Publications

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:


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


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.

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

Evidence for genotype-phenotype correlation for OTOF mutations.
Int J Pediatr Otorhinolaryngol 2014 Jun 28;78(6):950-3. Epub 2014 Mar 28.
Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, United States; Division of Genetics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey. Electronic address:

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.


MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes.
Am J Hum Genet 2010 Nov 28;87(5):679-86. Epub 2010 Oct 28.
Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami, FL 33136, USA.




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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