Publications

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.



A population-specific reference panel empowers genetic studies of Anabaptist populations.
Sci Rep 2017 Jul 20;7(1):6079. Epub 2017 Jul 20.
Human Genetics Branch, National Institute of Mental Health Intramural Research Program, Bethesda, MD, 20892, USA.



Two novel loci, COBL and SLC10A2, for Alzheimer's disease in African Americans.
Alzheimers Dement 2017 Feb 20;13(2):119-129. Epub 2016 Oct 20.
Department of Neurology, Boston University School of Medicine, Boston, MA, USA; Alzheimer's Disease and CTE Center, Boston University School of Medicine, Boston, MA, USA; Department of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, MA, USA; Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA; Department of Ophthalmology, Boston University School of Medicine, Boston, MA, USA; Department of Epidemiology, Boston University School of Public Health, Boston, MA, USA.

Age at natural menopause genetic risk score in relation to age at natural menopause and primary open-angle glaucoma in a US-based sample.
Menopause 2017 Feb;24(2):150-156
1Department of Ophthalmology, Massachusetts Eye and Ear Infirmary 2Channing Division of Network Medicine, Brigham and Women's Hospital 3Department of Epidemiology, Harvard T.H. Chan School of Public Health, Harvard Medical School, Boston, MA 4Department of Epidemiology and Biostatistics 5Institute of Computational Biology, Case Western Reserve University School of Medicine, Cleveland, OH 6Division of Preventive Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 7Department of Ophthalmology 8Department of Medicine, Duke University, Duke University Medical Center, Durham, NC 9Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL 10Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI 11Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, WI 12Department of Ophthalmology, UPMC Eye Center, University of Pittsburgh, Pittsburgh, PA 13Departments of Ophthalmology and Anatomy/Cell Biology, University of Iowa, College of Medicine, Iowa City, IO 14Department of Ophthalmology, University of North Carolina, Chapel Hill, NC 15Department of Ophthalmology, WVU Eye Institute, Morgantown, WV 16Scripps Genome Center, University of California at San Diego, San Diego, CA 17Emmes Corporation, Chevy Chase, MD 18Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 19Department of Ophthalmology, Stanford University, Palo Alto, CA 20Department of Ophthalmology, Mayo Clinic, Rochester, MN 21Wills Eye Institute, Philadelphia, PA 22Einhorn Clinical Research Center, New York Eye and Ear Infirmary of Mount Sinai, New York, NY 23Department of Ophthalmology, Case Western Reserve University School of Medicine, Cleveland, OH 24Department of Ophthalmology & Visual Sciences, University of Nebraska Medical Center, Omaha, NE 25Department of Genetics; Stanford University, Palo Alto, CA 26Wilmer Eye Institute, Johns Hopkins University Hospital, Baltimore, MD 27Department of Ophthalmology, Hamilton Eye Center; University of California at San Diego, San Diego, CA 28Department of Cellular Biology & Anatomy, Augusta University, Augusta, GA.

Heritability of Choroidal Thickness in the Amish.
Ophthalmology 2016 Dec 19;123(12):2537-2544. Epub 2016 Oct 19.
John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida. Electronic address:


Epistatic Gene-Based Interaction Analyses for Glaucoma in eMERGE and NEIGHBOR Consortium.
PLoS Genet 2016 Sep 13;12(9):e1006186. Epub 2016 Sep 13.
Department of Biomedical and Translational Informatics, Geisinger Health System, Danville, Pennsylvania, United States of America.


Pathway analysis by randomization incorporating structure-PARIS: an update.
Bioinformatics 2016 Aug 7;32(15):2361-3. Epub 2016 Mar 7.
Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH, USA Institute for Computational Biology, Case Western Reserve University, Cleveland, OH, 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.

Genetic Association Analysis of Drusen Progression.
Invest Ophthalmol Vis Sci 2016 Apr;57(4):2225-31
Center for Human Genetics Research, Vanderbilt University, Nashville, Tennessee, United States 8Institute for Computational Biology, Case Western Reserve University, Cleveland, Ohio, United States.


