Publications

Impact of human CA8 on thermal antinociception in relation to morphine equivalence in mice.
Neuroreport 2017 Dec;28(18):1215-1220
aDepartment of Anesthesiology, Perioperative Medicine and Pain Management bJohn P. Hussman Institute for Human Genomics cJohn T. Macdonald Foundation, Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida dCenter for Pharmacogenetics and Individualized Therapy, University of North Caroline, Eshelman School of Pharmacy, Chapel Hill eDepartment of Anesthesiology, Duke University School of Medicine, Durham, North Carolina, USA.

Car8 dorsal root ganglion expression and genetic regulation of analgesic responses are associated with a cis-eQTL in mice.
Mamm Genome 2017 Oct 25;28(9-10):407-415. Epub 2017 May 25.
Department of Pharmacology and Experimental Therapeutics, Eshelman School of Pharmacy, University of North Carolina, Chapel Hill, NC, USA.

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.
Nat Genet 2017 Sep 17;49(9):1373-1384. Epub 2017 Jul 17.
Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.


Transethnic genome-wide scan identifies novel Alzheimer's disease loci.
Alzheimers Dement 2017 Jul 7;13(7):727-738. Epub 2017 Feb 7.
Department of Medicine (Biomedical Genetics), Boston University Schools of Medicine, Boston, MA, USA; Department of Neurology, Boston University Schools of Medicine, Boston, MA, USA; Department of Biostatistics, Boston University Schools of Public Health, Boston, MA, USA; Department of Ophthalmology, Boston University Schools of Medicine, Boston, MA, USA; Department of Epidemiology, Boston University Schools of Public Health, Boston, MA, USA. Electronic address:

Incomplete response to artificial tears is associated with features of neuropathic ocular pain.
Br J Ophthalmol 2016 Jun 16;100(6):745-9. Epub 2015 Sep 16.
Department of Ophthalmology, Miami Veterans Administration Medical Center, Miami, Florida, USA Department of Anesthesiology, Perioperative Medicine and Pain Management, University of Miami Miller School of Medicine, Miami, Florida, USA John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA John T Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.

DNA variants in CACNA1C modify Parkinson disease risk only when vitamin D level is deficient.
Neurol Genet 2016 Jun 12;2(3):e72. Epub 2016 Apr 12.
John P. Hussman Institute for Human Genomics (L.W., L.M., G.W.B., E.R.M., M.A.P.-V., J.M.V., W.K.S.), and Dr. John T. Macdonald Foundation Department of Human Genetics (L.W., G.W.B., E.R.M., M.A.P.-V., J.M.V., W.K.S.), Miller School of Medicine, University of Miami, FL; Departments of Neurology (M.L.E.), and Pathology (J.C.R.), Emory University, Atlanta, GA; Department of Epidemiology and Biostatistics and Institute for Computational Biology (J.L.H.), Case Western Reserve University, Cleveland, OH; Veterans Affairs Puget Sound Health Care System and Department of Neurology (C.P.Z.), University of Washington, Seattle, WA; and Department of Neurology (H.P.), University of Alabama at Birmingham, AL.

ABCA7 frameshift deletion associated with Alzheimer disease in African Americans.
Neurol Genet 2016 Jun 17;2(3):e79. Epub 2016 May 17.
John P. Hussman Institute for Human Genomics (H.N.C., B.W.K., S.R., K.L.H.-N., M.A.K., P.L.W., D.V.B., D.M.D., M.L.C., J.M.V., J.R.G., G.W.B., E.R.M., R.M.C., M.A.P.-V.), Department of Neurology (H.N.C., J.M.V., M.A.P.-V.), Dr. John T. Macdonald Foundation Department of Human Genetics (D.M.D., M.L.C., J.M.V., J.R.G., G.W.B., E.R.M., R.M.C.), Miller School of Medicine, University of Miami, FL; The Taub Institute for Research on Alzheimer's Disease and the Aging Brain (B.N.V., R.M.), Gertrude H. Sergievsky Center, Departments of Neurology, Psychiatry, and Epidemiology, College of Physicians and Surgeons, Columbia University, New York, NY; Department of Pathology and Laboratory Medicine (B.A.D., G.D.S.), University of Pennsylvania Perelman School of Medicine, Philadelphia, PA; Department of Biology (R.L., G.S.B., M.A.P.-V.), North Carolina A&T State University, Greensboro, NC; Departments of Medicine, Neurology, Ophthalmology, Genetics & Genomics, Epidemiology, and Biostatistics (L.A.F.), Boston University, MA; and Department of Epidemiology and Biostatistics (J.L.H.), Institute for Computational Biology, Case Western Reserve University School of Medicine, Cleveland, OH.


