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2019

Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (Nature Genetics, (2019), 51, 3, (414-430), 10.1038/s41588-019-0358-2)

Alzheimer Disease Genetics Consortium (ADGC), The European Alzheimer’s Disease Initiative (EADI), Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE) & Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease Consortium (GERAD/PERADES), Sep 1 2019, In : Nature genetics. 51, 9, p. 1423-1424 2 p.

Research output: Contribution to journalComment/debate

Open Access
Meta-Analysis
Immunity
Alzheimer Disease
Lipids
81 Citations (Scopus)

Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Alzheimer Disease Genetics Consortium (ADGC), European Alzheimer’s Disease Initiative (EADI), Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE), & Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease Consortium (GERAD/PERADES), Mar 1 2019, In : Nature genetics. 51, 3, p. 414-430 17 p.

Research output: Contribution to journalArticle

Meta-Analysis
Immunity
Alzheimer Disease
Lipids
Serum Amyloid A Protein
1 Citation (Scopus)

Genome-wide brain DNA methylation analysis suggests epigenetic reprogramming in Parkinson disease

Young, J. I., Sivasankaran, S. K., Wang, L., Ali, A., Mehta, A., Davis, D. A., Dykxhoorn, D. M., Petito, C. K., Beecham, G. W., Martin, E. R., Mash, D. C., Pericak-Vance, M., Scott, W. K., Montine, T. J. & Vance, J. M., Aug 1 2019, In : Neurology: Genetics. 5, 4, 342.

Research output: Contribution to journalArticle

Open Access
DNA Methylation
Epigenomics
Parkinson Disease
Genome
Brain

Motivations for participation in Parkinson disease genetic research among hispanics versus non-hispanics

Nuytemans, K., Manrique, C. P., Uhlenberg, A., Scott, W. K., Cuccaro, M. L., Luca, C., Singer, C. & Vance, J. M., Jan 1 2019, In : Frontiers in Genetics. 10, JUN, 658.

Research output: Contribution to journalComment/debate

Open Access
Genetic Research
Hispanic Americans
Parkinson Disease
Research

RNA editing alterations in a multi-ethnic Alzheimer disease cohort converge on immune and endocytic molecular pathways

Gardner, O. K., Wang, L., Van Booven, D., Whitehead, P. L., Hamilton-Nelson, K. L., Adams, L. D., Starks, T. D., Hofmann, N. K., Vance, J. M., Cuccaro, M. L., Martin, E. R., Byrd, G. S., Haines, J. L., Bush, W. S., Beecham, G. W., Pericak-Vance, M. A. & Griswold, A. J., Sep 15 2019, In : Human molecular genetics. 28, 18, p. 3053-3061 9 p.

Research output: Contribution to journalArticle

RNA Editing
Alzheimer Disease
African Americans
RNA Sequence Analysis
Transcriptome

The Puerto Rico Alzheimer disease initiative (PRADI): A multisource ascertainment approach

Feliciano-Astacio, B. E., Celis, K., Ramos, J., Rajabli, F., Adams, L. D., Rodriguez, A., Rodriguez, V., Bussies, P. L., Sierra, C., Manrique, P., Mena, P. R., Grana, A., Prough, M., Hamilton-Nelson, K. L., Feliciano, N., Chinea, A., Acosta, H., McCauley, J. L., Vance, J. M., Beecham, G. W. & 2 others, Pericak-Vance, M. A. & Cuccaro, M. L., Jan 1 2019, In : Frontiers in Genetics. 10, JUN, 538.

Research output: Contribution to journalArticle

Open Access
Puerto Rico
Alzheimer Disease
Hispanic Americans
Precision Medicine
Genetic Research
2018

2017 year in review and message from the editors to our reviewers

Pulst, S. M., Johnson, N. E., Pandolfo, M., Roos, R. P. & Vance, J. M., Feb 1 2018, In : Neurology: Genetics. 4, 1, e221.

