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  • Margaret A Pericak-Vance
2020

Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study

The Alzheimer’s Disease Genetics Consortium, Dec 1 2020, In : Nature communications. 11, 1, 667.

Research output: Contribution to journalArticle

Open Access
2 Scopus citations
2019

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. R. & Stambolian, D., Aug 1 2019, In : Retina. 39, 8, p. 1540-1550 11 p.

Research output: Contribution to journalArticle

1 Scopus citations

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., Sep 2019, In : JAMA Neurology. 76, 9, p. 1099-1108 10 p.

Research output: Contribution to journalArticle

2 Scopus citations

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

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

Research output: Contribution to journalArticle

Open Access
5 Scopus citations

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

4 Scopus citations

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

2 Scopus citations

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
6 Scopus citations

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
2 Scopus citations
Open Access

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
1 Scopus citations

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 2019, In : Aging Cell. 18, 4, e12964.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

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., 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

15 Scopus citations

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

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), 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), Mar 1 2019, In : Nature genetics. 51, 3, p. 414-430 17 p.

Research output: Contribution to journalArticle

145 Scopus citations

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
4 Scopus citations

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

15 Scopus citations

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., Oct 1 2019, In : Human genetics. 138, 10, p. 1171-1182 12 p.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations

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

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

Sex differences in the genetic predictors of Alzheimer’s pathology

Alzheimer’s Disease Genetics Consortium & Alzheimer’s Disease Neuroimaging Initiative, Sep 1 2019, In : Brain. 142, 9, p. 2581-2589 9 p.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

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
2018

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., 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

7 Scopus citations

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. L., 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
10 Scopus citations

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

24 Scopus citations

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

11 Scopus citations

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

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

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., 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., 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

6 Scopus citations

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

Chung, J., Zhang, X., Allen, M., Wang, X., Ma, Y., Beecham, G., 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

4 Scopus citations

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

8 Scopus citations

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
26 Scopus citations

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), Dec 2018, In : Neurobiology of aging. 72, p. 188.e3-188.e12

Research output: Contribution to journalArticle

7 Scopus citations

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

4 Scopus citations

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., Stefano, A. D., Hamilton-Nelson, K., Kunkle, B., Martin, E. R., Naj, A., Pericak-Vance, M. A., Reitz, C., Thornton, T., Duijn, C. V., 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

2 Scopus citations

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

39 Scopus citations

Sex-specific genetic predictors of Alzheimer’s disease biomarkers

Alzheimer’s Disease Neuroimaging Initiative (ADNI) & The Alzheimer Disease Genetics Consortium (Adgc), Dec 1 2018, In : Acta neuropathologica. 136, 6, p. 857-872 16 p.

Research output: Contribution to journalArticle

16 Scopus citations

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 2018, In : Investigative Ophthalmology and Visual Science. 59, 2, p. 629-636 8 p.

Research output: Contribution to journalArticle

3 Scopus citations

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

4 Scopus citations

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

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

36 Scopus citations

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

The Alzheimer's Disease Sequencing Project, Apr 2018, In : Annals of Clinical and Translational Neurology. 5, 4, p. 406-417 12 p.

Research output: Contribution to journalArticle

6 Scopus citations
2017

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

97 Scopus citations

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

9 Scopus citations

Age at natural menopause genetic risk score in relation to age at natural menopause and primary open-angle glaucoma in a US-based sample

Pasquale, L. R., Aschard, H., Kang, J. H., Bailey, J. N. C., Lindström, S., Chasman, D. I., Christen, W. G., Allingham, R. R., Ashley-Koch, A., Lee, R. K., Moroi, S. E., Brilliant, M. H., Wollstein, G., Schuman, J. S., Fingert, J., Budenz, D. L., Realini, T., Gaasterland, T., Gaasterland, D., Scott, W. K. & 21 others, Singh, K., Sit, A. J., Igo, R. P., Song, Y. E., Hark, L., Ritch, R., Rhee, D. J., Gulati, V., Havens, S., Vollrath, D., Zack, D. J., Medeiros, F., Weinreb, R. N., Pericak-Vance, M. A., Liu, Y., Kraft, P., Richards, J. E., Rosner, B. A., Hauser, M. A., Haines, J. L. & Wiggs, J. L., Jan 1 2017, In : Menopause. 24, 2, p. 150-156 7 p.

Research output: Contribution to journalArticle

4 Scopus citations

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

5 Scopus citations

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

2 Scopus citations

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 2017, In : PloS one. 12, 10, e0185777.

Research output: Contribution to journalArticle

10 Scopus citations

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

20 Scopus citations