercader, J. M., Robertson, C. C., Cole, J., Chen, L., Jacobs, S. B. R., . . . Florez, J. C. (2020). Analysis of Glucocorticoid-Related Genes Reveal CCHCR1 as a New Candidate Gene for Type 2 Diabetes. JOURNAL OF THE ENDOCRINE SOCIETY, 4(11). doi:10.1210/jendso/bvaa121

Onengut-Gumuscu, S., Paila, U., Chen, W. -M., Ratan, A., Zhu, Z., Steck, A. K., . . . Rich, S. S. (2020). Novel genetic risk factors influence progression of islet autoimmunity to type 1 diabetes. SCIENTIFIC REPORTS, 10(1). doi:10.1038/s41598-020-75690-6

Zhao, X., Qiao, D., Yang, C., Kasela, S., Kim, W., Ma, Y., . . . Manichaikul, A. (2020). Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants. NATURE COMMUNICATIONS, 11(1). doi:10.1038/s41467-020-18334-7

Sun, T., Gonzalez, T. L., Deng, N., DiPentino, R., Clark, E. L., Lee, B., . . . Pisarska, M. D. (2020). Sexually Dimorphic Crosstalk at the Maternal-Fetal Interface. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 105(12). doi:10.1210/clinem/dgaa503

Chung, W. K., Erion, K., Florez, J. C., Hattersley, A. T., Hivert, M. -F., Lee, C. G., . . . Franks, P. W. (2020). Precision Medicine in Diabetes: A Consensus Report From the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD). DIABETES CARE, 43(7), 1617-1635. doi:10.2337/dci20-0022

Sofer, T., Li, R., Joehanes, R., Lin, H., Gower, A. C., Wang, H., . . . Gottlieb, D. J. (2020). Low oxygen saturation during sleep reduces CD1D and RAB20 expressions that are reversed by CPAP therapy. EBIOMEDICINE, 56. doi:10.1016/j.ebiom.2020.102803

Wang, Z., Chen, H., Bartz, T. M., Bielak, L. F., Chasman, D. I., Feitosa, M. F., . . . Morrison, A. C. (2020). Role of Rare and Low-Frequency Variants in Gene-Alcohol Interactions on Plasma Lipid Levels. CIRCULATION-GENOMIC AND PRECISION MEDICINE, 13(4). doi:10.1161/CIRCGEN.119.002772

Cui, D., Drake, J. C., Wilson, R. J., Shute, R. J., Lewellen, B., Zhang, M., . . . Yan, Z. (2020). A novel voluntary weightlifting model in mice promotes muscle adaptation and insulin sensitivity with simultaneous enhancement of autophagy and mTOR pathway. FASEB JOURNAL, 34(6), 7330-7344. doi:10.1096/fj.201903055R

Zekavat, S. M., Ruotsalainen, S., Handsaker, R. E., Alver, M., Bloom, J., Poterba, T., . . . Natarajan, P. (2020). Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries (vol 9, 2606, 2018). NATURE COMMUNICATIONS, 11(1). doi:10.1038/s41467-020-15236-6

Gutierrez-Arcelus, M., Baglaenko, Y., Arora, J., Hannes, S., Luo, Y., Amariuta, T., . . . Raychaudhuri, S. (2020). Allele-specific expression changes dynamically during T cell activation in HLA and other autoimmune loci. NATURE GENETICS, 52(3), 247-+. doi:10.1038/s41588-020-0579-4

Olson, N. C., Doyle, M. F., Sitlani, C. M., de Boer, I. H., Rich, S. S., Huber, S. A., . . . Delaney, J. A. (2020). Associations of Innate and Adaptive Immune Cell Subsets With Incident Type 2 Diabetes Risk: The MESA Study. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 105(3), E848-E857. doi:10.1210/clinem/dgaa036

Wojcik, G. L., Korpe, P., Marie, C., Mentzer, A. J., Carstensen, T., Mychaleckyj, J., . . . Duggal, P. (2020). Genome-Wide Association Study of Cryptosporidiosis in Infants Implicates PRKCA. MBIO, 11(1). doi:10.1128/mBio.03343-19

Raffield, L. M., Iyengar, A. K., Wang, B., Gaynor, S. M., Spracklen, C. N., Zhong, X., . . . Auer, P. L. (2020). Allelic Heterogeneity at the CRP Locus Identified by Whole-Genome Sequencing in Multi-ancestry Cohorts. AMERICAN JOURNAL OF HUMAN GENETICS, 106(1), 112-120. doi:10.1016/j.ajhg.2019.12.002

Mattila, M., Erlund, I., Lee, H. -S., Niinisto, S., Uusitalo, U., Andren Aronsson, C., . . . Virtanen, S. M. (2020). Plasma ascorbic acid and the risk of islet autoimmunity and type 1 diabetes: the TEDDY study. DIABETOLOGIA, 63(2), 278-286. doi:10.1007/s00125-019-05028-z

2019

Kowalski, M. H., Qian, H., Hou, Z., Rosen, J. D., Tapia, A. L., Shan, Y., . . . Li, Y. (2019). Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations. PLOS GENETICS, 15(12). doi:10.1371/journal.pgen.1008500

Hobbs, B. D., Putman, R. K., Araki, T., Nishino, M., Gudmundsson, G., Gudnason, V., . . . Viviano, L. (2019). Overlap of Genetic Risk between Interstitial Lung Abnormalities and Idiopathic Pulmonary Fibrosis. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 200(11), 1402-1413. doi:10.1164/rccm.201903-0511OC

Clark, D. W., Okada, Y., Moore, K. H. S., Mason, D., Pirastu, N., Gandin, I., . . . Wilson, J. F. (2019). Associations of autozygosity with a broad range of human phenotypes. NATURE COMMUNICATIONS, 10. doi:10.1038/s41467-019-12283-6

Salem, R. M., Todd, J. N., Sandholm, N., Cole, J. B., Chen, W. -M., Andrews, D., . . . Florez, J. C. (2019). Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 30(10), 2000-2016. doi:10.1681/ASN.2019030218

Psaty, B. M., Rich, S. S., & Boerwinkle, E. (2019). Innovation in Genomic Data Sharing at the NIH. NEW ENGLAND JOURNAL OF MEDICINE, 380(23), 2192-2195. doi:10.1056/NEJMp1902363

Flannick, J., Mercader, J. M., Fuchsberger, C., Udler, M. S., Mahajan, A., Wessel, J., . . . Boehnke, M. (2019). Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls. NATURE, 570(7759), 71-+. doi:10.1038/s41586-019-1231-2

Guan, M., Keaton, J. M., Dimitrov, L., Hicks, P. J., Xu, J., Palmer, N. D., . . . Spielman, R. (2019). Genome-wide association study identifies novel loci for type 2 diabetes-attributed end-stage kidney disease in African Americans. HUMAN GENOMICS, 13. doi:10.1186/s40246-019-0205-7

Li, X., Liu, Y., Rich, S. S., Rotter, J. I., Redline, S., & Sofer, T. (2019). 0291 Sleep Disordered Breathing Associated with Epigenetic Age Acceleration: Evidence from the Multi-Ethnic Study of Atherosclerosis. Sleep, 42(Supplement_1), A118-A119. doi:10.1093/sleep/zsz067.290

Bentley, A. R., Sung, Y. J., Brown, M. R., Winkler, T. W., Kraja, A. T., Ntalla, I., . . . Cupples, L. A. (2019). Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids. NATURE GENETICS, 51(4), 636-+. doi:10.1038/s41588-019-0378-y

Khera, A. V., Chaffin, M., Zekavat, S. M., Collins, R. L., Roselli, C., Natarajan, P., . . . Kathiresan, S. (2019). Whole-Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized With Early-Onset Myocardial Infarction. CIRCULATION, 139(13), 1593-1602. doi:10.1161/CIRCULATIONAHA.118.035658

Xu, J., Gaddis, N. C., Bartz, T. M., Hou, R., Manichaikul, A. W., Pankratz, N., . . . Hancock, D. B. (2019). Omega-3 Fatty Acids and Genome-Wide Interaction Analyses Reveal DPP10-Pulmonary Function Association. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 199(5), 631-642. doi:10.1164/rccm.201802-0304OC

Sakornsakolpat, P., Prokopenko, D., Lamontagne, M., Reeve, N. F., Guyatt, A. L., Jackson, V. E., . . . Zeigler-Heitbrock, L. (2019). Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations. NATURE GENETICS, 51(3), 494-+. doi:10.1038/s41588-018-0342-2

Jacobsen, L. M., Larsson, H. E., Tamura, R. N., Vehik, K., Clasen, J., Sosenko, J., . . . Triplett, E. (2019). Predicting progression to type 1 diabetes from ages 3 to 6 in islet autoantibody positive TEDDY children. PEDIATRIC DIABETES, 20(3), 263-270. doi:10.1111/pedi.12812

de Vries, P. S., Brown, M. R., Bentley, A. R., Sung, Y. J., Winkler, T. W., Ntalla, I., . . . Morrison, A. C. (2019). Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions. AMERICAN JOURNAL OF EPIDEMIOLOGY, 188(6), 1033-1054. doi:10.1093/aje/kwz005

Kilpelainen, T. O., Bentley, A. R., Noordam, R., Sung, Y. J., Schwander, K., Winkler, T. W., . . . Loos, R. J. F. (2019). Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity. NATURE COMMUNICATIONS, 10. doi:10.1038/s41467-018-08008-w

He, K. Y., Li, X., Kelly, T. N., Liang, J., Cade, B. E., Assimes, T. L., . . . Zhu, X. (2019). Leveraging linkage evidence to identify low-frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing data. HUMAN GENETICS, 138(2), 199-210. doi:10.1007/s00439-019-01975-0

Hippich, M., Beyerlein, A., Hagopian, W. A., Krischer, J. P., Vehik, K., Knoop, J., . . . Ziegler, A. -G. (2019). Genetic Contribution to the Divergence in Type 1 Diabetes Risk Between Children From the General Population and Children From Affected Families. DIABETES, 68(4), 847-857. doi:10.2337/db18-0882

Sharp, S. A., Rich, S. S., Wood, A. R., Jones, S. E., Beaumont, R. N., Harrison, J. W., . . . Oram, R. A. (2019). Development and Standardization of an Improved Type 1 Diabetes Genetic Risk Score for Use in Newborn Screening and Incident Diagnosis. DIABETES CARE, 42(2), 200-207. doi:10.2337/dc18-1785

Larsson, S. C., Traylor, M., Burgess, S., Boncoraglio, G. B., Jern, C., Michaelsson, K., & Markus, H. S. (2019). Serum magnesium and calcium levels in relation to ischemic stroke Mendelian randomization study. NEUROLOGY, 92(9), E944-E950. doi:10.1212/WNL.0000000000007001

Kachroo, P., Hecker, J., Chawes, B. L., Ahluwalia, T. S., Cho, M. H., Qiao, D., . . . Zoellner, S. (2019). Whole Genome Sequencing Identifies CRISPLD2 as a Lung Function Gene in Children With Asthma. CHEST, 156(6), 1068-1079. doi:10.1016/j.chest.2019.08.2202

Khera, A. V., Mason-Suares, H., Brockman, D., Wang, M., VanDenburgh, M. J., Senol-Cosar, O., . . . Kathiresan, S. (2019). Rare Genetic Variants Associated With Sudden Cardiac Death in Adults. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 74(21), 2623-2634. doi:10.1016/j.jacc.2019.08.1060

Li, X., Joehanes, R., Hoeschele, I., Rich, S. S., Rotter, J. I., Levy, D., . . . Sofer, T. (2019). Association between sleep disordered breathing and epigenetic age acceleration: Evidence from the Multi-Ethnic Study of Atherosclerosis. EBIOMEDICINE, 50, 387-394. doi:10.1016/j.ebiom.2019.11.020

Noordam, R., Bos, M. M., Wang, H., Winkler, T. W., Bentley, A. R., Kilpelainen, T. O., . . . Redline, S. (2019). Multi-ancestry sleep-by-SNP interaction analysis in 126,926 individuals reveals lipid loci stratified by sleep duration. NATURE COMMUNICATIONS, 10. doi:10.1038/s41467-019-12958-0

Liang, J., Cade, B. E., He, K. Y., Wang, H., Lee, J., Sofer, T., . . . Zhu, X. (2019). Sequencing Analysis at 8p23 Identifies Multiple Rare Variants in DLC1 Associated with Sleep-Related Oxyhemoglobin Saturation Level. AMERICAN JOURNAL OF HUMAN GENETICS, 105(5), 1057-1068. doi:10.1016/j.ajhg.2019.10.002

Sarnowski, C., Leong, A., Raffield, L. M., Wu, P., de Vries, P. S., DiCorpo, D., . . . Meigs, J. B. (2019). Impact of Rare and Common Genetic Variants on Diabetes Diagnosis by Hemoglobin A1c in Multi-Ancestry Cohorts: The Trans-Omics for Precision Medicine Program. AMERICAN JOURNAL OF HUMAN GENETICS, 105(4), 706-718. doi:10.1016/j.ajhg.2019.08.010

McKeigue, P. M., Spiliopoulou, A., McGurnaghan, S., Colombo, M., Blackbourn, L., McDonald, T., . . . Colhoun, H. M. (2019). Persistent C-peptide secretion in Type 1 diabetes and its relationship to the genetic architecture of diabetes. BMC MEDICINE, 17(1). doi:10.1186/s12916-019-1392-8

Stanfill, B., Reehl, S., Bramer, L., Nakayasu, E. S., Rich, S. S., Metz, T. O., . . . Webb-Robertson, B. -J. (2019). Extending Classification Algorithms to Case-Control Studies. BIOMEDICAL ENGINEERING AND COMPUTATIONAL BIOLOGY, 10. doi:10.1177/1179597219858954

Huang, T., Sun, D., Heianza, Y., Bergholdt, H. K. M., Gao, M., Fang, Z., . . . Qi, L. (2019). Dairy Intake and Body Composition and Cardiometabolic Traits among Adults: Mendelian Randomization Analysis of 182041 Individuals from 18 Studies. CLINICAL CHEMISTRY, 65(6), 751-760. doi:10.1373/clinchem.2018.300335

