Calculated based on number of publications stored in Pure and citations from Scopus
20062024

Research activity per year

Search results

  • 2024

    Large-scale cross-ancestry genome-wide meta-analysis of serum urate

    Cho, C., Kim, B., Kim, D. S., Hwang, M. Y., Shim, I., Song, M., Lee, Y. C., Jung, S. H., Cho, S. K., Park, W. Y., Myung, W., Kim, B. J., Do, R., Choi, H. K., Merriman, T. R., Kim, Y. J. & Won, H. H., Dec 2024, In: Nature Communications. 15, 1, 3441.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • 2023

    An atlas of associations between 14 micronutrients and 22 cancer outcomes: Mendelian randomization analyses

    Kim, J. Y., Song, M., Kim, M. S., Natarajan, P., Do, R., Myung, W. & Won, H. H., Dec 2023, In: BMC Medicine. 21, 1, 316.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    6 Scopus citations
  • Causal effect of adiposity on the risk of 19 gastrointestinal diseases: a Mendelian randomization study

    Kim, M. S., Song, M., Kim, S., Kim, B., Kang, W., Kim, J. Y., Myung, W., Lee, I., Do, R., Khera, A. V. & Won, H. H., May 2023, In: Obesity. 31, 5, p. 1436-1444 9 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    5 Scopus citations
  • Cholesterol Contributes to Risk, Severity, and Machine Learning-Driven Diagnosis of Lyme Disease

    Forrest, I. S., O'neal, A. J., Pedra, J. H. F. & Do, R., 15 Sep 2023, In: Clinical Infectious Diseases. 77, 6, p. 839-847 9 p.

    Research output: Contribution to journalArticlepeer-review

    1 Scopus citations
  • Machine learning-based markers for CAD – Authors' reply

    Forrest, I. S., Petrazzini, B. O. & Do, R., 15 Jul 2023, In: The Lancet. 402, 10397, p. 184 1 p.

    Research output: Contribution to journalLetterpeer-review

    Open Access
  • Prioritization of therapeutic targets for dyslipidemia using integrative multi-omics and multi-trait analysis

    Kim, M. S., Song, M., Kim, B., Shim, I., Kim, D. S., Natarajan, P., Do, R. & Won, H. H., 19 Sep 2023, In: Cell Reports Medicine. 4, 9, 101112.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • The Association of Alcohol Consumption with Glaucoma and Related Traits: Findings from the UK Biobank

    Members of the International Glaucoma Genetics Consortium, Modifiable Risk Factors for Glaucoma Collaboration, the UK Biobank Eye and Vision Consortium, and the International Glaucoma Genetics Consortium, Members of the Modifiable Risk Factors for Glaucoma Collaboration & Members of the UK Biobank Eye and Vision Consortium, 1 Jul 2023, In: Ophthalmology Glaucoma. 6, 4, p. 366-379 14 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    12 Scopus citations
  • 2022

    Statin Use in Relation to Intraocular Pressure, Glaucoma, and Ocular Coherence Tomography Parameters in the UK Biobank

    Kim, J., Kennedy Neary, M. T., Aschard, H., Palakkamanil, M. M., Do, R., Wiggs, J. L., Khawaja, A. P., Pasquale, L. R. & Kang, J. H., May 2022, In: Investigative Ophthalmology and Visual Science. 63, 5, 31.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    5 Scopus citations
  • The Association between Serum Lipids and Intraocular Pressure in 2 Large United Kingdom Cohorts

    Modifiable Risk Factors for Glaucoma Collaboration and the UK Biobank Eye and Vision Consortium, Sep 2022, In: Ophthalmology. 129, 9, p. 986-996 11 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    12 Scopus citations
  • Whole-Genome Sequencing Association Analyses of Stroke and Its Subtypes in Ancestrally Diverse Populations from Trans-Omics for Precision Medicine Project

    Hu, Y., Haessler, J. W., Manansala, R., Wiggins, K. L., Moscati, A., Beiser, A., Heard-Costa, N. L., Sarnowski, C., Raffield, L. M., Chung, J., Marini, S., Anderson, C. D., Rosand, J., Xu, H., Sun, X., Kelly, T. N., Wong, Q., Lange, L. A., Rotter, J. I., Correa, A., & 19 othersVasan, R. S., Seshadri, S., Rich, S. S., Do, R., Loos, R. J. F., Longstreth, W. T., Bis, J. C., Psaty, B. M., Tirschwell, D. L., Assimes, T. L., Silver, B., Liu, S., Jackson, R., Wassertheil-Smoller, S., Mitchell, B. D., Fornage, M., Auer, P. L., Reiner, A. P. & Kooperberg, C., 1 Mar 2022, In: Stroke. 29, 2, p. 875-885 11 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    9 Scopus citations
  • 2021

    Intraocular Pressure, Glaucoma, and Dietary Caffeine Consumption: A Gene–Diet Interaction Study from the UK Biobank

    Modifiable Risk Factors for Glaucoma Collaboration, Jun 2021, In: Ophthalmology. 128, 6, p. 866-876 11 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    34 Scopus citations
  • Predictive approaches for acute dialysis requirement and death in COVID-19