A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
Nat Genet 2016 Feb 21;48(2):134-43. Epub 2015 Dec 21.
Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma.
Nat Genet 2016 Feb 11;48(2):189-94. Epub 2016 Jan 11.
Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.


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:

Linkage analyses in Caribbean Hispanic families identify novel loci associated with familial late-onset Alzheimer's disease.
Alzheimers Dement 2015 Dec 1;11(12):1397-1406. Epub 2015 Oct 1.
Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University Medical Center, New York, NY, USA; Gertrude H. Sergievsky Center, Columbia University Medical Center, New York, NY, USA; Department of Neurology, Columbia University Medical Center and New York Presbyterian Hospital, New York, NY, USA; Department of Epidemiology, School of Public Health, Columbia University, New York, NY, USA. Electronic address:



Estimating cumulative pathway effects on risk for age-related macular degeneration using mixed linear models.
BMC Bioinformatics 2015 Oct 14;16:329. Epub 2015 Oct 14.
Institute for Computational Biology, Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH, USA.

A common variant near TGFBR3 is associated with primary open angle glaucoma.
Hum Mol Genet 2015 Jul 10;24(13):3880-92. Epub 2015 Apr 10.
Singapore Eye Research Institute, Department of Ophthalmology, Yong Loo Lin School of Medicine, Duke-NUS Graduate Medical School, Singapore, Singapore,


Biology-Driven Gene-Gene Interaction Analysis of Age-Related Cataract in the eMERGE Network.
Genet Epidemiol 2015 Jul 17;39(5):376-84. Epub 2015 May 17.
Department of Biochemistry and Molecular Biology, Center for Systems Genomics, Eberly College of Science, The Pennsylvania State University, University Park, Pennsylvania, United States of America.


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.

Rapidly progressive Alzheimer's disease features distinct structures of amyloid-β.
Brain 2015 Apr 15;138(Pt 4):1009-22. Epub 2015 Feb 15.
1 Department of Pathology, Case Western Reserve University School of Medicine, 2085 Adelbert Rd, Cleveland, OH 44106, USA 2 National Prion Disease Pathology Surveillance Centre, Case Western Reserve University School of Medicine, 2085 Adelbert Rd, Cleveland, OH 44106, USA 3 Department of Neurology, Case Western Reserve University School of Medicine, 2085 Adelbert Rd, Cleveland, OH 44106, USA


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.

Size matters: how population size influences genotype-phenotype association studies in anonymized data.
J Biomed Inform 2014 Dec 16;52:243-50. Epub 2014 Jul 16.
Department of Biomedical Informatics, School of Medicine, Vanderbilt University, 2525 West End Avenue, Suite 1030, Nashville, TN 37203, USA; Department of Electrical Engineering and Computer Science, School of Engineering, Vanderbilt University, 2525 West End Avenue, Suite 1030, Nashville, TN 37203, USA.

Rare variant APOC3 R19X is associated with cardio-protective profiles in a diverse population-based survey as part of the Epidemiologic Architecture for Genes Linked to Environment Study.
Circ Cardiovasc Genet 2014 Dec 1;7(6):848-53. Epub 2014 Nov 1.
From the Institute for Computational Biology (D.C.C., P.M., J.L.H.), Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH (D.C.C., J.L.H.); Center for Human Genetics Research (L.D., R.G., K.B.-G., J.B., B.M., M.A., N.S.-B.), Department of Molecular Physiology and Biophysics (L.D.), Vanderbilt Technologies for Advanced Genomics Core Facility, Vanderbilt University, Nashville, TN (C.S., R.W., P.B., H.H.D.); Hussman Institute for Human Genomics, University of Miami, FL (M.A.P.-V., W.K.S.); and Division of Endocrinology, Diabetes, and Nutrition, Department of Medicine, University of Maryland School of Medicine, Baltimore (T.I.P.).


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.




Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.
Nat Genet 2014 Oct 31;46(10):1126-1130. Epub 2014 Aug 31.
Singapore Eye Research Institute, Singapore National Eye Centre, Singapore.

