Mathias, Rasika A.

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

Taliun, D., Harris, D. N., Kessler, M. D., Carlson, J., Szpiech, Z. A., Torres, R., Taliun, S. A. G., Corvelo, A., Gogarten, S. M., Kang, H. M., et al. (2021) · Nature

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 2,213

Genome partitioning of genetic variation for complex traits using common SNPs

Yang, J., Manolio, T. A., Pasquale, L. R., Boerwinkle, E., Caporaso, N., Cunningham, J. M., de Andrade, M., Feenstra, B., Feingold, E., Hayes, M. G., et al. (2011) · Nature Genetics

Genetic Associations and EpidemiologyGenetic and phenotypic traits in livestock

Cited by 890

Inherited causes of clonal haematopoiesis in 97,691 whole genomes

Bick, A. G., Weinstock, J. S., Nandakumar, S. K., Fulco, C. P., Bao, E. L., Zekavat, S. M., Szeto, M. D., Liao, X., Leventhal, M. J., Nasser, J., et al. (2020) · Nature

Acute Myeloid Leukemia ResearchGenetic Associations and Epidemiology

Cited by 733

Detectable clonal mosaicism from birth to old age and its relationship to cancer

Laurie, C. C., Laurie, C. A., Rice, K., Doheny, K. F., Zelnick, L. R., McHugh, C. P., Ling, H., Hetrick, K. N., Pugh, E. W., Amos, C., et al. (2012) · Nature Genetics

Genomic variations and chromosomal abnormalitiesCancer Genomics and Diagnostics

Cited by 594

Sensitive detection of chromosomal segments of distinct ancestry in admixed populations

Price, A. L., Tandon, A., Patterson, N., Barnes, K. C., Rafaels, N., Ruczinski, I., Beaty, T. H., Mathias, R., Reich, D., & Myers, S. (2009) · PLoS Genetics

Forensic and Genetic ResearchGenetic Associations and Epidemiology

Cited by 539

Recovery of trait heritability from whole genome sequence data

Wainschtein, P., Jain, D., Zheng, Z., TOPMed Anthropometry Working Group, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Cupples, L. A., Shadyab, A. H., McKnight, B., Shoemaker, B. M., Mitchell, B. D., et al. (2019) · Nature Genetics

Genetic Associations and EpidemiologyGenetic and phenotypic traits in livestock

Cited by 515

Telomerase mutations in smokers with severe emphysema

Stanley, S. E., Chen, J. J. L., Podlevsky, J. D., Alder, J. K., Hansel, N. N., Mathias, R. A., Qi, X., Rafaels, N. M., Wise, R. A., Silverman, E. K., et al. (2015) · Journal of Clinical Investigation

Telomeres, Telomerase, and SenescenceChronic Obstructive Pulmonary Disease (COPD) Research

Cited by 196

Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms

Rusu, V., Hoch, E., Mercader, J. M., Tenen, D. E., Gymrek, M., Hartigan, C. R., DeRan, M., von Grotthuss, M., Fontanillas, P., Spooner, A., et al. (2017) · Cell

Genetic Associations and EpidemiologyMetabolism, Diabetes, and Cancer

Cited by 152

Increased Genetic Vulnerability to Smoking at CHRNA5 in Early-Onset Smokers

Hartz, S. M., Short, S. E., Saccone, N. L., Culverhouse, R., Chen, L., Schwantes-An, T.-H., Coon, H., Han, Y., Stephens, S. H., Sun, J., et al. (2012) · Archives of General Psychiatry

Smoking Behavior and CessationGenetic Associations and Epidemiology

Cited by 75

Multiethnic Exome-Wide Association Study of Subclinical Atherosclerosis

Natarajan, P., Bis, J. C., Bielak, L. F., Cox, A. J., Dörr, M., Feitosa, M. F., Franceschini, N., Guo, X., Hwang, S.-J., Isaacs, A., et al. (2016) · Circulation: Cardiovascular Genetics

Genetic Associations and EpidemiologyAtherosclerosis and Cardiovascular Diseases

Cited by 66

Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program

Cade, B. E., Lee, J., Sofer, T., Wang, H., Zhang, M., Chen, H., Gharib, S. A., Gottlieb, D. J., Guo, X., Lane, J. M., et al. (2021) · Genome Medicine

Obstructive Sleep Apnea ResearchGenetic Associations and Epidemiology

Cited by 33

Whole genome sequencing identifies novel genetic mutations in patients with eczema herpeticum

Bin, L., Malley, C., Taylor, P., Preethi Boorgula, M., Chavan, S., Daya, M., Mathias, M., Shankar, G., Rafaels, N., Vergara, C., et al. (2021) · Allergy

Dermatology and Skin DiseasesHerpesvirus Infections and Treatments

Cited by 33

Replicated methylation changes associated with eczema herpeticum and allergic response

Boorgula, M. P., Taub, M. A., Rafaels, N., Daya, M., Campbell, M., Chavan, S., Shetty, A., Cheadle, C., Barkataki, S., Fan, J., et al. (2019) · Clinical Epigenetics

Epigenetics and DNA MethylationDermatology and Skin Diseases

Cited by 28

Structural variation across 138,134 samples in the TOPMed consortium

Jun, G., English, A., Metcalf, G., Yang, J., Chaisson, M., Pankratz, N., Menon, V., Salerno, W., Krasheninina, O., Smith, A., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory)

Genomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology

Cited by 24

Gene and protein expression in human megakaryocytes derived from induced pluripotent stem cells

Kammers, K., Taub, M. A., Mathias, R. A., Yanek, L. R., Kanchan, K., Venkatraman, V., Sundararaman, N., Martin, J., Liu, S., Hoyle, D., et al. (2021) · Journal of Thrombosis and Haemostasis

Platelet Disorders and TreatmentsPluripotent Stem Cells Research

Cited by 10

Evaluating genomic signatures of aging in brain tissue as it relates to Alzheimer’s disease

Lynch, M. T., Taub, M. A., Farfel, J. M., Yang, J., Abadir, P., De Jager, P. L., Grodstein, F., Bennett, D. A., & Mathias, R. A. (2023) · Scientific Reports

Dementia and Cognitive Impairment ResearchAlzheimer's disease research and treatments

Cited by 10