    Vaid, A., Chan, L., Chaudhary, K., Jaladanki, S. K., Paranjpe, I., Russak, A., Kia, A., Timsina, P., Levin, M. A., He, J. C., Böttinger, E. P., Charney, A. W., Fayad, Z. A., Coca, S. G., Glicksberg, B. S., Nadkarni, G. N., Charney, A., Just, A. C., Glicksberg, B., Nadkarni, G., & 101 othersHuckins, L., O’Reilly, P., Miotto, R., Fayad, Z., Russak, A. J., Rahman, A., Vaid, A., Dobbyn, A. L., Leader, A., Moscati, A., Kapoor, A., Chang, C., Bellaire, C., Carrion, D., Chaudhry, F., Richter, F., Soultanidis, G., Paranjpe, I., Nabeel, I., De Freitas, J., Xu, J., Rush, J., Johnson, K., Vemuri, K., Chaudhary, K., Lepow, L., Cotter, L., Liharska, L., Pereanez, M., Bicak, M., Defelice, N., Naik, N., Beckmann, N., Nadukuru, R., O’Hagan, R., Zhao, S., Somani, S., Van Vleck, T. T., Mutetwa, T., Wanyan, T., Fauveau, V., Yang, Y., Lavin, Y., Lanksy, A., Atreja, A., Del Valle, D., Meyer, D., Golden, E., Fasihuddin, F., Wen, H. H., Rogers, J., Gutierrez, J. L., Walker, L., Singh, M., Danieletto, M., Nieves, M. A., Zweig, M., Pyzik, R., Fayad, R., Glowe, P., Calorossi, S., Kaur, S., Ascolillo, S., Roa, Y., Lala-Trindade, A., Coca, S. G., Percha, B., Sigel, K., Polak, P., Hirten, R., Swartz, T., Do, R., Loos, R. J. F., Charney, D., Nestler, E., Murphy, B., Reich, D., Böttinger, E., Chatani, K., Martin, G., Kovatch, P., Finkelstein, J., Murphy, B., Buxbaum, J., Cho, J., Kasarskis, A., Horowitz, C., Cordon-Cardo, C., Sohn, M., Martin, G., Garcia-Sastre, A., Bagiella, E., Krammer, F., Aberg, J., Narula, J., Wright, R., Lium, E., Wright, R., Gelijns, A., Fuster, V. & Merad, M., 1 Aug 2021, In: Clinical Journal of the American Society of Nephrology. 16, 8, p. 1158-1168 11 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    15 Scopus citations
  • 2019

    Association of the V122I Hereditary Transthyretin Amyloidosis Genetic Variant with Heart Failure among Individuals of African or Hispanic/Latino Ancestry

    Rader, D. J., Damrauer, S. M., Chaudhary, K., Cho, J. H., Liang, L. W., Argulian, E., Chan, L., Dobbyn, A., Guerraty, M. A., Judy, R., Kay, J., Kember, R. L., Levin, M. G., Saha, A., Van Vleck, T., Verma, S. S., Weaver, J., Abul-Husn, N. S., Baras, A., Chirinos, J. A., & 10 othersDrachman, B., Kenny, E. E., Loos, R. J. F., Narula, J., Overton, J., Reid, J., Ritchie, M., Sirugo, G., Nadkarni, G. & Do, R., 10 Dec 2019, In: JAMA - Journal of the American Medical Association. 322, 22, p. 2191-2202 12 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    83 Scopus citations
  • Augmented intelligence with natural language processing applied to electronic health records for identifying patients with non-alcoholic fatty liver disease at risk for disease progression

    Van Vleck, T. T., Chan, L., Coca, S. G., Craven, C. K., Do, R., Ellis, S. B., Kannry, J. L., Loos, R. J. F., Bonis, P. A., Cho, J. & Nadkarni, G. N., Sep 2019, In: International Journal of Medical Informatics. 129, p. 334-341 8 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    29 Scopus citations
  • Erratum: The Genetic Landscape of Diamond-Blackfan Anemia (The American Journal of Human Genetics (2018) 103(6) (930–947), (S0002929718304038) (10.1016/j.ajhg.2018.10.027))

    Ulirsch, J. C., Verboon, J. M., Kazerounian, S., Guo, M. H., Yuan, D., Ludwig, L. S., Handsaker, R. E., Abdulhay, N. J., Fiorini, C., Genovese, G., Lim, E. T., Cheng, A., Cummings, B. B., Chao, K. R., Beggs, A. H., Genetti, C. A., Sieff, C. A., Newburger, P. E., Niewiadomska, E., Matysiak, M., & 22 othersVlachos, A., Lipton, J. M., Atsidaftos, E., Glader, B., Narla, A., Gleizes, P. E., O'Donohue, M. F., Montel-Lehry, N., Amor, D. J., McCarroll, S. A., O'Donnell-Luria, A. H., Gupta, N., Gabriel, S. B., MacArthur, D. G., Lander, E. S., Lek, M., Da Costa, L., Nathan, D. G., Korostelev, A. A., Do, R., Sankaran, V. G. & Gazda, H. T., 7 Feb 2019, In: American Journal of Human Genetics. 104, 2, p. 356 1 p.

    Research output: Contribution to journalComment/debate

    Open Access
    17 Scopus citations
  • Estimation of metabolic syndrome heritability in three large populations including full pedigree and genomic information

    Graziano, F., Biino, G., Bonati, M. T., Neale, B. M., Do, R., Concas, M. P., Vaccargiu, S., Pirastu, M., Terradura-Vagnarelli, O., Cirillo, M., Laurenzi, M., Mancini, M., Zanchetti, A. & Grassi, M., 1 Jul 2019, In: Human Genetics. 138, 7, p. 739-748 10 p.

