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Collaborations and top research areas from the last five years

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  • A genetic-association study of circulating coagulation factor VIII and von Willebrand factor levels

    Trans-Omics for Precision Medicine (TOPMed) program & INVENT Consortium, 2024, (Accepted/In press) In: Blood.

    Research output: Contribution to journalArticlepeer-review

  • A genomic mutational constraint map using variation in 76,156 human genomes

    Genome Aggregation Database Consortium, 4 Jan 2024, In: Nature. 625, 7993, p. 92-100 9 p.

    Research output: Contribution to journalArticlepeer-review

    24 Scopus citations
  • Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes (Nature, (2024), 625, 7993, (92-100), 10.1038/s41586-023-06045-0)

    Genome Aggregation Database Consortium, 1 Feb 2024, In: Nature. 626, 7997, p. E1

    Research output: Contribution to journalComment/debate

    Open Access
  • Frequency and Clinical Implications of Referrals to Heart Failure Among Patients with Peripartum Cardiomyopathy

    Qureshi, N., Kontorovich, A., Veledar, E., Tlachi, P., Feltovich, H., Mancini, D. M., Barghash, M., Stone, J., Bianco, A., Shaw, L. J. & Lala, A., 2024, (Accepted/In press) In: Journal of Cardiac Failure.

    Research output: Contribution to journalArticlepeer-review

  • Inferring compound heterozygosity from large-scale exome sequencing data

    Guo, M. H., Francioli, L. C., Stenton, S. L., Goodrich, J. K., Watts, N. A., Singer-Berk, M., Groopman, E., Darnowsky, P. W., Solomonson, M., Baxter, S., Abreu, M., Salinas, C. A. A., Ahmad, T., Albert, C. M., Alföldi, J., Ardissino, D., Armean, I. M., Atzmon, G., Banks, E., Barnard, J., & 212 othersBaxter, S. M., Beaugerie, L., Benjamin, E. J., Benjamin, D., Bergelson, L., Boehnke, M., Bonnycastle, L. L., Bottinger, E. P., Bowden, D. W., Bown, M. J., Brant, S., Calvo, S. E., Campos, H., Chambers, J. C., Chan, J. C., Chao, K. R., Chapman, S., Chasman, D., Chen, S., Chisholm, R. L., Cho, J., Chowdhury, R., Chung, M. K., Chung, W. K., Cibulskis, K., Cohen, B., Collins, R. L., Connolly, K. M., Correa, A., Covarrubias, M., Cummings, B., Dabelea, D., Danesh, J., Darbar, D., Denny, J., Donnelly, S., Duggirala, R., Dupuis, J., Ellinor, P. T., Elosua, R., Emery, J., England, E., Erdmann, J., Esko, T., Evangelista, E., Farjoun, Y., Fatkin, D., Ferriera, S., Florez, J., Franke, A., Färkkilä, M., Gabriel, S., Garimella, K., Gauthier, L. D., Gentry, J., Getz, G., Glahn, D. C., Glaser, B., Glatt, S. J., Goldstein, D., Gonzalez, C., Groop, L., Gudmundsson, S., Gupta, N., Haessly, A., Haiman, C., Hall, I., Hanis, C., Harms, M., Hiltunen, M., Holi, M. M., Hultman, C. M., Jalas, C., Jeandet, T., Kallela, M., Kaplan, D., Kaprio, J., Kathiresan, S., Kenny, E., Kim, B. J., Kim, Y. J., Kirov, G., Koenig, Z., Kooner, J., Koskinen, S., Krumholz, H. M., Kugathasan, S., Kwak, S. H., Laakso, M., Lake, N., Langsford, T., Laricchia, K. M., Lehtimäki, T., Lek, M., Lipscomb, E., Llanwarne, C., Loos, R. J. F., Lubitz, S. A., Luna, T. T., Ma, R. C. W., Marcus, G. M., Marrugat, J., Martin, A. R., Mattila, K. M., McCarroll, S., McCarthy, M. I., McCauley, J., McGovern, D., McPherson, R., Meigs, J. B., Melander, O., Metspalu, A., Meyers, D., Minikel, E. V., Mitchell, B. D., Mootha, V. K., Munshi, R., Naheed, A., Nazarian, S., Nilsson, P. M., Novod, S., O’Donnell-Luria, A. H., O’Donovan, M. C., Okada, Y., Ongur, D., Orozco, L., Owen, M. J., Palmer, C., Palmer, N. D., Palotie, A., Park, K. S., Pato, C., Petrillo, N., Phu, W., Poterba, T., Pulver, A. E., Rader, D., Rahman, N., Reiner, A., Remes, A. M., Rhodes, D., Rich, S., Rioux, J. D., Ripatti, S., Roazen, D., Roden, D. M., Rotter, J. I., Ruano-Rubio, V., Sahakian, N., Saleheen, D., Salomaa, V., Saltzman, A., Samani, N. J., Scharf, J., Schleicher, M., Schunkert, H., Schönherr, S., Seaby, E., Seed, C., Shah, S. H., Shand, M., Shoemaker, M. B., Shyong, T., Silverman, E. K., Sklar, P., Smith, J. G., Smith, J. T., Soininen, H., Sokol, H., Son, R. G., Soto, J., Spector, T., Stevens, C., Stitziel, N., Sullivan, P. F., Suvisaari, J., Tai, E. S., Talkowski, M. E., Tarasova, Y., Taylor, K. D., Teo, Y. Y., Tibbetts, K., Tolonen, C., Tsuang, M., Tuomi, T., Turner, D., Tusie-Luna, T., Vartiainen, E., Vawter, M., Vittal, C., Wade, G., Wang, A., Wang, Q., Ware, J. S., Watkins, H., Weersma, R. K., Weisburd, B., Wessman, M., Whiffin, N., Wilson, M. W., Wilson, J. G., Xavier, R. J., Yohannes, M. T., Tiao, G., Neale, B. M., Hirschhorn, J. N., Rehm, H. L., Daly, M. J., O’Donnell-Luria, A., Karczewski, K. J., MacArthur, D. G. & Samocha, K. E., Jan 2024, In: Nature Genetics. 56, 1, p. 152-161 10 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    1 Scopus citations
  • Physician services and costs after disclosure of diagnostic sequencing results in the NYCKidSeq program