Acevedo-Calado, M. J., Pietropaolo, S. L., Morran, M. P., Schnell, S., Vonberg, A. D., Verge, C. F., . . . Pietropaolo, M. (2019). Autoantibodies Directed Toward a Novel IA-2 Variant Protein Enhance Prediction of Type 1 Diabetes. DIABETES, 68(9), 1819-1829. doi:10.2337/db18-1351

Malik, R., Chauhan, G., Traylor, M., Sargurupremraj, M., Okada, Y., Mishra, A., . . . Dichgans, M. (2019). Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes (vol 50, pg 524, 2018). NATURE GENETICS, 51(7), 1192-1193. doi:10.1038/s41588-019-0449-0

Chauhan, G., Adams, H. H. H., Satizabal, C. L., Bis, J. C., Teumer, A., Sargurupremraj, M., . . . Debette, S. (2019). Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting. NEUROLOGY, 92(5), E486-E503. doi:10.1212/WNL.0000000000006851

Oelsner, E. C., Ortega, V. E., Smith, B. M., Nguyen, J. N., Manichaikul, A. W., Hoffman, E. A., . . . Barr, R. G. (2019). A Genetic Risk Score Associated with Chronic Obstructive Pulmonary Disease Susceptibility and Lung Structure on Computed Tomography. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 200(6), 721-731. doi:10.1164/rccm.201812-2355OC

Marini, S., Crawford, K., Morotti, A., Lee, M. J., Pezzini, A., Moomaw, C. J., . . . Sheth, K. (2019). Association of Apolipoprotein E With Intracerebral Hemorrhage Risk by Race/Ethnicity A Meta-analysis. JAMA NEUROLOGY, 76(4), 480-491. doi:10.1001/jamaneurol.2018.4519

Onengut-Gumuscu, S., Chen, W. -M., Robertson, C. C., Bonnie, J. K., Farber, E., Zhu, Z., . . . Rich, S. S. (2019). Type 1 Diabetes Risk in African-Ancestry Participants and Utility of an Ancestry-Specific Genetic Risk Score. DIABETES CARE, 42(3), 406-415. doi:10.2337/dc18-1727

Chen, H., Huffman, J. E., Brody, J. A., Wang, C., Lee, S., Li, Z., . . . Lin, X. (2019). Efficient Variant Set Mixed Model Association Tests for Continuous and Binary Traits in Large-Scale Whole-Genome Sequencing Studies. AMERICAN JOURNAL OF HUMAN GENETICS, 104(2), 260-274. doi:10.1016/j.ajhg.2018.12.012

Lee, B., Koeppel, A. F., Wang, E. T., Gonzalez, T. L., Sun, T., Kroener, L., . . . Pisarska, M. D. (2019). Differential gene expression during placentation in pregnancies conceived with different fertility treatments compared with spontaneous pregnancies. FERTILITY AND STERILITY, 111(3), 535-546. doi:10.1016/j.fertnstert.2018.11.005

Morris, A. P., Le, T. H., Wu, H., Akbarov, A., van der Most, P. J., Hemani, G., . . . Franceschini, N. (2019). Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies. NATURE COMMUNICATIONS, 10. doi:10.1038/s41467-018-07867-7

Sun, T., Lee, B., Kinchen, J., Wang, E. T., Gonzalez, T. L., Chan, J. L., . . . Pisarska, M. D. (2019). Differences in First-Trimester Maternal Metabolomic Profiles in Pregnancies Conceived From Fertility Treatments. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 104(4), 1005-1019. doi:10.1210/jc.2018-01118

Skupien, J., Smiles, A. M., Valo, E., Ahluwalia, T. S., Gyorgy, B., Sandholm, N., . . . Krolewski, A. S. (2019). Variations in Risk of End-Stage Renal Disease and Risk of Mortality in an International Study of Patients With Type 1 Diabetes and Advanced Nephropathy. DIABETES CARE, 42(1), 93-101. doi:10.2337/dc18-1369

Merino, J., Dashti, H. S., Li, S. X., Sarnowski, C., Justice, A. E., Graff, M., . . . Tanaka, T. (2019). Genome-wide meta-analysis of macronutrient intake of 91,114 European ancestry participants from the cohorts for heart and aging research in genomic epidemiology consortium. MOLECULAR PSYCHIATRY, 24(12), 1920-1932. doi:10.1038/s41380-018-0079-4

2018

Marquez, A., Kerick, M., Zhernakova, A., Gutierrez-Achury, J., Chen, W. -M., Onengut-Gumuscu, S., . . . Martin, J. (2018). Meta-analysis of Immunochip data of four autoimmune diseases reveals novel single-disease and cross-phenotype associations. GENOME MEDICINE, 10. doi:10.1186/s13073-018-0604-8

Da Mesquita, S., Louveau, A., Vaccari, A., Smirnov, I., Cornelison, R. C., Kingsmore, K. M., . . . Kipnis, J. (2018). Publisher Correction: Functional aspects of meningeal lymphatics in ageing and Alzheimer's disease.. Nature, 564(7734), E7. doi:10.1038/s41586-018-0689-7

Prokopenko, D., Sakornsakolpat, P., Fier, H. L., Qiao, D., Parker, M. M., McDonald, M. -L. N., . . . Cho, M. H. (2018). Whole-Genome Sequencing in Severe Chronic Obstructive Pulmonary Disease. AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY, 59(5), 614-622. doi:10.1165/rcmb.2018-0088OC

Rewers, M., Hyoty, H., Lernmark, A., Hagopian, W., She, J. -X., Schatz, D., . . . Krischer, J. (2018). The Environmental Determinants of Diabetes in the Young (TEDDY) Study: 2018 Update. CURRENT DIABETES REPORTS, 18(12). doi:10.1007/s11892-018-1113-2

Beyerlein, A., Bonifacio, E., Vehik, K., Hippich, M., Winkler, C., Frohnert, B. I., . . . Ziegler, A. -G. (2019). Progression from islet autoimmunity to clinical type 1 diabetes is influenced by genetic factors: results from the prospective TEDDY study. JOURNAL OF MEDICAL GENETICS, 56(9), 602-605. doi:10.1136/jmedgenet-2018-105532

Rosenthal, E. A., Shirts, B. H., Amendola, L. M., Horike-Pyne, M., Robertson, P. D., Hisama, F. M., . . . Jarvik, G. P. (2018). Rare loss of function variants in candidate genes and risk of colorectal cancer. HUMAN GENETICS, 137(10), 795-806. doi:10.1007/s00439-018-1938-4

Wojcik, G. L., Marie, C., Abhyankar, M. M., Yoshida, N., Watanabe, K., Mentzer, A. J., . . . Duggal, P. (2018). Genome-Wide Association Study Reveals Genetic Link between Diarrhea-Associated Entamoeba histolytica Infection and Inflammatory Bowel Disease. MBIO, 9(5). doi:10.1128/mBio.01668-18

Westra, H. -J., Martinez-Bonet, M., Onengut-Gumuscu, S., Lee, A., Luol, Y., Teslovich, N., . . . Raychaudhuri, S. (2018). Fine-mapping and functional studies highlight potential causal variants for rheumatoid arthritis and type 1 diabetes. NATURE GENETICS, 50(10), 1366-+. doi:10.1038/s41588-018-0216-7

Xu, J., Bartz, T. M., Chittoor, G., Eiriksdottir, G., Manichaikul, A. W., Sun, F., . . . Cassano, P. A. (2018). Meta-analysis across Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium provides evidence for an association of serum vitamin D with pulmonary function. BRITISH JOURNAL OF NUTRITION, 120(10), 1159-1170. doi:10.1017/S0007114518002180

Natarajan, P., Peloso, G. M., Zekavat, S. M., Montasser, M., Ganna, A., Chaffin, M., . . . Kathiresan, S. (2018). Deep-coverage whole genome sequences and blood lipids among 16,324 individuals. NATURE COMMUNICATIONS, 9. doi:10.1038/s41467-018-05747-8

Wyss, A. B., Sofer, T., Lee, M. K., Terzikhan, N., Nguyen, J. N., Lahousse, L., . . . London, S. J. (2018). Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function. NATURE COMMUNICATIONS, 9. doi:10.1038/s41467-018-05369-0

Da Mesquita, S., Louveau, A., Vaccari, A., Smirnov, I., Cornelison, R. C., Kingsmore, K. M., . . . Kipnis, J. (2018). Functional aspects of meningeal lymphatics in ageing and Alzheimer's disease. NATURE, 560(7717), 185-+. doi:10.1038/s41586-018-0368-8

Burkart, K. M., Sofer, T., London, S. J., Manichaikul, A., Hartwig, F. P., Yan, Q., . . . Barr, R. G. (2018). A Genome-Wide Association Study in Hispanics/Latinos Identifies Novel Signals for Lung Function The Hispanic Community Health Study/Study of Latinos. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 198(2), 208-219. doi:10.1164/rccm.201707-1493OC

van Zuydam, N. R., Ahlqvist, E., Sandholm, N., Deshmukh, H., Rayner, N. W., Abdalla, M., . . . McCarthy, M. I. (2018). A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes. DIABETES, 67(7), 1414-1427. doi:10.2337/db17-0914

Keaton, J. M., Gao, C., Guan, M., Hellwege, J. N., Palmer, N. D., Pankow, J. S., . . . Bowden, D. W. (2018). Genome-wide interaction with the insulin secretion locus MTNR1B reveals CMIP as a novel type 2 diabetes susceptibility gene in African Americans. GENETIC EPIDEMIOLOGY, 42(6), 559-570. doi:10.1002/gepi.22126

Emdin, C. A., Khera, A. V., Chaffin, M., Klarin, D., Natarajan, P., Aragam, K., . . . Kathiresan, S. (2018). Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease. NATURE COMMUNICATIONS, 9. doi:10.1038/s41467-018-03911-8

Mahajan, A., Wessel, J., Willems, S. M., Zhao, W., Robertson, N. R., Chu, A. Y., . . . McCarthy, M. I. (2018). Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes. NATURE GENETICS, 50(4), 559-+. doi:10.1038/s41588-018-0084-1

Bonifacio, E., Beyerlein, A., Hippich, M., Winkler, C., Vehik, K., Weedon, M. N., . . . Ziegler, A. -G. (2018). Genetic scores to stratify risk of developing multiple islet autoantibodies and type 1 diabetes: A prospective study in children. PLOS MEDICINE, 15(4). doi:10.1371/journal.pmed.1002548

Malik, R., Chauhan, G., Traylor, M., Sargurupremraj, M., Okada, Y., Mishra, A., . . . Dichgans, M. (2018). Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes. NATURE GENETICS, 50(4), 524-+. doi:10.1038/s41588-018-0058-3

Smith, B. M., Traboulsi, H., Austin, J. H. M., Manichaikul, A., Hoffman, E. A., Bleecker, E. R., . . . Barr, R. G. (2018). Human airway branch variation and chronic obstructive pulmonary disease. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 115(5), E974-E981. doi:10.1073/pnas.1715564115

Gonzalez, T. L., Sun, T., Koeppel, A. F., Lee, B., Wang, E. T., Farber, C. R., . . . Pisarska, M. D. (2018). Sex differences in the late first trimester Mark human placenta transcriptome. BIOLOGY OF SEX DIFFERENCES, 9. doi:10.1186/s13293-018-0165-y

Raffield, L. M., Ellis, J., Olson, N. C., Duan, Q., Li, J., Durda, P., . . . Lange, L. A. (2018). Genome-wide association study of homocysteine in African Americans from the Jackson Heart Study, the Multi-Ethnic Study of Atherosclerosis, and the Coronary Artery Risk in Young Adults study. JOURNAL OF HUMAN GENETICS, 63(3), 327-337. doi:10.1038/s10038-017-0384-9

Sharma, A., Liu, X., Hadley, D., Hagopian, W., Chen, W. -M., Onengut-Gumuscu, S., . . . She, J. -X. (2018). Identification of non-HLA genes associated with development of islet autoimmunity and type 1 diabetes in the prospective TEDDY cohort. JOURNAL OF AUTOIMMUNITY, 89, 90-100. doi:10.1016/j.jaut.2017.12.008

Franceschini, N., Giambartolomei, C., de Vries, P. S., Finan, C., Bis, J. C., Huntley, R. P., . . . O'Donnell, C. J. (2018). GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes. NATURE COMMUNICATIONS, 9. doi:10.1038/s41467-018-07340-5

Jackson, V. E., Latourelle, J. C., Wain, L. V., Smith, A. V., Grove, M. L., Bartz, T. M., . . . London, S. J. (n.d.). Meta-analysis of exome array data identifies six novel genetic loci for lung function. Wellcome Open Research, 3, 4. doi:10.12688/wellcomeopenres.12583.2

Manichaikul, A., Wang, X. -Q., Li, L., Erdmann, J., Lettre, G., Bis, J. C., . . . Rodriguez, A. (2018). Lp-PLA₂, scavenger receptor class B type I gene (SCARB1) rs10846744 variant, and cardiovascular disease. PLOS ONE, 13(10). doi:10.1371/journal.pone.0204352

Zekavat, S. M., Ruotsalainen, S., Handsaker, R. E., Alver, M., Bloom, J., Poterba, T., . . . Natarajan, P. (2018). Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries (vol 9, 2606, 2018). NATURE COMMUNICATIONS, 9. doi:10.1038/s41467-018-05975-y

Jackson, V. E., Latourelle, J. C., Wain, L. V., Smith, A. V., Grove, M. L., Bartz, T. M., . . . London, S. J. (2018). Meta-analysis of exome array data identifies six novel genetic loci for lung function.. Wellcome open research, 3, 4. doi:10.12688/wellcomeopenres.12583.3

Rich, S. S. (2018). Genetic Contribution to Risk for Diabetic Kidney Disease. CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 13(8), 1135-1137. doi:10.2215/CJN.07240618

Zekavat, S. M., Ruotsalainen, S., Handsaker, R. E., Alver, M., Bloom, J., Poterba, T., . . . Natarajan, P. (2018). Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries. NATURE COMMUNICATIONS, 9. doi:10.1038/s41467-018-04668-w

Riddle, M. C., Bakris, G., Boulton, A. J. M., Blonde, L., D'Alessio, D., Greene, E. L., . . . Reynolds, L. (2018). Big Topics for Diabetes Care in 2018: Clinical Guidelines, Costs of Diabetes, and Information Technology. DIABETES CARE, 41(7), 1327-1329. doi:10.2337/dci18-0035