    Research output: Contribution to journalArticlepeer-review

    5 Scopus citations
  • Genetic analyses of diverse populations improves discovery for complex traits

    Wojcik, G. L., Graff, M., Nishimura, K. K., Tao, R., Haessler, J., Gignoux, C. R., Highland, H. M., Patel, Y. M., Sorokin, E. P., Avery, C. L., Belbin, G. M., Bien, S. A., Cheng, I., Cullina, S., Hodonsky, C. J., Hu, Y., Huckins, L. M., Jeff, J., Justice, A. E., Kocarnik, J. M., & 66 othersLim, U., Lin, B. M., Lu, Y., Nelson, S. C., Park, S. S. L., Poisner, H., Preuss, M. H., Richard, M. A., Schurmann, C., Setiawan, V. W., Sockell, A., Vahi, K., Verbanck, M., Vishnu, A., Walker, R. W., Young, K. L., Zubair, N., Acuña-Alonso, V., Ambite, J. L., Barnes, K. C., Boerwinkle, E., Bottinger, E. P., Bustamante, C. D., Caberto, C., Canizales-Quinteros, S., Conomos, M. P., Deelman, E., Do, R., Doheny, K., Fernández-Rhodes, L., Fornage, M., Hailu, B., Heiss, G., Henn, B. M., Hindorff, L. A., Jackson, R. D., Laurie, C. A., Laurie, C. C., Li, Y., Lin, D. Y., Moreno-Estrada, A., Nadkarni, G., Norman, P. J., Pooler, L. C., Reiner, A. P., Romm, J., Sabatti, C., Sandoval, K., Sheng, X., Stahl, E. A., Stram, D. O., Thornton, T. A., Wassel, C. L., Wilkens, L. R., Winkler, C. A., Yoneyama, S., Buyske, S., Haiman, C. A., Kooperberg, C., Le Marchand, L., Loos, R. J. F., Matise, T. C., North, K. E., Peters, U., Kenny, E. E. & Carlson, C. S., 27 Jun 2019, In: Nature. 570, 7762, p. 514-518 5 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    511 Scopus citations
  • HOPS: A quantitative score reveals pervasive horizontal pleiotropy in human genetic variation is driven by extreme polygenicity of human traits and diseases

    Jordan, D. M., Verbanck, M. & Do, R., 25 Oct 2019, In: Genome Biology. 20, 1, 222.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    30 Scopus citations
  • No causal effects of serum urate levels on the risk of chronic kidney disease: A Mendelian randomization study

    Jordan, D. M., Choi, H. K., Verbanck, M., Topless, R., Won, H. H., Nadkarni, G., Merriman, T. R. & Do, R., 2019, In: PLoS Medicine. 16, 1, e1002725.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    87 Scopus citations
  • Whole Genome Sequencing Identifies CRISPLD2 as a Lung Function Gene in Children With Asthma

    National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) Consortium, 1 Dec 2019, In: Chest. 156, 6, p. 1068-1079 12 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    6 Scopus citations
  • 2018

    Deep-coverage whole genome sequences and blood lipids among 16,324 individuals

    NHLBI TOPMed Lipids Working Group, 1 Dec 2018, In: Nature Communications. 9, 1, 3391.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    116 Scopus citations
  • Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

    Zekavat, S. M., Ruotsalainen, S., Handsaker, R. E., Alver, M., Bloom, J., Poterba, T., Seed, C., Ernst, J., Chaffin, M., Engreitz, J., Peloso, G. M., Manichaikul, A., Yang, C., Ryan, K. A., Fu, M., Johnson, W. C., Tsai, M., Budoff, M., Ramachandran, V. S., Cupples, L. A., & 323 othersRotter, J. I., Rich, S. S., Post, W., Mitchell, B. D., Correa, A., Metspalu, A., Wilson, J. G., Salomaa, V., Kellis, M., Daly, M. J., Neale, B. M., McCarroll, S., Surakka, I., Esko, T., Ganna, A., Ripatti, S., Kathiresan, S., Natarajan, P., Abe, N., Abecasis, G., Albert, C., Allred, N. P., Almasy, L., Alonso, A., Ament, S., Anderson, P., Anugu, P., Applebaum-Bowden, D., Arking, D., Arnett, D. K., Ashley-Koch, A., Aslibekyan, S., Assimes, T., Auer, P., Avramopoulos, D., Barnard, J., Barnes, K., Barr, R. G., Barron-Casella, E., Beaty, T., Becker, D., Becker, L., Beer, R., Begum, F., Beitelshees, A., Benjamin, E., Bezerra, M., Bielak, L., Bis, J., Blackwell, T., Blangero, J., Boerwinkle, E., Borecki, I., Bowler, R., Brody, J., Broeckel, U., Broome, J., Bunting, K., Burchard, E., Cardwell, J., Carty, C., Casaburi, R., Casella, J., Chang, C., Chasman, D., Chavan, S., Chen, B. J., Chen, W. M., Chen, Y. D. I., Cho, M., Choi, S. H., Chuang, L. M., Chung, M., Cornell, E., Crandall, C., Crapo, J., Curran, J., Curtis, J., Custer, B., Damcott, C., Darbar, D., Das, S., David, S., Davis, C., Daya, M., Andrade, M. D., Debaun, M., Deka, R., Demeo, D., Devine, S., Do, R., Duan, Q., Duggirala, R., Durda, P., Dutcher, S., Eaton, C., Ekunwe, L., Ellinor, P., Emery, L., Farber, C., Farnam, L., Fingerlin, T., Flickinger, M., Fornage, M., Franceschini, N., Fullerton, S. M., Fulton, L., Gabriel, S., Gan, W., Gao, Y., Gass, M., Gelb, B., Geng, X., Germer, S., Gignoux, C., Gladwin, M., Glahn, D., Gogarten, S., Gong, D. W., Goring, H., Gu, C. C., Guan, Y., Guo, X., Haessler, J., Hall, M., Harris, D., Hawley, N., He, J., Heavner, B., Heckbert, S., Hernandez, R., Herrington, D., Hersh, C., Hidalgo, B., Hixson, J., Hokanson, J., Hong, E., Hoth, K., Hsiung, C., Huston, H., Hwu, C. M., Irvin, M. R., Jackson, R., Jain, D., Jaquish, C., Jhun, M. A., Johnsen, J., Johnson, A., Johnston, R., Jones, K., Kang, H. M., Kaplan, R., Kardia, S., Kaufman, L., Kelly, S., Kenny, E., Kessler, M., Khan, A., Kinney, G., Konkle, B., Kooperberg, C., Kramer, H., Krauter, S., Lange, C., Lange, E., Lange, L., Laurie, C., Laurie, C., Leboff, M., Lee, S. S., Lee, W. J., Lefaive, J., Levine, D., Levy, D., Lewis, J., Li, Y., Lin, H., Lin, K. H., Liu, S., Liu, Y., Loos, R., Lubitz, S., Lunetta, K., Luo, J., Mahaney, M., Make, B., Manson, J. A., Margolin, L., Martin, L., Mathai, S., Mathias, R., McArdle, P., McDonald, M. L., McFarland, S., McGarvey, S., Mei, H., Meyers, D. A., Mikulla, J., Min, N., Minear, M., Minster, R. L., Montasser, M. E., Musani, S., Mwasongwe, S., Mychaleckyj, J. C., Nadkarni, G., Naik, R., Nekhai, S., Nickerson, D., North, K., O'connell, J., O'connor, T., Ochs-Balcom, H., Pankow, J., Papanicolaou, G., Parker, M., Parsa, A., Penchev, S., Peralta, J. M., Perez, M., Perry, J., Peters, U., Peyser, P., Phillips, L., Phillips, S., Pollin, T., Becker, J. P., Boorgula, M. P., Preuss, M., Prokopenko, D., Psaty, B., Qasba, P., Qiao, D., Qin, Z., Rafaels, N., Raffield, L., Rao, D. C., Rasmussen-Torvik, L., Ratan, A., Redline, S., Reed, R., Regan, E., Reiner, A., Rice, K., Roden, D., Roselli, C., Ruczinski, I., Russell, P., Ruuska, S., Sakornsakolpat, P., Salimi, S., Salzberg, S., Sandow, K., Sankaran, V., Scheller, C., Schmidt, E., Schwander, K., Schwartz, D., Sciurba, F., Seidman, C., Sheehan, V., Shetty, A., Shetty, A., Sheu, W. H. H., Shoemaker, M. B., Silver, B., Silverman, E., Smith, J., Smith, J., Smith, N., Smith, T., Smoller, S., Snively, B., Sofer, T., Sotoodehnia, N., Stilp, A., Streeten, E., Sung, Y. J., Sylvia, J., Szpiro, A., Sztalryd, C., Taliun, D., Tang, H., Taub, M., Taylor, K., Taylor, S., Telen, M., Thornton, T. A., Tinker, L., Tirschwell, D., Tiwari, H., Tracy, R., Vaidya, D., Vandehaar, P., Vrieze, S., Walker, T., Wallace, R., Walts, A., Wan, E., Wang, F. F., Watson, K., Weeks, D. E., Weir, B., Weiss, S., Weng, L. C., Willer, C., Williams, K., Williams, L. K., Wilson, C., Wong, Q., Xu, H., Yanek, L., Yang, I., Yang, R., Zaghloul, N., Zhang, Y., Zhao, S. X., Zhao, W., Zheng, X., Zhi, D., Zhou, X., Zody, M. & Zoellner, S., 1 Dec 2018, In: Nature Communications. 9, 1, 2606.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    69 Scopus citations
  • Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseases

