Find Research Outputs

Search concepts
Selected Filters

    Publication Year

    2020
    2019
    2018
    2017
    2016
    2015
    2014
    2013
    2012
    2011

    Author

    Margaret A Pericak-Vance
2019
1 Citation (Scopus)

AMISH EYE STUDY: Baseline Spectral Domain Optical Coherence Tomography Characteristics of Age-Related Macular Degeneration

Nittala, M. G., Song, Y. E., Sardell, R., Adams, L. D., Pan, S., Velaga, S. B., Horst, V., Dana, D., Caywood, L., Laux, R., Fuzzell, D., Fuzzell, S., Scott, W. K., Cooke Bailey, J. N., Igo, R. P., Haines, J., Pericak-Vance, M. A., Sadda, S. V. R. & Stambolian, D., Aug 1 2019, In : Retina (Philadelphia, Pa.). 39, 8, p. 1540-1550 11 p.

Research output: Contribution to journalArticle

Optical Coherence Tomography
Macular Degeneration
Amish
Choroid
Color
2 Citations (Scopus)

Analysis of Whole-Exome Sequencing Data for Alzheimer Disease Stratified by APOE Genotype

Ma, Y., Jun, G. R., Zhang, X., Chung, J., Naj, A. C., Chen, Y., Bellenguez, C., Hamilton-Nelson, K., Martin, E. R., Kunkle, B. W., Bis, J. C., Debette, S., Destefano, A. L., Fornage, M., Nicolas, G., Van Duijn, C., Bennett, D. A., De Jager, P. L., Mayeux, R., Haines, J. L. & 6 others, Pericak-Vance, M. A., Seshadri, S., Lambert, J. C., Schellenberg, G. D., Lunetta, K. L. & Farrer, L. A., Jan 1 2019, (Accepted/In press) In : JAMA Neurology.

Research output: Contribution to journalArticle

Exome
Alzheimer Disease
Genotype
Alleles
Odds Ratio
4 Citations (Scopus)

A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease

Alzheimer's Disease Sequencing Project, Mar 1 2019, In : Alzheimer's and Dementia. 15, 3, p. 441-452 12 p.

Research output: Contribution to journalArticle

Open Access
Alzheimer Disease
Hispanic Americans
Genome-Wide Association Study
Case-Control Studies
Alzheimer disease type 2
2 Citations (Scopus)

Association of a Primary Open-Angle Glaucoma Genetic Risk Score with Earlier Age at Diagnosis

Fan, B. J., Bailey, J. C., Igo, R. P., Kang, J. H., Boumenna, T., Brilliant, M. H., Budenz, D. L., Fingert, J. H., Gaasterland, T., Gaasterland, D., Hauser, M. A., Kraft, P., Lee, R. K., Lichter, P. R., Liu, Y., Moroi, S. E., Myers, J. S., Pericak-Vance, M. A., Realini, A., Rhee, D. J. & 13 others, Richards, J. E., Ritch, R., Schuman, J. S., Scott, W. K., Singh, K., Sit, A. J., Vollrath, D., Weinreb, R. N., Wollstein, G., Zack, D. J., Haines, J. L., Pasquale, L. R. & Wiggs, J. L., Oct 2019, In : JAMA ophthalmology. 137, 10, p. 1190-1194 5 p.

Research output: Contribution to journalArticle

Glaucoma
National Eye Institute (U.S.)
Medical Genetics
Primary Open Angle Glaucoma
Genes
1 Citation (Scopus)

Association of Genetic Variants with Primary Open-Angle Glaucoma among Individuals with African Ancestry

