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  • Eden R Martin
2016

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., Scott, W. K. & Vance, J. M., Feb 1 2016, In : Neurology: Genetics. 2, 1, e44.

Research output: Contribution to journalArticle

11 Scopus citations

Quantitative autistic trait measurements index background genetic risk for ASD in Hispanic families

Page, J., Constantino, J. N., Zambrana, K., Martin, E., Tunc, I., Zhang, Y., Abbacchi, A. & Messinger, D., Sep 6 2016, In : Molecular Autism. 7, 1, 39.

Research output: Contribution to journalArticle

8 Scopus citations

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

21 Scopus citations

Shared genetic contribution to ischemic stroke and Alzheimer's disease

Traylor, M., Adib-Samii, P., Harold, D., Dichgans, M., Williams, J., Lewis, C. M., Markus, H. S., Fornage, M., Holliday, E. G., Sharma, P., Bis, J. C., Psaty, B. M., Seshadri, S., Nalls, M. A., Devan, W. J., Boncoraglio, G., Malik, R., Mitchell, B. D., Kittner, S. J., Ikram, M. A. & 188 others, Clarke, R., Rosand, J., Meschia, J. F., Sudlow, C., Rothwell, P. M., Levi, C., Bevan, S., Kilarski, L. L., Walters, M., Thijs, V., Slowik, A., Lindgren, A., De Bakker, P. I. W., Lambert, J. C., Ibrahim-Verbaas, C. A., Naj, A. C., Sims, R., Bellenguez, C., Jun, G., Destefano, A. L., Beecham, G. W., Grenier-Boley, B., Russo, G., Thornton-Wells, T. A., Jones, N., Smith, A. V., Chouraki, V., Thomas, C., Zelenika, D., Vardarajan, B. N., Kamatani, Y., Lin, C. F., Gerrish, A., Schmidt, H., Kunkle, B., Dunstan, M. L., Ruiz, A., Bihoreau, M. T., Choi, S. H., Reitz, C., Pasquier, F., Hollingworth, P., Ramirez, A., Hanon, O., Fitzpatrick, A. L., Buxbaum, J. D., Campion, D., Crane, P. K., Baldwin, C., Becker, T., Gudnason, V., Cruchaga, C., Craig, D., Amin, N., Berr, C., Lopez, O. L., De Jager, P. L., Deramecourt, V., Johnston, J. A., Evans, D., Lovestone, S., Letenneur, L., Morón, F. J., Rubinsztein, D. C., Eiriksdottir, G., Sleegers, K., Goate, A. M., Fiçvet, N., Huentelman, M. J., Gill, M., Brown, K., Kamboh, M. I., Keller, L., Barberger-Gateau, P., McGuinness, B., Larson, E. B., Green, R., Myers, A. J., Dufouil, C., Todd, S., Wallon, D., Love, S., Rogaeva, E., Gallacher, J., St George-Hyslop, P., Clarimon, J., Lleo, A., Bayer, A., Tsuang, D. W., Yu, L., Tsolaki, M., Bossù, P., Spalletta, G., Proitsi, P., Collinge, J., Sorbi, S., Sanchez-Garcia, F., Fox, N. C., Hardy, J., Deniz Naranjo, M. C., Bosco, P., Brayne, C., Galimberti, D., Mancuso, M., Matthews, F., Moebus, S., Mecocci, P., Del Zompo, M., Maier, W., Hampel, H., Pilotto, A., Bullido, M., Panza, F., Caffarra, P., Nacmias, B., Gilbert, J. R., Mayhaus, M., Lannfelt, L., Hakonarson, H., Pichler, S., Carrasquillo, M. M., Ingelsson, M., Beekly, D., Alvarez, V., Zou, F., Valladares, O., Younkin, S. G., Coto, E., Hamilton-Nelson, K. L., Gu, W., Razquin, C., Pastor, P., Mateo, I., Owen, M. J., Faber, K. M., Jonsson, P. V., Combarros, O., O'Donovan, M. C., Cantwell, L. B., Soininen, H., Blacker, D., Mead, S., Mosley, T. H., Bennett, D. A., Harris, T. B., Fratiglioni, L., Holmes, C., De Bruijn, R. F. A. G., Passmore, P., Montine, T. J., Bettens, K., Rotter, J. I., Brice, A., Morgan, K., Foroud, T. M., Kukull, W. A., Hannequin, D., Powell, J. F., Nalls, M. A., Ritchie, K., Lunetta, K. L., Kauwe, J. S. K., Boerwinkle, E., Riemenschneider, M., Boada, M., Hiltunen, M., Martin, E. R., Schmidt, R., Rujescu, D., Wang, L. S., Dartigues, J. F., Mayeux, R., Tzourio, C., Hofman, A., Nöthen, M. M., Graff, C., Jones, L., Haines, J. L., Holmans, P. A., Lathrop, M., Pericak-Vance, M. A., Launer, L. J., Farrer, L. A., Van Duijn, C. M., Van Broeckhoven, C., Moskvina, V., Schellenberg, G. D. & Amouyel, P., May 1 2016, In : Annals of neurology. 79, 5, p. 739-747 9 p.

