Publications

The Alzheimer's Disease Sequencing Project: Study design and sample selection.
Neurol Genet 2017 Oct 13;3(5):e194. Epub 2017 Oct 13.
John P. Hussman Institute for Human Genomics (G.W.B., E.R.M., M.A.P.-V.) and Dr. John T. Macdonald Foundation Department of Human Genetics (G.W.B., E.R.M., M.A.P.-V.), Miller School of Medicine, University of Miami, FL; Cardiovascular Health Research Unit (J.C.B.), Department of Medicine, Cardiovascular Health Research Unit (B.M.P.), Departments of Medicine, Epidemiology, Health Services, Department of Biostatistics (E.W.), and Division of Medical Genetics (E.W.), Department of Medicine, University of Washington, Seattle; Department of Biostatistics (S.-H.C., A.D., L.A.F.), Boston University School of Public Health, MA; The Framingham Heart Study (A.D., S.S.), MA; Department of Neurology (A.D., L.A.F., S.S.), Boston University School of Medicine, MA; Department of Epidemiology (C.M.v.D), Erasmus MC, Rotterdam, Netherlands; Brown Foundation Institute of Molecular Medicine (M.F.) and Human Genetics Center (M.F.), University of Texas Health Science Center, Houston; The Eli and Edythe L. Broad Institute of Massachusetts Institute of Technology (S.B.G.), Cambridge; Harvard University (S.B.G.), Cambridge, MA; The McDonnell Genome Institute (D.C.K., D.E.L.) and Department of Genetics (D.E.L.), Washington University, St. Louis, MO; Department of Biostatistics and Epidemiology (A.C.N.) and Perelman School of Medicine (G.S.), University of Pennsylvania, Philadelphia; Group Health Research Institute (B.M.P.), Group Health Cooperative, Seattle, WA; Human Genome Sequencing Center (W.S., E.B.), Baylor College of Medicine, Houston, TX; Department of Epidemiology and Biostatistics (W.S.B., J.L.H.), Case Western Reserve University, Cleveland, OH; Department of Medical and Molecular Genetics (T.M.F.), Indiana University School of Medicine, Indianapolis; Department of Medicine (Biomedical Genetics) (L.A.F.), Department of Ophthalmology (L.A.F.), and Department of Epidemiology (L.A.F.), Boston University School of Medicine and Public Health, MA; Department of Neuroscience (A.G.), Icahn School of Medicine at Mount Sinai, New York, NY; Human Genetics Center (E.B.), UT Health School of Public Health, Houston, TX; Taub Institute for Research on Alzheimer's Disease and the Aging Brain (R.M.) and Gertrude H. Sergievsky Center (R.M.), Columbia University Medical Center, New York, NY; Department of Neurology (R.M.), Columbia University Medical Center and New York Presbyterian Hospital, NY; and Department of Epidemiology (R.M.), Mailman School of Public Health, Columbia University, New York, NY.


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:

Genetic Characterization and Influence on Inflammatory Bowel Disease Expression in a Diverse Hispanic South Florida Cohort.
Clin Transl Gastroenterol 2017 Apr 13;8(4):e87. Epub 2017 Apr 13.
John P. Hussman Institute for Human Genomics, 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.

The executive prominent/memory prominent spectrum in Alzheimer's disease is highly heritable.
Neurobiol Aging 2016 May 21;41:115-121. Epub 2016 Feb 21.
Division of General Internal Medicine, Department of Medicine, University of Washington, Seattle, WA, USA. 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:

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.

Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2.
Hum Mol Genet 2014 Oct 15;23(19):5171-87. Epub 2014 May 15.
Department of Human Genetics Department of Neurology and Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, MI, USA



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.


Inflammation, stem cells and atherosclerosis genetics.
Curr Opin Mol Ther 2010 Dec;12(6):712-23
University of Miami Leonard M Miller School of Medicine, Department of Medicine, Rosenstiel Medical Science Building, 1600 NW 10th Avenue, Miami, FL 33136, USA.

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.



The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer's disease: a meta-analysis study.
J Alzheimers Dis 2010 ;22(1):247-55
Unité INSERM 744, Institut Pasteur de Lille BP 245,1, rue du professeur Calmette, F59019Lille cedex, France.

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.

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.
Nat Genet 2017 09 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.

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