Hauser, M. A., Allingham, R. R., Aung, T., Van Der Heide, C. J., Taylor, K. D., Rotter, J. I., Wang, S. H. J., Bonnemaijer, P. W. M., Williams, S. E., Abdullahi, S. M., Abu-Amero, K. K., Anderson, M. G., Akafo, S., Alhassan, M. B., Asimadu, I., Ayyagari, R., Bakayoko, S., Nyamsi, P. B., Bowden, D. W., Bromley, W. C. & 73 others, Budenz, D. L., Carmichael, T. R., Challa, P., Chen, Y. D. I., Chuka-Okosa, C. M., Cooke Bailey, J. N., Costa, V. P., Cruz, D. A., Dubiner, H., Ervin, J. F., Feldman, R. M., Flamme-Wiese, M., Gaasterland, D. E., Garnai, S. J., Girkin, C. A., Guirou, N., Guo, X., Haines, J. L., Hammond, C. J., Herndon, L., Hoffmann, T. J., Hulette, C. M., Hydara, A., Igo, R. P., Jorgenson, E., Kabwe, J., Kilangalanga, N. J., Kizor-Akaraiwe, N., Kuchtey, R. W., Lamari, H., Li, Z., Liebmann, J. M., Liu, Y., Loos, R. J. F., Melo, M. B., Moroi, S. E., Msosa, J. M., Mullins, R. F., Nadkarni, G., Napo, A., Ng, M. C. Y., Nunes, H. F., Obeng-Nyarkoh, E., Okeke, A., Okeke, S., Olaniyi, O., Olawoye, O., Oliveira, M. B., Pasquale, L. R., Perez-Grossmann, R. A., Pericak-Vance, M. A., Qin, X., Ramsay, M., Resnikoff, S., Richards, J. E., Schimiti, R. B., Sim, K. S., Sponsel, W. E., Svidnicki, P. V., Thiadens, A. A. H. J., Uche, N. J., Van Duijn, C. M., De Vasconcellos, J. P. C., Wiggs, J. L., Zangwill, L. M., Risch, N., Milea, D., Ashaye, A., Klaver, C. C. W., Weinreb, R. N., Ashley Koch, A. E., Fingert, J. H. & Khor, C. C., Nov 5 2019, In : JAMA - Journal of the American Medical Association. 322, 17, p. 1682-1691 10 p.

Research output: Contribution to journalArticle

Genome-Wide Association Study
Population
Alleles
Odds Ratio
Intraocular Pressure
3 Citations (Scopus)

Association of Rare Coding Mutations With Alzheimer Disease and Other Dementias Among Adults of European Ancestry

Alzheimer’s Disease Sequencing Project, Mar 1 2019, In : JAMA network open. 2, 3, p. e191350

Research output: Contribution to journalArticle

Open Access
Dementia
Alzheimer Disease
Mutation
Exome
Genes
2 Citations (Scopus)

A systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis

International Multiple Sclerosis Genetics Consortium, Dec 1 2019, In : Nature communications. 10, 1, 2236.

Research output: Contribution to journalArticle

Open Access
Systems Biology
Regulator Genes
biology
genes
genome
Open Access
document markup languages
HTML
Systems Biology
Regulator Genes
biology

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
Exome
Psychiatry
Publications
1 Citation (Scopus)

CpG-related SNPs in the MS4A region have a dose-dependent effect on risk of late–onset Alzheimer disease

Alzheimer’s Disease Genetics Consortium, Aug 1 2019, In : Aging Cell. 18, 4, e12964.

Research output: Contribution to journalArticle

Open Access
Single Nucleotide Polymorphism
Alzheimer Disease
DNA Methylation
Methylation
Brain
10 Citations (Scopus)

Dissecting the genetic relationship between cardiovascular risk factors and Alzheimer’s disease

Broce, I. J., Tan, C. H., Fan, C. C., Jansen, I., Savage, J. E., Witoelar, A., Wen, N., Hess, C. P., Dillon, W. P., Glastonbury, C. M., Glymour, M., Yokoyama, J. S., Elahi, F. M., Rabinovici, G. D., Miller, B. L., Mormino, E. C., Sperling, R. A., Bennett, D. A., McEvoy, L. K., Brewer, J. B. & 14 others, Feldman, H. H., Hyman, B. T., Pericak-Vance, M. A., Haines, J. L., Farrer, L. A., Mayeux, R., Schellenberg, G. D., Yaffe, K., Sugrue, L. P., Dale, A. M., Posthuma, D., Andreassen, O. A., Karch, C. M. & Desikan, R. S., Feb 11 2019, In : Acta neuropathologica. 137, 2, p. 209-226 18 p.

Research output: Contribution to journalArticle

Alzheimer Disease
Single Nucleotide Polymorphism
Waist-Hip Ratio
Apolipoproteins E
Type 2 Diabetes Mellitus

Erratum to: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases (Nature Communications, (2018), 9, 1, (1864), 10.1038/s41467-018-03646-6)

Blue Mountains Eye Study - GWAS group, Wellcome Trust Case Control Consortium 2 (WTCCC2) & NEIGHBORHOOD Consortium, Dec 1 2019, In : Nature communications. 10, 1, 155.

