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  • 18 Similar Profiles
Genes Medicine & Life Sciences
Genome-Wide Association Study Medicine & Life Sciences
Genome Medicine & Life Sciences
Single Nucleotide Polymorphism Medicine & Life Sciences
Meta-Analysis Medicine & Life Sciences
Genotype Medicine & Life Sciences
Alleles Medicine & Life Sciences
Macular Degeneration Medicine & Life Sciences

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Grants 2002 2021

Research Output 2000 2017

2 Citations

Association of rare and common variation in the lipoprotein lipase gene with coronary artery disease

Khera, A. V. , Won, H. H. , Peloso, G. M. , O'Dushlaine, C. , Liu, D. , Stitziel, N. O. , Natarajan, P. , Nomura, A. , Emdin, C. A. , Gupta, N. , Borecki, I. B. , Asselta, R. , Duga, S. , Merlini, P. A. , Correa, A. , Kessler, T. , Wilson, J. G. , Bown, M. J. , Hall, A. S. , Braund, P. S. & 24 others Carey, D. J., Murray, M. F., Kirchner, H. L., Leader, J. B., Lavage, D. R., Manus, J. N., Hartzel, D. N., Samani, N. J., Schunkert, H., Marrugat, J., Elosua, R., McPherson, R., Farrall, M., Watkin, H., Lander, E. S., Rader, D. J., Danesh, J., Ardissino, D., Gabriel, S., Willer, C., Abecasis, G. R., Saleheen, D., Dewey, F. E. & Kathiresan, S. Mar 7 2017 In : JAMA - Journal of the American Medical Association. 317, 9, p. 937-946 10 p.

Research output: Contribution to journalArticle

Lipoprotein Lipase
Coronary Artery Disease
Genes
Mutation
Triglycerides

Characterization of ADME gene variation in 21 populations by exome sequencing

Hovelson, D. H., Xue, Z., Zawistowski, M., Ehm, M. G., Harris, E. C., Stocker, S. L., Gross, A. S., Jang, I. J., Ieiri, I., Lee, J. E., Cardon, L. R., Chissoe, S. L., Abecasis, G. & Nelson, M. R. 2017 In : Pharmacogenetics and Genomics. 27, 3, p. 89-100 12 p.

Research output: Contribution to journalArticle

Exome
Genes
Pharmacogenetics
Gene Frequency
Pharmacokinetics

Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits

Grassmann, F. , Kiel, C. , Zimmermann, M. E. , Gorski, M. , Grassmann, V. , Stark, K. , Heid, I. M. , Weber, B. H. F. , Fritsche, L. G. , Igl, W. , Bailey, J. N. C. , Sengupta, S. , Bragg-Gresham, J. L. , Burdon, K. P. , Hebbring, S. J. , Wen, C. , Kim, I. K. , Cho, D. , Zack, D. , Souied, E. & 146 others Scholl, H. P. N., Bala, E., Lee, K. E., Hunter, D. J., Sardell, R. J., Mitchell, P., Merriam, J. E., Cipriani, V., Hoffman, J. D., Schick, T., Lechanteur, Y. T. E., Guymer, R. H., Johnson, M. P., Jiang, Y., Stanton, C. M., Buitendijk, G. H. S., Zhan, X., Kwong, A. M., Boleda, A., Brooks, M., Gieser, L., Ratnapriya, R., Branham, K. E., Foerster, J. R., Heckenlively, J. R., Othman, M. I., Vote, B. J., Liang, H. H., Souzeau, E., McAllister, I. L., Isaacs, T., Hall, J., Lake, S., Mackey, D. A., Constable, I. J., Craig, J. E., Kitchner, T. E., Yang, Z., Su, Z., Luo, H., Chen, D., Ouyang, H., Flagg, K., Lin, D., Mao, G., Ferreyra, H., von Strachwitz, C. N., Wolf, A., Brandl, C., Rudolph, G., Olden, M., Morrison, M. A., Morgan, D. J., Schu, M., Ahn, J., Silvestri, G., Tsironi, E. E., Park, K. H., Farrer, L. A., Orlin, A., Brucker, A., Li, M., Curcio, C. A., Mohand-Saïd, S., Sahel, J. A., Audo, I., Benchaboune, M., Cree, A. J., Rennie, C. A., Goverdhan, S. V., Grunin, M., Hagbi-Levi, S., Campochiaro, P., Katsanis, N., Holz, F. G., Blond, F., Blanché, H., Deleuze, J. F., Igo, R. P., Truitt, B., Peachey, N. S., Meuer, S. M., Myers, C. E., Moore, E. L., Klein, R., Hauser, M. A., Postel, E. A., Courtenay, M. D., Schwartz, S. G., Kovach, J. L., Scott, W. K., Liew, G., Tan, A. G., Gopinath, B., Merriam, J. C., Smith, R. T., Khan, J. C., Shahid, H., Moore, A. T., McGrath, J. A., Laux, R., Brantley, M. A., Agarwal, A., Ersoy, L., Caramoy, A., Langmann, T., Saksens, N. T. M., de Jong, E. K., Hoyng, C. B., Cain, M. S., Richardson, A. J., Martin, T. M., Blangero, J., Weeks, D. E., Dhillon, B., van Duijn, C. M., Doheny, K. F., Romm, J., Klaver, C. C. W., Hayward, C., Gorin, M. B., Klein, M. L., Baird, P. N., den Hollander, A. I., Fauser, S., Yates, J. R. W., Allikmets, R., Wang, J. J., Schaumberg, D. A., Klein, B. E. K., Hagstrom, S. A., Chowers, I., Lotery, A. J., Léveillard, T., Zhang, K., Brilliant, M. H., Hewitt, A. W., Swaroop, A., Chew, E. Y., Pericak-Vance, M. A., DeAngelis, M., Stambolian, D., Haines, J. L., Iyengar, S. K., Abecasis, G. R. & International AMD Genomics Consortium (IAMDGC) Mar 27 2017 In : Genome Medicine. 9, 1, 29