Research output: Contribution to journalArticle

26 Scopus citations
2015

Associations between Potentially Modifiable Risk Factors and Alzheimer Disease: A Mendelian Randomization Study

Alzheimer’s Disease Genetics Consortium, The GERAD1 Consortium & EPIC-InterAct Consortium, Jun 1 2015, In : PLoS Medicine. 12, 6, e1001841.

Research output: Contribution to journalArticle

69 Scopus citations

Carbonic anhydrase-8 regulates inflammatory pain by inhibiting the ITPR1-cytosolic free calcium pathway

Zhuang, G. Z., Keeler, B., Grant, J., Bianchi, L., Fu, E. S., Zhang, Y. P., Erasso, D. M., Cui, J. G., Wiltshire, T., Li, Q., Hao, S., Sarantopoulos, K. D., Candiotti, K., Wishnek, S. M., Smith, S. B., Maixner, W., Diatchenko, L., Martin, E. R. & Levitt, R. C., Mar 3 2015, In : PloS one. 10, 3, e0118273.

Research output: Contribution to journalArticle

15 Scopus citations
49 Scopus citations

Convergent genetic and expression data implicate immunity in Alzheimer's disease

International Genomics of Alzheimer's Disease Consortium (IGAP), Jun 1 2015, In : Alzheimer's and Dementia. 11, 6, p. 658-671 14 p.

Research output: Contribution to journalArticle

106 Scopus citations

Dry eye symptoms align more closely to non-ocular conditions than to tear film parameters

Galor, A., Felix, E., Feuer, W. J., Shalabi, N., Martin, E. R., Margolis, T. P., Sarantopoulos, K. D. & Levitt, R. C., Aug 1 2015, In : British Journal of Ophthalmology. 99, 8, p. 1126-1129 4 p.

Research output: Contribution to journalArticle

44 Scopus citations

Dry eye symptom severity and persistence are associated with symptoms of neuropathic pain

Galor, A., Zlotcavitch, L., Walter, S. D., Felix, E., Feuer, W. J., Martin, E. R., Margolis, T. P., Sarantopoulos, K. D. & Levitt, R. C., May 1 2015, In : British Journal of Ophthalmology. 99, 5, p. 665-668 4 p.

Research output: Contribution to journalArticle

43 Scopus citations

Genetically predicted body mass index and Alzheimer's disease-related phenotypes in three large samples: Mendelian randomization analyses

Adult Changes in Thought Study Investigators, Religious Orders Study/Memory and Aging Project Investigators & Alzheimer's Disease Genetics Consortium, Dec 1 2015, In : Alzheimer's and Dementia. 11, 12, p. 1439-1451 13 p.

Research output: Contribution to journalArticle

21 Scopus citations

Genome-wide scan demonstrates significant linkage for male sexual orientation

Sanders, A. R., Martin, E. R., Beecham, G. W., Guo, S., Dawood, K., Rieger, G., Badner, J. A., Gershon, E. S., Krishnappa, R. S., Kolundzija, A. B., Duan, J., Gejman, P. V. & Bailey, J. M., May 28 2015, In : Psychological Medicine. 45, 7, p. 1379-1388 10 p.

Research output: Contribution to journalArticle

59 Scopus citations

Incomplete response to artificial tears is associated with features of neuropathic ocular pain

Galor, A., Batawi, H., Felix, E., Margolis, T. P., Sarantopoulos, K. D., Martin, E. R. & Levitt, R. C., Sep 16 2015, (Accepted/In press) In : British Journal of Ophthalmology.