Hu, Y., Raffield, L. M., Polfus, L. M., Moscati, A., Nadkarni, G., Preuss, M. H., . . . Reiner, A. P. (2018). A common TCN1 loss-of-function variant is associated with lower vitamin B₁₂ concentration in African Americans. BLOOD, 131(25), 2859-2863. doi:10.1182/blood-2018-03-841023

Macri, V., Brody, J. A., Arking, D. E., Hucker, W. J., Yin, X., Lin, H., . . . Ellinor, P. T. (2018). Common Coding Variants in SCN10A Are Associated With the Nav1.8 Late Current and Cardiac Conduction. CIRCULATION-GENOMIC AND PRECISION MEDICINE, 11(5). doi:10.1161/CIRCGEN.116.001663

Otto, M. C. D. O., Lemaitre, R. N., Qi, S., King, I. B., Wu, J. H. Y., Manichaikul, A., . . . Mozaffarian, D. (2018). Genome-wide association meta-analysis of circulating odd-numbered chain saturated fatty acids: Results from the CHARGE Consortium. PLOS ONE, 13(5). doi:10.1371/journal.pone.0196951

Robertson, C. C., & Rich, S. S. (2018). Genetics of type 1 diabetes. CURRENT OPINION IN GENETICS & DEVELOPMENT, 50, 7-16. doi:10.1016/j.gde.2018.01.006

Jiang, X., O'Reilly, P. F., Aschard, H., Hsu, Y. -H., Richards, J. B., Dupuis, J., . . . Kiel, D. P. (2018). Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels. NATURE COMMUNICATIONS, 9. doi:10.1038/s41467-017-02662-2

Huang, T., Ding, M., Bergholdt, H. K. M., Wang, T., Heianza, Y., Sun, D. -J., . . . Qi, L. (2018). Dairy Consumption and Body Mass Index Among Adults: Mendelian Randomization Analysis of 184802 Individuals from 25 Studies. CLINICAL CHEMISTRY, 64(1), 183-191. doi:10.1373/clinchem.2017.280701

McKeown, N. M., Dashti, H. S., Ma, J., Haslam, D. E., Kiefte-de Jong, J. C., Smith, C. E., . . . Herman, M. A. (2018). Sugar-sweetened beverage intake associations with fasting glucose and insulin concentrations are not modified by selected genetic variants in a ChREBP-FGF21 pathway: a meta-analysis. DIABETOLOGIA, 61(2), 317-330. doi:10.1007/s00125-017-4475-0

2017

Demenais, F., Margaritte-Jeannin, P., Barnes, K. C., Cookson, W. O. C., Altmueller, J., Ang, W., . . . Nicolae, D. L. (2018). Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks. NATURE GENETICS, 50(1), 42-+. doi:10.1038/s41588-017-0014-7

Smith, C. E., Follis, J. L., Dashti, H. S., Tanaka, T., Graff, M., Fretts, A. M., . . . Ordovas, J. M. (2018). Genome-Wide Interactions with Dairy Intake for Body Mass Index in Adults of European Descent. MOLECULAR NUTRITION & FOOD RESEARCH, 62(3). doi:10.1002/mnfr.201700347

Liu, D. J., Peloso, G. M., Yu, H., Butterworth, A. S., Wang, X., Mahajan, A., . . . Kathiresan, S. (2017). Exome-wide association study of plasma lipids in >300,000 individuals. NATURE GENETICS, 49(12), 1758-+. doi:10.1038/ng.3977

Brody, J. A., Morrison, A. C., Bis, J. C., O'Connell, J. R., Brown, M. R., Huffman, J. E., . . . Cupples, L. A. (2017). Analysis commons, a team approach to discovery in a big-data environment for genetic epidemiology. NATURE GENETICS, 49(11), 1560-1563. doi:10.1038/ng.3968

Norris, J. M., Lee, H. -S., Frederiksen, B., Erlund, I., Uusitalo, U., Yang, J., . . . Hagopian, W. (2018). Plasma 25-Hydroxyvitamin D Concentration and Risk of Islet Autoimmunity. DIABETES, 67(1), 146-154. doi:10.2337/db17-0802

Newman, J. R. B., Conesa, A., Mika, M., New, F. N., Onengut-Gumuscu, S., Atkinson, M. A., . . . Concannon, P. (2017). Disease-specific biases in alternative splicing and tissue-specific dysregulation revealed by multitissue profiling of lymphocyte gene expression in type 1 diabetes. GENOME RESEARCH, 27(11), 1807-1815. doi:10.1101/gr.217984.116

Hagopian, W., Lee, H. -S., Liu, E., Rewers, M., She, J. -X., Ziegler, A. -G., . . . TEDDY Study Group. (2017). Co-occurrence of Type 1 Diabetes and Celiac Disease Autoimmunity.. Pediatrics, 140(5), e20171305. doi:10.1542/peds.2017-1305

Liu, Y., Walavalkar, N. M., Dozmorov, M. G., Rich, S. S., Civelek, M., & Guertin, M. J. (2017). Identification of breast cancer associated variants that modulate transcription factor binding. PLOS GENETICS, 13(9). doi:10.1371/journal.pgen.1006761

Wheeler, E., Leong, A., Liu, C. -T., Hivert, M. -F., Strawbridge, R. J., Podmore, C., . . . Meigs, J. B. (2017). Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis. PLOS MEDICINE, 14(9). doi:10.1371/journal.pmed.1002383

Rich, S. S. (2017). Genetics and its potential to improve type 1 diabetes care. CURRENT OPINION IN ENDOCRINOLOGY DIABETES AND OBESITY, 24(4), 279-284. doi:10.1097/MED.0000000000000347

Manichaikul, A., Sun, L., Borczuk, A. C., Onengut-Gumuscu, S., Farber, E. A., Mathai, S. K., . . . Lederer, D. J. (2017). Plasma Soluble Receptor for Advanced Glycation End Products in Idiopathic Pulmonary Fibrosis. ANNALS OF THE AMERICAN THORACIC SOCIETY, 14(5), 628-635. doi:10.1513/AnnalsATS.201606-485OC

Marin, I. A., Goertz, J. E., Ren, T., Rich, S. S., Onengut-Gumuscu, S., Farber, E., . . . Gaultier, A. (2017). Microbiota alteration is associated with the development of stress-induced despair behavior. SCIENTIFIC REPORTS, 7. doi:10.1038/srep43859

Hobbs, B. D., de Jong, K., Lamontagne, M., Bosse, Y., Shrine, N., Artigas, M. S., . . . Cho, M. H. (2017). Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis. NATURE GENETICS, 49(3), 426-432. doi:10.1038/ng.3752

Rusu, V., Hoch, E., Mercader, J. M., Tenen, D. E., Gymrek, M., Hartigan, C. R., . . . Lander, E. S. (2017). Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms. CELL, 170(1), 199-+. doi:10.1016/j.cell.2017.06.011

Haddad, S. A., Palmer, J. R., Lunetta, K. L., Ng, M. C. Y., & Ruiz-Narvaez, E. A. (2017). A novel TCF7L2 type 2 diabetes SNP identified from fine mapping in African American women. PLOS ONE, 12(3). doi:10.1371/journal.pone.0172577

Lundgren, M., Steed, L. J., Tamura, R., Jonsdottir, B., Gesualdo, P., Crouch, C., . . . Larsson, H. E. (2017). Analgesic antipyretic use among young children in the TEDDY study: no association with islet autoimmunity. BMC PEDIATRICS, 17. doi:10.1186/s12887-017-0884-y

Cefalu, W. T., Boulton, A. J. M., Tamborlane, W. V., Moses, R. G., LeRoith, D., Greene, E. L., . . . Riddle, M. C. (2017). Diabetes Care: "Taking It to the Limit One More Time". DIABETES CARE, 40(1), 3-6. doi:10.2337/dc16-2326

Rich, S. S. (2017). The Promise and Practice of Genetics on Diabetes Care: The Fog Rises to Reveal a Field of Genetic Complexity in HNF1B. DIABETES CARE, 40(11), 1433-1435. doi:10.2337/dci17-0014

Raffield, L. M., Zakai, N. A., Duan, Q., Laurie, C., Smith, J. D., Irvin, M. R., . . . Reiner, A. P. (2017). D-Dimer in African Americans Whole Genome Sequence Analysis and Relationship to Cardiovascular Disease Risk in the Jackson Heart Study. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, 37(11), 2220-+. doi:10.1161/ATVBAHA.117.310073

Liu, Y., Reynolds, L. M., Ding, J., Hou, L., Lohman, K., Young, T., . . . Stein, J. H. (2017). Blood monocyte transcriptome and epigenome analyses reveal loci associated with human atherosclerosis. NATURE COMMUNICATIONS, 8. doi:10.1038/s41467-017-00517-4

Ding, M., Huang, T., Bergholdt, H. K. M., Nordestgaard, B. G., Ellervik, C., Qi, L., . . . Chasman, D. I. (2017). Dairy consumption, systolic blood pressure, and risk of hypertension: Mendelian randomization study. BMJ-BRITISH MEDICAL JOURNAL, 356. doi:10.1136/bmj.j1000

Afshar, M., Luk, K., Do, R., Dufresnse, L., Owens, D. S., Harris, T. B., . . . Thanassoulis, G. (2017). Association of Triglyceride-Related Genetic Variants With Mitral Annular Calcification. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 69(24), 2941-2948. doi:10.1016/j.jacc.2017.04.051

Wang, Z., Manichukal, A., Goff, D. C. J., Mora, S., Ordovas, J. M., Pajewski, N. M., . . . Frazier-Wood, A. C. (2017). Genetic associations with lipoprotein subfraction measures differ by ethnicity in the multi-ethnic study of atherosclerosis (MESA). HUMAN GENETICS, 136(6), 715-726. doi:10.1007/s00439-017-1782-y

Spracklen, C. N., Chen, P., Kim, Y. J., Wang, X., Cai, H., Li, S., . . . Sim, X. (2017). Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. HUMAN MOLECULAR GENETICS, 26(9), 1770-1784. doi:10.1093/hmg/ddx062

Steck, A. K., Xu, P., Geyer, S., Redondo, M. J., Antinozzi, P., Wentworth, J. M., . . . Pugliese, A. (2017). Can Non-HLA Single Nucleotide Polymorphisms Help Stratify Risk in TrialNet Relatives at Risk for Type 1 Diabetes?. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 102(8), 2873-2880. doi:10.1210/jc.2016-4003

Manichaikul, A., Wang, X. -Q., Sun, L., Dupuis, J., Borczuk, A. C., Nguyen, J. N., . . . Lederer, D. J. (2017). Genome-wide association study of subclinical interstitial lung disease in MESA. RESPIRATORY RESEARCH, 18. doi:10.1186/s12931-017-0581-2

Williams, S. R., Hsu, F. -C., Keene, K. L., Chen, W. -M., Dzhivhuho, G., Rowles, J. L. I. I. I., . . . Sale, M. M. (2017). Genetic Drivers of von Willebrand Factor Levels in an Ischemic Stroke Population and Association With Risk for Recurrent Stroke. STROKE, 48(6), 1444-+. doi:10.1161/STROKEAHA.116.015677

Hu, Y., Tanaka, T., Zhu, J., Guan, W., Wu, J. H. Y., Psaty, B. M., . . . Lin, X. (2017). Discovery and fine-mapping of loci associated with MUFAs through trans-ethnic meta-analysis in Chinese and European populations. JOURNAL OF LIPID RESEARCH, 58(5), 974-981. doi:10.1194/jlr.P071860

Traylor, M., Malik, R., Nalls, M. A., Cotlarciuc, I., Radmanesh, F., Thorleifsson, G., . . . Markus, H. S. (2017). Genetic Variation at 16q24.2 Is Associated With Small Vessel Stroke. ANNALS OF NEUROLOGY, 81(3), 383-394. doi:10.1002/ana.24840

2016

Avery, C. L., Wassel, C. L., Richard, M. A., Highland, H. M., Bien, S., Zubair, N., . . . North, K. E. (2017). Fine mapping of QT interval regions in global populations refines previously identified QT interval loci and identifies signals unique to African and Hispanic descent populations. HEART RHYTHM, 14(4), 572-580. doi:10.1016/j.hrthm.2016.12.021

Keaton, J. M., Hellwege, J. N., Ng, M. C. Y., Palmer, N. D., Pankow, J. S., Fornage, M., . . . Bowden, D. W. (2017). GENOME-WIDE INTERACTION WITH SELECTED TYPE 2 DIABETES LOCI REVEALS NOVEL LOCI FOR TYPE 2 DIABETES IN AFRICAN AMERICANS. PACIFIC SYMPOSIUM ON BIOCOMPUTING 2017, 242-253.

