Publications by authors named "Oscar Diaz-Horta"

32Publications

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

Ripor2 is involved in auditory hair cell stereociliary bundle structure and orientation.

J Mol Med (Berl) 2018 11 3;96(11):1227-1238. Epub 2018 Oct 3.

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

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

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

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.

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.

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

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

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

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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May 2013

GPSM2 mutations in Chudley-McCullough syndrome.

Am J Med Genet A 2012 Nov 14;158A(11):2972-3. Epub 2012 Sep 14.

Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida 33136, USA.

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November 2012

Enteroviruses and causality of type 1 diabetes: how close are we?

Pediatr Diabetes 2012 Feb 20;13(1):92-9. Epub 2011 Oct 20.

Department of Experimental Medicine, Laboratory of Medical Microbiology, University of Insubria, Varese, Italy.

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February 2012