Research output: Contribution to journalReview article

7 Citations (Scopus)

Ancestral origin of ApoE ε4 Alzheimer disease risk in Puerto Rican and African American populations

Rajabli, F., Feliciano, B. E., Celis, K., Hamilton-Nelson, K. L., Whitehead, P. L., Adams, L. D., Bussies, P. L., Manrique, C. P., Rodriguez, A., Rodriguez, V., Starks, T., Byfield, G. E., Sierra Lopez, C. B., McCauley, J. L., Acosta, H., Chinea, A., Kunkle, B. W., Reitz, C., Farrer, L. A., Schellenberg, G. D. & 8 others, Vardarajan, B. N., Vance, J. M., Cuccaro, M., Martin, E. R., Haines, J. L., Byrd, G. S., Beecham, G. W. & Pericak-Vance, M. A., Dec 1 2018, In : PLoS Genetics. 14, 12, e1007791.

Research output: Contribution to journalArticle

Open Access
African American
Apolipoproteins E
African Americans
Alzheimer disease
ancestry
13 Citations (Scopus)

Convergent Pathways in Idiopathic Autism Revealed by Time Course Transcriptomic Analysis of Patient-Derived Neurons

Derosa, B. A., El Hokayem, J., Artimovich, E., Garcia-Serje, C., Phillips, A. W., Van Booven, D., Nestor, J. E., Wang, L., Cuccaro, M. L., Vance, J. M., Pericak-Vance, M. A., Cukier, H. N., Nestor, M. W. & Dykxhoorn, D. M., Dec 1 2018, In : Scientific Reports. 8, 1, 8423.

Research output: Contribution to journalArticle

Autistic Disorder
Neurons
Induced Pluripotent Stem Cells
Gene Expression Profiling
Genes
58 Citations (Scopus)

Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease

Hui, K. Y., Fernandez-Hernandez, H., Hu, J., Schaffner, A., Pankratz, N., Hsu, N. Y., Chuang, L. S., Carmi, S., Villaverde, N., Li, X., Rivas, M., Levine, A. P., Bao, X., Labrias, P. R., Haritunians, T., Ruane, D., Gettler, K., Chen, E., Li, D., Schiff, E. R. & 31 others, Pontikos, N., Barzilai, N., Brant, S. R., Bressman, S., Cheifetz, A. S., Clark, L. N., Daly, M. J., Desnick, R. J., Duerr, R. H., Katz, S., Lencz, T., Myers, R. H., Ostrer, H., Ozelius, L., Payami, H., Peter, Y., Rioux, J. D., Segal, A. W., Scott, W. K., Silverberg, M. S., Vance, J. M., Ubarretxena-Belandia, I., Foroud, T., Atzmon, G., Pe'er, I., Ioannou, Y., McGovern, D. P. B., Yue, Z., Schadt, E. E., Cho, J. H. & Peter, I., Jan 10 2018, In : Science Translational Medicine. 10, 423, eaai7795.

Research output: Contribution to journalArticle

Crohn Disease
Parkinson Disease
Genes
Phosphotransferases
Haplotypes

Variants in chondroitin sulfate metabolism genes in thrombotic storm

Nuytemans, K., Ortel, T. L., Gomez, L., Hofmann, N., Alves, N., Dueker, N., Beecham, A., Whitehead, P., Hahn Estabrooks, S., Kitchens, C. S., Erkan, D., Brandão, L. R., James, A. H., Kulkarni, R., Manco-Johnson, M. J., Pericak-Vance, M. A. & Vance, J. M., Jan 1 2018, In : Thrombosis Research. 161, p. 43-51 9 p.

Research output: Contribution to journalArticle

Chondroitin Sulfates
Genes
Genome
Exome
Phenotype
2017
7 Citations (Scopus)

Early-onset Alzheimer disease and candidate risk genes involved in endolysosomal transport

Kunkle, B. W., Vardarajan, B. N., Naj, A. C., Whitehead, P. L., Rolati, S., Slifer, S., Carney, R. M., Cuccaro, M., Vance, J. M., Gilbert, J., Wang, L. S., Farrer, L. A., Reitz, C., Haines, J. L., Beecham, G. W., Martin, E. R., Schellenberg, G. D., Mayeux, R. P. & Pericak-Vance, M. A., Sep 1 2017, In : JAMA Neurology. 74, 9, p. 1113-1122 10 p.

