MustafaTekinMD

Medical Genetics • Miami, FL

Clinical Genetics, Clinical Molecular Genetics, Medical Biochemical Genetics

Professor and Chair of Human Genetics, University of Miami Miller School of Medicine

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Office
1501 NW 10th Ave BRB-610
Miami, FL 33136
Phone+1 305-243-2381

Fax+1 305-243-3919

Education & Training

Virginia Commonwealth University Health SystemResidency, Medical Genetics and Genomics, 1998 - 2000
Ankara University FOMClass of 1992

Certifications & Licensure

FL State Medical License 2008 - 2027
VA State Medical License 1998 - 2012
American Board of Medical Genetics and Genomics Medical Biochemical Genetics
American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
American Board of Medical Genetics and Genomics Clinical Molecular Genetics and Genomics
American Board of Medical Genetics and Genomics Laboratory Genetics and Genomics

Awards, Honors, & Recognition

Elected Member The American Society for Clinical Investigation, 2011

Publications & Presentations

PubMed

Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study.
Queenie K-G Tan, Allyn McConkie-Rosell, Rachel Mahoney, Rebecca C Spillmann, Kelly Schoch
American Journal of Medical Genetics. Part A. 2025-04-01
De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms.
Ali H Bereshneh, Jonathan C Andrews, Daniel F Eberl, Guney Bademci, Nicholas A Borja
American Journal of Human Genetics. 2025-03-11
Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network.
Nicholas A Borja, Rory J Tinker, Stephanie A Bivona, Carson A Smith, Theodore Krijnse Locker
American Journal of Medical Genetics. Part A. 2025-02-01

Press Mentions

The Genetic Underpinnings of an Extremely Rare DiseaseFebruary 28th, 2025
Do You Have Cancer Family History? Proposed Medicare Bill Seeks to Expand Genetic TestingMarch 15th, 2023
UM Obtains $3 Million Donation for Geleophysic Dysplasia ResearchMarch 9th, 2021
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Grant Support

Exploring Minorities: the Undiagnosed Diseases Network Clinical Site of MiamiUNIVERSITY OF MIAMI SCHOOL OF MEDICINE2018–2028
Exploring Minorities: the Undiagnosed Diseases Network Clinical Site of MiamiUNIVERSITY OF MIAMI SCHOOL OF MEDICINE2018–2028
A Collaborative Search for New Genes for Non-Syndromic DeafnessUNIVERSITY OF MIAMI SCHOOL OF MEDICINE2010–2026