Pisarska, M. D., Akhlaghpour, M., Lee, B., Barlow, G. M., Xu, N., Wang, E. T., . . . Williams, J. I. I. I. (2016). Optimization of techniques for multiple platform testing in small, precious samples such as human chorionic villus sampling. PRENATAL DIAGNOSIS, 36(11), 1061-1070. doi:10.1002/pd.4936

Golden, D., Kolmakova, A., Sura, S., Vella, A. T., Manichaikul, A., Wang, X. -Q., . . . Rodriguez, A. (2016). Lymphocyte activation gene 3 and coronary artery disease. JCI INSIGHT, 1(17). doi:10.1172/jci.insight.88628

Sandholm, N., Van Zuydam, N., Ahlqvist, E., Juliusdottir, T., Deshmukh, H. A., Rayner, N. W., . . . Groop, P. -H. (2017). The Genetic Landscape of Renal Complications in Type 1 Diabetes. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 28(2), 557-574. doi:10.1681/ASN.2016020231

Postmus, I., Warren, H. R., Trompet, S., Arsenault, B. J., Avery, C. L., Bis, J. C., . . . Krauss, R. M. (2016). Meta-analysis of genome-wide association studies of HDL cholesterol response to statins. JOURNAL OF MEDICAL GENETICS, 53(12), 835-+. doi:10.1136/jmedgenet-2016-103966

Polfus, L. M., Khajuria, R. K., Schick, U. M., Pankratz, N., Pazoki, R., Brody, J. A., . . . Sankaran, V. G. (2016). Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis. AMERICAN JOURNAL OF HUMAN GENETICS, 99(2), 481-488. doi:10.1016/j.ajhg.2016.06.016

Rich, S. S. (2016). Diabetes: Still a geneticist's nightmare.. Nature, 536(7614), 37-38. doi:10.1038/nature18906

Pankratz, N., Schick, U. M., Zhou, Y., Zhou, W., Ahluwalia, T. S., Allende, M. L., . . . Ganesh, S. K. (2016). Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits. NATURE GENETICS, 48(8), 867-+. doi:10.1038/ng.3607

Rich, S. S., Wang, Z. Y., Sturcke, A., Ziyabari, L., Feolo, M., O'Donnell, C. J., . . . Psaty, B. M. (2016). Rapid evaluation of phenotypes, SNPs and results through the dbGaP CHARGE Summary Results site. NATURE GENETICS, 48(7), 702-703. doi:10.1038/ng.3582

Torn, C., Liu, X., Hagopian, W., Lernmark, A., Simell, O., Rewers, M., . . . Krischer, J. (2016). Complement gene variants in relation to autoantibodies to beta cell specific antigens and type 1 diabetes in the TEDDY Study. SCIENTIFIC REPORTS, 6. doi:10.1038/srep27887

Hinney, A., Kesselmeier, M., Jall, S., Volckmar, A. -L., Foecker, M., Antel, J., . . . Hebebrand, J. (2017). Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index. MOLECULAR PSYCHIATRY, 22(2), 192-201. doi:10.1038/mp.2016.71

Okbay, A., Baselmans, B. M. L., De Neve, J. -E., Turley, P., Nivard, M. G., Fontana, M. A., . . . Cesarini, D. (2016). Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses. NATURE GENETICS, 48(6), 624-+. doi:10.1038/ng.3552

Zhu, J., Manichaikul, A., Hu, Y., Chen, Y. -D. I., Liang, S., Steffen, L. M., . . . Lin, X. (2017). Meta-analysis of genome-wide association studies identifies three novel loci for saturated fatty acids in East Asians. EUROPEAN JOURNAL OF NUTRITION, 56(4), 1477-1484. doi:10.1007/s00394-016-1193-1

Gutierrez-Arcelus, M., Rich, S. S., & Raychaudhuri, S. (2016). Autoimmune diseases - connecting risk alleles with molecular traits of the immune system. NATURE REVIEWS GENETICS, 17(3), 160-174. doi:10.1038/nrg.2015.33

Uusitalo, U., Liu, X., Yang, J., Aronsson, C. A., Hummel, S., Butterworth, M., . . . Virtanen, S. M. (2016). Association of Early Exposure of Probiotics and Islet Autoimmunity in the TEDDY Study. JAMA PEDIATRICS, 170(1), 20-28. doi:10.1001/jamapediatrics.2015.2757

Polfus, L. M., Khajuria, R. K., Schick, U. M., Pankratz, N., Pazoki, R., Brody, J. A., . . . Sankaran, V. G. (2016). Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis (vol 99, pg 481, 2016). AMERICAN JOURNAL OF HUMAN GENETICS, 99(3), 785. doi:10.1016/j.ajhg.2016.08.002

Zubair, N., Graff, M., Ambite, J. L., Bush, W. S., Kichaev, G., Lu, Y., . . . Carty, C. L. (2016). Fine-mapping of lipid regions in global populations discovers ethnic-specific signals and refines previously identified lipid loci. HUMAN MOLECULAR GENETICS, 25(24), 5500-5512. doi:10.1093/hmg/ddw358

Rich, S. S., & Cefalu, W. T. (2016). The Impact of Precision Medicine in Diabetes: A Multidimensional Perspective. DIABETES CARE, 39(11), 1854-1857. doi:10.2337/dc16-1833

Auer, P. L., Reiner, A. P., Wang, G., Kang, H. M., Abecasis, G. R., Altshuler, D., . . . Leal, S. M. (2016). Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project. AMERICAN JOURNAL OF HUMAN GENETICS, 99(4), 791-801. doi:10.1016/j.ajhg.2016.08.012

Rich, S. S. (2016). DIABETES Still a geneticist's nightmare. NATURE, 536(7614), 38-39. doi:10.1038/nature18906

Franceschini, N., Carty, C. L., Lu, Y., Tao, R., Sung, Y. J., Manichaikul, A., . . . Kooperberg, C. (2016). Variant Discovery and Fine Mapping of Genetic Loci Associated with Blood Pressure Traits in Hispanics and African Americans. PLOS ONE, 11(10). doi:10.1371/journal.pone.0164132

Cefalu, W. T., Boulton, A. J. M., Tamborlane, W. V., Moses, R. G., LeRoith, D., Greene, E. L., . . . Reynolds, L. (2016). Diabetes Care: "Lagniappe" and "Seeing Is Believing"!. DIABETES CARE, 39(7), 1069-1071. doi:10.2337/dc16-0891

Keaton, J. M., Hellwege, J. N., Ng, M. C. Y., Palmer, N. D., Pankow, J. S., Fornage, M., . . . Bowden, D. W. (2016). Genome-Wide Interaction with Insulin Secretion Loci Reveals Novel Loci for Type 2 Diabetes in African Americans. PLOS ONE, 11(7). doi:10.1371/journal.pone.0159977

Liu, C. -T., Raghavan, S., Maruthur, N., Kabagambe, E. K., Hong, J., Ng, M. C. Y., . . . Meigs, J. B. (2016). Trans-ethnic Meta-analysis and Functional Annotation Illuminates the Genetic Architecture of Fasting Glucose and Insulin. AMERICAN JOURNAL OF HUMAN GENETICS, 99(1), 56-75. doi:10.1016/j.ajhg.2016.05.006

Eicher, J. D., Chami, N., Kacprowski, T., Nomura, A., Chen, M. -H., Yanek, L. R., . . . Johnson, A. D. (2016). Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals. AMERICAN JOURNAL OF HUMAN GENETICS, 99(1), 40-55. doi:10.1016/j.ajhg.2016.05.005

Tajuddin, S. M., Schick, U. M., Eicher, J. D., Chami, N., Giri, A., Brody, J. A., . . . Auer, P. L. (2016). Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases. AMERICAN JOURNAL OF HUMAN GENETICS, 99(1), 22-39. doi:10.1016/j.ajhg.2016.05.003

Manichaikul, A., Rich, S. S., Allison, M. A., Guagliardo, N. A., Bayliss, D. A., Carey, R. M., & Barrett, P. Q. (2016). KCNK3 Variants Are Associated With Hyperaldosteronism and Hypertension. HYPERTENSION, 68(2), 356-+. doi:10.1161/HYPERTENSIONAHA.116.07564

Rosenthal, E. A., Makaryan, V., Burt, A. A., Crosslin, D. R., Kim, D. S., Smith, J. D., . . . Jarvik, G. P. (2016). Association Between Absolute Neutrophil Count and Variation at TCIRG1: The NHLBI Exome Sequencing Project. GENETIC EPIDEMIOLOGY, 40(6), 470-474. doi:10.1002/gepi.21976

Han, B., Pouget, J. G., Slowikowski, K., Stahl, E., Lee, C. H., Diogo, D., . . . Raychaudhuri, S. (2016). A method to decipher pleiotropy by detecting underlying heterogeneity driven by hidden subgroups applied to autoimmune and neuropsychiatric diseases. NATURE GENETICS, 48(7), 803-+. doi:10.1038/ng.3572

Tsai, M. Y., Cao, J., Steffen, B. T., Weir, N. L., Rich, S. S., Liang, S., & Guan, W. (2016). 5-Lipoxygenase Gene Variants Are Not Associated With Atherosclerosis or Incident Coronary Heart Disease in the Multi-Ethnic Study of Atherosclerosis Cohort. JOURNAL OF THE AMERICAN HEART ASSOCIATION, 5(3). doi:10.1161/JAHA.115.002814

van Leeuwen, E. M., Sabo, A., Bis, J. C., Huffman, J. E., Manichaikul, A., Smith, A. V., . . . van Duijn, C. M. (2016). Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels. JOURNAL OF MEDICAL GENETICS, 53(7), 441-449. doi:10.1136/jmedgenet-2015-103439

Sharma, A., Liu, X., Hadley, D., Hagopian, W., Liu, E., Chen, W. -M., . . . She, J. -X. (2016). Identification of Non-HLA Genes Associated with Celiac Disease and Country-Specific Differences in a Large, International Pediatric Cohort. PLOS ONE, 11(3). doi:10.1371/journal.pone.0152476

Vargas, J. D., Manichaikul, A., Wang, X. -Q., Rich, S. S., Rotter, J. I., Post, W. S., . . . Bluemke, D. A. (2016). Detailed analysis of association between common single nucleotide polymorphisms and subclinical atherosclerosis: The Multi-ethnic Study of Atherosclerosis. DATA IN BRIEF, 7, 229-242. doi:10.1016/j.dib.2016.01.048

Diep, C. S., Lemaitre, R. N., Chen, T. -A., Baranowski, T., Lutsey, P. L., Manichaikul, A. W., . . . Frazier-Wood, A. C. (2016). Acculturation and Plasma Fatty Acid Concentrations in Hispanic and Chinese-American Adults: The Multi-Ethnic Study of Atherosclerosis. PLOS ONE, 11(2). doi:10.1371/journal.pone.0149267

Schick, U. M., Jain, D., Hodonsky, C. J., Morrison, J. V., Davis, J. P., Brown, L., . . . Reiner, A. P. (2016). Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans. AMERICAN JOURNAL OF HUMAN GENETICS, 98(2), 229-242. doi:10.1016/j.ajhg.2015.12.003

Ma, Y., Follis, J. L., Smith, C. E., Tanaka, T., Manichaikul, A. W., Chu, A. Y., . . . Lemaitre, R. N. (2016). Interaction of methylation-related genetic variants with circulating fatty acids on plasma lipids: a meta-analysis of 7 studies and methylation analysis of 3 studies in the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium. AMERICAN JOURNAL OF CLINICAL NUTRITION, 103(2), 567-578. doi:10.3945/ajcn.115.112987

Below, J. E., Parra, E. J., Gamazon, E. R., Torres, J., Krithika, S., Candille, S., . . . Valladares-Salgado, A. (2016). Meta-analysis of lipid-traits in Hispanics identifies novel loci, population-specific effects, and tissue-specific enrichment of eQTLs. SCIENTIFIC REPORTS, 6. doi:10.1038/srep19429

Hu, Y., Li, H., Lu, L., Manichaikul, A., Zhu, J., Chen, Y. -D. I., . . . Lin, X. (2016). Genome-wide meta-analyses identify novel loci associated with n-3 and n-6 polyunsaturated fatty acid levels in Chinese and European-ancestry populations. HUMAN MOLECULAR GENETICS, 25(6), 1215-1224. doi:10.1093/hmg/ddw002

Manichaikul, A., Wang, X. -Q., Zhao, W., Wojczynski, M. K., Siebenthall, K., Stamatoyannopoulos, J. A., . . . Bornfeldt, K. E. (2016). Genetic association of long-chain acyl-CoA synthetase 1 variants with fasting glucose, diabetes, and subclinical atherosclerosis. JOURNAL OF LIPID RESEARCH, 57(3), 433-442. doi:10.1194/jlr.M064592

Ge, Y., Onengut-Gumuscu, S., Quinlan, A. R., Mackey, A. J., Wright, J. A., Buckner, J. H., . . . Concannon, P. (2016). Targeted Deep Sequencing in Multiple-Affected Sibships of European Ancestry Identifies Rare Deleterious Variants in PTPN22 That Confer Risk for Type 1 Diabetes. DIABETES, 65(3), 794-802. doi:10.2337/db15-0322

Gao, L., Emond, M. J., Louie, T., Cheadle, C., Berger, A. E., Rafaels, N., . . . Barnes, K. C. (2016). Identification of Rare Variants in ATP8B4 as a Risk Factor for Systemic Sclerosis by Whole-Exome Sequencing. ARTHRITIS & RHEUMATOLOGY, 68(1), 191-200. doi:10.1002/art.39449

Gutierrez, O. M., Judd, S. E., Irvin, M. R., Zhi, D., Limdi, N., Palmer, N. D., . . . Freedman, B. I. (2016). APOL1 nephropathy risk variants are associated with altered high-density lipoprotein profiles in African Americans. NEPHROLOGY DIALYSIS TRANSPLANTATION, 31(4), 602-608. doi:10.1093/ndt/gfv229

2015

Williams, S. R., Hsu, F. -C., Keene, K. L., Chen, W. -M., Nelson, S., Southerland, A. M., . . . Worrall, B. B. (2016). Shared genetic susceptibility of vascular-related biomarkers with ischemic and recurrent stroke. NEUROLOGY, 86(4), 351-359. doi:10.1212/WNL.0000000000002319

Vargas, J. D., Manichaikul, A., Wang, X. -Q., Rich, S. S., Rotter, J. I., Post, W. S., . . . Bluemke, D. A. (2016). Common genetic variants and subclinical atherosclerosis: The Multi-Ethnic Study of Atherosclerosis (MESA). ATHEROSCLEROSIS, 245, 230-236. doi:10.1016/j.atherosclerosis.2015.11.034

Arvey, A., van der Veeken, J., Plitas, G., Rich, S. S., Concannon, P., & Rudensky, A. Y. (2015). Genetic and epigenetic variation in the lineage specification of regulatory T cells. ELIFE, 4. doi:10.7554/eLife.07571

Reynolds, L. M., Wan, M., Ding, J., Taylor, J. R., Lohman, K., Su, D., . . . Liu, Y. (2015). DNA Methylation of the Aryl Hydrocarbon Receptor Repressor Associations With Cigarette Smoking and Subclinical Atherosclerosis. CIRCULATION-CARDIOVASCULAR GENETICS, 8(5), 707-716. doi:10.1161/CIRCGENETICS.115.001097

Lenz, T. L., Deutsch, A. J., Han, B., Hu, X., Okada, Y., Eyre, S., . . . Raychaudhuri, S. (2015). Widespread non-additive and interaction effects within HLA loci modulate the risk of autoimmune diseases. NATURE GENETICS, 47(9), 1085-+. doi:10.1038/ng.3379