Research output: Contribution to journalArticle

Alzheimer Disease
Genes
Odds Ratio
National Institute of Neurological Disorders and Stroke
Communication Disorders
1 Citation (Scopus)

Generation of disease-specific autopsy-confirmed iPSCs lines from postmortem isolated Peripheral Blood Mononuclear Cells

Belle, K., Shabazz, F. S., Nuytemans, K., Davis, D. A., Ali, A., Young, J., Scott, W. K., Mash, D. C., Vance, J. M. & Dykxhoorn, D. M., Jan 10 2017, In : Neuroscience Letters. 637, p. 201-206 6 p.

Research output: Contribution to journalArticle

Induced Pluripotent Stem Cells
Autopsy
Blood Cells
Cell Line
Cadaver
4 Citations (Scopus)

Targeted sequencing of ABCA7 identifies splicing, stop-gain and intronic risk variants for Alzheimer disease

Kunkle, B. W., Carney, R. M., Kohli, M. A., Naj, A. C., Hamilton-Nelson, K. L., Whitehead, P. L., Wang, L., Lang, R., Cuccaro, M., Vance, J. M., Byrd, G. S., Beecham, G. W., Gilbert, J., Martin, E. R., Haines, J. L. & Pericak-Vance, M. A., May 10 2017, In : Neuroscience Letters. 649, p. 124-129 6 p.

Research output: Contribution to journalArticle

Alzheimer Disease
African Americans
Population
Genes
3' Untranslated Regions
2 Citations (Scopus)

Transcriptomic analysis of synovial extracellular RNA following knee trauma: A pilot study

Griswold, A., Perez, J., Nuytemans, K., Strong, T. A., Wang, L., Vance, D. D., Ennis, H., Smith, M. K., Best, T., Vance, J. M., Pericak-Vance, M. A. & Kaplan, L., Jan 1 2017, (Accepted/In press) In : Journal of Orthopaedic Research.

Research output: Contribution to journalArticle

Knee
RNA
Wounds and Injuries
Knee Injuries
Synovial Fluid
2016

2016 in review and message from the Editors to Our Reviewers

Pulst, S. M., Johnson, N. E., Durr, A., Pandolfo, M., Roos, R. P. & Vance, J. M., Jan 1 2016, In : Neurology: Genetics. 3, 1, e132.

Research output: Contribution to journalReview article

19 Citations (Scopus)

ABCA7 frameshift deletion associated with Alzheimer disease in African Americans

Cukier, H. N., Kunkle, B. W., Vardarajan, B. N., Rolati, S., Hamilton-Nelson, K. L., Kohli, M. A., Whitehead, P. L., Dombroski, B. A., Van Booven, D., Lang, R., Dykxhoorn, D. M., Farrer, L. A., Cuccaro, M., Vance, J. M., Gilbert, J., Beecham, G. W., Martin, E. R., Carney, R. M., Mayeux, R., Schellenberg, G. D. & 3 others, Byrd, G. S., Haines, J. L. & Pericak-Vance, M. A., Jun 1 2016, In : Neurology: Genetics. 2, 3, e79.

Research output: Contribution to journalArticle

African Americans
Alzheimer Disease
Exome
Alleles
Odds Ratio
4 Citations (Scopus)

DNA variants in CACNA1C modify Parkinson disease risk only when Vitamin D level is deficient

Wang, L., Maldonado, L., Beecham, G. W., Martin, E. R., Evatt, M. L., Ritchie, J. C., Haines, J. L., Zabetian, C. P., Payami, H., Pericak-Vance, M. A., Vance, J. M. & Scott, W. K., Jun 1 2016, In : Neurology: Genetics. 2, 3, e72.

Research output: Contribution to journalArticle

Vitamin D Deficiency
Vitamin D
Parkinson Disease
Single Nucleotide Polymorphism
DNA
10 Citations (Scopus)

Genetic Variants of Microtubule Actin Cross-linking Factor 1 (MACF1) Confer Risk for Parkinson’s Disease

Wang, X., Li, N., Xiong, N., You, Q., Li, J., Yu, J., Qing, H., Wang, T., Cordell, H. J., Isacson, O., Vance, J. M., Martin, E. R., Zhao, Y., Cohen, B. M., Buttner, E. A. & Lin, Z., Mar 28 2016, (Accepted/In press) In : Molecular Neurobiology. p. 1-11 11 p.