Research output: Contribution to journalArticle

32 Scopus citations

Integrated whole transcriptome and DNA methylation analysis identifies gene networks specific to late-onset Alzheimer's disease

Humphries, C. E., Kohli, M. A., Nathanson, L., Whitehead, P., Beecham, G. W., Martin, E. R., Mash, D. C., Pericak-Vance, M. A. & Gilbert, J., 2015, In : Journal of Alzheimer's Disease. 44, 3, p. 977-987 11 p.

Research output: Contribution to journalArticle

28 Scopus citations

Neuropathic ocular pain: An important yet underevaluated feature of dry eye

Galor, A., Levitt, R. C., Felix, E., Martin, E. R. & Sarantopoulos, K. D., Mar 15 2015, In : Eye (Basingstoke). 29, 3, p. 301-312 12 p.

Research output: Contribution to journalArticle

75 Scopus citations

Neuropathic Ocular Pain due to Dry Eye Is Associated With Multiple Comorbid Chronic Pain Syndromes

Galor, A., Covington, D., Levitt, A. E., McManus, K. T., Seiden, B., Felix, E., Kalangara, J., Feuer, W. J., Patin, D., Martin, E. R., Sarantopoulos, K. D. & Levitt, R. C., Aug 10 2015, (Accepted/In press) In : Journal of Pain.

Research output: Contribution to journalArticle

37 Scopus citations

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

28 Scopus citations

Rarity of the alzheimer disease-protective APP A673T variant in the United States

National Institute on Aging-Late-Onset Alzheimer's Disease (NIA-LOAD) Family Study & Alzheimer's Disease Genetics Consortium, Feb 1 2015, In : JAMA Neurology. 72, 2, p. 209-216 8 p.

Research output: Contribution to journalArticle

21 Scopus citations

Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants

Griswold, A., Dueker, N. D., Van Booven, D., Rantus, J. A., Jaworski, J. M., Slifer, S. H., Schmidt, M., Hulme, W., Konidari, I., Whitehead, P. L., Cuccaro, M., Martin, E. R., Haines, J. L., Gilbert, J., Hussman, J. P. & Pericak-Vance, M. A., Jul 7 2015, In : Molecular Autism. 6, 1, 43.

Research output: Contribution to journalArticle

26 Scopus citations

Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis

Kozol, R., Cukier, H. N., Zou, B., Mayo, V., De Rubeis, S., Cai, G., Griswold, A., Whitehead, P. L., Haines, J. L., Gilbert, J., Cuccaro, M., Martin, E. R., Baker, J., Buxbaum, J. D., Pericak-Vance, M. A. & Dallman, J., Jul 15 2015, In : Human Molecular Genetics. 24, 14, p. 4006-4023 18 p., ddv138.

Research output: Contribution to journalArticle

27 Scopus citations

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., Apr 1 2015, In : Movement Disorders. 30, 4, p. 560-566 7 p.

Research output: Contribution to journalArticle

31 Scopus citations
2014

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., May 2014, In : Movement Disorders. 29, 6, p. 827-830 4 p.

Research output: Contribution to journalArticle

18 Scopus citations

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

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

Research output: Contribution to journalArticle

10 Scopus citations

Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: A genome-wide association study

Alzheimer Disease Genetics Consortium, Nov 1 2014, In : JAMA Neurology. 71, 11, p. 1394-1404 11 p.

Research output: Contribution to journalArticle

93 Scopus citations

Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders

Cukier, H. N., Dueker, N. D., Slifer, S. H., Lee, J. M., Whitehead, P. L., Lalanne, E., Leyva, N., Konidari, I., Gentry, R. C., Hulme, W. F., Booven, D. V., Mayo, V., Hofmann, N. K., Schmidt, M. A., Martin, E. R., Haines, J. L., Cuccaro, M. L., Gilbert, J. R. & Pericak-Vance, M. A., Jan 10 2014, In : Molecular Autism. 5, 1, 1.

Research output: Contribution to journalArticle

102 Scopus citations

Family-based association test using both common and rare variants and accounting for directions of effects for sequencing data

Chung, R. H., Tsai, W. Y. & Martin, E. R., Sep 22 2014, In : PloS one. 9, 9, e107800.