Research output: Contribution to journalComment/debate

Open Access
eye diseases
document markup languages
HTML
Eye Diseases
genome
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
2 Citations (Scopus)

Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility

International Multiple Sclerosis Genetics Consortium & ANZgene, IIBDGC, WTCCC2, Sep 27 2019, In : Science. 365, 6460, eaav7188.

Research output: Contribution to journalArticle

Microglia
Multiple Sclerosis
Major Histocompatibility Complex
X Chromosome
Genes

Rare variants and loci for age-related macular degeneration in the Ohio and Indiana Amish

Waksmunski, A. R., Igo, R. P., Song, Y. E., Cooke Bailey, J. N., Laux, R., Fuzzell, D., Fuzzell, S., Adams, L. D., Caywood, L., Prough, M., Stambolian, D., Scott, W. K., Pericak-Vance, M. A. & Haines, J. L., Jan 1 2019, (Accepted/In press) In : Human Genetics.

Research output: Contribution to journalArticle

Open Access
Amish
Macular Degeneration
Chromosomes, Human, Pair 18
Chromosomes, Human, Pair 8
Gene Ontology
3 Citations (Scopus)
Parkinsonian Disorders
Parkinson Disease
Genes

Retinal sensitivity using microperimetry in age-related macular degeneration in an amish population

Nittala, M. G., Velaga, S. B., Hariri, A., Pfau, M., Birch, D. G., Haines, J., Pericak-Vance, M. A., Stambolian, D. & Sadda, S. V. R., Jan 1 2019, In : Ophthalmic Surgery Lasers and Imaging Retina. 50, 9, p. E236-E241

Research output: Contribution to journalArticle

Amish
Macular Degeneration
Population
Retinal Drusen
Dark Adaptation

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

Sex differences in the genetic predictors of Alzheimer's pathology

Alzheimer’s Disease Genetics Consortium and the Alzheimer’s Disease Neuroimaging Initiative, Sep 1 2019, In : Brain : a journal of neurology. 142, 9, p. 2581-2589 9 p.

Research output: Contribution to journalArticle

Open Access
Sex Characteristics
Pathology
Genome-Wide Association Study
Endophenotypes
Alzheimer Disease

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
5 Citations (Scopus)

Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma

Gharahkhani, P., Burdon, K. P., Cooke Bailey, J. N., Hewitt, A. W., Law, M. H., Pasquale, L. R., Kang, J. H., Haines, J. L., Souzeau, E., Zhou, T., Siggs, O. M., Landers, J., Awadalla, M., Sharma, S., Mills, R. A., Ridge, B., Lynn, D., Casson, R., Graham, S. L., Goldberg, I. & 45 others, White, A., Healey, P. R., Grigg, J., Lawlor, M., Mitchell, P., Ruddle, J., Coote, M., Walland, M., Best, S., Vincent, A., Gale, J., Radfordsmith, G., Whiteman, D. C., Montgomery, G. W., Martin, N. G., MacKey, D. A., Wiggs, J. L., MacGregor, S., Craig, J. E., Allingham, R. R., Brilliant, M., Budenz, D. L., Fingert, J. H., Gaasterland, D., Gaasterland, T., Hark, L., Hauser, M., Igo, R. P., Kraft, P., Lee, R. K., Lichter, P. R., Liu, Y., Moroi, S., Pericak-Vance, M. A., Realini, A., Rhee, D., Richards, J. E., Ritch, R., Schuman, J. S., Scott, W. K., Singh, K., Sit, A. J., Vollrath, D., Wollstein, G. & Zack, D. J., Dec 1 2018, In : Scientific Reports. 8, 1, 3124.

Research output: Contribution to journalArticle

Open Angle Glaucoma
Glaucoma
Genome-Wide Association Study
Eye Diseases
Chromosome Mapping
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
7 Citations (Scopus)

Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

Iglesias, A. I., Mishra, A., Vitart, V., Bykhovskaya, Y., Höhn, R., Springelkamp, H., Cuellar-Partida, G., Gharahkhani, P., Bailey, J. N. C., Willoughby, C. E., Li, X., Yazar, S., Nag, A., Khawaja, A. P., Polašek, O., Siscovick, D., Mitchell, P., Tham, Y. C., Haines, J. L., Kearns, L. S. & 124 others, Hayward, C., Shi, Y., Van Leeuwen, E. M., Taylor, K. D., Wang, J. J., Rochtchina, E., Attia, J., Scott, R., Holliday, E. G., Baird, P. N., Xie, J., Inouye, M., Viswanathan, A., Sim, X., Bonnemaijer, P., Rotter, J. I., Martin, N. G., Zeller, T., Mills, R. A., Staffieri, S. E., Jonas, J. B., Schmidtmann, I., Boutin, T., Kang, J. H., Lucas, S. E. M., Wong, T. Y., Beutel, M. E., Wilson, J. F., Allingham, R. R., Brilliant, M. H., Budenz, D. L., Christen, W. G., Fingert, J., Friedman, D. S., Gaasterland, D., Gaasterland, T., Hauser, M. A., Kraft, P., Lee, R. K., Lichter, P. R., Liu, Y., Loomis, S. J., Moroi, S. E., Pericak-Vance, M. A., Realini, A., Richards, J. E., Schuman, J. S., Scott, W. K., Singh, K., Sit, A. J., Vollrath, D., Weinreb, R. N., Wollstein, G., Zack, D. J., Zhang, K., Donnelly, P., Barroso, I., Blackwell, J. M., Bramon, E., Brown, M. A., Casas, J. P., Corvin, A., Deloukas, P., Duncanson, A., Jankowski, J., Markus, H. S., Mathew, C. G., Palmer, C. N. A., Plomin, R., Rautanen, A., Sawcer, S. J., Trembath, R. C., Wood, N. W., Spencer, C. C. A., Band, G., Bellenguez, C., Freeman, C., Hellenthal, G., Giannoulatou, E., Pirinen, M., Pearson, R., Strange, A., Su, Z., Vukcevic, D., Langford, C., Hunt, S. E., Edkins, S., Gwilliam, R., Blackburn, H., Bumpstead, S. J., Dronov, S., Gillman, M., Gray, E., Hammond, N., Jayakumar, A., McCann, O. T., Liddle, J., Potter, S. C., Ravindrarajah, R., Ricketts, M., Waller, M., Weston, P., Widaa, S., Whittaker, P., Uitterlinden, A. G., Vithana, E. N., Foster, P. J., Hysi, P. G., Hewitt, A. W., Khor, C. C., Pasquale, L. R., Montgomery, G. W., Klaver, C. C. W., Aung, T., Pfeiffer, N., MacKey, D. A., Hammond, C. J., Cheng, C. Y., Craig, J. E., Rabinowitz, Y. S., Wiggs, J. L., Burdon, K. P., Van Duijn, C. M. & MacGregor, S., Dec 1 2018, In : Nature Communications. 9, 1, 1864.

Research output: Contribution to journalArticle

eye diseases
Eye Diseases
genome
Genome-Wide Association Study
Keratoconus

Erratum: Author Correction: A population-specific reference panel empowers genetic studies of Anabaptist populations (Scientific reports (2017) 7 1 (6079))

Hou, L., Kember, R. L., Roach, J. C., O'Connell, J. R., Craig, D. W., Bucan, M., Scott, W. K., Pericak-Vance, M., Haines, J. L., Crawford, M. H., Shuldiner, A. R. & McMahon, F. J., Apr 25 2018, In : Scientific reports. 8, 1, 1 p.

Research output: Contribution to journalComment/debate

Open Access
Population

Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease

International Genomics of Alzheimer's Project (IGAP), ARUK Consortium & GERAD/PERADES, CHARGE, ADGC, EADI, Jan 1 2018, In : Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring. 10, p. 595-598 4 p.

Research output: Contribution to journalArticle

Open Access
Cholesterol Ester Transfer Proteins
HDL Cholesterol
Alzheimer Disease
Genes
Single Nucleotide Polymorphism
4 Citations (Scopus)

Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer’s Disease Sequencing Project

Blue, E. E., Bis, J. C., Dorschner, M. O., Tsuang, D. W., Barral, S. M., Beecham, G. W., Below, J. E., Bush, W. S., Butkiewicz, M., Cruchaga, C., DeStefano, A., Farrer, L. A., Goate, A., Haines, J., Jaworski, J., Jun, G., Kunkle, B., Kuzma, A., Lee, J. J., Lunetta, K. L. & 22 others, Ma, Y., Martin, E. R., Naj, A., Nato, A. Q., Navas, P., Nguyen, H., Reitz, C., Reyes, D., Salerno, W., Schellenberg, G. D., Seshadri, S., Sohi, H., Thornton, T. A., Valadares, O., van Duijn, C., Vardarajan, B. N., Wang, L. S., Boerwinkle, E., Dupuis, J., Pericak-Vance, M. A., Mayeux, R. & Wijsman, E. M., Feb 27 2018, (Accepted/In press) In : Dementia and Geriatric Cognitive Disorders. p. 1-17 17 p.

