Calculated based on number of publications stored in Pure and citations from Scopus
1992 …2024

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PROFESSOR | Medicine, Nephrology PROFESSOR | Pharmacological Sciences

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  • A clustering approach to improve our understanding of the genetic and phenotypic complexity of chronic kidney disease

    Eoli, A., Ibing, S., Schurmann, C., Nadkarni, G. N., Heyne, H. O. & Böttinger, E., Dec 2024, In: Scientific Reports. 14, 1, 9642.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • 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

    39 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
  • Genetic sex validation for sample tracking in next-generation sequencing clinical testing

    the eMERGE III consortium, Dec 2024, In: BMC Research Notes. 17, 1, 62.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • 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