Research output: Contribution to journalArticle

5 Scopus citations

Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease

Escott-Price, V., Bellenguez, C., Wang, L. S., Choi, S. H., Harold, D., Jones, L., Holmans, P., Gerrish, A., Vedernikov, A., Richards, A., DeStefano, A. L., Lambert, J. C., Ibrahim-Verbaas, C. A., Naj, A. C., Sims, R., Jun, G., Bis, J. C., Beecham, G. W., Grenier-Boley, B., Russo, G. & 167 others, Thornton-Wells, T. A., Denning, N., Smith, A. V., Chouraki, V., Thomas, C., Arfan Ikram, M., Zelenika, D., Vardarajan, B. N., Kamatani, Y., Lin, C. F., Schmidt, H., Kunkle, B., Dunstan, M. L., Vronskaya, M., Johnson, A. D., Ruiz, A., Bihoreau, M. T., Reitz, C., Pasquier, F., Hollingworth, P., Hanon, O., Fitzpatrick, A. L., Buxbaum, J. D., Campion, D., Crane, P. K., Becker, C. B. T., Gudnason, V., Cruchaga, C., Craig, D., Amin, N., Berr, C., Lopez, O. L., De Jager, P. L., Deramecourt, V., Johnston, J. A., Evans, D., Lovestone, S., Letenneur, L., Hernández, I., Rubinsztein, D. C., Eiriksdottir, G., Sleegers, K., Goate, A. M., Fiévet, N., Huentelman, M. J., Gill, M., Brown, K., Kamboh, M. I., Keller, L., Barberger-Gateau, P., McGuinness, B., Larson, E. B., Myers, A. J., Dufouil, C., Todd, S., Wallon, D., Love, S., Rogaeva, E., Gallacher, J., St George-Hyslop, P., Clarimon, J., Lleo, A., Bayer, A., Tsuang, D. W., Yu, L., Tsolaki, M., Bossù, P., Spalletta, G., Proitsi, P., Collinge, J., Sorbi, S., Sanchez Garcia, F., Fox, N. C., Hardy, J., Naranjo, M. C. D., Bosco, P., Clarke, R., Brayne, C., Galimberti, D., Scarpini, E., Bonuccelli, U., Mancuso, M., Siciliano, G., Moebus, S., Mecocci, P., Del Zompo, M., Maier, W., Hampel, H., Pilotto, A., Frank-García, A., Panza, F., Solfrizzi, V., Caffarra, P., Nacmias, B., Perry, W., Mayhaus, M., Lannfelt, L., Hakonarson, H., Pichler, S., Carrasquillo, M. M., Ingelsson, M., Beekly, D., Alvarez, V., Zou, F., Valladares, O., Younkin, S. G., Coto, E., Hamilton-Nelson, K. L., Gu, W., Razquin, C., Pastor, P., Mateo, I., Owen, M. J., Faber, K. M., Jonsson, P. V., Combarros, O., O'Donovan, M. C., Cantwell, L. B., Soininen, H., Blacker, D., Mead, S., Mosley, T. H., Bennett, D. A., Harris, T. B., Fratiglioni, L., Holmes, C., De Bruijn, R. F. A. G., Passmore, P., Montine, T. J., Bettens, K., Rotter, J. I., Brice, A., Morgan, K., Foroud, T. M., Kukull, W. A., Hannequin, D., Powell, J. F., Nalls, M. A., Ritchie, K., Lunetta, K. L., Kauwe, J. S. K., Boerwinkle, E., Riemenschneider, M., Boada, M., Hiltunen, M., Martin, E. R., Schmidt, R., Rujescu, D., Dartigues, J. F., Mayeux, R., Tzourio, C., Hofman, A., Nöthen, M. M., Graff, C., Psaty, B. M., Haines, J. L., Lathrop, M., Pericak-Vance, M. A., Launer, L. J., Van Broeckhoven, C., Farrer, L. A., Van Duijn, C. M., Ramirez, A., Seshadri, S., Schellenberg, G. D., Amouyel, P. & Williams, J., Jun 12 2014, In : PloS one. 9, 6, e94661.

