Associate Professor, Human Genetics, University of Miami School of Medicine

Medical Genetics

Dr. Mustafa Tekin, MD

Mustafa Tekin works in the field of Medical Genetics. He received 1 awards: "Elected Member". Mustafa Tekin is a published MD as well. He has 20 publications published. The latest was: A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes.

Publications

A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes.
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.
Ankrd11 is a chromatin regulator involved in autism that is essential for neural development.
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.
Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss.
Reply to Teasdale and Collins: N-terminal region of FAM65B bears similarity to the PX-BAR module of SNX33.
Common genes for non-syndromic deafness are uncommon in sub-Saharan Africa: A report from Nigeria.
A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation.
Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy.
Evidence for genotype-phenotype correlation for OTOF mutations.
De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.
Identification of an IGSF3 mutation in a family with congenital nasolacrimal duct obstruction.
Next-generation sequencing in genetic hearing loss.
Mutation of the ATP-gated P2X2 receptor leads to progressive hearing loss and increased susceptibility to noise.
Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.
Mutations in OTOGL, Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing Loss.
GPSM2 mutations in Chudley-McCullough syndrome.
An Amino Acid Deletion inSZT2 in a Family with Non-Syndromic Intellectual Disability.

Schools

Ankara Universitesi Tip Fakultesi
Ankara University School Of Med
Med College Virginia Hospitals

Doctors Specialties

Clinical Genetics
Clinical Molecular Genetics
Medical Biochemical Genetics
Medical Genetics

Accepted Insurances

Awards

Elected Member

Education

Virginia Commonwealth University Health System
Ankara University Faculty of Medicine

Hospital

Nicklaus Children's Hospital
University of Miami Hospital

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