Hu, X., Deutsch, A. J., Lenz, T. L., Onengut-Gumuscu, S., Han, B., Chen, W. -M., . . . Raychaudhuri, S. (2015). Additive and interaction effects at three amino acid positions in HLA-DQ and HLA-DR molecules drive type 1 diabetes risk. NATURE GENETICS, 47(8), 898-+. doi:10.1038/ng.3353

Carty, C. L., Keene, K. L., Cheng, Y. -C., Meschia, J. F., Chen, W. -M., Nalls, M., . . . Fornage, M. (2015). Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans. STROKE, 46(8), 2063-2068. doi:10.1161/STROKEAHA.115.009044

Cefalu, W. T., Boulton, A. J. M., Tamborlane, W. V., Moses, R. G., LeRoith, D., Greene, E. L., . . . Reynolds, L. (2015). Status of Diabetes Care: New Challenges, New Concepts, New MeasuresFocusing on the Future!. DIABETES CARE, 38(7), 1177-1180. doi:10.2337/dc15-0875

Hadley, D., Hagopian, W., Liu, E., She, J. -X., Simell, O., Akolkar, B., . . . Agardh, D. (2015). HLA-DPB1^â04:01 Protects Genetically Susceptible Children from Celiac Disease Autoimmunity in the TEDDY Study. AMERICAN JOURNAL OF GASTROENTEROLOGY, 110(6), 915-920. doi:10.1038/ajg.2015.150

Nettleton, J. A., Follis, J. L., Ngwa, J. S., Smith, C. E., Ahmad, S., Tanaka, T., . . . Franks, P. W. (2015). Gene x dietary pattern interactions in obesity: analysis of up to 68 317 adults of European ancestry. HUMAN MOLECULAR GENETICS, 24(16), 4728-4738. doi:10.1093/hmg/ddv186

Tang, W., Cushman, M., Green, D., Rich, S. S., Lange, L. A., Yang, Q., . . . Folsom, A. R. (2015). Gene-centric approach identifies new and known loci for FVIII activity and VWF antigen levels in European Americans and African Americans. AMERICAN JOURNAL OF HEMATOLOGY, 90(6), 534-540. doi:10.1002/ajh.24005

Smith, C. E., Follis, J. L., Nettleton, J. A., Foy, M., Wu, J. H. Y., Ma, Y., . . . Lemaitre, R. N. (2015). Dietary fatty acids modulate associations between genetic variants and circulating fatty acids in plasma and erythrocyte membranes: Meta-analysis of nine studies in the CHARGE consortium. MOLECULAR NUTRITION & FOOD RESEARCH, 59(7), 1373-1383. doi:10.1002/mnfr.201400734

Onengut-Gumuscu, S., Chen, W. -M., Burren, O., Cooper, N. J., Quinlan, A. R., Mychaleckyj, J. C., . . . Rich, S. S. (2015). Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers. NATURE GENETICS, 47(4), 381-U199. doi:10.1038/ng.3245

Chen, W., Brehm, J. M., Manichaikul, A., Cho, M. H., Boutaoui, N., Yan, Q., . . . Celedon, J. C. (2015). A Genome-Wide Association Study of Chronic Obstructive Pulmonary Disease in Hispanics. ANNALS OF THE AMERICAN THORACIC SOCIETY, 12(3), 340-348. doi:10.1513/AnnalsATS.201408-380OC

Amendola, L. M., Dorschner, M. O., Robertson, P. D., Salama, J. S., Hart, R., Shirts, B. H., . . . Jarvik, G. P. (2015). Actionable exomic incidental findings in 6503 participants: challenges of variant classification. GENOME RESEARCH, 25(3), 305-315. doi:10.1101/gr.183483.114

van Leeuwen, E. M., Huffman, J. E., Bis, J. C., Isaacs, A., Mulder, M., Sabo, A., . . . van Duijn, C. (2015). Fine mapping the CETP region reveals a common intronic insertion associated to HDL-C. NPJ AGING AND MECHANISMS OF DISEASE, 1. doi:10.1038/npjamd.2015.11

Fox, C. S., Hall, J. L., Arnett, D. K., Ashley, E. A., Delles, C., Engler, M. B., . . . Terzic, A. (2015). Future Translational Applications From the Contemporary Genomics Era A Scientific Statement From the American Heart Association. CIRCULATION, 131(19), 1715-1736. doi:10.1161/CIR.0000000000000211

Keating, B. J., van Setten, J., Jacobson, P. A., Holmes, M. V., Verma, S. S., Chandrupatla, H. R., . . . Asselbergs, F. W. (2015). Design and Implementation of the International Genetics and Translational Research in Transplantation Network. TRANSPLANTATION, 99(11), 2401-2412. doi:10.1097/TP.0000000000000913

Rich, S. S., & Concannon, P. (2015). Role of Type 1 Diabetes-Associated SNPs on Autoantibody Positivity in the Type 1 Diabetes Genetics Consortium: Overview. DIABETES CARE, 38, S1-S3. doi:10.2337/dcs15-2001

Rich, S. S., & Concannon, P. (2015). Summary of the Type 1 Diabetes Genetics Consortium Autoantibody Workshop. DIABETES CARE, 38, S45-S48. doi:10.2337/dcs15-2008

Gutierrez-Achury, J., Romanos, J., Bakker, S. F., Kumar, V., de Haas, E. C., Trynka, G., . . . Wijmenga, C. (2015). Contrasting the Genetic Background of Type 1 Diabetes and Celiac Disease Autoimmunity. DIABETES CARE, 38, S37-S44. doi:10.2337/dcs15-2007

Huang, C., Haritunians, T., Okou, D. T., Cutler, D. J., Zwick, M. E., Taylor, K. D., . . . Kugathasan, S. (2015). Characterization of Genetic Loci That Affect Susceptibility to Inflammatory Bowel Diseases in African Americans. GASTROENTEROLOGY, 149(6), 1575-1586. doi:10.1053/j.gastro.2015.07.065

Joshi, P. K., Esko, T., Mattsson, H., Eklund, N., Gandin, I., Nutile, T., . . . Wilson, J. F. (2015). Directional dominance on stature and cognition in diverse human populations. NATURE, 523(7561), 459-U176. doi:10.1038/nature14618

Wallace, C., Cutler, A. J., Pontikos, N., Pekalski, M. L., Burren, O. S., Cooper, J. D., . . . Wicker, L. S. (2015). Dissection of a Complex Disease Susceptibility Region Using a Bayesian Stochastic Search Approach to Fine Mapping. PLOS GENETICS, 11(6). doi:10.1371/journal.pgen.1005272

Caramori, M. L., Kim, Y., Natarajan, R., Moore, J. H., Rich, S. S., Mychaleckyj, J. C., . . . Mauer, M. (2015). Differential Response to High Glucose in Skin Fibroblasts of Monozygotic Twins Discordant for Type 1 Diabetes. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 100(6), E883-E889. doi:10.1210/jc.2014-4467

Caramori, M. L., Kim, Y., Goldfine, A. B., Moore, J. H., Rich, S. S., Mychaleckyj, J. C., . . . Mauer, M. (2015). Differential Gene Expression in Diabetic Nephropathy in Individuals With Type 1 Diabetes. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 100(6), E876-E882. doi:10.1210/jc.2014-4465

Sharma, P. R., Mackey, A. J., Dejene, E. A., Ramadan, J. W., Langefeld, C. D., Palmer, N. D., . . . Nunemaker, C. S. (2015). An Islet-Targeted Genome-Wide Association Scan Identifies Novel Genes Implicated in Cytokine-Mediated Islet Stress in Type 2 Diabetes. ENDOCRINOLOGY, 156(9), 3147-3156. doi:10.1210/en.2015-1203

Manichaikul, A., Wang, X. -Q., Musani, S. K., Herrington, D. M., Post, W. S., Wilson, J. G., . . . Rodriguez, A. (2015). Association of the Lipoprotein Receptor SCARB1 Common Missense Variant rs4238001 with Incident Coronary Heart Disease. PLOS ONE, 10(5). doi:10.1371/journal.pone.0125497

Auer, P. L., Nalls, M., Meschia, J. F., Worrall, B. B., Longstreth, W. T. J., Seshadri, S., . . . Rich, S. S. (2015). Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke The NHLBI Exome Sequence Project. JAMA NEUROLOGY, 72(7), 781-788. doi:10.1001/jamaneurol.2015.0582

Brorsson, C. A., Onengut, S., Chen, W. -M., Wenzlau, J., Yu, L., Baker, P., . . . Pociot, F. (2015). Novel Association Between Immune-Mediated Susceptibility Loci and Persistent Autoantibody Positivity in Type 1 Diabetes. DIABETES, 64(8), 3017-3027. doi:10.2337/db14-1730

Dauriz, M., Porneala, B. C., Guo, X., Bielak, L. F., Peyser, P. A., Durant, N. H., . . . Meigs, J. B. (2015). Association of a 62 Variants Type 2 Diabetes Genetic Risk Score With Markers of Subclinical Atherosclerosis A Transethnic, Multicenter Study. CIRCULATION-CARDIOVASCULAR GENETICS, 8(3), 507-515. doi:10.1161/CIRCGENETICS.114.000740

Isobe, N., Madireddy, L., Khankhanian, P., Matsushita, T., Caillier, S. J., More, J. M., . . . Oksenberg, J. R. (2015). An ImmunoChip study of multiple sclerosis risk in African Americans. BRAIN, 138, 1518-1530. doi:10.1093/brain/awv078

van Leeuwen, E. M., Karssen, L. C., Deelen, J., Isaacs, A., Medina-Gomez, C., Mbarek, H., . . . van Duijn, C. M. (2015). Genome of the Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels. NATURE COMMUNICATIONS, 6. doi:10.1038/ncomms7065

Lange, L. A., Willer, C. J., & Rich, S. S. (2015). Recent developments in genome and exome-wide analyses of plasma lipids. CURRENT OPINION IN LIPIDOLOGY, 26(2), 96-102. doi:10.1097/MOL.0000000000000159

Stitziel, N. O., Peloso, G. M., Abifadel, M., Cefalu, A. B., Fouchier, S., Motazacker, M. M., . . . Kathiresan, S. (2015). Exome Sequencing in Suspected Monogenic Dyslipidemias. CIRCULATION-CARDIOVASCULAR GENETICS, 8(2), 343-+. doi:10.1161/CIRCGENETICS.114.000776

Mozaffarian, D., Kabagambe, E. K., Johnson, C., Lemaitre, R. N., Manichaikul, A., Sun, Q., . . . Arnett, D. K. (2015). Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. AMERICAN JOURNAL OF CLINICAL NUTRITION, 101(2), 398-406. doi:10.3945/ajcn.114.094557

Wessel, J., Chu, A. Y., Willems, S. M., Wang, S., Yaghootkar, H., Brody, J. A., . . . Riboli, E. (2015). Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility. NATURE COMMUNICATIONS, 6. doi:10.1038/ncomms6897

Dashti, H. S., Follis, J. L., Smith, C. E., Tanaka, T., Cade, B. E., Gottlieb, D. J., . . . Ordovas, J. M. (2015). Habitual sleep duration is associated with BMI and macronutrient intake and may be modified by CLOCK genetic variants. AMERICAN JOURNAL OF CLINICAL NUTRITION, 101(1), 135-143. doi:10.3945/ajcn.114.095026

Palmer, N. D., Goodarzi, M. O., Langefeld, C. D., Wang, N., Guo, X., Taylor, K. D., . . . Wagenknecht, L. E. (2015). Genetic Variants Associated With Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium. DIABETES, 64(5), 1853-1866. doi:10.2337/db14-0732

Cooper, N. J., Shtir, C. J., Smyth, D. J., Guo, H., Swafford, A. D., Zanda, M., . . . Todd, J. A. (2015). Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes. HUMAN MOLECULAR GENETICS, 24(6), 1774-1790. doi:10.1093/hmg/ddu581

Adar, S. D., Kaufman, J. D., Diez-Roux, A. V., Hoffman, E. A., D'Souza, J., Stukovsky, K. H., . . . Barr, R. G. (2015). Air Pollution and Percent Emphysema Identified by Computed Tomography in the Multi-Ethnic Study of Atherosclerosis. ENVIRONMENTAL HEALTH PERSPECTIVES, 123(2), 144-151. doi:10.1289/ehp.1307951

2014

Do, R., Stitziel, N. O., Won, H. -H., Jorgensen, A. B., Duga, S., Merlini, P. A., . . . Kathiresan, S. (2015). Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. NATURE, 518(7537), 102-+. doi:10.1038/nature13917

Debette, S., Kamatani, Y., Metso, T. M., Kloss, M., Chauhan, G., Engelter, S. T., . . . Jungehuelsing, J. (2015). Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection. NATURE GENETICS, 47(1), 78-+. doi:10.1038/ng.3154

Torn, C., Hadley, D., Lee, H. -S., Hagopian, W., Lernmark, A., Simell, O., . . . Krischer, J. (2015). Role of Type 1 Diabetes-Associated SNPs on Risk of Autoantibody Positivity in the TEDDY Study. DIABETES, 64(5), 1818-1829. doi:10.2337/db14-1497

Lemaitre, R. N., King, I. B., Kabagambe, E. K., Wu, J. H. Y., McKnight, B., Manichaikul, A., . . . Friedlander, Y. (2015). Genetic loci associated with circulating levels of very long-chain saturated fatty acids. JOURNAL OF LIPID RESEARCH, 56(1), 176-184. doi:10.1194/jlr.M052456

Smith, J. G., Luk, K., Schulz, C. -A., Engert, J. C., Do, R., Hindy, G., . . . Thanassoulis, G. (2014). Association of Low-Density Lipoprotein Cholesterol-Related Genetic Variants With Aortic Valve Calcium and Incident Aortic Stenosis. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 312(17), 1764-1771. doi:10.1001/jama.2014.13959

Schick, U. M., Auer, P. L., Bis, J. C., Lin, H., Wei, P., Pankrate, N., . . . Reiner, A. P. (2015). Association of exome sequences with plasma C-reactive protein levels in >9000 participants. HUMAN MOLECULAR GENETICS, 24(2), 559-571. doi:10.1093/hmg/ddu450

Lee, H. -S., Burkhardt, B. R., McLeod, W., Smith, S., Eberhard, C., Lynch, K., . . . Krischer, J. P. (2014). Biomarker discovery study design for type 1 diabetes in The Environmental Determinants of Diabetes in the Young (TEDDY) study. DIABETES-METABOLISM RESEARCH AND REVIEWS, 30(5), 424-434. doi:10.1002/dmrr.2510

Loth, D. W., Artigas, M. S., Gharib, S. A., Wain, L. V., Franceschini, N., Koch, B., . . . London, S. J. (2014). Genome-wide association analysis identifies six new loci associated with forced vital capacity. NATURE GENETICS, 46(7), 669-677. doi:10.1038/ng.3011

Guan, W., Steffen, B. T., Lemaitre, R. N., Wu, J. H., Tanaka, T., Manichaikul, A., . . . Steffen, L. M. (2014). Genome-Wide Association Study of Plasma N6 Polyunsaturated Fatty Acids within the CHARGE Consortium.. Circulation. Cardiovascular genetics, 7(3), 321-331.