Research output: Contribution to journalArticle

62 Scopus citations

Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias

Beecham, G. W., Hamilton, K., Naj, A. C., Martin, E. R., Huentelman, M., Myers, A. J., Corneveaux, J. J., Hardy, J., Vonsattel, J. P., Younkin, S. G., Bennett, D. A., De Jager, P. L., Larson, E. B., Crane, P. K., Kamboh, M. I., Kofler, J. K., Mash, D. C., Duque, L., Gilbert, J. R., Gwirtsman, H. & 16 others, Buxbaum, J. D., Kramer, P., Dickson, D. W., Farrer, L. A., Frosch, M. P., Ghetti, B., Haines, J. L., Hyman, B. T., Kukull, W. A., Mayeux, R. P., Pericak-Vance, M. A., Schneider, J. A., Trojanowski, J. Q., Reiman, E. M., Schellenberg, G. D. & Montine, T. J., Sep 1 2014, In : PLoS genetics. 10, 9

Research output: Contribution to journalArticle

151 Scopus citations

Valid monte carlo permutation tests for genetic case-control studies with missing genotypes

Kinnamon, D. D. & Martin, E. R., May 2014, In : Genetic Epidemiology. 38, 4, p. 325-344 20 p.

Research output: Contribution to journalArticle

2 Scopus citations
2013

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. I., Nahab, F., Martin, E. R., Gilbert, J. R., Benatar, M., Haines, J. L., Scott, W. K., Züchner, S., 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

46 Scopus citations

Evaluating Mitochondrial DNA Variation in Autism Spectrum Disorders

Hadjixenofontos, A., Schmidt, M. A., Whitehead, P. L., Konidari, I., Hedges, D. J., Wright, H. H., Abramson, R. K., Menon, R., Williams, S. M., Cuccaro, M. L., Haines, J. L., Gilbert, J. R., Pericak-Vance, M. A., Martin, E. R. & McCauley, J. L., Jan 2013, In : Annals of Human Genetics. 77, 1, p. 9-21 13 p.

Research output: Contribution to journalArticle

19 Scopus citations

Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy

Norton, N., Li, D., Rampersaud, E., Morales, A., Martin, E. R., Zuchner, S., Guo, S., Gonzalez, M., Hedges, D. J., Robertson, P. D., Krumm, N., Nickerson, D. A. & Hershberger, R. E., Apr 1 2013, In : Circulation: Cardiovascular Genetics. 6, 2, p. 144-153 10 p.

