Publications by authors named "Filiz Basak Cengiz"

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Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.
Int J Pediatr Otorhinolaryngol 2017 Oct 8;101:167-171. Epub 2017 Aug 8.
John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, USA; Dr. John T. Macdonald Foundation, Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, FL, USA; Department of Otorhinolaryngology, University of Miami, Miller School of Medicine, Miami, FL, USA. Electronic address:

Novel EYA1 variants causing Branchio-oto-renal syndrome.
Int J Pediatr Otorhinolaryngol 2017 Jul 26;98:59-63. Epub 2017 Apr 26.
John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA; Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL, USA. Electronic address:

Dominant deafness-onychodystrophy syndrome caused by an mutation.
Clin Case Rep 2017 Apr 8;5(4):376-379. Epub 2017 Feb 8.
John P. Hussman Institute for Human GenomicsUniversity of Miami Miller School of MedicineMiamiFloridaUSA; Department of Human GeneticsDr. John T. Macdonald FoundationUniversity of Miami Miller School of MedicineMiamiFloridaUSA.

GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf.
Ann Hum Genet 2010 Mar 27;74(2):155-64. Epub 2010 Jan 27.
The Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Leonard M. Miller School of Medicine, Miami, Florida 33136, USA.

A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia.
Laryngoscope 2010 Feb;120(2):359-64
Department of Otorhinolaryngology, Division of Molecular Pharmacokinetics and Imaging, Biochemical Genetics and National Neonatal Screening Laboratories, Vienna, Austria.


Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia.
Am J Hum Genet 2007 Feb 27;80(2):338-44. Epub 2006 Dec 27.
Division of Clinical Molecular Pathology and Genetics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey.

Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.
PLoS One 2012 30;7(11):e50628. Epub 2012 Nov 30.
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.

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