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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
2015
10 Citations (Scopus)

Genome-wide linkage analyses of non-Hispanic white families identify novel loci for familial late-onset Alzheimer's disease

Kunkle, B. W., Jaworski, J., Barral, S., Vardarajan, B., Beecham, G. W., Martin, E. R., Cantwell, L. S., Partch, A., Bird, T. D., Raskind, W. H., Destefano, A. L., Carney, R. M., Cuccaro, M., Vance, J. M., Farrer, L. A., Goate, A. M., Foroud, T., Mayeux, R. P., Schellenberg, G. D., Haines, J. L. & 1 others, Pericak-Vance, M. A., 2015, (Accepted/In press) In : Alzheimer's and Dementia.

Research output: Contribution to journalArticle

Alzheimer Disease
Genome
Penetrance
Multigene Family
MicroRNAs
9 Citations (Scopus)

Global and local ancestry in African-Americans: Implications for Alzheimer's disease risk

Hohman, T. J., Cooke-Bailey, J. N., Reitz, C., Jun, G., Naj, A., Beecham, G. W., Liu, Z., Carney, R. M., Vance, J. M., Cuccaro, M., Rajbhandary, R., Vardarajan, B. N., Wang, L. S., Valladares, O., Lin, C. F., Larson, E. B., Graff-Radford, N. R., Evans, D., De Jager, P. L., Crane, P. K. & 33 others, Buxbaum, J. D., Murrell, J. R., Raj, T., Ertekin-Taner, N., Logue, M. W., Baldwin, C. T., Green, R. C., Barnes, L. L., Cantwell, L. B., Fallin, M. D., Go, R. C. P., Griffith, P., Obisesan, T. O., Manly, J. J., Lunetta, K. L., Kamboh, M. I., Lopez, O. L., Bennett, D. A., Hardy, J., Hendrie, H. C., Hall, K. S., Goate, A. M., Lang, R., Byrd, G. S., Kukull, W. A., Foroud, T. M., Farrer, L. A., Martin, E. R., Pericak-Vance, M. A., Schellenberg, G. D., Mayeux, R., Haines, J. L. & Thornton-Wells, T. A., 2015, (Accepted/In press) In : Alzheimer's and Dementia.

Research output: Contribution to journalArticle

African Americans
Alzheimer Disease
Genome-Wide Association Study
10 Citations (Scopus)

HVGAT-mCherry: A novel molecular tool for analysis of GABAergic neurons derived from human pluripotent stem cells

DeRosa, B. A., Belle, K. C., Thomas, B. J., Cukier, H. N., Pericak-Vance, M. A., Vance, J. M. & Dykxhoorn, D. M., Sep 1 2015, In : Molecular and Cellular Neuroscience. 68, p. 244-257 14 p., 3018.

Research output: Contribution to journalArticle

GABAergic Neurons
Pluripotent Stem Cells
Induced Pluripotent Stem Cells
Neurological Models
High-Throughput Screening Assays
28 Citations (Scopus)

PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease

Beecham, G. W., Dickson, D. W., Scott, W. K., Martin, E. R., Schellenberg, G., Nuytemans, K., Larson, E. B., Buxbaum, J. D., Trojanowski, J. Q., Van Deerlin, V. M., Hurtig, H. I., Mash, D. C., Beach, T. G., Troncoso, J. C., Pletnikova, O., Frosch, M. P., Ghetti, B., Foroud, T. M., Honig, L. S., Marder, K. & 12 others, Vonsattel, J. P., Goldman, S. M., Vinters, H. V., Ross, O. A., Wszolek, Z. K., Wang, L., Dykxhoorn, D. M., Pericak-Vance, M. A., Montine, T. J., Leverenz, J. B., Dawson, T. M. & Vance, J. M., Mar 10 2015, In : Neurology. 84, 10, p. 972-980 9 p.