Neuropathic Ocular Pain due to Dry Eye is Associated with Multiple Comorbid Chronic Pain Syndromes.
J Pain 2016 Mar 1;17(3):310-8. Epub 2015 Dec 1.
Miami Veterans Administration Medical Center, Miami, Florida; Department of Anesthesiology, Perioperative Medicine and Pain Management, University of Miami Miller School of Medicine, Miami, Florida; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida; John T Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida. Electronic address:


Segregation of a rare TTC3 variant in an extended family with late-onset Alzheimer disease.
Neurol Genet 2016 Feb 14;2(1):e41. Epub 2016 Jan 14.
John P. Hussman Institute for Human Genomics (M.A.K., H.N.C., K.L.H.-N., S.R., B.W.K., P.L.W., S.L.Z., E.R.M., G.W.B., J.M.V., M.L.C., J.R.G., R.M.C., M.A.P.-V.), Department of Neurology (H.N.C., S.L.Z., J.M.V., M.A.P.-V.), and Dr. John T. Macdonald Foundation Department of Human Genetics (S.L.Z., E.R.M., G.W.B., J.M.V., M.L.C., J.R.G., M.A.P.-V.), University of Miami, Miller School of Medicine, Miami, FL; Departments of Medicine, Neurology, Ophthalmology, Genetics & Genomics, Epidemiology, and Biostatistics (L.A.F.), Boston University, Boston, MA; Department of Epidemiology and Biostatistics (J.L.H.), Institute for Computational Biology, Case Western Reserve University School of Medicine, Cleveland, OH; and Department of Pathology and Laboratory Medicine (G.D.S.), University of Pennsylvania School of Medicine, Philadelphia, PA.

Genome-wide linkage analyses of non-Hispanic white families identify novel loci for familial late-onset Alzheimer's disease.
Alzheimers Dement 2016 Jan 11;12(1):2-10. Epub 2015 Sep 11.
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:

Dry eye symptoms align more closely to non-ocular conditions than to tear film parameters.
Br J Ophthalmol 2015 Aug 20;99(8):1126-9. Epub 2015 Feb 20.
Department of Ophthalmology, Miami Veterans Administration Medical Center, Miami, Florida, USA John T Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA Ophthalmology Department, Washington University School of Medicine, St. Louis, Missouri, USA Department of Anesthesiology, Perioperative Medicine and Pain Management, University of Miami Miller School of Medicine, Miami, Florida, USA.


Dry eye symptom severity and persistence are associated with symptoms of neuropathic pain.
Br J Ophthalmol 2015 May 21;99(5):665-8. Epub 2014 Oct 21.
Miami Veterans Administration Medical Center, Miami, Florida, USA John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA John T Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA Department of Anesthesiology, Perioperative Medicine and Pain Management, University of Miami Miller School of Medicine, Miami, Florida, USA.

Vitamin D from different sources is inversely associated with Parkinson disease.
Mov Disord 2015 Apr 27;30(4):560-6. Epub 2014 Dec 27.
John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, Florida, USA.

PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease.
Neurology 2015 Mar 6;84(10):972-80. Epub 2015 Feb 6.
From the John P. Hussman Institute for Human Genomics (G.W.B., W.K.S., E.R.M., K.N., L.W., D.M.D., M.A.P.-V., J.M.V.) and University of Miami Brain Endowment Bank (D.C.M.), Miller School of Medicine, University of Miami, FL; Departments of Neuroscience (D.W.D., O.A.R.) and Neurology (Z.K.W.), Mayo Clinic Florida, Jacksonville; Department of Pathology & Laboratory Medicine (G.S., J.Q.T., V.M.V.D., H.I.H.), Perelman School of Medicine, Center for Neurodegenerative Disease Research, University of Pennsylvania, Philadelphia; Group Health Research Institute (E.B.L.), Seattle, WA; Departments of Psychiatry, and Genetics and Genomic Sciences (J.D.B.), Mount Sinai School of Medicine, New York, NY; Arizona Alzheimer's Consortium (T.G.B.), Phoenix; Sun Health Research Institute (T.G.B.), Sun City, AZ; Division of Neuropathology, Department of Pathology (J.C.T., O.P.), and Department of Neurology and the Solomon H. Snyder Department of Neuroscience (T.M.D.), Johns Hopkins University School of Medicine, Baltimore, MD; Kubik Laboratory for Neuropathology (M.P.F.), Massachusetts General Hospital and Harvard Medical School, Charlestown, MA; Department of Pathology and Laboratory Medicine, Indiana Alzheimer Disease Center (B.G.), and Department of Medical and Molecular Genetics (T.M.F.), Indiana University School of Medicine, Indianapolis; Departments of Neurology (L.S.H., K.M.) and Psychiatry (K.M.), Gertrude H. Sergievsky Center, and Taub Institute for Research on Alzheimer's Disease and the Aging Brain, New York; Department of Pathology and Cell Biology (J.P.V.), Taub Institute for Research on Alzheimer's Disease and the Aging Brain, New York, NY; The Parkinson's Institute (S.M.G.), Sunnyvale, CA; Departments of Pathology and Laboratory Medicine (Neuropathology) and Neurology (H.V.V.), David Geffen School of Medicine at University of California Los Angeles; Department of Pathology (T.J.M.), University of Washington School of Medicine, Seattle; VA Puget Sound Health Care System (

Rarity of the Alzheimer disease-protective APP A673T variant in the United States.
JAMA Neurol 2015 Feb;72(2):209-16
Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia.

Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study.
JAMA Neurol 2014 Nov;71(11):1394-404
Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois.



Valid Monte Carlo permutation tests for genetic case-control studies with missing genotypes.
Genet Epidemiol 2014 May 10;38(4):325-44. Epub 2014 Apr 10.
Division of Human Genetics, Department of Internal Medicine, The Ohio State University Wexner Medical Center, Columbus, Ohio, United States of America; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, United States of America.



C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease.
Ann Hum Genet 2013 Sep 12;77(5):351-63. Epub 2013 Jul 12.
University of Miami, Miller School of Medicine, John P. Hussman Institute for Human Genomics, Biomedical Research building, 1501 NW 10th Ave, Miami, FL, 33136, USA.




Vitamin D receptor and Alzheimer's disease: a genetic and functional study.
Neurobiol Aging 2012 Aug 4;33(8):1844.e1-9. Epub 2012 Feb 4.
Hussman Institute for Human Genomics, University of Miami Miller School of Medicine 1501 NW 10 Ave, Miami, Florida, USA.


Novel late-onset Alzheimer disease loci variants associate with brain gene expression.
Neurology 2012 Jul 20;79(3):221-8. Epub 2012 Jun 20.
Department of Neuroscience, Biostatistics Unit, Mayo Clinic Florida, Jacksonville, FL, USA.



Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
Nat Genet 2011 May 3;43(5):436-41. Epub 2011 Apr 3.
The John P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, USA.

Comparison of three targeted enrichment strategies on the SOLiD sequencing platform.
PLoS One 2011 Apr 29;6(4):e18595. Epub 2011 Apr 29.
John T. MacDonald Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, United States of America.

Identifying consensus disease pathways in Parkinson's disease using an integrative systems biology approach.
PLoS One 2011 Feb 22;6(2):e16917. Epub 2011 Feb 22.
John P Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, United States of America.



Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.
PLoS Genet 2010 Sep 23;6(9):e1001130. Epub 2010 Sep 23.
Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, United States of America.


A modifier locus on chromosome 5 contributes to L1 cell adhesion molecule X-linked hydrocephalus in mice.
Neurogenetics 2010 Feb 30;11(1):53-71. Epub 2009 Jun 30.
The Miami Project to Cure Paralysis, Miller School of Medicine, University of Miami, Lois Pope LIFE Center, Room 4-16, 1095 NW 14th Terrace, Miami, FL 33136, USA.

An association analysis of Alzheimer disease candidate genes detects an ancestral risk haplotype clade in ACE and putative multilocus association between ACE, A2M, and LRRTM3.
Am J Med Genet B Neuropsychiatr Genet 2009 Jul;150B(5):721-35
Department of Molecular Physiology and Biophysics and Center for Human Genetics Research, Vanderbilt University, Nashville, Tennessee 37232, USA.


Confronting complexity in late-onset Alzheimer disease: application of two-stage analysis approach addressing heterogeneity and epistasis.
Genet Epidemiol 2008 Apr;32(3):187-203
Biobehavioral Intervention Training Program, Vanderbilt Kennedy Center for Research on Human Development, Vanderbilt University Institute for Imaging Science, Vanderbilt University, Nashville, Tennessee 37203, USA.

Investigation of potential gene-gene interactions between APOE and RELN contributing to autism risk.
Psychiatr Genet 2007 Aug;17(4):221-6
Center for Human Genetics, Department of Medicine, Duke University Medical Center, Snyderman Genomic Sciences Building, Durham, NC 27710, USA.



Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease.
PLoS One 2014 12;9(6):e94661. Epub 2014 Jun 12.
Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom.

Carbonic anhydrase-8 regulates inflammatory pain by inhibiting the ITPR1-cytosolic free calcium pathway.
PLoS One 2015 3;10(3):e0118273. Epub 2015 Mar 3.
Department of Anesthesiology, Perioperative Medicine and Pain Management, University of Miami Miller School of Medicine, Miami, Florida, United States of America; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, United States of America; John T Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, United States of America; Bruce W. Carter Miami Veterans Healthcare System, Miami, Florida, United States of America.

Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants.
Mol Autism 2015 7;6:43. Epub 2015 Jul 7.
John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136 USA ; Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL 33136 USA.

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