Publications

Ultra-rare mutations insegregate in Caribbean Hispanic families with Alzheimer disease.
Neurol Genet 2017 Oct 24;3(5):e178. Epub 2017 Aug 24.
Taub Institute for Research on Alzheimer's Disease and the Aging Brain (B.N.V., G.T., R. Lefort, P.L.D.J., S.B., D.R.-D., J.H.L., R.C., R. Lantigua, R.M.); Gertrude H. Sergievsky Center (B.N.V., G.T., S.B., D.R.-D., J.H.L., R.C., R.M.); Department of Neurology (P.L.D.J., S.B., R.M.), Department of Psychiatry (R.M.), Department of Systems Biology (B.N.V.), Department of Medicine (R. Lantigua), and Department of Pathology and Cell Biology (R. Lefort, P.L.N.), College of Physicians and Surgeons, Columbia University, New York Presbyterian Hospital; Department of Epidemiology (J.H.L., R.M.), School of Public Health, Columbia University, New York; Tanz Centre for Research in Neurodegenerative Diseases (E.R., P.S.G.-H.) and Department of Medicine (E.R., P.S.G.-H.), University of Toronto, Krembil Discovery Tower, ON, Canada; Department of Clinical Neurosciences (P.S.G.-H.), Cambridge Institute for Medical Research, University of Cambridge, UK; Rush Alzheimer's Disease Center (L.Y., D.A.B.), Rush University Medical Center, Chicago, IL; Program in Medical and Population Genetics (P.L.D.J.), Broad Institute, Cambridge, MA; and School of Medicine (M.M.), Mother and Teacher Pontifical Catholic University, Santiago, Dominican Republic.


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:

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.

mutations in early- and late-onset Alzheimer disease.
Neurol Genet 2016 Dec 26;2(6):e116. Epub 2016 Oct 26.
John P. Hussman Institute for Human Genomics (M.L.C., R.M.C., B.W.K., P.L.W., H.N.C., M.A.P.-V.), University of Miami Miller School of Medicine, FL; Mental Health & Behavioral Science Service (R.M.C.), Bruce W. Carter VA Medical Center, 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; Tanz Centre for Research in Neurodegenerative Diseases and Department of Medicine (Y.Z., C.B., P.S.G.-H.), University of Toronto, Ontario, Canada; Cambridge Institute for Medical Research (P.S.G.-H.), Department of Clinical Neurosciences, University of Cambridge, United Kingdom; and Dr. John T. Macdonald Foundation Department of Human Genetics (M.L.C., M.A.P.-V.), Miller School of Medicine, University of Miami, FL.

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 variants associated with susceptibility to psychosis in late-onset Alzheimer's disease families.
Neurobiol Aging 2015 Nov 15;36(11):3116.e9-3116.e16. Epub 2015 Aug 15.
Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University Medical Center and New York Presbyterian Hospital, New York, NY, USA; Gertrude H. Sergievsky Center, Columbia University Medical Center and New York Presbyterian Hospital, New York, NY, USA; Department of Neurology, Columbia University Medical Center and New York Presbyterian Hospital, New York, NY, USA. Electronic address:


Inbreeding among Caribbean Hispanics from the Dominican Republic and its effects on risk of Alzheimer disease.
Genet Med 2015 Aug 13;17(8):639-43. Epub 2014 Nov 13.
1] The Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA [2] The Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA [3] Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York, USA [4] Department of Neurology, Columbia University, New York, New York, USA [5] Department of Psychiatry, School of Public Health, Columbia University, New York, New York, USA.

F-box/LRR-repeat protein 7 is genetically associated with Alzheimer's disease.
Ann Clin Transl Neurol 2015 Aug 18;2(8):810-20. Epub 2015 Jun 18.
The Taub Institute for Research on Alzheimer's Disease and the Aging Brain, School of Public Health, Columbia University New York, New York ; The Gertrude H. Sergievsky Center, School of Public Health, Columbia University New York, New York ; Department of Neurology, Columbia University New York, New York ; Department of Psychiatry, School of Public Health, Columbia University New York, New York ; Department of Epidemiology, School of Public Health, Columbia University New York, New York.

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.

Search for age-related macular degeneration risk variants in Alzheimer disease genes and pathways.
Neurobiol Aging 2014 Jun 19;35(6):1510.e7-18. Epub 2013 Dec 19.
Department of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, MA, USA; Department of Neurology, Boston University School of Medicine, 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; Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA. Electronic address:



BCL11A is a major HbF quantitative trait locus in three different populations with beta-hemoglobinopathies.
Blood Cells Mol Dis 2008 Nov-Dec;41(3):255-258. Epub 2008 Aug 8.
Division of Hematology/Oncology, Center of Excellence in Sickle Cell Disease, Department of Medicine, Boston University School of Medicine, Boston, Massachusetts, 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.

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.

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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