Research output: Contribution to journalArticle

Parkinson Disease
Genome-Wide Association Study
Haplotypes
Genetic Heterogeneity
Chromosomes, Human, Pair 1
27 Citations (Scopus)

Vitamin D from different sources is inversely associated with Parkinson disease

Wang, L., Evatt, M. L., Maldonado, L. G., Perry, W. R., Ritchie, J. C., Beecham, G. W., Martin, E. R., Haines, J. L., Pericak-Vance, M. A., Vance, J. M. & Scott, W. K., Jan 1 2015, (Accepted/In press) In : Movement Disorders.

Research output: Contribution to journalArticle

Vitamin D
Parkinson Disease
Sunlight
Vitamin D Deficiency
Odds Ratio
2014
18 Citations (Scopus)

Absence of C9ORF72 expanded or intermediate repeats in autopsy-confirmed Parkinson's disease

Nuytemans, K., Inchausti, V., Beecham, G. W., Wang, L., Dickson, D. W., Trojanowski, J. Q., Lee, V. M. Y., Mash, D. C., Frosch, M. P., Foroud, T. M., Honig, L. S., Montine, T. J., Dawson, T. M., Martin, E. R., Scott, W. K. & Vance, J. M., Jan 1 2014, In : Movement Disorders. 29, 6, p. 827-830 4 p.

Research output: Contribution to journalArticle

Parkinson Disease
Autopsy
Haplotypes
Parkinsonian Disorders
Neurodegenerative Diseases
1 Citation (Scopus)

A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N)

Mclaughlin, H. M., Sakaguchi, R., Giblin, W., Wilson, T. E., Biesecker, L., Lupski, J. R., Talbot, K., Vance, J. M., Zuchner, S. L., Lee, Y. C., Kennerson, M., Hou, Y. M., Nicholson, G. & Antonellis, A., Jan 1 2014, In : Human Mutation. 35, 4, p. 512-512 1 p.

Research output: Contribution to journalArticle

Alanine-tRNA Ligase
Charcot-Marie-Tooth Disease
Mutation
10 Citations (Scopus)

Detecting genetic interactions in pathway-based genome-wide association studies

Huang, A., Martin, E. R., Vance, J. M. & Cai, X., Jan 1 2014, In : Genetic Epidemiology. 38, 4, p. 300-309 10 p.

Research output: Contribution to journalArticle

Genome-Wide Association Study
Bayes Theorem
Bile Acids and Salts
Logistic Models
Statistical Models
7 Citations (Scopus)

Glutamate Receptor Gene GRIN2A, Coffee, and Parkinson Disease

Hamza, T. H., Hill-Burns, E. M., Scott, W. K., Vance, J. M., Factor, S. A., Zabetian, C. P. & Payami, H., Jan 1 2014, In : PLoS Genetics. 10, 11

Research output: Contribution to journalArticle

Gene-Environment Interaction
genotype-environment interaction
Parkinson disease
Genome-Wide Association Study
Coffee
5 Citations (Scopus)
Diphosphates
Zebrafish
Morpholinos
Fish
Fishes
3 Citations (Scopus)
Dolichol
Retinal Degeneration
Retinitis Pigmentosa
Diphosphates
Glycosylation
2013
59 Citations (Scopus)

A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo

Vester, A., Velez-Ruiz, G., McLaughlin, H. M., Nisc Comparative Sequencing Program, C. S. P., Lupski, J. R., Talbot, K., Vance, J. M., Zuchner, S. L., Roda, R. H., Fischbeck, K. H., Biesecker, L. G., Nicholson, G., Beg, A. A. & Antonellis, A., Jan 1 2013, In : Human Mutation. 34, 1, p. 191-199 9 p.

Research output: Contribution to journalArticle

Histidine-tRNA Ligase
Amino Acyl-tRNA Synthetases
Peripheral Nervous System Diseases
Genes
Alleles
46 Citations (Scopus)

C9orf72 intermediate repeat copies are a significant risk factor for parkinson disease

Nuytemans, K., Bademci, G., Kohli, M. M., Beecham, G. W., Wang, L., Young, J., Nahab, F., Martin, E. R., Gilbert, J., Benatar, M. G., Haines, J. L., Scott, W. K., Zuchner, S. L., Pericak-Vance, M. A. & Vance, J. M., Sep 1 2013, In : Annals of Human Genetics. 77, 5, p. 351-363 13 p.