    Verbanck, M., Chen, C. Y., Neale, B. & Do, R., 1 May 2018, In: Nature Genetics. 50, 5, p. 693-698 6 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    3088 Scopus citations
  • Open Access
    1 Scopus citations
  • Open Access
    109 Scopus citations
  • Plasma biomarkers are associated with renal outcomes in individuals with APOL1 risk variants

    Nadkarni, G. N., Chauhan, K., Verghese, D. A., Parikh, C. R., Do, R., Horowitz, C. R., Bottinger, E. P. & Coca, S. G., Jun 2018, In: Kidney International. 93, 6, p. 1409-1416 8 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    21 Scopus citations
  • Rare loss of function variants in candidate genes and risk of colorectal cancer

    NHLBI GO Exome Sequencing Project, Pulmonary Arterial Hypertension (PAH), Severe Asthma Research Program (SARP), Women’s Health Initiative (WHI), Anthropometry Project Team, Blood Count/Hematology Project Team, Blood Pressure Project Team, Data Flow Working Group, Early MI Project Team, ELSI Working Group, Executive Committee, Family Study Project Team, Lipids Project Team, Lung Project Team, Personal Genomics Project Team, Phenotype and Harmonization Working Group, Population Genetics and Statistical Analysis Working Group, Publications and Presentations Working Group, Quantitative Analysis Ad Hoc Task Group, Sequencing and Genotyping Working Group, & 15 othersSteering committee, Stroke Project Team, Structural Variation Working Group, Subclinical/Quantitative Project Team, Acute Lung Injury (ALI), Atherosclerosis Risk in Communities (ARIC), Cardiovascular Health Study (CHS), Chronic Obstructive Pulmonary Disease (COPDGene), Coronary Artery Risk Development in Young Adults (CARDIA), Cystic Fibrosis (CF), Early Pseudomonas Infection Control (EPIC), Framingham Heart Study (FHS), Jackson Heart Study (JHS), Lung Health Study (LHS) & Multi-Ethnic Study of Atherosclerosis (MESA), 1 Oct 2018, In: Human Genetics. 137, 10, p. 795-806 12 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    7 Scopus citations
  • The Genetic Landscape of Diamond-Blackfan Anemia

    Ulirsch, J. C., Verboon, J. M., Kazerounian, S., Guo, M. H., Yuan, D., Ludwig, L. S., Handsaker, R. E., Abdulhay, N. J., Fiorini, C., Genovese, G., Lim, E. T., Cheng, A., Cummings, B. B., Chao, K. R., Beggs, A. H., Genetti, C. A., Sieff, C. A., Newburger, P. E., Niewiadomska, E., Matysiak, M., & 22 othersVlachos, A., Lipton, J. M., Atsidaftos, E., Glader, B., Narla, A., Gleizes, P. E., O'Donohue, M. F., Montel-Lehry, N., Amor, D. J., McCarroll, S. A., O'Donnell-Luria, A. H., Gupta, N., Gabriel, S. B., MacArthur, D. G., Lander, E. S., Lek, M., Da Costa, L., Nathan, D. G., Korostelev, A. A., Do, R., Sankaran, V. G. & Gazda, H. T., 6 Dec 2018, In: American Journal of Human Genetics. 103, 6, p. 930-947 18 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    154 Scopus citations
  • Using full genomic information to predict disease: Breaking down the barriers between complex and mendelian diseases

    Jordan, D. M. & Do, R., 31 Aug 2018, In: Annual Review of Genomics and Human Genetics. 19, p. 289-301 13 p.