Research output: Contribution to journalArticle

Dementia
Alzheimer Disease
Genes
Case-Control Studies
Apolipoproteins E
3 Citations (Scopus)

Genome-wide pleiotropy analysis of neuropathological traits related to Alzheimer's disease

Chung, J., Zhang, X., Allen, M., Wang, X., Ma, Y., Beecham, G. W., Montine, T. J., Younkin, S. G., Dickson, D. W., Golde, T. E., Price, N. D., Ertekin-Taner, N., Lunetta, K. L., Mez, J., Mayeux, R., Haines, J. L., Pericak-Vance, M. A., Schellenberg, G., Jun, G. R. & Farrer, L. A., Feb 20 2018, In : Alzheimer's Research and Therapy. 10, 1, 22.

Research output: Contribution to journalArticle

Neurofibrillary Tangles
Cerebral Amyloid Angiopathy
Alzheimer Disease
Genome
Amyloid Plaques
5 Citations (Scopus)

Genomic locus modulating corneal thickness in the mouse identifies POU6F2 as a potential risk of developing glaucoma

International Glaucoma Genetics Consortium & NEIGHBORHOOD Consortium, Jan 1 2018, In : PLoS Genetics. 14, 1, e1007145.

Research output: Contribution to journalArticle

glaucoma
Glaucoma
genomics
risk factor
Quantitative Trait Loci
18 Citations (Scopus)

Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk

International Multiple Sclerosis Genetics Consortium, Nov 29 2018, In : Cell. 175, 6, p. 1679-1687.e7

Research output: Contribution to journalArticle

Open Access
Multiple Sclerosis
Genes
Genome-Wide Association Study
Linkage Disequilibrium
Regulatory T-Lymphocytes
5 Citations (Scopus)

Male-specific epistasis between WWC1 and TLN2 genes is associated with Alzheimer's disease

Genetic and Environmental Risk in Alzheimer's Disease 1 consortium (GERAD1), Alzheimer's Disease Genetics Consortium (ADGC) & The European Alzheimer Disease Initiative Investigators (EADI1 Consortium), Jan 1 2018, (Accepted/In press) In : Neurobiology of Aging.

Research output: Contribution to journalArticle

Alzheimer Disease
Genes
Single Nucleotide Polymorphism
Brain
Talin
4 Citations (Scopus)

One for all and all for One: Improving replication of genetic studies through network diffusion

Lancour, D., Naj, A., Mayeux, R., Haines, J. L., Pericak-Vance, M. A., Schellenberg, G. C., Crovella, M., Farrer, L. A. & Kasif, S., Apr 1 2018, In : PLoS Genetics. 14, 4, e1007306.

Research output: Contribution to journalArticle

Genome-Wide Association Study
Alzheimer disease
genome
Alzheimer Disease
Genes
2 Citations (Scopus)

Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease

Beecham, G. W., Vardarajan, B., Blue, E., Bush, W., Jaworski, J., Barral, S., Destefano, A., Hamilton-Nelson, K., Kunkle, B., Martin, E. R., Naj, A., Rajabli, F., Reitz, C., Thornton, T., Van Duijn, C., Goate, A., Seshadri, S., Farrer, L. A., Boerwinkle, E., Schellenberg, G. & 4 others, Haines, J. L., Wijsman, E., Mayeux, R. & Pericak-Vance, M. A., Dec 1 2018, In : Neurology: Genetics. 4, 6, e286.

Research output: Contribution to journalArticle

Alzheimer Disease
Genes
Genome
Nitric Oxide Synthase
29 Citations (Scopus)

Sex-specific association of apolipoprotein e with cerebrospinal fluid levels of tau

Alzheimer's Disease Genetics Consortium and the Alzheimer's Disease Neuroimaging Initiative, Aug 1 2018, In : JAMA Neurology. 75, 8, p. 989-998 10 p.