Research output: Contribution to journalArticle

Parkinson Disease
Essential Tremor
Parkinsonian Disorders
Neurodegenerative Diseases
Polymerase Chain Reaction
4 Citations (Scopus)

Genomic Signatures of a Global Fitness Index in a Multi-Ethnic Cohort of Women

Rampersaud, E., Nathanson, L., Farmer, J., Meshbane, K., Belton, R. L., Dressen, A., Cuccaro, M., Musto, A., Daunert, S., Deo, S. K., Hudson, N., Vance, J. M., Seo, D. M., Mendez, A. J., Dykxhoorn, D. M., Pericak-Vance, M. A. & Goldschmidt-Clermont, P., Mar 1 2013, In : Annals of Human Genetics. 77, 2, p. 147-157 11 p.

Research output: Contribution to journalArticle

Genes
Exercise
Sedentary Lifestyle
Messenger RNA
Oxidative Phosphorylation
12 Citations (Scopus)
Parkinson Disease
Exons
Gene Duplication
Comparative Genomic Hybridization
Gene Frequency
50 Citations (Scopus)

Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease

Nuytemans, K., Bademci, G., Inchausti, V., Dressen, A., Kinnamon, D. D., Mehta, A., Wang, L., Zuchner, S. L., Beecham, G. W., Martin, E. R., Scott, W. K. & Vance, J. M., Mar 12 2013, In : Neurology. 80, 11, p. 982-989 8 p.

Research output: Contribution to journalArticle

Eukaryotic Initiation Factor-4G
Exome
Protein Transport
Parkinson Disease
Genes
2012
54 Citations (Scopus)

A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with charcot-marie-tooth disease type 2N (CMT2N)

McLaughlin, H. M., Sakaguchi, R., Giblin, W., Wilson, T. E., Biesecker, L., Lupski, J. R., Talbot, K., Vance, J. M., Zuchner, S. L., Lee, Y. C., Kennerson, M., Hou, Y. M., Nicholson, G. & Antonellis, A., Jan 1 2012, In : Human Mutation. 33, 1, p. 244-253 10 p.

Research output: Contribution to journalArticle

Alanine-tRNA Ligase
Charcot-Marie-Tooth Disease
Mutation
Tooth
Peripheral Nervous System Diseases
12 Citations (Scopus)

Clinical causes and treatment of the thrombotic storm

Ortel, T. L., Kitchens, C. S., Erkan, D., Brandão, L. R., Hahn, S., James, A. H., Kulkarni, R., Manco-Johnson, M. J., Pericak-Vance, M. A. & Vance, J. M., Dec 1 2012, In : Expert Review of Hematology. 5, 6, p. 553-559 7 p.

Research output: Contribution to journalArticle

Phenotype
Intracranial Sinus Thrombosis
Antiphospholipid Antibodies
Antiphospholipid Syndrome
Immunomodulation
352 Citations (Scopus)

Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDgene database

Lill, C. M., Roehr, J. T., McQueen, M. B., Kavvoura, F. K., Bagade, S., Schjeide, B. M. M., Schjeide, L. M., Meissner, E., Zauft, U., Allen, N. C., Liu, T., Schilling, M., Anderson, K. J., Beecham, G. W., Berg, D., Biernacka, J. M., Brice, A., DeStefano, A. L., Do, C. B., Eriksson, N. & 34 others, Factor, S. A., Farrer, M. J., Foroud, T., Gasser, T., Hamza, T., Hardy, J. A., Heutink, P., Hill-Burns, E. M., Klein, C., Latourelle, J. C., Maraganore, D. M., Martin, E. R., Martinez, M., Myers, R. H., Nalls, M. A., Pankratz, N., Payami, H., Satake, W., Scott, W. K., Sharma, M., Singleton, A. B., Stefansson, K., Toda, T., Tung, J. Y., Vance, J. M., Wood, N. W., Zabetian, C. P., Young, P., Tanzi, R. E., Khoury, M. J., Zipp, F., Lehrach, H., Ioannidis, J. P. A. & Bertram, L., Mar 1 2012, In : PLoS Genetics. 8, 3, e1002548.

