• 5594 Citations
19972022
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Fingerprint Dive into the research topics where Mustafa Tekin is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 13 Similar Profiles
Mutation Medicine & Life Sciences
Deafness Medicine & Life Sciences
Hearing Loss Medicine & Life Sciences
Genes Medicine & Life Sciences
Sensorineural Hearing Loss Medicine & Life Sciences
Exome Medicine & Life Sciences
Familial Mediterranean Fever Medicine & Life Sciences
Inner Ear Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Projects 2010 2022

Rare Diseases
Minority Health
Population
Dominican Republic
Founder Effect
Deafness
Genes
Mutation
Hearing Loss
Turkey
Inner Ear
Exome
Consanguinity
Genetic Association Studies
DNA

Research Output 1997 2019

  • 5594 Citations
  • 197 Article
  • 4 Review article
  • 1 Chapter

A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss

Sineni, C. J., Yildirim-Baylan, M., Guo, S., Camarena, V., Wang, G., Tokgoz-Yilmaz, S., Duman, D., Bademci, G. & Tekin, M., Jan 1 2019, In : Human Genetics.

Research output: Contribution to journalArticle

Sensorineural Hearing Loss
Hearing
Tight Junction Proteins
Tight Junctions
Deafness

A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia

Fan, K. C., Patel, N. A., Yannuzzi, N. A., Prakhunhungsit, S., Negron, C. I., Basora, E., Colin, A. A., Tekin, M. & Berrocal, A., Sep 1 2019, In : American Journal of Ophthalmology Case Reports. 15, 100486.

Research output: Contribution to journalArticle

Open Access
Hypotrichosis
Kartagener Syndrome
Macular Degeneration
Mutation
Vertebrate Photoreceptor Cells
1 Citation (Scopus)

ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs

on behalf of the ClinGen Hearing Loss Clinical Domain Working Group, Jan 1 2019, In : Genetics in Medicine.

Research output: Contribution to journalArticle

Hearing Loss
Genome
Genes
Genetic Testing
Registries

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 others, Carlsson, 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