    Berkalieva, A., Kelly, N. R., Fisher, A., Hohmann, S. F., Sebastin, M., Di Biase, M., Bonini, K. E., Marathe, P., Odgis, J. A., Suckiel, S. A., Ramos, M. A., Rhodes, R., Abul-Husn, N. S., Greally, J. M., Horowitz, C. R., Wasserstein, M. P., Kenny, E. E., Gelb, B. D. & Ferket, B. S., Jan 2024, In: Genetics in Medicine. 26, 1, 101011.

    Research output: Contribution to journalArticlepeer-review

  • Precision Phenotyping in Arrhythmogenic Cardiomyopathy: What's in a Name?

    Kontorovich, A. R., 27 Feb 2024, In: Journal of the American College of Cardiology. 83, 8, p. 808-810 3 p.

    Research output: Contribution to journalEditorial

  • Principles and methods for transferring polygenic risk scores across global populations

    Kachuri, L., Chatterjee, N., Hirbo, J., Schaid, D. J., Martin, I., Kullo, I. J., Kenny, E. E., Pasaniuc, B., Auer, P. L., Conomos, M. P., Conti, D. V., Ding, Y., Wang, Y., Zhang, H., Zhang, Y., Witte, J. S. & Ge, T., Jan 2024, In: Nature Reviews Genetics. 25, 1, p. 8-25 18 p.

    Research output: Contribution to journalReview articlepeer-review

    12 Scopus citations
  • Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations

    Lennon, N. J., Kottyan, L. C., Kachulis, C., Abul-Husn, N. S., Arias, J., Belbin, G., Below, J. E., Berndt, S. I., Chung, W. K., Cimino, J. J., Clayton, E. W., Connolly, J. J., Crosslin, D. R., Dikilitas, O., Velez Edwards, D. R., Feng, Q. P., Fisher, M., Freimuth, R. R., Ge, T., Glessner, J. T., & 60 othersGordon, A. S., Patterson, C., Hakonarson, H., Harden, M., Harr, M., Hirschhorn, J. N., Hoggart, C., Hsu, L., Irvin, M. R., Jarvik, G. P., Karlson, E. W., Khan, A., Khera, A., Kiryluk, K., Kullo, I., Larkin, K., Limdi, N., Linder, J. E., Loos, R. J. F., Luo, Y., Malolepsza, E., Manolio, T. A., Martin, L. J., McCarthy, L., McNally, E. M., Meigs, J. B., Mersha, T. B., Mosley, J. D., Musick, A., Namjou, B., Pai, N., Pesce, L. L., Peters, U., Peterson, J. F., Prows, C. A., Puckelwartz, M. J., Rehm, H. L., Roden, D. M., Rosenthal, E. A., Rowley, R., Sawicki, K. T., Schaid, D. J., Smit, R. A. J., Smith, J. L., Smoller, J. W., Thomas, M., Tiwari, H., Toledo, D. M., Vaitinadin, N. S., Veenstra, D., Walunas, T. L., Wang, Z., Wei, W. Q., Weng, C., Wiesner, G. L., Yin, X., Kenny, E. E., Berndt, S., Hirschhorn, J. & Loos, R., Feb 2024, In: Nature Medicine. 30, 2, p. 480-487 8 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    1 Scopus citations
  • Session Introduction: Overcoming health disparities in precision medicine

    De La Vega, F. M., Barnes, K. C., Fox, K., Ioannidis, A., Kenny, E., Mathias, R. A. & Pasaniuc, B., 2024, In: Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing. 29, p. 322-326 5 p.

    Research output: Contribution to journalArticlepeer-review

  • Chimeric CRISPR-CasX enzymes and guide RNAs for improved genome editing activity

    Tsuchida, C. A., Zhang, S., Doost, M. S., Zhao, Y., Wang, J., O'Brien, E., Fang, H., Li, C. P., Li, D., Hai, Z. Y., Chuck, J., Brötzmann, J., Vartoumian, A., Burstein, D., Chen, X. W., Nogales, E., Doudna, J. A. & Liu, J. J. G., 17 Mar 2022, In: Molecular Cell. 82, 6, p. 1199-1209.e6

    Research output: Contribution to journalArticlepeer-review

    Open Access
    27 Scopus citations