• 6464 Citations
1983 …2019
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  • 13 Similar Profiles
Genes Medicine & Life Sciences
Mutation Medicine & Life Sciences
Deafness Medicine & Life Sciences
Cleft Palate Medicine & Life Sciences
Retinitis Pigmentosa Medicine & Life Sciences
Single Nucleotide Polymorphism Medicine & Life Sciences
Cleft Lip Medicine & Life Sciences
Hearing Loss Medicine & Life Sciences

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Research Output 1983 2019

  • 6464 Citations
  • 209 Article
  • 3 Chapter
  • 2 Review article

Association of IFT88 gene variants with nonsyndromic cleft lip with or without cleft palate

Barba, A., Urbina, C., Maili, L., Greives, M. R., Blackwell, S. J., Mulliken, J. B., Chiquet, B., Blanton, S. H., Hecht, J. T. & Letra, A., Jan 1 2019, In : Birth Defects Research.

Research output: Contribution to journalArticle

Cleft Lip
Cleft Palate
Genes
Association reactions
Hispanic Americans

Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss

Li, C., Bademci, G., Subasioglu, A., Diaz-Horta, O., Zhu, Y., Liu, J., Mitchell, T. G., Abad, C., Seyhan, S., Duman, D., Cengiz, F. B., Tokgoz-Yilmaz, S., Blanton, S. H., Farooq, A., Walz, K., Zhai, R. G. & Tekin, M., Jan 22 2019, In : Proceedings of the National Academy of Sciences of the United States of America. 116, 4, p. 1347-1352 6 p.

Research output: Contribution to journalArticle

GRB2 Adaptor Protein
Sensorineural Hearing Loss
Phosphotransferases
Proteins
Auditory Hair Cells

FOXF2 is required for cochlear development in humans and mice

Bademci, G., Abad, C., Incesulu, A., Elian, F., Reyahi, A., Diaz-Horta, O., Cengiz, F. B., Sineni, C. J., Seyhan, S., Atli, E. I., Basmak, H., Demir, S., Nik, A. M., Footz, T., Guo, S., Duman, D., Fitoz, S., Gurkan, H., Blanton, S. H., Walter, M. A. & 3 othersCarlsson, P., Walz, K. & Tekin, M., Apr 15 2019, In : Human molecular genetics. 28, 8, p. 1286-1297 12 p.

Research output: Contribution to journalArticle

Cochlea
Human Development
Sensorineural Hearing Loss
Knockout Mice
Cell Polarity

Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting

Chauhan, G., Adams, H. H. H., Satizabal, C. L., Bis, J. C., Teumer, A., Sargurupremraj, M., Hofer, E., Trompet, S., Hilal, S., Smith, A. V., Jian, X., Malik, R., Traylor, M., Pulit, S. L., Amouyel, P., Mazoyer, B., Zhu, Y. C., Kaffashian, S., Schilling, S., Beecham, G. W. & 130 othersMontine, T. J., Schellenberg, G. D., Kjartansson, O., Guonason, V., Knopman, D. S., Griswold, M. E., Windham, B. G., Gottesman, R. F., Mosley, T. H., Schmidt, R., Saba, Y., Schmidt, H., Takeuchi, F., Yamaguchi, S., Nabika, T., Kato, N., Rajan, K. B., Aggarwal, N. T., De Jager, P. L., Evans, D. A., Psaty, B. M., Rotter, J. I., Rice, K., Lopez, O. L., Liao, J., Chen, C., Cheng, C. Y., Wong, T. Y., Ikram, M. K., Van Der Lee, J. S., Amin, N., Chouraki, V., DeStefano, A. L., Aparicio, H. J., Romero, J. R., Maillard, P., DeCarli, C., Wardlaw, J. M., Del Valdes Hernandez, M. C., Luciano, M., Liewald, D., Deary, I. J., Starr, J. M., Bastin, M. E., Maniega, S. M., Slagboom, P. E., Beekman, M., Deelen, J., Uh, H. W., Lemmens, R., Brodaty, H., Wright, M. J., Ames, D., Boncoraglio, G. B., Hopewell, J. C., Beecham, A. H., Blanton, S. H., Wright, C. B., Sacco, R. L., Wen, W., Thalamuthu, A., Armstrong, N. J., Chong, E., Schofield, P. R., Kwok, J. B., Van der Grond, J., Stott, D. J., Ford, I., Jukema, J. W., Vernooij, M. W., Hofman, A., Uitterlinden, A. G., Van der Lugt, A., Wittfeld, K., Grabe, H. J., Hosten, N., Von Sarnowski, B., Volker, U., Levi, C., Jimenez-Conde, J., Sharma, P., Sudlow, C. L. M., Rosand, J., Woo, D., Cole, J. W., Meschia, J. F., Slowik, A., Thijs, V., Lindgren, A., Melander, O., Grewal, R. P., Rundek, T., Rexrode, K., Rothwell, P. M., Arnett, D. K., Jern, C., Johnson, J. A., Benavente, O. R., Wasssertheil-Smoller, S., Lee, J. M., Wong, Q., Mitchell, B. D., Rich, S. S., McArdle, P. F., Geerlings, M. I., Van der Graaf, Y., De Bakker, P. I. W., Asselbergs, F. W., Srikanth, V., Thomson, R., McWhirter, R., Moran, C., Callisaya, M., Phan, T., Rutten-Jacobs, L. C. A., Bevan, S., Tzourio, C., Mather, K. A., Sachdev, P. S., Van Duijn, C. M., Worrall, B. B., Dichgans, M., Kittner, S. J., Markus, H. S., Ikram, M. A., Fornage, M., Launer, L. J., Seshadri, S., Longstreth, W. T. & Debette, S., Jan 29 2019, In : Neurology. 92, 5, p. E486-E503

Research output: Contribution to journalArticle

Open Access
Life Style
Brain
Population
Genome-Wide Association Study
Blood Pressure

Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies

Morris, A. P., Le, T. H., Wu, H., Akbarov, A., van der Most, P. J., Hemani, G., Smith, G. D., Mahajan, A., Gaulton, K. J., Nadkarni, G. N., Valladares-Salgado, A., Wacher-Rodarte, N., Mychaleckyj, J. C., Dueker, N. D., Guo, X., Hai, Y., Haessler, J., Kamatani, Y., Stilp, A. M., Zhu, G. & 52 othersCook, J. P., Ärnlöv, J., Blanton, S. H., de Borst, M. H., Bottinger, E. P., Buchanan, T. A., Cechova, S., Charchar, F. J., Chu, P. L., Damman, J., Eales, J., Gharavi, A. G., Giedraitis, V., Heath, A. C., Ipp, E., Kiryluk, K., Kramer, H. J., Kubo, M., Larsson, A., Lindgren, C. M., Lu, Y., Madden, P. A. F., Montgomery, G. W., Papanicolaou, G. J., Raffel, L. J., Sacco, R. L., Sanchez, E., Stark, H., Sundstrom, J., Taylor, K. D., Xiang, A. H., Zivkovic, A., Lind, L., Ingelsson, E., Martin, N. G., Whitfield, J. B., Cai, J., Laurie, C. C., Okada, Y., Matsuda, K., Kooperberg, C., Chen, Y. D. I., Rundek, T., Rich, S. S., Loos, R. J. F., Parra, E. J., Cruz, M., Rotter, J. I., Snieder, H., Tomaszewski, M., Humphreys, B. D. & Franceschini, N., Dec 1 2019, In : Nature communications. 10, 1, 29.

Research output: Contribution to journalArticle

Open Access
kidney diseases
Kidney Diseases
kidneys
Glomerular Filtration Rate
genes