Mustafa Tekin

University of Miami — United States

Neuroscience · Life Sciences

59h-index12.8kcitations434works3.02yr avg
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Research Topics

Hearing, Cochlea, Tinnitus, Genetics(104), Genomics and Rare Diseases(52), Vestibular and auditory disorders(43), Genetics and Neurodevelopmental Disorders(32), Ear Surgery and Otitis Media(31)

Publications396 total

Losartan shows limited benefit in preclinical models of Geleophysic dysplasia
2025Open Access
Glucocorticoid treatment rescues early lethality in a mouse model of geleophysic dysplasia
Communications Biology·2025Open Access
A Novel Missense Variant in <scp> <i>LMX1A</i> </scp> Leads to Autosomal Dominant Nonsyndromic Hearing Loss
American Journal of Medical Genetics Part A·2025Open Access
Carboxypeptidase D deficiency causes hearing loss amenable to treatment
Journal of Clinical Investigation·2025Open Access
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
The American Journal of Human Genetics·2025· 7 citedOpen Access
A clinical and genotype-phenotype analysis of MACF1 variants
The American Journal of Human Genetics·2025· 1 citedOpen Access
Author Correction: Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48
Nature Genetics·2025Open Access
Dysregulation of cell migration by matrix metalloproteinases in geleophysic dysplasia
Scientific Reports·2025· 4 citedOpen Access
Dysregulation of cell migration by matrix metalloproteinases in geleophysic dysplasia
2025Open Access
Human organoids for rapid validation of gene variants linked to cochlear malformations
Human Genetics·2025· 2 citedOpen Access
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
2025· 7 citedOpen Access
O24: Heterozygous de novo variants in CDKL1 and CDKL2 cause neuroregressive phenotypes in Human and Drosophila and are dominant negative alleles
Genetics in Medicine Open·2025Open Access
P265: Exploring ophthalmological diagnoses in the Undiagnosed Diseases Network: Insights and implications
Genetics in Medicine Open·2025Open Access
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study
American Journal of Medical Genetics Part A·2024Open Access
Can trauma scores predict the length of hospital stay of patients with fractures after earthquake-related blunt injury?
Injury·2024Open Access
Identifying DNA Variants in a Turkish Cohort with Inner Ear Anomalies
Ear Nose & Throat Journal·2024· 1 citedOpen Access
Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network
American Journal of Medical Genetics Part A·2024· 7 citedOpen Access
The GENESIS database and tools: A decade of discovery in Mendelian genomics
Experimental Neurology·2024· 4 cited
Human Organoids for Rapid Validation of Gene Variants Linked to Cochlear Malformations
2024Open Access
Intra-articular administration of extra-virgin olive oil in degenerative osteoarthritis
Journal of Orthopaedic Surgery and Research·2024Open Access
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Frequent Co-authors

Duygu Duman(14), Susan H. Blanton(10), Joseph Foster(10), Aslı Sırmacı(9), Filiz Başak Cengiz(9), Oscar Diaz‐Horta(8), Güney Bademci(7), Nejat Akar(7), Suna Tokgöz-Yılmaz(6), Xue Z. Liu(6), Fatoş Yalçınkaya(5), Mary‐Claire King(5), Arti Pandya(5), Tom Walsh(4), Armağan İncesulu(4), Nejat Mahdieh(4), Michail Spiliopoulos(4), Stephan Züchner(4), Katherina Walz(4), M’hamed Grati(4)