Hu, X., Kim, H., Raj, T., Brennan, P. J., Trynka, G., Teslovich, N., . . . Raychaudhuri, S. (2014). Regulation of Gene Expression in Autoimmune Disease Loci and the Genetic Basis of Proliferation in CD4⁺ Effector Memory T Cells. PLOS GENETICS, 10(6). doi:10.1371/journal.pgen.1004404

Weng, L. -C., Tang, W., Rich, S. S., Smith, N. L., Redline, S., O'Donnell, C. J., . . . Cushman, M. (2014). A genetic association study of D-dimer levels with 50 K SNPs from a candidate gene chip in four ethnic groups. THROMBOSIS RESEARCH, 134(2), 462-467. doi:10.1016/j.thromres.2014.05.018

Guan, W., Steffen, B. T., Lemaitre, R. N., Wu, J. H. Y., Tanaka, T., Manichaikul, A., . . . Steffen, L. M. (2014). Genome-Wide Association Study of Plasma N6 Polyunsaturated Fatty Acids Within the Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium. CIRCULATION-CARDIOVASCULAR GENETICS, 7(3), 321-331. doi:10.1161/CIRCGENETICS.113.000208

Casas-Agustench, P., Arnett, D. K., Smith, C. E., Lai, C. -Q., Parnell, L. D., Borecki, I. B., . . . Ordovas, J. M. (2014). Saturated Fat Intake Modulates the Association between an Obesity Genetic Risk Score and Body Mass Index in Two US Populations. JOURNAL OF THE ACADEMY OF NUTRITION AND DIETETICS, 114(12), 1954-1966. doi:10.1016/j.jand.2014.03.014

Manichaikul, A., Hoffman, E. A., Smolonska, J., Gao, W., Cho, M. H., Baumhauer, H., . . . Barr, R. G. (2014). Genome-Wide Study of Percent Emphysema on Computed Tomography in the General Population The Multi-Ethnic Study of Atherosclerosis Lung/SNP Health Association Resource Study. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 189(4), 408-418. doi:10.1164/rccm.201306-1061OC

Peloso, G. M., Auer, P. L., Bis, J. C., Voorman, A., Morrison, A. C., Stitziel, N. O., . . . Cupples, L. A. (2014). Association of Low-Frequency and Rare Coding-Sequence Variants with Blood Lipids and Coronary Heart Disease in 56,000 Whites and Blacks. AMERICAN JOURNAL OF HUMAN GENETICS, 94(2), 223-232. doi:10.1016/j.ajhg.2014.01.009

Causal Effects of Body Mass Index on Cardiometabolic Traits and Events: A Mendelian Randomization Analysis (2014). American journal of human genetics, 94(2), 312. doi:10.1016/j.ajhg.2014.01.012

Holmes, M. V., Asselbergs, F. W., Palmer, T. M., Drenos, F., Lanktree, M. B., Nelson, C. P., . . . Casas, J. P. (2015). Mendelian randomization of blood lipids for coronary heart disease. EUROPEAN HEART JOURNAL, 36(9), 539-+. doi:10.1093/eurheartj/eht571

Huckins, L. M., Boraska, V., Franklin, C. S., Floyd, J. A. B., Southam, L., Sullivan, P. F., . . . Tachmazidou, I. (2014). Using ancestry-informative markers to identify fine structure across 15 populations of European origin. EUROPEAN JOURNAL OF HUMAN GENETICS, 22(10), 1190-1200. doi:10.1038/ejhg.2014.1

Manichaikul, A., Rich, S. S., Perry, H., Yeboah, J., & Law, M. (2014). A Functionally Significant Polymorphism in ID3 Is Associated with Human Coronary Pathology. PLOS ONE, 9(9). doi:10.1371/journal.pone.0109222

Cefalu, W. T., Boulton, A. J. M., Tamborlane, W. V., Moses, R. G., LeRoith, D., Greene, E. L., . . . Reynolds, L. (2014). Status of Diabetes Care: "It Just Doesn't Get Any Better ... or Does It?". DIABETES CARE, 37(7), 1782-1785. doi:10.2337/dc14-1073

Ay, H., Arsava, E. M., Andsberg, G., Benner, T., Brown, R. D. J., Chapman, S. N., . . . Meschia, J. F. (2014). Pathogenic Ischemic Stroke Phenotypes in the NINDS-Stroke Genetics Network. STROKE, 45(12), 3589-+. doi:10.1161/STROKEAHA.114.007362

Stitziel, N. O., Won, H. -H., Morrison, A. C., Peloso, G. M., Do, R., Lange, L. A., . . . Kathiresan, S. (2014). Inactivating Mutations in NPC1L1 and Protection from Coronary Heart Disease. NEW ENGLAND JOURNAL OF MEDICINE, 371(22), 2072-2082. doi:10.1056/NEJMoa1405386

Naik, R. P., Derebail, V. K., Grams, M. E., Franceschini, N., Auer, P. L., Peloso, G. M., . . . Reiner, A. P. (2014). Association of Sickle Cell Trait With Chronic Kidney Disease and Albuminuria in African Americans. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 312(20), 2115-2125. doi:10.1001/jama.2014.15063

Evangelou, M., Smyth, D. J., Fortune, M. D., Burren, O. S., Walker, N. M., Guo, H., . . . Wallace, C. (2014). A Method for Gene-Based Pathway Analysis Using Genomewide Association Study Summary Statistics Reveals Nine New Type 1 Diabetes Associations. GENETIC EPIDEMIOLOGY, 38(8), 661-670. doi:10.1002/gepi.21853

Beisswenger, P. J., Howell, S. K., Russell, G., Miller, M. E., Rich, S. S., & Mauer, M. (2014). Detection of diabetic nephropathy from advanced glycation endproducts (AGEs) differs in plasma and urine, and is dependent on the method of preparation. AMINO ACIDS, 46(2), 311-319. doi:10.1007/s00726-013-1533-x

Holmes, M. V., Lange, L. A., Palmer, T., Lanktree, M. B., North, K. E., Almoguera, B., . . . Keating, B. J. (2014). Causal Effects of Body Mass Index on Cardiometabolic Traits and Events: A Mendelian Randomization Analysis. AMERICAN JOURNAL OF HUMAN GENETICS, 94(2), 198-208. doi:10.1016/j.ajhg.2013.12.014

Mitchell, B. D., Fornage, M., McArdle, P. F., Cheng, Y. -C., Pulit, S. L., Wong, Q., . . . de Bakker, P. I. W. (2014). Using previously genotyped controls in genome-wide association studies (GWAS): application to the Stroke Genetics Network (SiGN). FRONTIERS IN GENETICS, 5. doi:10.3389/fgene.2014.00095

Magnani, J. W., Brody, J. A., Prins, B. P., Arking, D. E., Lin, H., Yin, X., . . . Sotoodehnia, N. (2014). Sequencing of SCN5A Identifies Rare and Common Variants Associated With Cardiac Conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. CIRCULATION-CARDIOVASCULAR GENETICS, 7(3), 365-373. doi:10.1161/CIRCGENETICS.113.000098

Du, M., Auer, P. L., Jiao, S., Haessler, J., Altshuler, D., Boerwinkle, E., . . . Peters, U. (2014). Whole-exome imputation of sequence variants identified two novel alleles associated with adult body height in African Americans. HUMAN MOLECULAR GENETICS, 23(24), 6607-6615. doi:10.1093/hmg/ddu361

Tabor, H. K., Auer, P. L., Jamal, S. M., Chong, J. X., Yu, J. -H., Gordon, A. S., . . . Bamshad, M. J. (2014). Pathogenic Variants for Mendelian and Complex Traits in Exomes of 6,517 European and African Americans: Implications for the Return of Incidental Results. AMERICAN JOURNAL OF HUMAN GENETICS, 95(2), 183-193. doi:10.1016/j.ajhg.2014.07.006

Lange, L. A., Hu, Y., Zhang, H., Xue, C., Schmidt, E. M., Tang, Z. -Z., . . . Willer, C. J. (2014). Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol. AMERICAN JOURNAL OF HUMAN GENETICS, 94(2), 233-245. doi:10.1016/j.ajhg.2014.01.010

Smolonska, J., Koppelman, G. H., Wijmenga, C., Vonk, J. M., Zanen, P., Bruinenberg, M., . . . Postma, D. S. (2014). Common genes underlying asthma and COPD? Genome-wide analysis on the Dutch hypothesis. EUROPEAN RESPIRATORY JOURNAL, 44(4), 860-872. doi:10.1183/09031936.00001914

Burkart, K. M., Manichaikul, A., Wilk, J. B., Ahmed, F. S., Burke, G. L., Enright, P., . . . Barr, R. G. (2014). APOM and high-density lipoprotein cholesterol are associated with lung function and per cent emphysema. EUROPEAN RESPIRATORY JOURNAL, 43(4), 1003-1017. doi:10.1183/09031936.00147612

Goodarzi, M. O., Langefeld, C. D., Xiang, A. H., Chen, Y. -D. I., Guo, X., Hanley, A. J. G., . . . Wagenknecht, L. E. (2014). Insulin Sensitivity and Insulin Clearance Are Heritable and Have Strong Genetic Correlation in Mexican Americans. OBESITY, 22(4), 1157-1164. doi:10.1002/oby.20639

Crosby, J., Peloso, G. M., Auer, P. L., Crosslin, D. R., Stitziel, N. O., Lange, L. A., . . . Kathiresan, S. (2014). Loss-of-Function Mutations in APOC3, Triglycerides, and Coronary Disease. NEW ENGLAND JOURNAL OF MEDICINE, 371(1), 22-31. doi:10.1056/NEJMoa1307095

Zanda, M., Onengut-Gumuscu, S., Walker, N., Shtir, C., Gallo, D., Wallace, C., . . . Rich, S. S. (2014). A Genome-Wide Assessment of the Role of Untagged Copy Number Variants in Type 1 Diabetes. PLOS GENETICS, 10(5). doi:10.1371/journal.pgen.1004367

Manichaikul, A., Rich, S. S., Perry, H., Yeboah, J., Law, M., Davis, M., . . . Taylor, A. M. (2014). A Functionally Significant Polymorphism in ID3 Is Associated with Human Coronary Pathology. PLOS ONE, 9(3). doi:10.1371/journal.pone.0090222

Mesner, L. D., Ray, B., Hsu, Y. -H., Manichaikul, A., Lum, E., Bryda, E. C., . . . Farber, C. R. (2014). Bicc1 is a genetic determinant of osteoblastogenesis and bone mineral density. JOURNAL OF CLINICAL INVESTIGATION, 124(6), 2736-2749. doi:10.1172/JCI73072

Fernandez, C. A., Smith, C., Yang, W., Date, M., Bashford, D., Larsen, E., . . . Relling, M. V. (2014). HLA-DRB1*07:01 is associated with a higher risk of asparaginase allergies. BLOOD, 124(8), 1266-1276. doi:10.1182/blood-2014-03-563742

Ng, M. C. Y., Shriner, D., Chen, B. H., Li, J., Chen, W. -M., Guo, X., . . . Bowden, D. W. (2014). Meta-Analysis of Genome-Wide Association Studies in African Americans Provides Insights into the Genetic Architecture of Type 2 Diabetes. PLOS GENETICS, 10(8). doi:10.1371/journal.pgen.1004517

Pontikos, N., Smyth, D. J., Schuilenburg, H., Howson, J. M. M., Walker, N. M., Burren, O. S., . . . Wallace, C. (2014). A hybrid qPCR/SNP array approach allows cost efficient assessment of KIR gene copy numbers in large samples. BMC GENOMICS, 15. doi:10.1186/1471-2164-15-274

Allen, E. K., Manichaikul, A., Chen, W. -M., Rich, S. S., Daly, K. A., & Sale, M. M. (2014). Evaluation of Replication of Variants Associated with Genetic Risk of Otitis Media. PLOS ONE, 9(8). doi:10.1371/journal.pone.0104212

Zhou, Q., Yang, D., Ombrello, A. K., Zavialov, A. V., Toro, C., Zavialov, A. V., . . . Aksentijevich, I. (2014). Early- Onset Stroke and Vasculopathy Associated with Mutations in ADA2. NEW ENGLAND JOURNAL OF MEDICINE, 370(10), 911-920. doi:10.1056/NEJMoa1307361

Kim, D. S., Crosslin, D. R., Auer, P. L., Suzuki, S. M., Marsillach, J., Burt, A. A., . . . Jarvik, G. P. (2014). Rare coding variation in paraoxonase-1 is associated with ischemic stroke in the NHLBI Exome Sequencing Project. JOURNAL OF LIPID RESEARCH, 55(6), 1173-1178. doi:10.1194/jlr.P049247

2013

Otto, M. C. D. O., Wu, J. H. Y., Baylin, A., Vaidya, D., Rich, S. S., Tsai, M. Y., . . . Mozaffarian, D. (2013). Circulating and Dietary Omega-3 and Omega-6 Polyunsaturated Fatty Acids and Incidence of CVD in the Multi-Ethnic Study of Atherosclerosis. JOURNAL OF THE AMERICAN HEART ASSOCIATION, 2(6). doi:10.1161/JAHA.113.000506

Gordon, A. S., Tabor, H. K., Johnson, A. D., Snively, B. M., Assimes, T. L., Auer, P. L., . . . Nickerson, D. A. (2014). Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset. HUMAN MOLECULAR GENETICS, 23(8), 1957-1963. doi:10.1093/hmg/ddt588