    Research output: Contribution to journalReview articlepeer-review

    Open Access
    8 Scopus citations
  • 2017

    Association of Triglyceride-Related Genetic Variants With Mitral Annular Calcification

    CHARGE Extracoronary Calcium Working Group, 20 Jun 2017, In: Journal of the American College of Cardiology. 69, 24, p. 2941-2948 8 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    24 Scopus citations
  • Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms

    CARDIoGRAMplusC4D & EPIC-CVD, 1 Jul 2017, In: Nature Genetics. 49, 7, p. 1113-1119 7 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    224 Scopus citations
  • Genomic correlates of glatiramer acetate adverse cardiovascular effects lead to a novel locus mediating coronary risk

    CARDIoGRAMplusC4D Consortium, MuTHER Consortium, Wellcome Trust Case Control Consortium & CARDIoGRAM Consortium, 1 Aug 2017, In: PLoS ONE. 12, 8, e0182999.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    4 Scopus citations
  • Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity

    Saleheen, D., Natarajan, P., Armean, I. M., Zhao, W., Rasheed, A., Khetarpal, S. A., Won, H. H., Karczewski, K. J., O'Donnell-Luria, A. H., Samocha, K. E., Weisburd, B., Gupta, N., Zaidi, M., Samuel, M., Imran, A., Abbas, S., Majeed, F., Ishaq, M., Akhtar, S., Trindade, K., & 23 othersMucksavage, M., Qamar, N., Zaman, K. S., Yaqoob, Z., Saghir, T., Rizvi, S. N. H., Memon, A., Hayyat Mallick, N., Ishaq, M., Rasheed, S. Z., Memon, F. U. R., Mahmood, K., Ahmed, N., Do, R., Krauss, R. M., MacArthur, D. G., Gabriel, S., Lander, E. S., Daly, M. J., Frossard, P., Danesh, J., Rader, D. J. & Kathiresan, S., 12 Apr 2017, In: Nature. 544, 7649, p. 235-239 5 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    225 Scopus citations
  • Loss of Cardioprotective Effects at the ADAMTS7 Locus as a Result of Gene-Smoking Interactions

    Saleheen, D., Zhao, W., Young, R., Nelson, C. P., Ho, W., Ferguson, J. F., Rasheed, A., Ou, K., Nurnberg, S. T., Bauer, R. C., Goel, A., Do, R., Stewart, A. F. R., Hartiala, J., Zhang, W., Thorleifsson, G., Strawbridge, R. J., Sinisalo, J., Kanoni, S., Sedaghat, S., & 50 othersMarouli, E., Kristiansson, K., Zhao, J. H., Scott, R., Gauguier, D., Shah, S. H., Smith, A. V., Van Zuydam, N., Cox, A. J., Willenborg, C., Kessler, T., Zeng, L., Province, M. A., Ganna, A., Lind, L., Pedersen, N. L., White, C. C., Joensuu, A., Kleber, M. E., Hall, A. S., März, W., Salomaa, V., O'Donnell, C., Ingelsson, E., Feitosa, M. F., Erdmann, J., Bowden, D. W., Palmer, C. N. A., Gudnason, V., Faire, U. D., Zalloua, P., Wareham, N., Thompson, J. R., Kuulasmaa, K., Dedoussis, G., Perola, M., Dehghan, A., Chambers, J. C., Kooner, J., Allayee, H., Deloukas, P., McPherson, R., Stefansson, K., Schunkert, H., Kathiresan, S., Farrall, M., Marcel Frossard, P., Rader, D. J., Samani, N. J. & Reilly, M. P., 13 Jun 2017, In: Circulation. 135, 24, p. 2336-2353 18 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    40 Scopus citations
  • Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease

    Webb, T. R., Erdmann, J., Stirrups, K. E., Stitziel, N. O., Masca, N. G. D., Jansen, H., Kanoni, S., Nelson, C. P., Ferrario, P. G., König, I. R., Eicher, J. D., Johnson, A. D., Hamby, S. E., Betsholtz, C., Ruusalepp, A., Franzén, O., Schadt, E. E., Björkegren, J. L. M., Weeke, P. E., Auer, P. L., & 114 othersSchick, U. M., Lu, Y., Zhang, H., Dube, M. P., Goel, A., Farrall, M., Peloso, G. M., Won, H. H., Do, R., van Iperen, E., Kruppa, J., Mahajan, A., Scott, R. A., Willenborg, C., Braund, P. S., van Capelleveen, J. C., Doney, A. S. F., Donnelly, L. A., Asselta, R., Merlini, P. A., Duga, S., Marziliano, N., Denny, J. C., Shaffer, C., El-Mokhtari, N. E., Franke, A., Heilmann, S., Hengstenberg, C., Hoffmann, P., Holmen, O. L., Hveem, K., Jansson, J. H., Jöckel, K. H., Kessler, T., Kriebel, J., Laugwitz, K. L., Marouli, E., Martinelli, N., McCarthy, M. I., Van Zuydam, N. R., Meisinger, C., Esko, T., Mihailov, E., Escher, S. A., Alver, M., Moebus, S., Morris, A. D., Virtamo, J., Nikpay, M., Olivieri, O., Provost, S., AlQarawi, A., Robertson, N. R., Akinsansya, K. O., Reilly, D. F., Vogt, T. F., Yin, W., Asselbergs, F. W., Kooperberg, C., Jackson, R. D., Stahl, E., Müller-Nurasyid, M., Strauch, K., Varga, T. V., Waldenberger, M., Zeng, L., Chowdhury, R., Salomaa, V., Ford, I., Jukema, J. W., Amouyel, P., Kontto, J., Nordestgaard, B. G., Ferrières, J., Saleheen, D., Sattar, N., Surendran, P., Wagner, A., Young, R., Howson, J. M. M., Butterworth, A. S., Danesh, J., Ardissino, D., Bottinger, E. P., Erbel, R., Franks, P. W., Girelli, D., Hall, A. S., Hovingh, G. K., Kastrati, A., Lieb, W., Meitinger, T., Kraus, W. E., Shah, S. H., McPherson, R., Orho-Melander, M., Melander, O., Metspalu, A., Palmer, C. N. A., Peters, A., Rader, D. J., Reilly, M. P., Loos, R. J. F., Reiner, A. P., Roden, D. M., Tardif, J. C., Thompson, J. R., Wareham, N. J., Watkins, H., Willer, C. J., Samani, N. J., Schunkert, H., Deloukas, P. & Kathiresan, S., 21 Feb 2017, In: Journal of the American College of Cardiology. 69, 7, p. 823-836 14 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    188 Scopus citations
  • 2016

    Analysis of protein-coding genetic variation in 60,706 humans

    Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O'Donnell-Luria, A. H., Ware, J. S., Hill, A. J., Cummings, B. B., Tukiainen, T., Birnbaum, D. P., Kosmicki, J. A., Duncan, L. E., Estrada, K., Zhao, F., Zou, J., Pierce-Hoffman, E., Berghout, J., Cooper, D. N., & 153 othersDeflaux, N., DePristo, M., Do, R., Flannick, J., Fromer, M., Gauthier, L., Goldstein, J., Gupta, N., Howrigan, D., Kiezun, A., Kurki, M. I., Moonshine, A. L., Natarajan, P., Orozco, L., Peloso, G. M., Poplin, R., Rivas, M. A., Ruano-Rubio, V., Rose, S. A., Ruderfer, D. M., Shakir, K., Stenson, P. D., Stevens, C., Thomas, B. P., Tiao, G., Tusie-Luna, M. T., Weisburd, B., Won, H. H., Yu, D., Altshuler, D. M., Ardissino, D., Boehnke, M., Danesh, J., Donnelly, S., Elosua, R., Florez, J. C., Gabriel, S. B., Getz, G., Glatt, S. J., Hultman, C. M., Kathiresan, S., Laakso, M., McCarroll, S., McCarthy, M. I., McGovern, D., McPherson, R., Neale, B. M., Palotie, A., Purcell, S. M., Saleheen, D., Scharf, J. M., Sklar, P., Sullivan, P. F., Tuomilehto, J., Tsuang, M. T., Watkins, H. C., Wilson, J. G., Daly, M. J., MacArthur, D. G., Abboud, H. E., Abecasis, G., Aguilar-Salinas, C. A., Arellano-Campos, O., Atzmon, G., Aukrust, I., Barr, C. L., Bell, G. I., Bergen, S., Bjørkhaug, L., Blangero, J., Bowden, D. W., Budman, C. L., Burtt, N. P., Centeno-Cruz, F., Chambers, J. C., Chambert, K., Clarke, R., Collins, R., Coppola, G., Córdova, E. J., Cortes, M. L., Cox, N. J., Duggirala, R., Farrall, M., Fernandez-Lopez, J. C., Fontanillas, P., Frayling, T. M., Freimer, N. B., Fuchsberger, C., García-Ortiz, H., Goel, A., Gómez-Vázquez, M. J., González-Villalpando, M. E., González-Villalpando, C., Grados, M. A., Groop, L., Haiman, C. A., Hanis, C. L., Hattersley, A. T., Henderson, B. E., Hopewell, J. C., Huerta-Chagoya, A., Islas-Andrade, S., Jacobs, S. B., Jalilzadeh, S., Jenkinson, C. P., Moran, J., Jiménez-Morale, S., Kähler, A., King, R. A., Kirov, G., Kooner, J. S., Kyriakou, T., Lee, J. Y., Lehman, D. M., Lyon, G., MacMahon, W., Magnusson, P. K., Mahajan, A., Marrugat, J., Martínez-Hernández, A., Mathews, C. A., McVean, G., Meigs, J. B., Meitinger, T., Mendoza-Caamal, E., Mercader, J. M., Mohlke, K. L., Moreno-Macías, H., Morris, A. P., Najmi, L. A., Njølstad, P. R., O'Donovan, M. C., Ordóñez-Sánchez, M. L., Owen, M. J., Park, T., Pauls, D. L., Posthuma, D., Revilla-Monsalve, C., Riba, L., Ripke, S., Rodríguez-Guillén, R., Rodríguez-Torres, M., Sandor, P., Seielstad, M., Sladek, R., Soberón, X., Spector, T. D., Tai, S. E., Teslovich, T. M., Walford, G., Wilkens, L. R. & Williams, A. L., 17 Aug 2016, In: Nature. 536, 7616, p. 285-291 7 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    7176 Scopus citations
  • Insight into rheumatological cause and effect through the use of Mendelian randomization

    Robinson, P. C., Choi, H. K., Do, R. & Merriman, T. R., 1 Aug 2016, In: Nature reviews. Rheumatology. 12, 8, p. 486-493 8 p.