Research output: Contribution to journalArticle

Genetic Pleiotropy
Macular Degeneration
Autoimmune Diseases
Genome
Lipid Metabolism Disorders

Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population

Shahzad, M. , Yousaf, S. , Waryah, Y. M. , Gul, H. , Kausar, T. , Tariq, N. , Mahmood, U. , Ali, M. , Khan, M. A. , Waryah, A. M. , Shaikh, R. S. , Riazuddin, S. , Ahmed, Z. M. , Bamshad, M. J. , Shendure, J. , Nickerson, D. A. , Abecasis, G. R. , Anderson, P. , Marchani, E. B. , Annable, M. & 46 others Browning, B. L., Buckingham, K. J., Chen, C., Chin, J., Chong, J. X., Cooper, G. M., Davis, C. P., Frazar, C., Harrell, T. M., He, Z., Jain, P., Jarvik, G. P., Jimenez, G., Johanson, E., Jun, G., Kircher, M., Kolar, T., Krauter, S. A., Krumm, N., Leal, S. M., Luksic, D., Marvin, C. T., McGee, S., Patterson, K., Perez, M., Phillips, S. W., Pijoan, J., Poel, C., Ragan, S., Reinier, F., Robertson, P. D., Santos, R. C., Shankar, A., Slattery, K., Shephard, C., Shively, K. M., Siegel, D. L., Smith, J. D., Tabor, H. K., Tackett, M., Wegener, M., Wang, G., Wheeler, M. M., Wright, A., Yi, Q. & University of Washington Center for Mendelian Genomics Mar 7 2017 In : Scientific Reports. 7, 44185

Research output: Contribution to journalArticle

Oculocutaneous Albinism
Alleles
Genes
Exome
Skin Pigmentation

Population- and individual-specific regulatory variation in Sardinia

Pala, M. , Zappala, Z. , Marongiu, M. , Li, X. , Davis, J. R. , Cusano, R. , Crobu, F. , Kukurba, K. R. , Gloudemans, M. J. , Reinier, F. , Berutti, R. , Piras, M. G. , Mulas, A. , Zoledziewska, M. , Marongiu, M. , Sorokin, E. P. , Hess, G. T. , Smith, K. S. , Busonero, F. , Maschio, A. & 14 others Steri, M., Sidore, C., Sanna, S., Fiorillo, E., Bassik, M. C., Sawcer, S. J., Battle, A., Novembre, J., Jones, C., Angius, A., Abecasis, G. R., Schlessinger, D., Cucca, F. & Montgomery, S. B. Apr 10 2017 In : Nature Genetics.

Research output: Contribution to journalArticle

Italy
Genes
Quantitative Trait Loci
Transcriptome
Multiple Sclerosis