Research output: Contribution to journalArticle

Apolipoproteins
Apolipoproteins E
Cerebrospinal Fluid
Alzheimer Disease
Neurofibrillary Tangles
2 Citations (Scopus)

Testosterone pathway genetic polymorphisms in relation to primary open-angle glaucoma: An analysis in two large datasets

Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG) Consortium, Feb 1 2018, In : Investigative Ophthalmology and Visual Science. 59, 2, p. 629-636 8 p.

Research output: Contribution to journalArticle

Genetic Polymorphisms
Testosterone
Genes
Single Nucleotide Polymorphism
Low Tension Glaucoma
3 Citations (Scopus)

The carnitine shuttle pathway is altered in patients with neovascular age-related macular degeneration

Mitchell, S. L., Uppal, K., Williamson, S. M., Liu, K., Goodwin Burgess, L., Tran, V., Umfress, A. C., Jarrell, K. L., Cooke Bailey, J. N., Agarwal, A., Pericak-Vance, M., Haines, J. L., Scott, W. K., Jones, D. P. & Brantley, M. A., Oct 1 2018, In : Investigative Ophthalmology and Visual Science. 59, 12, p. 4978-4985 8 p.

Research output: Contribution to journalArticle

Carnitine
Macular Degeneration
Metabolome
Cluster Analysis
Fundulidae

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
24 Citations (Scopus)

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

Alzheimer’s Disease Sequencing Project, Jan 1 2018, (Accepted/In press) In : Molecular Psychiatry.

Research output: Contribution to journalArticle

Exome
Alzheimer Disease
Hispanic Americans
Genes
Long Noncoding RNA
5 Citations (Scopus)

Whole genome sequencing of Caribbean Hispanic families with late-onset Alzheimer's disease

Vardarajan, B. N., Barral, S., Jaworski, J., Beecham, G. W., Blue, E., Tosto, G., Reyes-Dumeyer, D., Medrano, M., Lantigua, R., Naj, A., Thornton, T., Destefano, A., Martin, E., Wang, L. S., Brown, L., Bush, W., van Duijn, C., Goate, A., Farrer, L., Haines, J. L. & 5 others, Boerwinkle, E., Schellenberg, G., Wijsman, E., Pericak-Vance, M. A. & Mayeux, R., Jan 1 2018, (Accepted/In press) In : Annals of Clinical and Translational Neurology.

Research output: Contribution to journalArticle

Hispanic Americans
Alzheimer Disease
Genome
Genome-Wide Association Study
Dominican Republic
2017
90 Citations (Scopus)

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease

Huang, K. L., Marcora, E., Pimenova, A. A., Di Narzo, A. F., Kapoor, M., Jin, S. C., Harari, O., Bertelsen, S., Fairfax, B. P., Czajkowski, J., Chouraki, V., Grenier-Boley, B., Bellenguez, C., Deming, Y., McKenzie, A., Raj, T., Renton, A. E., Budde, J., Smith, A., Fitzpatrick, A. & 27 others, Bis, J. C., DeStefano, A., Adams, H. H. H., Ikram, M. A., Van Der Lee, S., Del-Aguila, J. L., Fernandez, M. V., Ibañez, L., Sims, R., Escott-Price, V., Mayeux, R., Haines, J. L., Farrer, L. A., Pericak-Vance, M. A., Lambert, J. C., Van Duijn, C., Launer, L., Seshadri, S., Williams, J., Amouyel, P., Schellenberg, G. D., Zhang, B., Borecki, I., Kauwe, J. S. K., Cruchaga, C., Hao, K. & Goate, A. M., Aug 1 2017, In : Nature Neuroscience. 20, 8, p. 1052-1061 10 p.

Research output: Contribution to journalArticle

Myeloid Cells
Haplotypes
Alzheimer Disease
Gene Regulatory Networks
Linkage Disequilibrium
7 Citations (Scopus)

A Common Variant of IL-6R is Associated with Elevated IL-6 Pathway Activity in Alzheimer's Disease Brains

Haddick, P. C. G., Larson, J. L., Rathore, N., Bhangale, T. R., Phung, Q. T., Srinivasan, K., Hansen, D. V., Lill, J. R., Pericak-Vance, M. A., Haines, J., Farrer, L. A., Kauwe, J. S., Schellenberg, G. D., Cruchaga, C., Goate, A. M., Behrens, T. W., Watts, R. J., Graham, R. R., Kaminker, J. S. & Van Der Brug, M., 2017, In : Journal of Alzheimer's Disease. 56, 3, p. 1037-1054 18 p.