    Research output: Contribution to journalReview articlepeer-review

    Open Access
    41 Scopus citations
  • No Association of Coronary Artery Disease with X-Chromosomal Variants in Comprehensive International Meta-Analysis

    Loley, C., Alver, M., Assimes, T. L., Bjonnes, A., Goel, A., Gustafsson, S., Hernesniemi, J., Hopewell, J. C., Kanoni, S., Kleber, M. E., Lau, K. W., Lu, Y., Lyytikaïnen, L. P., Nelson, C. P., Nikpay, M., Qu, L., Salfati, E., Scholz, M., Tukiainen, T., Willenborg, C., & 58 othersWon, H. H., Zeng, L., Zhang, W., Anand, S. S., Beutner, F., Bottinger, E. P., Clarke, R., Dedoussis, G., Do, R., Esko, T., Eskola, M., Farrall, M., Gauguier, D., Giedraitis, V., Granger, C. B., Hall, A. S., Hamsten, A., Hazen, S. L., Huang, J., Kähönen, M., Kyriakou, T., Laaksonen, R., Lind, L., Lindgren, C., Magnusson, P. K. E., Marouli, E., Mihailov, E., Morris, A. P., Nikus, K., Pedersen, N., Rallidis, L., Salomaa, V., Shah, S. H., Stewart, A. F. R., Thompson, J. R., Zalloua, P. A., Chambers, J. C., Collins, R., Ingelsson, E., Iribarren, C., Karhunen, P. J., Kooner, J. S., Lehtimäki, T., Loos, R. J. F., März, W., McPherson, R., Metspalu, A., Reilly, M. P., Ripatti, S., Sanghera, D. K., Thiery, J., Watkins, H., Deloukas, P., Kathiresan, S., Samani, N. J., Schunkert, H., Erdmann, J. & König, I. R., 12 Oct 2016, In: Scientific Reports. 6, 35278.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    25 Scopus citations
  • Systematic functional dissection of common genetic variation affecting red blood cell traits

    Ulirsch, J. C., Nandakumar, S. K., Wang, L., Giani, F. C., Zhang, X., Rogov, P., Melnikov, A., McDonel, P., Do, R., Mikkelsen, T. S. & Sankaran, V. G., 2 Jun 2016, In: Cell. 165, 6, p. 1530-1545 16 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    209 Scopus citations
  • What can we learn about lipoprotein metabolism and coronary heart disease from studying rare variants?

    Jeff, J. M., Peloso, G. M. & Do, R., 1 Apr 2016, In: Current Opinion in Lipidology. 27, 2, p. 99-104 6 p.

    Research output: Contribution to journalReview articlepeer-review

    Open Access
    3 Scopus citations
  • Whole-exome sequencing of over 4100 men of African ancestry and prostate cancer risk

    The ELLIPSE/GAME-ON Consortium & The African Ancestry Prostate Cancer GWAS Consortium (AAPC), 15 Jan 2016, In: Human Molecular Genetics. 25, 2, p. 371-381 11 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    22 Scopus citations
  • 2015

    Cardiometabolic effects of genetic upregulation of the interleukin 1 receptor antagonist: A Mendelian randomisation analysis

    Freitag, D., Butterworth, A. S., Willeit, P., Howson, J. M. M., Burgess, S., Kaptoge, S., Young, R., Ho, W. K., Wood, A. M., Sweeting, M., Spackman, S., Staley, J. R., Ramond, A., Harshfield, E., Nielsen, S. F., Grande, P., Lange, L. A., Bown, M. J., Jones, G. T., Scott, R. A., & 133 othersBevan, S., Porcu, E., Thorleifsson, G., Zeng, L., Kessler, T., Nikpay, M., Do, R., Zhang, W., Hopewell, J. C., Kleber, M., Delgado, G. E., Nelson, C. P., Goel, A., Bis, J. C., Dehghan, A., Ligthart, S., Smith, A. V., Qu, L., van 't Hof, F. N. G., de Bakker, P. I. W., Baas, A. F., van Rij, A., Tromp, G., Kuivaniemi, H., Ritchie, M. D., Verma, S. S., Crawford, D. C., Malinowski, J., de Andrade, M., Kullo, I. J., Peissig, P. L., McCarty, C. A., Böttinger, E. P., Gottesman, O., Crosslin, D. R., Carrell, D. S., Rasmussen-Torvik, L. J., Pacheco, J. A., Huang, J., Timpson, N. J., Kettunen, J., Ala-Korpela, M., Mitchell, G. F., Parsa, A., Wilkinson, I. B., Gorski, M., Li, Y., Franceschini, N., Keller, M. F., Ganesh, S. K., Langefeld, C. D., Bruijn, L., Brown, M. A., Evans, D. M., Baltic, S., Ferreira, M. A., Baurecht, H., Weidinger, S., Franke, A., Lubitz, S. A., Müller-Nurasyid, M., Felix, J. F., Smith, N. L., Sudman, M., Thompson, S. D., Zeggini, E., Panoutsopoulou, K., Nalls, M. A., Singleton, A., Polychronakos, C., Bradfield, J. P., Hakonarson, H., Easton, D. F., Thompson, D., Tomlinson, I. P., Dunlop, M., Hemminki, K., Morgan, G., Eisen, T., Goldschmidt, H., Allan, J. M., Henrion, M., Whiffin, N., Wang, Y., Chubb, D., Iles, M. M., Bishop, D. T., Law, M. H., Hayward, N. K., Luo, Y., Nejentsev, S., Barbalic, M., Crossman, D., Sanna, S., Soranzo, N., Markus, H. S., Wareham, N. J., Rader, D. J., Reilly, M., Assimes, T., Harris, T. B., Hofman, A., Franco, O. H., Gudnason, V., Tracy, R., Psaty, B. M., Farrall, M., Watkins, H., Hall, A. S., Samani, N. J., März, W., Clarke, R., Collins, R., Kooner, J. S., Chambers, J. C., Kathiresan, S., McPherson, R., Erdmann, J., Kastrati, A., Schunkert, H., Stefánsson, K., Thorsteinsdottir, U., Walston, J. D., Tybjærg-Hansen, A., Alam, D. S., Al Shafi Majumder, A., Angelantonio, E. D., Chowdhury, R., Nordestgaard, B. G., Saleheen, D., Thompson, S. G., Danesh, J. & Houlston, R. S., 1 Apr 2015, In: The Lancet Diabetes and Endocrinology. 3, 4, p. 243-253 11 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    108 Scopus citations
  • Disproportionate Contributions of Select Genomic Compartments and Cell Types to Genetic Risk for Coronary Artery Disease

