Mustafa Tekin

Summary

Affiliation: University of Miami
Country: USA

Publications

  1. pmc SLITRK6 mutations cause myopia and deafness in humans and mice
    Mustafa Tekin
    John P Hussman Institute for Human Genomics and Dr John T Macdonald Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida 33136, USA
    J Clin Invest 123:2094-102. 2013
  2. doi request reprint GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf
    Mustafa Tekin
    The Dr John T Macdonald Foundation Department of Human Genetics, University of Miami, Leonard M Miller School of Medicine, Miami, Florida 33136, USA
    Ann Hum Genet 74:155-64. 2010
  3. pmc Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss
    Oscar Diaz-Horta
    John P Hussman Institute for Human Genomics and the Dr John T Macdonald Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, United States of America
    PLoS ONE 7:e50628. 2012
  4. pmc Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia
    Asli Sirmaci
    John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA
    Am J Hum Genet 89:289-94. 2011
  5. pmc An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability
    Michelle Falcone
    Dr John T Macdonald Department of Human Genetics and John P Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, United States of America
    PLoS ONE 8:e82810. 2013
  6. pmc Challenges in whole exome sequencing: an example from hereditary deafness
    Asli Sirmaci
    John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, United States of America
    PLoS ONE 7:e32000. 2012
  7. doi request reprint Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome
    Stephanie Sacharow
    Dr John T Macdonald Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida 33136, USA
    Am J Med Genet A 158:547-52. 2012
  8. pmc Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss
    Kemal O Yariz
    John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA
    Am J Hum Genet 91:872-82. 2012
  9. pmc Next-generation sequencing in genetic hearing loss
    Denise Yan
    Department of Otolaryngology, Miller School of Medicine, University of Miami, Miami, Florida 33136, USA
    Genet Test Mol Biomarkers 17:581-7. 2013
  10. doi request reprint GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis
    Michael A Gonzalez
    Dr John T Macdonald Foundation Department of Human Genetics and John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA
    Hum Mutat 34:842-6. 2013

Research Grants

Collaborators

Detail Information

Publications13

  1. pmc SLITRK6 mutations cause myopia and deafness in humans and mice
    Mustafa Tekin
    John P Hussman Institute for Human Genomics and Dr John T Macdonald Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida 33136, USA
    J Clin Invest 123:2094-102. 2013
    ..Taken together, our results showed that SLITRK6 plays a crucial role in the development of normal hearing as well as vision in humans and in mice and that its disruption leads to a syndrome characterized by severe myopia and deafness...
  2. doi request reprint GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf
    Mustafa Tekin
    The Dr John T Macdonald Foundation Department of Human Genetics, University of Miami, Leonard M Miller School of Medicine, Miami, Florida 33136, USA
    Ann Hum Genet 74:155-64. 2010
    ..We found a lower frequency of assortative mating (37.5%) and decreased genetic fitness (62%) of the deaf in Mongolia as compared to the western populations, which provides an explanation for lower frequency of GJB2 deafness in Mongolia...
  3. pmc Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss
    Oscar Diaz-Horta
    John P Hussman Institute for Human Genomics and the Dr John T Macdonald Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, United States of America
    PLoS ONE 7:e50628. 2012
    ..The excess of heterozygous variants should be considered during search for causative mutations in ARNSHL genes, especially in small-sized families...
  4. pmc Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia
    Asli Sirmaci
    John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA
    Am J Hum Genet 89:289-94. 2011
    ..Our results demonstrate that mutations in ANKRD11 cause KBG syndrome and outline a fundamental role of ANKRD11 in craniofacial, dental, skeletal, and central nervous system development and function...
  5. pmc An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability
    Michelle Falcone
    Dr John T Macdonald Department of Human Genetics and John P Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, United States of America
    PLoS ONE 8:e82810. 2013
    ..SZT2 is highly expressed in neuronal tissues and regulates seizure threshold and neuronal excitation in mice. We conclude that the disruption of SZT2 with some residual function might lead to mild or moderate ID without seizures. ..
  6. pmc Challenges in whole exome sequencing: an example from hereditary deafness
    Asli Sirmaci
    John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, United States of America
    PLoS ONE 7:e32000. 2012
    ..This study highlights some of the challenges in the analyses of whole exome data in the bid to establish the true causative variant in Mendelian disease...
  7. doi request reprint Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome
    Stephanie Sacharow
    Dr John T Macdonald Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida 33136, USA
    Am J Med Genet A 158:547-52. 2012
    ..We conclude that microdeletions involving ANKRD11 result in a phenotype similar to that of KBG syndrome. © 2012 Wiley Periodicals, Inc...
  8. pmc Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss
    Kemal O Yariz
    John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA
    Am J Hum Genet 91:872-82. 2012
    ..We propose that OTOGL mutations affect the production and/or function of acellular structures of the inner ear, which ultimately leads to sensorineural hearing loss...
  9. pmc Next-generation sequencing in genetic hearing loss
    Denise Yan
    Department of Otolaryngology, Miller School of Medicine, University of Miami, Miami, Florida 33136, USA
    Genet Test Mol Biomarkers 17:581-7. 2013
    ..In this review, we describe commonly used genomic technologies as well as the application of these technologies to the genetic diagnosis of hearing loss (HL) and to the discovery of novel genes for syndromic and nonsyndromic HL. ..
  10. doi request reprint GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis
    Michael A Gonzalez
    Dr John T Macdonald Foundation Department of Human Genetics and John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA
    Hum Mutat 34:842-6. 2013
    ..In addition, the system is fast, obtaining results within 4 sec across ∼1,200 exomes. We believe that this system will further enhance identification of genetic causes of human disease...
  11. pmc Co-existence of other copy number variations with 22q11.2 deletion or duplication: a modifier for variable phenotypes of the syndrome?
    Deling Li
    Department of Pathology, University of Miami Miller School of Medicine, Miami, FL 33136, USA
    Mol Cytogenet 5:18. 2012
    ..abstract:..
  12. pmc Mutation of the ATP-gated P2X(2) receptor leads to progressive hearing loss and increased susceptibility to noise
    Denise Yan
    Department of Otolaryngology, University of Miami School of Medicine, Miami, FL 33136, USA
    Proc Natl Acad Sci U S A 110:2228-33. 2013
    ..V60L, noise exposure exacerbated high-frequency hearing loss in young adulthood. Our results suggest that P2X(2) function is required for life-long normal hearing and for protection from exposure to noise...
  13. pmc Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome
    Kemal O Yariz
    Department of Human Genetics and Institute for Human Genomics, University of Miami School of Medicine, Miami, Florida, USA
    Fertil Steril 96:e125-30. 2011
    ..To test by genomic analysis whether empty follicle syndrome (EFS) in a family with two affected sisters has a genetic basis...

Research Grants1

  1. A Collaborative search for new genes for non-syndromic deafness
    Mustafa Tekin; Fiscal Year: 2010
    ..The outcome of this proposal will expand the scientific knowledge on the genomic basis of hereditary deafness. ..