PLXNA4 is associated with Alzheimer disease and modulates tau phosphorylation.
Ann Neurol 2014 Sep 29;76(3):379-92. Epub 2014 Jul 29.
Departments of Medicine, Boston University School of Medicine, Boston, MA; Ophthalmology, Boston University School of Medicine, Boston, MA; Department of Biostatistics, Boston University School of Public Health, Boston, MA.


Genetic determinants of age-related macular degeneration in diverse populations from the PAGE study.
Invest Ophthalmol Vis Sci 2014 Sep 9;55(10):6839-50. Epub 2014 Sep 9.
Center for Human Genetics Research, Vanderbilt University, Nashville, Tennessee, United States Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, Tennessee, United States.

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.
Nat Commun 2014 Sep 22;5:4883. Epub 2014 Sep 22.
Department of Twin Research and Genetic Epidemiology, King's College London, London WC2R 2LS, UK.

Set-based joint test of interaction between SNPs in the VEGF pathway and exogenous estrogen finds association with age-related macular degeneration.
Invest Ophthalmol Vis Sci 2014 Jul 11. Epub 2014 Jul 11.
Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, 1501 NW 10 Ave., Biomedical Research Building (BRB) # 414, Miami, Florida, 33136, United States


Rare complement factor H variant associated with age-related macular degeneration in the Amish.
Invest Ophthalmol Vis Sci 2014 Jun 6;55(7):4455-60. Epub 2014 Jun 6.
Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, Tennessee, United States Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, United States.

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Am J Hum Genet 2014 May 24;94(5):677-94. Epub 2014 Apr 24.
Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 1L7, Canada; McLaughlin Centre, University of Toronto, Toronto, ON M5S 1A1, Canada. Electronic address:





Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.
Nat Genet 2013 Nov 29;45(11):1353-60. Epub 2013 Sep 29.
1] John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA. [2].

Recurrent tissue-specific mtDNA mutations are common in humans.
PLoS Genet 2013 Nov 7;9(11):e1003929. Epub 2013 Nov 7.
Center for Human Genetics Research, Department of Molecular Physiology & Biophysics, Vanderbilt University School of Medicine, Nashville, Tennessee, 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.

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.
Nat Genet 2013 Sep 11;45(9):984-94. Epub 2013 Aug 11.
The University of Queensland, Queensland Brain Institute, Brisbane, Queensland, Australia.

Putting pleiotropy and selection into context defines a new paradigm for interpreting genetic data.
Circ Cardiovasc Genet 2013 Jun 24;6(3):299-307. Epub 2013 Apr 24.
Division of Cardiovascular Medicine, Section of Cardiovascular Disease Prevention, Vanderbilt University Medical Center, Nashville, TN 37232, USA.



KIAA1462, a coronary artery disease associated gene, is a candidate gene for late onset Alzheimer disease in APOE carriers.
PLoS One 2013 12;8(12):e82194. Epub 2013 Dec 12.
Center for Human Genetics Research and Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, Tennessee, United States of America.



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.

eMERGEing progress in genomics-the first seven years.
Front Genet 2014 17;5:184. Epub 2014 Jun 17.
Department of Biochemistry and Molecular Biology, Pennsylvania State University University Park, PA, USA ; Center for Systems Genomics, Pennsylvania State University University Park, PA, USA.



Examination of candidate exonic variants for association to Alzheimer disease in the Amish.
PLoS One 2015 10;10(2):e0118043. Epub 2015 Feb 10.
Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN 37232, United States of America; Department of Epidemiology & Biostatistics and Institute for Computational Biology, Case Western Reserve University, Cleveland, OH 44106, 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.


New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics.
Hum Mol Genet 2017 01;26(2):438-453
Statistical Genetics, QIMR Berghofer Medical Research Institute, Royal Brisbane Hospital, Brisbane, Australia.

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.
Nat Genet 2017 07 29;49(7):993-1004. Epub 2017 May 29.
Singapore Eye Research Institute, Singapore.


OF