Research output: Contribution to journalArticle

Parkinson disease
Parkinson Disease
Meta-Analysis
Genome-Wide Association Study
genome
43 Citations (Scopus)

Derivation of autism spectrum disorder-specific induced pluripotent stem cells from peripheral blood mononuclear cells

DeRosa, B. A., Van Baaren, J. M., Dubey, G. K., Lee, J. M., Cuccaro, M., Vance, J. M., Pericak-Vance, M. A. & Dykxhoorn, D. M., May 10 2012, In : Neuroscience Letters. 516, 1, p. 9-14 6 p.

Research output: Contribution to journalArticle

Induced Pluripotent Stem Cells
Blood Cells
Stem Cells
Biopsy
Skin
40 Citations (Scopus)

Gene expression profiles in Parkinson disease prefrontal cortex implicate FOXO1 and genes under its transcriptional regulation

Dumitriu, A., Latourelle, J. C., Hadzi, T. C., Pankratz, N., Garza, D., Miller, J. P., Vance, J. M., Foroud, T., Beach, T. G. & Myers, R. H., Jun 1 2012, In : PLoS Genetics. 8, 6, e1002794.

Research output: Contribution to journalArticle

Parkinson disease
Prefrontal Cortex
Transcriptome
gene expression
Parkinson Disease
151 Citations (Scopus)

Meta-analysis of Parkinson's Disease: Identification of a novel locus, RIT2

Pankratz, N., Beecham, G. W., Destefano, A. L., Dawson, T. M., Doheny, K. F., Factor, S. A., Hamza, T. H., Hung, A. Y., Hyman, B. T., Ivinson, A. J., Krainc, D., Latourelle, J. C., Clark, L. N., Marder, K., Martin, E. R., Mayeux, R., Ross, O. A., Scherzer, C. R., Simon, D. K., Tanner, C. & 7 others, Vance, J. M., Wszolek, Z. K., Zabetian, C. P., Myers, R. H., Payami, H., Scott, W. K. & Foroud, T., Mar 1 2012, In : Annals of Neurology. 71, 3, p. 370-384 15 p.

Research output: Contribution to journalArticle

Parkinson Disease
Meta-Analysis
Odds Ratio
Disease Susceptibility
Single Nucleotide Polymorphism
89 Citations (Scopus)

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

Montenegro, G., Rebelo, A. P., Connell, J., Allison, R., Babalini, C., D'Aloia, M., Montieri, P., Schüle, R., Ishiura, H., Price, J., Strickland, A., Gonzalez, M. A., Baumbach-Reardon, L., Deconinck, T., Huang, J., Bernardi, G., Vance, J. M., Rogers, M. T., Tsuji, S., De Jonghe, P. & 5 others, Pericak-Vance, M. A., Schöls, L., Orlacchio, A., Reid, E. & Zuchner, S. L., Feb 1 2012, In : Journal of Clinical Investigation. 122, 2, p. 538-544 7 p.

Research output: Contribution to journalArticle

Hereditary Spastic Paraplegia
Axons
Mutation
Proteins
Paraplegia
59 Citations (Scopus)
Cell Aging
Atherosclerosis
Endothelial Cells
Single Nucleotide Polymorphism
Coronary Artery Disease
12 Citations (Scopus)

Tyrosine hydroxylase gene: Another piece of the genetic puzzle of Parkinson's disease

Bademci, G., Vance, J. M. & Wang, L., Jun 1 2012, In : CNS and Neurological Disorders - Drug Targets. 11, 4, p. 469-481 13 p.

Research output: Contribution to journalArticle

Tyrosine 3-Monooxygenase
Parkinson Disease
Genes
Genome-Wide Association Study
Parkinsonian Disorders