Publications

Genetic basis of hearing loss in Spanish, Hispanic and Latino populations.
Gene 2018 Jan 10. Epub 2018 Jan 10.
Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL, USA; Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha, China; Tsinghua University School of Medicine, Beijing 10084, China; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136, USA. Electronic address:

Apolipoprotein E Gene Polymorphism and Subclinical Carotid Atherosclerosis: The Northern Manhattan Study.
J Stroke Cerebrovasc Dis 2017 Nov 2. Epub 2017 Nov 2.
Department of Neurology, Miller School of Medicine, University of Miami, Miami, Florida; Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida.

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:

Genome-wide scan in Hispanics highlights candidate loci for brain white matter hyperintensities.
Neurol Genet 2017 Oct 25;3(5):e185. Epub 2017 Sep 25.
John T. McDonald Department of Human Genetics (A.B., L.W., S.H.B., R.L.S.), John P Hussman Institute for Human Genomics (A.B., N.D., L.W., S.H.B.), Evelyn F. McKnight Brain Institute (C.D., C.B.W., T.R., R.L.S.), Department of Neurology (C.D., C.B.W., T.R., R.L.S.), and Department of Epidemiology and Public Health (C.B.W., T.R., R.L.S.), Miller School of Medicine, University of Miami, FL; Gertrude H. Sergievsky Center (A.M.B., R.M.), Taub Institute for Research on Alzheimer's Disease and the Aging Brain (A.M.B., R.M.), and Department of Neurology (A.M.B., R.M.), College of Physicians and Surgeons, Columbia University, New York; and Department of Neurology and Center for Neuroscience (C.D.), University of California at Davis, Sacramento.

The genetic basis of deafness in populations of African descent.
J Genet Genomics 2017 Jun 6;44(6):285-294. Epub 2017 May 6.
Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA; Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha 410008, China; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136, USA; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA. Electronic address:

Novel genetic loci associated with hippocampal volume.
Nat Commun 2017 Jan 18;8:13624. Epub 2017 Jan 18.
Department of Epidemiology, Erasmus University Medical Center, 3015 CE Rotterdam, The Netherlands.




A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3.
Am J Hum Genet 2016 Apr 24;98(4):744-54. Epub 2016 Mar 24.
Center for Craniofacial and Dental Genetics, Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15219, USA; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA; Clinical and Translational Science, School of Medicine, University of Pittsburgh, Pittsburgh, PA 15213, USA. Electronic address:

Regulatory variant in FZD6 gene contributes to nonsyndromic cleft lip and palate in an African-American family.
Mol Genet Genomic Med 2015 Sep 7;3(5):440-51. Epub 2015 May 7.
Department of Pediatrics, University of Texas Medical School at Houston Houston, Texas ; Graduate School of Biomedical Sciences, University of Texas Health Science Center Houston, Texas ; University of Texas School of Dentistry at Houston Houston, Texas.

Genetic variants in LEKR1 and GALNT10 modulate sex-difference in carotid intima-media thickness: a genome-wide interaction study.
Atherosclerosis 2015 Jun 16;240(2):462-7. Epub 2015 Apr 16.
Department of Neurology, Miller School of Medicine, University of Miami, Miami, FL 33136, USA; Department of Epidemiology, Miller School of Medicine, University of Miami, Miami, FL 33136, USA. Electronic address:


Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.
Circ Cardiovasc Genet 2015 Apr 7;8(2):398-409. Epub 2015 Feb 7.

Relationship between sirtuin and mitochondrial uncoupling protein genes and carotid artery stiffness.
Transl Res 2015 Feb 6;165(2):358-9. Epub 2014 Sep 6.
Department of Neurology, University of Miami, Miami, FL; Evelyn McKnight Brain Institute, Miller School of Medicine, University of Miami, Miami, FL; Department of Public Health Sciences, University of Miami, Miami, FL. Electronic address:

Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations.
BMC Med Genet 2015 Feb 25;16. Epub 2015 Feb 25.
John P. Hussmann Institute for Human Genomics and John T. Macdonald Foundation, Department of Human Genetics, Miller school of Medicine, University of Miami, 1501 NW 10th Avenue, BRB-610 (M-860), Miami, FL, 33136, USA.

