Publications by authors named "Duygu Duman"

34Publications

Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing loss.

Clin Genet 2019 12 27;96(6):575-578. Epub 2019 Aug 27.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida.

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December 2019

Adams-Oliver syndrome caused by mutations of the EOGT gene.

Am J Med Genet A 2019 11 31;179(11):2246-2251. Epub 2019 Jul 31.

Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.

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November 2019

A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss.

Hum Genet 2019 Oct 7;138(10):1071-1075. Epub 2019 Jun 7.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, 1501 NW 10th Avenue BRB-610 (M-860), Miami, FL, USA.

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October 2019

Genetic Causes of Inner Ear Anomalies: a Review from the Turkish Study Group for Inner Ear Anomalies

Balkan Med J 2019 07 27;36(4):206-211. Epub 2019 May 27.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA

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July 2019

Research of genetic bases of hereditary non-syndromic hearing loss.

Turk Pediatri Ars 2017 Sep 1;52(3):122-132. Epub 2017 Sep 1.

Department of Medical Genetics, Erciyes University Faculty of Medicine, Kayseri, Turkey.

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September 2017

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:

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October 2017

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:

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July 2017

ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice.

Proc Natl Acad Sci U S A 2016 May 9;113(21):5993-8. Epub 2016 May 9.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136; Department of Otolaryngology, Miller School of Medicine, University of Miami, Miami, FL 33136; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136

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May 2016

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.

Mol Genet Genomics 2015 Aug 30;290(4):1327-34. Epub 2015 Jan 30.

Laboratoire Procédés de Criblage Moléculaire et Cellulaire, Centre de Biotechnologie de Sfax, Université de Sfax, Route sidimansour Km 6, BP '1177', 3018, Sfax, Tunisia.

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August 2015

Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss.

Genet Test Mol Biomarkers 2014 Sep 25;18(9):658-61. Epub 2014 Jul 25.

1 John P. Hussmann Institute for Human Genomics, Miller School of Medicine, University of Miami , Miami, Florida.

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September 2014

FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing.

Proc Natl Acad Sci U S A 2014 Jul 23;111(27):9864-8. Epub 2014 Jun 23.

Dr. John T. Macdonald Foundation Department of Human Genetics,John P. Hussman Institute for Human Genomics, andDivision of Pediatric Genetics, Ankara University School of Medicine, Ankara 06100, Turkey

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July 2014