Publications

KBG syndrome.
Orphanet J Rare Dis 2017 Dec 19;12(1):183. Epub 2017 Dec 19.
Division of Clinical and Translational Genetics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, 1501 NW 10th Avenue, BRB-336 (M-860), Miami, FL, 33136, USA.

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:

Novel Causative Variants in, andAssociated with Intellectual Disability and Additional Phenotypic Features.
J Pediatr Genet 2017 Jun 14;6(2):77-83. Epub 2017 Feb 14.
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, United States.

Dominant deafness-onychodystrophy syndrome caused by anmutation.
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.



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 MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome.
Orphanet J Rare Dis 2015 Sep 30;10:128. Epub 2015 Sep 30.
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 10th Avenue, BRB-610 M-860, Miami, FL, 33136, USA.

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.

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,


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

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.

Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy.
Eur J Pediatr 2014 Jun 16;173(6):827-30. Epub 2014 Apr 16.
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 10th Avenue, BRB-610 (M-860), Miami, FL, 33136, USA,

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.


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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