Research output: Contribution to journalArticle

Microtubules
Parkinson Disease
Actins
Dopaminergic Neurons
Protein Isoforms
21 Citations (Scopus)

GWAS analysis implicates NF-κB-mediated induction of inflammatory T cells in multiple sclerosis

Hussman, J. P., Beecham, A. H., Schmidt, M., Martin, E. R., McCauley, J. L., Vance, J. M., Haines, J. L. & Pericak-Vance, M. A., Jun 9 2016, (Accepted/In press) In : Genes and Immunity.

Research output: Contribution to journalArticle

Genome-Wide Association Study
Multiple Sclerosis
T-Lymphocytes
Genes
Noise
4 Citations (Scopus)

hVMAT2: A Target of Individualized Medication for Parkinson’s Disease

Xiong, N., Li, N., Martin, E. R., Yu, J., Li, J., Liu, J., Lee, D. Y. W., Isacson, O., Vance, J. M., Qing, H., Wang, T. & Lin, Z., May 2 2016, (Accepted/In press) In : Neurotherapeutics. p. 1-12 12 p.

Research output: Contribution to journalArticle

Vesicular Monoamine Transport Proteins
Parkinson Disease
Meta-Analysis
Poisons
Pharmacogenetics
88 Citations (Scopus)

Identification of TMEM230 mutations in familial Parkinson's disease

Deng, H. X., Shi, Y., Yang, Y., Ahmeti, K. B., Miller, N., Huang, C., Cheng, L., Zhai, H., Deng, S., Nuytemans, K., Corbett, N. J., Kim, M. J., Deng, H., Tang, B., Yang, Z., Xu, Y., Chan, P., Huang, B., Gao, X. P., Song, Z. & 14 others, Liu, Z., Fecto, F., Siddique, N., Foroud, T., Jankovic, J., Ghetti, B., Nicholson, D. A., Krainc, D., Melen, O., Vance, J. M., Pericak-Vance, M. A., Ma, Y. C., Rajput, A. H. & Siddique, T., Jul 1 2016, In : Nature Genetics. 48, 7, p. 733-739 7 p.

Research output: Contribution to journalArticle

Parkinson Disease
Mutation
Synaptic Vesicles
Chromosomes, Human, Pair 20
Neurons
10 Citations (Scopus)

Overlap between Parkinson disease and Alzheimer disease in ABCA7 functional variants

Nuytemans, K., Maldonado, L., Ali, A., John-Williams, K., Beecham, G. W., Martin, E. R., Scott, W. K. & Vance, J. M., Feb 1 2016, In : Neurology: Genetics. 2, 1, e44.

Research output: Contribution to journalArticle

ATP-Binding Cassette Transporters
Parkinson Disease
Alzheimer Disease
Exome
Odds Ratio
1 Citation (Scopus)

Regional Differential Genetic Response of Human Articular Cartilage to Impact Injury

Vernon, L. L., Vance, D. D., Wang, L., Rampersaud, E., Vance, J. M., Pericak-Vance, M. A., Huang, C-Y. & Kaplan, L., Apr 1 2016, In : Cartilage. 7, 2, p. 163-173 11 p.

Research output: Contribution to journalArticle

Medical Genetics
Cartilage
Articular Cartilage
Knee
Bearings (structural)
18 Citations (Scopus)

Segregation of a rare TTC3 variant in an extended family with late-onset Alzheimer disease

Kohli, M. A., Cukier, H. N., Hamilton-Nelson, K. L., Rolati, S., Kunkle, B. W., Whitehead, P. L., Zuchner, S. L., Farrer, L. A., Martin, E. R., Beecham, G. W., Haines, J. L., Vance, J. M., Cuccaro, M., Gilbert, J., Schellenberg, G. D., Carney, R. M. & Pericak-Vance, M. A., Feb 1 2016, In : Neurology: Genetics. 2, 1, e41.

Research output: Contribution to journalArticle

Alzheimer Disease
Exome
Genes
Genetic Predisposition to Disease
Genome