Further evidence suggesting a role for variation in ARHGAP29 variants in nonsyndromic cleft lip/palate.
Birth Defects Res A Clin Mol Teratol 2014 Sep 27;100(9):679-85. Epub 2014 Aug 27.
Department of Endodontics, University of Texas Health Science Center at Houston School of Dentistry, Houston, Texas; Craniofacial Research Center, University of Texas Health Science Center at Houston School of Dentistry, Houston, Texas.

A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa.
Invest Ophthalmol Vis Sci 2014 Sep 4;55(11):7147-58. Epub 2014 Sep 4.
Human Genetics Center, University of Texas Health Science Center, Houston, Texas, United States Department of Ophthalmology and Visual Sciences, University of Texas Health Science Center, Houston, Texas, United States.

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.

Exome-based mapping and variant prioritization for inherited Mendelian disorders.
Am J Hum Genet 2014 Mar 20;94(3):373-84. Epub 2014 Feb 20.
Human Genetics Center, University of Texas Health Science Center, Houston, TX 77025, USA. Electronic address:

Genome-wide interaction study identifies RCBTB1 as a modifier for smoking effect on carotid intima-media thickness.
Arterioscler Thromb Vasc Biol 2014 Jan 7;34(1):219-25. Epub 2013 Nov 7.
From the John T. McDonald Department of Human Genetics, John P. Hussman Institute for Human Genomics (L.W., A.B., S.H.B., R.L.S.), Department of Neurology (T.R., S.H.B., R.L.S., C.D.), Department of Public Health Sciences (T.R., R.L.S.), and Department of Medicine (B.H.), Miller School of Medicine, University of Miami, FL; and Department of Biostatistics, Yale School of Public Health, Yale University, New Haven, CT (H.Z.).


Fine mapping study reveals novel candidate genes for carotid intima-media thickness in Dominican Republican families.
Circ Cardiovasc Genet 2012 Apr 14;5(2):234-41. Epub 2012 Mar 14.
John T. McDonald Department of Human Genetics, John P. Hussman Institute for Human Genomics, Department of Neurology, Epidemiology and Public Health, Miller School of Medicine, University of Miami, 1120 NW 14th St., Miami, FL 33136, USA.



A candidate gene study revealed sex-specific association between the OLR1 gene and carotid plaque.
Stroke 2011 Mar 21;42(3):588-92. Epub 2011 Jan 21.
Dr John T. Macdonald Foundation, Department of Human Genetics, Miller School of Medicine, University of Miami, Clinical Research Building, Suite #CRB-13, 1120 NW 14th Street, Miami, FL 33136, USA.



A comprehensive genetic study on left atrium size in Caribbean Hispanics identifies potential candidate genes in 17p10.
Circ Cardiovasc Genet 2010 Aug 19;3(4):386-92. Epub 2010 Jun 19.
John T. McDonald Department of Human Genetics, John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA.


Novel quantitative trait locus is mapped to chromosome 12p11 for left ventricular mass in Dominican families: the Family Study of Stroke Risk and Carotid Atherosclerosis.
BMC Med Genet 2009 Jul 23;10:74. Epub 2009 Jul 23.
Department of Human Genetics, Miami Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, 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.



North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene.
Mol Vis 2016 17;22:1239-1247. Epub 2016 Oct 17.
Human Genetics Center, School of Public Health, The University of Texas Health Science Center (UTHealth), Houston, TX; Ruiz Dept. of Ophthalmology, University of Texas Health Science Center Houston (UTHealth), Houston, TX.

Novel genetic loci underlying human intracranial volume identified through genome-wide association.
Nat Neurosci 2016 12 3;19(12):1569-1582. Epub 2016 Oct 3.
Imaging Genetics Center, USC Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine of University of Southern California, Los Angeles, California, USA.


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