Logsdon, B. A., Dai, J. Y., Auer, P. L., Johnsen, J. M., Ganesh, S. K., Smith, N. L., . . . Kooperberg, C. (2014). A Variational Bayes Discrete Mixture Test for Rare Variant Association. GENETIC EPIDEMIOLOGY, 38(1), 21-30. doi:10.1002/gepi.21772

Do, R., Willer, C. J., Schmidt, E. M., Sengupta, S., Gao, C., Peloso, G. M., . . . Kathiresan, S. (2013). Common variants associated with plasma triglycerides and risk for coronary artery disease. NATURE GENETICS, 45(11), 1345-+. doi:10.1038/ng.2795

Willer, C. J., Schmidt, E. M., Sengupta, S., Peloso, G. M., Gustafsson, S., Kanoni, S., . . . Abecasis, G. R. (2013). Discovery and refinement of loci associated with lipid levels. NATURE GENETICS, 45(11), 1274-+. doi:10.1038/ng.2797

Allen, E. K., Chen, W. -M., Weeks, D. E., Chen, F., Hou, X., Mattos, J. L., . . . Sale, M. M. (2013). A Genome-Wide Association Study of Chronic Otitis Media with Effusion and Recurrent Otitis Media Identifies a Novel Susceptibility Locus on Chromosome 2. JARO-JOURNAL OF THE ASSOCIATION FOR RESEARCH IN OTOLARYNGOLOGY, 14(6), 791-800. doi:10.1007/s10162-013-0411-2

Folsom, A. R., Pankow, J. S., Li, X., Duprez, D. A., Jacobs, D. R. J., Klein, R., . . . Rotter, J. I. (2013). No association of 9p21 with arterial elasticity and retinal microvascular findings. ATHEROSCLEROSIS, 230(2), 301-303. doi:10.1016/j.atherosclerosis.2013.07.049

Hunt, K. A., Mistry, V., Bockett, N. A., Ahmad, T., Ban, M., Barker, J. N., . . . van Heel, D. A. (2013). Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. NATURE, 498(7453), 232-+. doi:10.1038/nature12170

Liu, J. Z., Hov, J. R., Folseraas, T., Ellinghaus, E., Rushbrook, S. M., Doncheva, N. T., . . . Karlsen, T. H. (2013). Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis. NATURE GENETICS, 45(6), 670-+. doi:10.1038/ng.2616

Hinks, A., Cobb, J., Marion, M. C., Prahalad, S., Sudman, M., Bowes, J., . . . Thompson, S. D. (2013). Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. NATURE GENETICS, 45(6), 664-+. doi:10.1038/ng.2614

Liang, S., Steffen, L. M., Steffen, B. T., Guan, W., Weir, N. L., Rich, S. S., . . . Tsai, M. Y. (2013). APOE genotype modifies the association between plasma omega-3 fatty acids and plasma lipids in the Multi-Ethnic Study of Atherosclerosis (MESA). ATHEROSCLEROSIS, 228(1), 181-187. doi:10.1016/j.atherosclerosis.2013.02.004

Smith, M. I., Yatsunenko, T., Manary, M. J., Trehan, I., Mkakosya, R., Cheng, J., . . . Gordon, J. I. (2013). Gut Microbiomes of Malawian Twin Pairs Discordant for Kwashiorkor. SCIENCE, 339(6119), 548-554. doi:10.1126/science.1229000

Wu, J. H. Y., Lemaitre, R. N., Manichaikul, A., Guan, W., Tanaka, T., Foy, M., . . . Mozaffarian, D. (2013). Genome-Wide Association Study Identifies Novel Loci Associated With Concentrations of Four Plasma Phospholipid Fatty Acids in the De Novo Lipogenesis Pathway Results From the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. CIRCULATION-CARDIOVASCULAR GENETICS, 6(2), 171-+. doi:10.1161/CIRCGENETICS.112.964619

Oelsner, E. C., Pottinger, T. D., Burkart, K. M., Allison, M., Buxbaum, S. G., Hansel, N. N., . . . Barr, R. G. (2013). Adhesion molecules, endothelin-1 and lung function in seven population-based cohorts. BIOMARKERS, 18(3), 196-203. doi:10.3109/1354750X.2012.762805

Beisswenger, P. J., Howell, S. K., Russell, G. B., Miller, M. E., Rich, S. S., & Mauer, M. (2013). Early Progression of Diabetic Nephropathy Correlates With Methylglyoxal-Derived Advanced Glycation End Products. DIABETES CARE, 36(10), 3234-3239. doi:10.2337/dc12-2689

O'Connor, T. D., Kiezun, A., Bamshad, M., Rich, S. S., Smith, J. D., Turner, E., . . . Akey, J. M. (2013). Fine-Scale Patterns of Population Stratification Confound Rare Variant Association Tests. PLOS ONE, 8(7). doi:10.1371/journal.pone.0065834

Grove, M. L., Yu, B., Cochran, B. J., Haritunians, T., Bis, J. C., Taylor, K. D., . . . Boerwinkle, E. (2013). Best Practices and Joint Calling of the HumanExome BeadChip: The CHARGE Consortium. PLOS ONE, 8(7). doi:10.1371/journal.pone.0068095

Johnsen, J. M., Auer, P. L., Morrison, A. C., Jiao, S., Wei, P., Haessler, J., . . . Reiner, A. P. (2013). Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project. BLOOD, 122(4), 590-597. doi:10.1182/blood-2013-02-485094

Shah, S. A., Herrington, D. M., Howard, T. D., Divers, J., Arnett, D. K., Burke, G. L., . . . Post, W. (2013). Associations between NOS1AP Single Nucleotide Polymorphisms (SNPs) and QT Interval Duration in Four Racial/Ethnic Groups in the Multi-Ethnic Study of Atherosclerosis (MESA). ANNALS OF NONINVASIVE ELECTROCARDIOLOGY, 18(1), 29-40. doi:10.1111/anec.12028

Erlich, H. A., Valdes, A. M., McDevitt, S. L., Simen, B. B., Blake, L. A., McGowan, K. R., . . . Noble, J. A. (2013). Next Generation Sequencing Reveals the Association of DRB3*02:02 With Type 1 Diabetes. DIABETES, 62(7), 2618-2622. doi:10.2337/db12-1387

Otto, M. C. D. O., Nettleton, J. A., Lemaitre, R. N., Steffen, L. M., Kromhout, D., Rich, S. S., . . . Mozaffarian, D. (2013). Biomarkers of Dairy Fatty Acids and Risk of Cardiovascular Disease in the Multi-Ethnic Study of Atherosclerosis. JOURNAL OF THE AMERICAN HEART ASSOCIATION, 2(4). doi:10.1161/JAHA.113.000092

Powell, R., Davidson, D., Divers, J., Manichaikul, A., Carr, J. J., Detrano, R., . . . Barr, R. G. (2013). Genetic ancestry and the relationship of cigarette smoking to lung function and per cent emphysema in four race/ethnic groups: a cross-sectional study. THORAX, 68(7), 634-642. doi:10.1136/thoraxjnl-2012-202116

Pezzolesi, M. G., Jeong, J., Smiles, A. M., Skupien, J., Mychaleckyj, J. C., Rich, S. S., . . . Krolewski, A. S. (2013). Family-Based Association Analysis Confirms the Role of the Chromosome 9q21.32 Locus in the Susceptibility of Diabetic Nephropathy. PLOS ONE, 8(3). doi:10.1371/journal.pone.0060301

Nackiewicz, D., Manichaikul, A., Szczerba, B., Dey, P., Rich, S., McNamara, C., . . . Bagavant, H. (2013). Inhibitor Of Differentiation 3, A Transcription Factor Regulates Susceptibility To Kidney Disease. ARTHRITIS AND RHEUMATISM, 65, S240.

Faraco, J., Lin, L., Kornum, B. R., Kenny, E. E., Trynka, G., Einen, M., . . . Mignot, E. (2013). ImmunoChip Study Implicates Antigen Presentation to T Cells in Narcolepsy. PLOS GENETICS, 9(2). doi:10.1371/journal.pgen.1003270

Ferreira, R. C., Freitag, D. F., Cutler, A. J., Howson, J. M. M., Rainbow, D. B., Smyth, D. J., . . . Todd, J. A. (2013). Functional IL6R 358Ala Allele Impairs Classical IL-6 Receptor Signaling and Influences Risk of Diverse Inflammatory Diseases. PLOS GENETICS, 9(4). doi:10.1371/journal.pgen.1003444

Jia, X., Han, B., Onengut-Gumuscu, S., Chen, W. -M., Concannon, P. J., Rich, S. S., . . . de Bakker, P. I. W. (2013). Imputing Amino Acid Polymorphisms in Human Leukocyte Antigens. PLOS ONE, 8(6). doi:10.1371/journal.pone.0064683

Ross, O. A., Soto-Ortolaza, A. I., Heckman, M. G., Verbeeck, C., Serie, D. J., Rayaprolu, S., . . . Meschia, J. F. (2013). NOTCH3 Variants and Risk of Ischemic Stroke. PLOS ONE, 8(9). doi:10.1371/journal.pone.0075035

Ay, H., Arsava, E. M., Brown, R., Kittner, S., McArdle, P., Rosand, J., . . . Meschia, J. (2013). Etiologic Stroke Subtypes in the NINDS Stroke Genetics Network Study. NEUROLOGY, 80.

Khan, T. A., Shah, T., Prieto, D., Zhang, W., Price, J., Fowkes, G. R., . . . Casas, J. P. (2013). Apolipoprotein E genotype, cardiovascular biomarkers and risk of stroke: Systematic review and meta-analysis of 14 015 stroke cases and pooled analysis of primary biomarker data from up to 60 883 individuals. INTERNATIONAL JOURNAL OF EPIDEMIOLOGY, 42(2), 475-492. doi:10.1093/ije/dyt034

Meschia, J. F., Arnett, D. K., Ay, H., Brown, R. D., Benavente, O. R., Cole, J. W., . . . Kittner, S. J. (2013). Stroke Genetics Network (SiGN) Study Design and Rationale for a Genome-Wide Association Study of Ischemic Stroke Subtypes. STROKE, 44(10), 2694-2702. doi:10.1161/STROKEAHA.113.001857

2012

Frazier-Wood, A. C., Manichaikul, A., Aslibekyan, S., Borecki, I. B., Goff, D. C., Hopkins, P. N., . . . Arnett, D. K. (2013). Genetic variants associated with VLDL, LDL and HDL particle size differ with race/ethnicity. HUMAN GENETICS, 132(4), 405-413. doi:10.1007/s00439-012-1256-1

Eyre, S., Bowes, J., Diogo, D., Lee, A., Barton, A., Martin, P., . . . Worthington, J. (2012). High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. NATURE GENETICS, 44(12), 1336-1340. doi:10.1038/ng.2462

Asselbergs, F. W., Guo, Y., van Iperen, E. P. A., Sivapalaratnam, S., Tragante, V., Lanktree, M. B., . . . Drenos, F. (2012). Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci. AMERICAN JOURNAL OF HUMAN GENETICS, 91(5), 823-838. doi:10.1016/j.ajhg.2012.08.032

Liu, C. -T., Ng, M. C. Y., Rybin, D., Adeyemo, A., Bielinski, S. J., Boerwinkle, E., . . . Meigs, J. B. (2012). Transferability and fine-mapping of glucose and insulin quantitative trait loci across populations: CARe, the Candidate Gene Association Resource. DIABETOLOGIA, 55(11), 2970-2984. doi:10.1007/s00125-012-2656-4

Wilk, J. B., Shrine, N. R. G., Loehr, L. R., Zhao, J. H., Manichaikul, A., Lopez, L. M., . . . Stricker, B. H. (2012). Genome-Wide Association Studies Identify CHRNA5/3 and HTR4 in the Development of Airflow Obstruction. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 186(7), 622-632. doi:10.1164/rccm.201202-0366OC

Hall, J. L., Duprez, D. A., Barac, A., & Rich, S. S. (2012). A Review of Genetics, Arterial Stiffness, and Blood Pressure in African Americans. JOURNAL OF CARDIOVASCULAR TRANSLATIONAL RESEARCH, 5(3), 302-308. doi:10.1007/s12265-012-9362-y

Saxena, R., Elbers, C. C., Guo, Y., Peter, I., Gaunt, T. R., Mega, J. L., . . . Keating, B. J. (2012). Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci. AMERICAN JOURNAL OF HUMAN GENETICS, 90(3), 410-425. doi:10.1016/j.ajhg.2011.12.022

Saxena, R., Elbers, C. C., Guo, Y., Peter, I., Gaunt, T. R., Mega, J. L., . . . Keating, B. J. (2012). Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci (vol 90, pg 410, 2012). AMERICAN JOURNAL OF HUMAN GENETICS, 90(4), 753. doi:10.1016/j.ajhg.2012.03.001

Manichaikul, A., Naj, A. C., Herrington, D., Post, W., Rich, S. S., & Rodriguez, A. (2012). Association of SCARB1 Variants With Subclinical Atherosclerosis and Incident Cardiovascular Disease The Multi-Ethnic Study of Atherosclerosis. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, 32(8), 1991-U583. doi:10.1161/ATVBAHA.112.249714

Howson, J. M. M., Cooper, J. D., Smyth, D. J., Walker, N. M., Stevens, H., She, J. -X., . . . Rich, S. S. (2012). Evidence of Gene-Gene Interaction and Age-at-Diagnosis Effects in Type 1 Diabetes. DIABETES, 61(11), 3012-3017. doi:10.2337/db11-1694

Norris, J. M., & Rich, S. S. (2012). Genetics of Glucose Homeostasis Implications for Insulin Resistance and Metabolic Syndrome. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, 32(9), 2091-2096. doi:10.1161/ATVBAHA.112.255463

Zanda, M., Onengut, S., Walker, N., Todd, J. A., Clayton, D. G., Rich, S. S., . . . Plagnol, V. (2012). Validity of the Family-Based Association Test for Copy Number Variant Data in the Case of Non-Linear Intensity-Genotype Relationship. GENETIC EPIDEMIOLOGY, 36(8), 895-898. doi:10.1002/gepi.21674

Auer, P. L., Johnsen, J. M., Johnson, A. D., Logsdon, B. A., Lange, L. A., Nalls, M. A., . . . Li, Y. (2012). Imputation of Exome Sequence Variants into Population-Based Samples and Blood-Cell-Trait-Associated Loci in African Americans: NHLBI GO Exome Sequencing Project. AMERICAN JOURNAL OF HUMAN GENETICS, 91(5), 794-808. doi:10.1016/j.ajhg.2012.08.031

