• 6262 Citations
1983 …2018
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Fingerprint Fingerprint is based on mining the text of the experts' scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 18 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 2018

  • 6262 Citations
  • 202 Article
  • 3 Chapter
  • 2 Review article
1 Citations

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

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

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss

Bademci, G., Abad, C., Incesulu, A., Rad, A., Alper, O., Kolb, S. M., Cengiz, F. B., Diaz-Horta, O., Silan, F., Mihci, E., Ocak, E., Najafi, M., Maroofian, R., Yilmaz, E., Nur, B. G., Duman, D., Guo, S., Sant, D. W., Wang, G., Monje, P. V. & 5 othersHaaf, T., Blanton, S. H., Vona, B., Walz, K. & Tekin, M., Jul 1 2018, In : Human Genetics. 137, 6-7, p. 479-486 8 p.

Research output: Contribution to journalArticle

Sensorineural Hearing Loss
Hearing Loss
Outer Auditory Hair Cells
Genes
Jews