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Mustafa Tekin

Affiliation : University of Miami · Dr. John T. Macdonald Foundation

• 6Publications (affiliation in the United States)
• 416Total publications
• 12477Citations
• 57h-index

ORCIDOpenAlex

Research profile

Mustafa Tekin has 6 indexed publications (2010–2021). Their work appears mainly in “Human Genetics”, “Genetics in Medicine” and “Human Mutation”. Their most cited article, “Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents” (2016), has been cited 130 times. Their work is co-authored with at least 12 researchers, including institutions in China, United Kingdom, Tunisia.

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Research areas

• Genomics and Rare Diseases
• Hearing, Cochlea, Tinnitus, Genetics
• Congenital Ear and Nasal Anomalies
• Hearing Loss and Rehabilitation
• Genetics and Neurodevelopmental Disorders

Publications (6)

• Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss
  2021 · Genetics in Medicine · cited 44 times
• Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents
  2016 · Human Genetics · cited 130 times
• A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60
  2016 · Human Genetics · cited 40 times
• MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 Isoform
  2016 · Human Mutation · cited 38 times
• Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53
  2015 · Molecular Genetics and Genomics · cited 28 times
• High Frequency of the p.R34X Mutation in the TMC1 Gene Associated with Nonsyndromic Hearing Loss Is Due to Founder Effects
  2010 · Genetic Testing and Molecular Biomarkers · cited 46 times

Publication venues

• Human Genetics × 2
• Genetics in Medicine × 1
• Human Mutation × 1
• Molecular Genetics and Genomics × 1
• Genetic Testing and Molecular Biomarkers × 1

Publications per year

• 20211
• 20163
• 20151
• 20101

Collaborations

Partner institutions : Broad Institute · Harvard University · Mass General Brigham · University of Iowa · Central South University

Co-authors’ countries : China · United Kingdom · Tunisia

Co-authors

• Xue Zhong Liu
• M’hamed Grati
• Denise Lu Shun Yan
• Rahul Mittal
• Qi Ma
• Abhiraami Kannan-Sundhari
• Susan Halloran Blanton
• Güney Bademci
• Richard J. Smith
• Joseph M. Foster
• Filiz Başak Cengiz
• Anne B. Skvorak Giersch

Bibliographic data from OpenAlex (open database).