• 6349 Citations
1983 …2019
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  • 15 Similar Profiles
Genes Medicine & Life Sciences
Mutation Medicine & Life Sciences
Deafness Medicine & Life Sciences
Retinitis Pigmentosa Medicine & Life Sciences
Cleft Palate Medicine & Life Sciences
Single Nucleotide Polymorphism Medicine & Life Sciences
Hearing Loss Medicine & Life Sciences
Cleft Lip Medicine & Life Sciences

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Research Output 1983 2019

  • 6349 Citations
  • 203 Article
  • 3 Chapter
  • 2 Review article

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
1 Citations (Scopus)

A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss

Wang, L., Feng, Y., Yan, D., Qin, L., Grati, M., Mittal, R., Li, T., Sundhari, A. K., Liu, Y., Chapagain, P., Blanton, S. H., Liao, S. & Liu, X. Z., Jun 2 2018, (Accepted/In press) In : Human Genetics. p. 1-10 10 p.

Research output: Contribution to journalArticle

Phosphoric Diester Hydrolases
Exome
Inner Auditory Hair Cells
Genes
Genetic Heterogeneity

BRCA1 and BRCA2 gene variants and nonsyndromic cleft lip/palate

Rodriguez, N., Maili, L., Chiquet, B. T., Blanton, S. H., Hecht, J. T. & Letra, A., Jul 17 2018, In : Birth Defects Research. 110, 12, p. 1043-1048 6 p.

Research output: Contribution to journalArticle

BRCA2 Gene
BRCA1 Gene
Genes
Association reactions
Hispanic Americans
1 Citations (Scopus)

Genetic basis of hearing loss in Spanish, Hispanic and Latino populations

Mittal, R., Patel, A. P., Nguyen, D., Pan, D. R., Jhaveri, V. M., Rudman, J. R., Dharmaraja, A., Yan, D., Feng, Y., Chapagain, P., Lee, D. J., Blanton, S. H. & Liu, X. Z., Mar 20 2018, In : Gene. 647, p. 297-305 9 p.

Research output: Contribution to journalReview article

Hearing Loss
Hispanic Americans
Population
Genes
Genetic Predisposition to Disease

Knockdown of Crispld2 in zebrafish identifies a novel network for nonsyndromic cleft lip with or without cleft palate candidate genes

Chiquet, B. T., Yuan, Q., Swindell, E. C., Maili, L., Plant, R., Dyke, J., Boyer, R., Teichgraeber, J. F., Greives, M. R., Mulliken, J. B., Letra, A., Blanton, S. H. & Hecht, J. T., Jun 13 2018, (Accepted/In press) In : European Journal of Human Genetics. p. 1-10 10 p.

Research output: Contribution to journalArticle

Cleft Lip
Cleft Palate
Zebrafish
Gene Regulatory Networks
Genes