    Won, H. H., Natarajan, P., Dobbyn, A., Jordan, D. M., Roussos, P., Lage, K., Raychaudhuri, S., Stahl, E. & Do, R., 2015, In: PLoS Genetics. 11, 10, e1005622.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    58 Scopus citations
  • Dominance of Deleterious Alleles Controls the Response to a Population Bottleneck

    Balick, D. J., Do, R., Cassa, C. A., Reich, D. & Sunyaev, S. R., 1 Aug 2015, In: PLoS Genetics. 11, 8, e1005436.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    53 Scopus citations
  • Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

    Do, R., Stitziel, N. O., Won, H. H., Jørgensen, A. B., Duga, S., Merlini, P. A., Kiezun, A., Farrall, M., Goel, A., Zuk, O., Guella, I., Asselta, R., Lange, L. A., Peloso, G. M., Auer, P. L., Girelli, D., Martinelli, N., Farlow, D. N., DePristo, M. A., Roberts, R., & 73 othersStewart, A. F. R., Saleheen, D., Danesh, J., Epstein, S. E., Sivapalaratnam, S., Hovingh, G. K., Kastelein, J. J., Samani, N. J., Schunkert, H., Erdmann, J., Shah, S. H., Kraus, W. E., Davies, R., Nikpay, M., Johansen, C. T., Wang, J., Hegele, R. A., Hechter, E., Marz, W., Kleber, M. E., Huang, J., Johnson, A. D., Li, M., Burke, G. L., Gross, M., Liu, Y., Assimes, T. L., Heiss, G., Lange, E. M., Folsom, A. R., Taylor, H. A., Olivieri, O., Hamsten, A., Clarke, R., Reilly, D. F., Yin, W., Rivas, M. A., Donnelly, P., Rossouw, J. E., Psaty, B. M., Herrington, D. M., Wilson, J. G., Rich, S. S., Bamshad, M. J., Tracy, R. P., Cupples, L. A., Rader, D. J., Reilly, M. P., Spertus, J. A., Cresci, S., Hartiala, J., Tang, W. H. W., Hazen, S. L., Allayee, H., Reiner, A. P., Carlson, C. S., Kooperberg, C., Jackson, R. D., Boerwinkle, E., Lander, E. S., Schwartz, S. M., Siscovick, D. S., McPherson, R., Tybjaerg-Hansen, A., Abecasis, G. R., Watkins, H., Nickerson, D. A., Ardissino, D., Sunyaev, S. R., O'Donnell, C. J., Altshuler, D., Gabriel, S. & Kathiresan, S., 5 Feb 2015, In: Nature. 518, 7537, p. 102-106 5 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    537 Scopus citations
  • Genetic studies of body mass index yield new insights for obesity biology

    Lifelines Cohort Study & ADIPOGen Consortium; AGEN-BMI Working Group; CARDIOGRAMplusC4D Consortium; CKDGen Consortium; GLGC; ICBP; MAGIC Investigators; MuTHER Consortium; MIGen Consortium; PAGE Consortium; ReproGen Consortium; GENIE Consortium; International Endogene Consortium, 12 Feb 2015, In: Nature. 518, 7538, p. 197-206 10 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    3093 Scopus citations
  • Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

    Schizophrenia Working Group of the Psychiatric Genomics Consortium, Psychosis Endophenotypes International Consortium, Wellcome Trust Case Control Consortium, Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE) study & Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), 1 Jan 2015, In: American Journal of Human Genetics. 97, 4, p. 576-592 17 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    790 Scopus citations
  • Myocardial Infarction-Associated SNP at 6p24 Interferes with MEF2 Binding and Associates with PHACTR1 Expression Levels in Human Coronary Arteries

    Beaudoin, M., Gupta, R. M., Won, H. H., Lo, K. S., Do, R., Henderson, C. A., Lavoie-St-Amour, C., Langlois, S., Rivas, D., Lehoux, S., Kathiresan, S., Tardif, J. C., Musunuru, K. & Lettre, G., 27 Jun 2015, In: Arteriosclerosis, Thrombosis, and Vascular Biology. 35, 6, p. 1472-1479 8 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    69 Scopus citations
  • New genetic loci link adipose and insulin biology to body fat distribution

    ADIPOGen Consortium; CARDIOGRAMplusC4D Consortium; CKDGen Consortium; GEFOS Consortium; GENIE Consortium; GLGC; ICBP; International Endogene Consortium; LifeLines Cohort Study; MAGIC Investigators; MuTHER Consortium; PAGE Consortium; ReproGen Consortium, 12 Feb 2015, In: Nature. 518, 7538, p. 187-196 10 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    1113 Scopus citations
  • No evidence that selection has been less effective at removing deleterious mutations in Europeans than in Africans

    Do, R., Balick, D., Li, H., Adzhubei, I., Sunyaev, S. & Reich, D., 1 Jan 2015, In: Nature Genetics. 47, 2, p. 126-131 6 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    123 Scopus citations