Rafaels, Nicholas

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

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

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

APOε4 is associated with enhanced in vivo innate immune responses in human subjects

Gale, S. C., Gao, L., Mikacenic, C., Coyle, S. M., Rafaels, N., Murray Dudenkov, T., Madenspacher, J. H., Draper, D. W., Ge, W., Aloor, J. J., et al. (2014) · Journal of Allergy and Clinical Immunology

Immune Response and InflammationInflammasome and immune disorders

Cited by 202

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

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

Genomic and transcriptomic analyses of aortic stenosis enhance therapeutic target discovery and disease prediction

Small, A. M., Yang, T.-Y., Itoh, S., Thériault, S., Dufresne, L., Kurosawa, R., Komuro, I., Matsuda, K., Vy, H. M. T., Farber-Eger, E. H., et al. (2026) · Nature Genetics

Cardiac Valve Diseases and TreatmentsGenetic Associations and Epidemiology

Cited by 18