Oscar Diaz-Horta

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, FL, 33136, USA.

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November 2018

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss.

Hum Genet 2018 Jul 7;137(6-7):479-486. Epub 2018 Jul 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, 33136, USA.

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July 2018

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

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.

Genet Med 2016 Apr 30;18(4):364-71. Epub 2015 Jul 30.

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.

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April 2016

Whole-exome sequencing and its impact in hereditary hearing loss.

Authors:

Tahir Atik Guney Bademci Oscar Diaz-Horta Susan H Blanton Mustafa Tekin

Genet Res (Camb) 2015 Mar 31;97:e4. Epub 2015 Mar 31.

Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics,Miller School of Medicine,University of Miami,USA.

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March 2015

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

Authors:

Imen Chakchouk M'hamed Grati Guney Bademci Mariem Bensaid Qi Ma Amine Chakroun Joseph Foster Denise Yan Duygu Duman Oscar Diaz-Horta Abdelmonem Ghorbel Rahul Mittal Amjad Farooq Mustafa Tekin Saber Masmoudi Xue Zhong Liu

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

Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.

Hum Genet 2015 Feb 21;134(2):181-90. Epub 2014 Nov 21.

Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, 1501 NW 10 Ave, BRB 610, M-860, Miami, FL, 33136, USA,

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February 2015

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

Authors:

Guney Bademci Oscar Diaz-Horta Shengru Guo Duygu Duman Derek Van Booven Joseph Foster Filiz Basak Cengiz Susan Blanton Mustafa Tekin

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.

Authors:

Oscar Diaz-Horta Asli Subasioglu-Uzak M'hamed Grati Alexandra DeSmidt Joseph Foster Lei Cao Guney Bademci Suna Tokgoz-Yilmaz Duygu Duman F Basak Cengiz Clemer Abad Rahul Mittal Susan Blanton Xue Z Liu Amjad Farooq Katherina Walz Zhongmin Lu Mustafa Tekin

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

De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.

Authors:

Willa Thorson Oscar Diaz-Horta Joseph Foster Michail Spiliopoulos Rubén Quintero Amjad Farooq Susan Blanton Mustafa Tekin

Hum Genet 2014 Jun 13;133(6):737-42. Epub 2013 Dec 13.

Dr. John T. Macdonald Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, 1501 NW 10th Avenue, BRB-610 (M-860), Miami, FL, 33136, USA.

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June 2014

DNASE1L3 mutations in hypocomplementemic urticarial vasculitis syndrome.

Authors:

Z Birsin Ozçakar Joseph Foster Oscar Diaz-Horta Ozgur Kasapcopur Yao-Shan Fan Fatoş Yalçınkaya Mustafa Tekin

Arthritis Rheum 2013 Aug;65(8):2183-9

Ankara University School of Medicine, Ankara, Turkey.

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August 2013

SLITRK6 mutations cause myopia and deafness in humans and mice.

J Clin Invest 2013 May 1;123(5):2094-102. Epub 2013 Apr 1.

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.

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May 2013

Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.

Authors:

Oscar Diaz-Horta Duygu Duman Joseph Foster Aslı Sırmacı Michael Gonzalez Nejat Mahdieh Nikou Fotouhi Mortaza Bonyadi Filiz Başak Cengiz Ibis Menendez Rick H Ulloa Yvonne J K Edwards Stephan Züchner Susan Blanton Mustafa Tekin

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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May 2013