Hancock, D. B., Artigas, M. S., Gharib, S. A., Henry, A., Manichaikul, A., Ramasamy, A., . . . London, S. J. (2012). Genome-Wide Joint Meta-Analysis of SNP and SNP-by-Smoking Interaction Identifies Novel Loci for Pulmonary Function. PLOS GENETICS, 8(12). doi:10.1371/journal.pgen.1003098

Raychaudhuri, S., & Rich, S. S. (2012). Autoimmunity: insights from human genomics Editorial overview. CURRENT OPINION IN IMMUNOLOGY, 24(5), 513-515. doi:10.1016/j.coi.2012.09.006

Musunuru, K., Romaine, S. P. R., Lettre, G., Wilson, J. G., Volcik, K. A., Tsai, M. Y., . . . Rader, D. J. (2012). Multi-Ethnic Analysis of Lipid-Associated Loci: The NHLBI CARe Project. PLOS ONE, 7(5). doi:10.1371/journal.pone.0036473

Caramori, M. L., Kim, Y., Moore, J. H., Rich, S. S., Mychaleckyj, J. C., Kikyo, N., & Mauer, M. (2012). Gene Expression Differences in Skin Fibroblasts in Identical Twins Discordant for Type 1 Diabetes. DIABETES, 61(3), 739-744. doi:10.2337/db11-0617

Manichaikul, A., Palmas, W., Rodriguez, C. J., Peralta, C. A., Divers, J., Guo, X., . . . Mychaleckyj, J. C. (2012). Population Structure of Hispanics in the United States: The Multi-Ethnic Study of Atherosclerosis. PLOS GENETICS, 8(4), 285-298. doi:10.1371/journal.pgen.1002640

Elbers, C. C., Guo, Y., Tragante, V., van Iperen, E. P. A., Lanktree, M. B., Castillo, B. A., . . . Keating, B. J. (2012). Gene-Centric Meta-Analysis of Lipid Traits in African, East Asian and Hispanic Populations. PLOS ONE, 7(12). doi:10.1371/journal.pone.0050198

Cooper, J. D., Howson, J. M. M., Smyth, D., Walker, N. M., Stevens, H., Yang, J. H. M., . . . Rich, S. S. (2012). Confirmation of novel type 1 diabetes risk loci in families. DIABETOLOGIA, 55(4), 996-1000. doi:10.1007/s00125-012-2450-3

2011

Hunt, K. A., Smyth, D. J., Balschun, T., Ban, M., Mistry, V., Ahmad, T., . . . van Heel, D. A. (2012). Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry. NATURE GENETICS, 44(1), 3-5. doi:10.1038/ng.1037

Trynka, G., Hunt, K. A., Bockett, N. A., Romanos, J., Mistry, V., Szperl, A., . . . van Heel, D. A. (2011). Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. NATURE GENETICS, 43(12), 1193-1U45. doi:10.1038/ng.998

Chen, W. -M., Manichaikul, A., & Rich, S. S. (2011). Identifying variants that contribute to linkage for dichotomous and quantitative traits in extended pedigrees.. BMC proceedings, 5 Suppl 9, S68. doi:10.1186/1753-6561-5-s9-s68

Cheng, Y. -C., O'Connell, J. R., Cole, J. W., Stine, O. C., Dueker, N., McArdle, P. F., . . . Mitchell, B. D. (2011). Genome-Wide Association Analysis of Ischemic Stroke in Young Adults. G3-GENES GENOMES GENETICS, 1(6), 505-513. doi:10.1534/g3.111.001164

Hsu, F. -C., Sides, E. G., Mychaleckyj, J. C., Worrall, B. B., Elias, G. A., Liu, Y., . . . Sale, M. M. (2011). Transcobalamin 2 variant associated with poststroke homocysteine modifies recurrent stroke risk. NEUROLOGY, 77(16), 1543-1550. doi:10.1212/WNL.0b013e318233b1f9

Soler Artigas, M., Loth, D. W., Wain, L. V., Gharib, S. A., Obeidat, M., Tang, W., . . . Tobin, M. D. (2011). Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. NATURE GENETICS, 43(11), 1082-1090. doi:10.1038/ng.941

Manichaikul, A., Chen, W. -M., Williams, K., Wong, Q., Sale, M. M., Pankow, J. S., . . . Mychaleckyj, J. C. (2012). Analysis of family- and population-based samples in cohort genome-wide association studies. HUMAN GENETICS, 131(2), 275-287. doi:10.1007/s00439-011-1071-0

Holmes, M. V., Newcombe, P., Hubacek, J. A., Sofat, R., Ricketts, S. L., Cooper, J., . . . Casas, J. P. (2011). Effect modification by population dietary folate on the association between MTHFR genotype, homocysteine, and stroke risk: a meta-analysis of genetic studies and randomised trials. LANCET, 378(9791), 584-594. doi:10.1016/S0140-6736(11)60872-6

Hinch, A. G., Tandon, A., Patterson, N., Song, Y., Rohland, N., Palmer, C. D., . . . Myers, S. R. (2011). The landscape of recombination in African Americans. NATURE, 476(7359), 170-U67. doi:10.1038/nature10336

Meschia, J. F., Worrall, B. B., & Rich, S. S. (2011). Genetic susceptibility to ischemic stroke. NATURE REVIEWS NEUROLOGY, 7(7), 369-378. doi:10.1038/nrneurol.2011.80

Morahan, G., Mehta, M., James, I., Chen, W. -M., Akolkar, B., Erlich, H. A., . . . Rich, S. S. (2011). Tests for Genetic Interactions in Type 1 Diabetes Linkage and Stratification Analyses of 4,422 Affected Sib-Pairs. DIABETES, 60(3), 1030-1040. doi:10.2337/db10-1195

Rich, S. S., & Hall, I. M. (2011). DNA Structural Variants as Genetic Risk Factors for the Long QT Syndrome. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 57(1), 48-50. doi:10.1016/j.jacc.2010.07.040

Lettre, G., Palmer, C. D., Young, T., Ejebe, K. G., Allayee, H., Benjamin, E. J., . . . Boerwinkle, E. (2011). Genome-Wide Association Study of Coronary Heart Disease and Its Risk Factors in 8,090 African Americans: The NHLBI CARe Project. PLOS GENETICS, 7(2). doi:10.1371/journal.pgen.1001300

Cotsapas, C., Voight, B. F., Rossin, E., Lage, K., Neale, B. M., Wallace, C., . . . Daly, M. J. (2011). Pervasive Sharing of Genetic Effects in Autoimmune Disease. PLOS GENETICS, 7(8). doi:10.1371/journal.pgen.1002254

Dauber, A., Yu, Y., Turchin, M. C., Chiang, C. W., Meng, Y. A., Demerath, E. W., . . . Hirschhorn, J. N. (2011). Genome-wide Association of Copy-Number Variation Reveals an Association between Short Stature and the Presence of Low-Frequency Genomic Deletions. AMERICAN JOURNAL OF HUMAN GENETICS, 89(6), 751-759. doi:10.1016/j.ajhg.2011.10.014

Figler, R. A., Wang, G., Srinivasan, S., Jung, D. Y., Zhang, Z., Pankow, J. S., . . . Linden, J. (2011). Links Between Insulin Resistance, Adenosine A_2B Receptors, and Inflammatory Markers in Mice and Humans. DIABETES, 60(2), 669-679. doi:10.2337/db10-1070

Lemaitre, R. N., Tanaka, T., Tang, W., Manichaikul, A., Foy, M., Kabagambe, E. K., . . . Steffen, L. M. (2011). Genetic Loci Associated with Plasma Phospholipid n-3 Fatty Acids: A Meta-Analysis of Genome-Wide Association Studies from the CHARGE Consortium. PLOS GENETICS, 7(7). doi:10.1371/journal.pgen.1002193

Pezzolesi, M. G., Poznik, G. D., Skupien, J., Smiles, A. M., Mychaleckyj, J. C., Rich, S. S., . . . Krolewski, A. S. (2011). An intergenic region on chromosome 13q33.3 is associated with the susceptibility to kidney disease in type 1 and 2 diabetes. KIDNEY INTERNATIONAL, 80(1), 105-111. doi:10.1038/ki.2011.64

Chen, W. -M., Allen, E. K., Mychaleckyj, J. C., Chen, F., Hou, X., Rich, S. S., . . . Sale, M. M. (2011). Significant linkage at chromosome 19q for otitis media with effusion and/or recurrent otitis media (COME/ROM). BMC MEDICAL GENETICS, 12. doi:10.1186/1471-2350-12-124

Sale, M. M., Chen, W. -M., Weeks, D. E., Mychaleckyj, J. C., Hou, X., Marion, M., . . . Daly, K. A. (2011). Evaluation of 15 Functional Candidate Genes for Association with Chronic Otitis Media with Effusion and/or Recurrent Otitis Media (COME/ROM). PLOS ONE, 6(8). doi:10.1371/journal.pone.0022297

Meschia, J. F., Nalls, M., Matarin, M., Brott, T. G., Brown, R. D. J., Hardy, J., . . . Worrall, B. B. (2011). Siblings With Ischemic Stroke Study Results of a Genome-Wide Scan for Stroke Loci. STROKE, 42(10), 2726-2U83. doi:10.1161/STROKEAHA.111.620484

Meschia, J. F., Singleton, A., Nalls, M. A., Rich, S. S., Sharma, P., Ferrucci, L., . . . Worrall, B. B. (2011). Genomic Risk Profiling of Ischemic Stroke: Results of an International Genome-Wide Association Meta-Analysis. PLOS ONE, 6(9). doi:10.1371/journal.pone.0023161

2010

Manichaikul, A., Mychaleckyj, J. C., Rich, S. S., Daly, K., Sale, M., & Chen, W. -M. (2010). Robust relationship inference in genome-wide association studies. BIOINFORMATICS, 26(22), 2867-2873. doi:10.1093/bioinformatics/btq559

Allison, M. A., Peralta, C. A., Wassel, C. L., Aboyans, V., Arnett, D. K., Cushman, M., . . . Criqui, M. H. (2010). Genetic ancestry and lower extremity peripheral artery disease in the Multi-Ethnic Study of Atherosclerosis. VASCULAR MEDICINE, 15(5), 351-359. doi:10.1177/1358863X10375586

Maecker, H. T., & McCoy, J. P. J. (2010). A model for harmonizing flow cytometry in clinical trials. NATURE IMMUNOLOGY, 11(11), 975-978. doi:10.1038/ni1110-975

Palmer, N. D., Langefeld, C. D., Ziegler, J. T., Hsu, F., Haffner, S. M., Fingerlin, T., . . . Bowden, D. W. (2010). Candidate loci for insulin sensitivity and disposition index from a genome-wide association analysis of Hispanic participants in the Insulin Resistance Atherosclerosis (IRAS) Family Study. DIABETOLOGIA, 53(2), 281-289. doi:10.1007/s00125-009-1586-2

Musunuru, K., Lettre, G., Young, T., Farlow, D. N., Pirruccello, J. P., Ejebe, K. G., . . . Gabriel, S. B. (2010). Candidate Gene Association Resource (CARe) Design, Methods, and Proof of Concept. CIRCULATION-CARDIOVASCULAR GENETICS, 3(3), 267-U94. doi:10.1161/CIRCGENETICS.109.882696

Pociot, F., Akolkar, B., Concannon, P., Erlich, H. A., Julier, C., Morahan, G., . . . Nerup, J. (2010). Genetics of Type 1 Diabetes: What's Next?. DIABETES, 59(7), 1561-1571. doi:10.2337/db10-0076

Burdon, K. P., Rudock, M. E., Lehtinen, A. B., Langefeld, C. D., Bowden, D. W., Register, T. C., . . . Rich, S. S. (2010). Human Lipoxygenase Pathway Gene Variation and Association with Markers of Subclinical Atherosclerosis in the Diabetes Heart Study. MEDIATORS OF INFLAMMATION, 2010. doi:10.1155/2010/170153

Campbell, C. Y., Fang, B. F., Guo, X., Peralta, C. A., Psaty, B. M., Rich, S. S., . . . Post, W. S. (2010). Associations between Genetic Variants in the ACE, AGT, AGTR1 and AGTR2 Genes and Renal Function in the Multi-Ethnic Study of Atherosclerosis. AMERICAN JOURNAL OF NEPHROLOGY, 32(2), 156-162. doi:10.1159/000315866

Naj, A. C., West, M., Rich, S. S., Post, W., Kao, W. H. L., Wasserman, B. A., . . . Rodriguez, A. (2010). Association of Scavenger Receptor Class B Type I Polymorphisms With Subclinical Atherosclerosis The Multi-Ethnic Study of Atherosclerosis. CIRCULATION-CARDIOVASCULAR GENETICS, 3(1), 47-U115. doi:10.1161/CIRCGENETICS.109.903195

Leak, T. S., Langefeld, C. D., Keene, K. L., Gallagher, C. J., Lu, L., Mychaleckyj, J. C., . . . Sale, M. M. (2010). Chromosome 7p linkage and association study for diabetes related traits and type 2 diabetes in an African-American population enriched for nephropathy. BMC MEDICAL GENETICS, 11. doi:10.1186/1471-2350-11-22

Van Hee, V. C., Adar, S. D., Szpiro, A. A., Barr, R. G., Roux, A. D., Bluemke, D. A., . . . Kaufman, J. D. (2010). Common Genetic Variation, Residential Proximity to Traffic Exposure, and Left Ventricular Mass: The Multi-Ethnic Study of Atherosclerosis. ENVIRONMENTAL HEALTH PERSPECTIVES, 118(7), 962-969. doi:10.1289/ehp.0901535

Doran, A. C., Lehtinen, A. B., Meller, N., Lipinski, M. J., Slayton, R. P., Oldham, S. N., . . . McNamara, C. A. (2010). Id3 Is a Novel Atheroprotective Factor Containing a Functionally Significant Single-Nucleotide Polymorphism Associated With Intima-Media Thickness in Humans. CIRCULATION RESEARCH, 106(7), 1303-U299. doi:10.1161/CIRCRESAHA.109.210294