Research output: Contribution to journalArticle

Interleukin-6
Alzheimer Disease
Age of Onset
Brain
Central Nervous System
5 Citations (Scopus)

A population-specific reference panel empowers genetic studies of Anabaptist populations

Hou, L., Kember, R. L., Roach, J. C., O'Connell, J. R., Craig, D. W., Bucan, M., Scott, W. K., Pericak-Vance, M. A., Haines, J. L., Crawford, M. H., Shuldiner, A. R. & McMahon, F. J., Dec 1 2017, In : Scientific Reports. 7, 1, 6079.

Research output: Contribution to journalArticle

Genome
Population
Gene Frequency
Amish
Sample Size
2 Citations (Scopus)

ASSOCIATION OF DRUSEN VOLUME WITH CHOROIDAL PARAMETERS IN NONNEOVASCULAR AGE-RELATED MACULAR DEGENERATION

Balasubramanian, S., Lei, J., Nittala, M. G., Velaga, S. B., Haines, J., Pericak-Vance, M. A., Stambolian, D. & Sadda, S. V. R., Feb 6 2017, (Accepted/In press) In : Retina.

Research output: Contribution to journalArticle

Amish
Macular Degeneration
Choroid
Optical Coherence Tomography
Retinal Pigment Epithelium
10 Citations (Scopus)

Caspase-8, association with Alzheimer’s Disease and functional analysis of rare variants

Rehker, J., Rodhe, J., Nesbitt, R. R., Boyle, E. A., Martin, B. K., Lord, J., Karaca, I., Naj, A., Jessen, F., Helisalmi, S., Soininen, H., Hiltunen, M., Ramirez, A., Scherer, M., Farrer, L. A., Haines, J. L., Pericak-Vance, M. A., Raskind, W. H., Cruchaga, C., Schellenberg, G. D. & 2 others, Joseph, B. & Brkanac, Z., Oct 1 2017, In : PLoS One. 12, 10, e0185777.

Research output: Contribution to journalArticle

caspase-8
Functional analysis
Caspase 8
Alzheimer disease
Alzheimer Disease
17 Citations (Scopus)

Clinical/Scientific Notes: The Alzheimer's disease sequencing project: Study design and sample selection

Beecham, G. W., Bis, J. C., Martin, E. R., Choi, S. H., DeStefano, A. L., Van Duijn, C. M., Fornage, M., Gabriel, S. B., Koboldt, D. C., Larson, D. E., Naj, A. C., Psaty, B. M., Salerno, W., Bush, W. S., Foroud, T. M., Wijsman, E., Farrer, L. A., Goate, A., Haines, J. L., Pericak-Vance, M. A. & 4 others, Boerwinkle, E., Mayeux, R., Seshadri, S. & Schellenberg, G., Oct 1 2017, In : Neurology: Genetics. 3, 5, e194.

Research output: Contribution to journalArticle

Alzheimer Disease
6 Citations (Scopus)

Coronary collateralization shows sex and racial-ethnic differences in obstructive artery disease patients

Liu, Z., Pericak-Vance, M. A., Goldschmidt-Clermont, P., Seo, D. M., Wang, L., Rundek, T. & Beecham, G. W., Oct 1 2017, In : PLoS One. 12, 10, e0183836.

Research output: Contribution to journalArticle

ethnic differences
Chromosomes, Human, Pair 17
Chromosomes
arteries
ancestry
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
87 Citations (Scopus)

Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score

Desikan, R. S., Fan, C. C., Wang, Y., Schork, A. J., Cabral, H. J., Cupples, L. A., Thompson, W. K., Besser, L., Kukull, W. A., Holland, D., Chen, C. H., Brewer, J. B., Karow, D. S., Kauppi, K., Witoelar, A., Karch, C. M., Bonham, L. W., Yokoyama, J. S., Rosen, H. J., Miller, B. L. & 14 others, Dillon, W. P., Wilson, D. M., Hess, C. P., Pericak-Vance, M. A., Haines, J. L., Farrer, L. A., Mayeux, R., Hardy, J., Goate, A. M., Hyman, B. T., Schellenberg, G. D., McEvoy, L. K., Andreassen, O. A. & Dale, A. M., Mar 1 2017, In : PLoS Medicine. 14, 3, e1002258.

Research output: Contribution to journalArticle

Hazards
Alzheimer Disease
National Institute on Aging (U.S.)
Genotype
Aging of materials