Research output: Contribution to journalArticle

69 Scopus citations
12 Scopus citations

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

Lambert, J. C., Ibrahim-Verbaas, C. A., Harold, D., Naj, A. C., Sims, R., Bellenguez, C., Jun, G., DeStefano, A. L., Bis, J. C., Beecham, G. W., Grenier-Boley, B., Russo, G., Thornton-Wells, T. A., Jones, N., Smith, A. V., Chouraki, V., Thomas, C., Ikram, M. A., Zelenika, D., Vardarajan, B. N. & 162 others, Kamatani, Y., Lin, C. F., Gerrish, A., Schmidt, H., Kunkle, B., Fiévet, N., Amouyel, P., Pasquier, F., Deramecourt, V., De Bruijn, R. F. A. G., Amin, N., Hofman, A., Van Duijn, C. M., Dunstan, M. L., Hollingworth, P., Owen, M. J., O'Donovan, M. C., Jones, L., Holmans, P. A., Moskvina, V., Williams, J., Baldwin, C., Farrer, L. A., Choi, S. H., Lunetta, K. L., Fitzpatrick, A. L., Harris, T. B., Psaty, B. M., Gilbert, J. R., Hamilton-Nelson, K. L., Martin, E. R., Pericak-Vance, M. A., Haines, J. L., Gudnason, V., Jonsson, P. V., Eiriksdottir, G., Bihoreau, M. T., Lathrop, M., Valladares, O., Cantwell, L. B., Wang, L. S., Schellenberg, G. D., Ruiz, A., Boada, M., Reitz, C., Mayeux, R., Ramirez, A., Maier, W., Hanon, O., Kukull, W. A., Buxbaum, J. D., Campion, D., Wallon, D., Hannequin, D., Crane, P. K., Larson, E. B., Becker, T., Cruchaga, C., Goate, A. M., Craig, D., Johnston, J. A., Mc-Guinness, B., Todd, S., Passmore, P., Berr, C., Ritchie, K., Lopez, O. L., De Jager, P. L., Evans, D., Lovestone, S., Proitsi, P., Powell, J. F., Letenneur, L., Barberger-Gateau, P., Dufouil, C., Dartigues, J. F., Morón, F. J., Rubinsztein, D. C., St. George-Hyslop, P., Sleegers, K., Bettens, K., Van Broeckhoven, C., Huentelman, M. J., Gill, M., Brown, K., Morgan, K., Kamboh, M. I., Keller, L., Fratiglioni, L., Green, R., Myers, A. J., Love, S., Rogaeva, E., Gallacher, J., Bayer, A., Clarimon, J., Lleo, A., Tsuang, D. W., Yu, L., Bennett, D. A., Tsolaki, M., Bossù, P., Spalletta, G., Collinge, J., Mead, S., Sorbi, S., Nacmias, B., Sanchez-Garcia, F., Deniz Naranjo, M. C., Fox, N. C., Hardy, J., Bosco, P., Clarke, R., Brayne, C., Galimberti, D., Mancuso, M., Matthews, F., Moebus, S., Mecocci, P., Del Zompo, M., Hampel, H., Pilotto, A., Bullido, M., Panza, F., Caffarra, P., Mayhaus, M., Pichler, S., Gu, W., Riemenschneider, M., Lannfelt, L., Ingelsson, M., Hakonarson, H., Carrasquillo, M. M., Zou, F., Younkin, S. G., Beekly, D., Alvarez, V., Coto, E., Razquin, C., Pastor, P., Mateo, I., Combarros, O., Faber, K. M., Foroud, T. M., Soininen, H., Hiltunen, M., Blacker, D., Mosley, T. H., Graff, C., Holmes, C., Montine, T. J., Rotter, J. I., Brice, A., Nalls, M. A., Kauwe, J. S. K., Boerwinkle, E., Schmidt, R., Rujescu, D., Tzourio, C., Nöthen, M. M., Launer, L. J. & Seshadri, S., Dec 1 2013, In : Nature genetics. 45, 12, p. 1452-1458 7 p.

Research output: Contribution to journalArticle

1706 Scopus citations

Pathway-PDT: A flexible pathway analysis tool for nuclear families

Park, Y. S., Schmidt, M., Martin, E. R., Pericak-Vance, M. A. & Chung, R. H., Sep 4 2013, In : BMC Bioinformatics. 14, 1, 267.

Research output: Contribution to journalArticle

8 Scopus citations

Reconstructing the Population Genetic History of the Caribbean

Moreno-Estrada, A., Gravel, S., Zakharia, F., McCauley, J. L., Byrnes, J. K., Gignoux, C. R., Ortiz-Tello, P. A., Martínez, R. J., Hedges, D. J., Morris, R. W., Eng, C., Sandoval, K., Acevedo-Acevedo, S., Norman, P. J., Layrisse, Z., Parham, P., Martínez-Cruzado, J. C., Burchard, E. G., Cuccaro, M. L., Martin, E. R. & 1 others, Bustamante, C. D., Nov 1 2013, In : PLoS genetics. 9, 11, e1003925.

Research output: Contribution to journalArticle

139 Scopus citations

Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians

Kohli, M. A., John-Williams, K., Rajbhandary, R., Naj, A., Whitehead, P., Hamilton, K., Carney, R. M., Wright, C., Crocco, E., Gwirtzman, H. E., Lang, R., Beecham, G., Martin, E. R., Gilbert, J., Benatar, M., Small, G. W., Mash, D., Byrd, G., Haines, J. L., Pericak-Vance, M. A. & 1 others, Züchner, S., May 2013, In : Neurobiology of aging. 34, 5, p. 1519.e5-1519.e12

Research output: Contribution to journalArticle

53 Scopus citations

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., Züchner, S., 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

51 Scopus citations
2012

Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis

Whitcomb, D. C., LaRusch, J., Krasinskas, A. M., Klei, L., Smith, J. P., Brand, R. E., Neoptolemos, J. P., Lerch, M. M., Tector, M., Sandhu, B. S., Guda, N. M., Orlichenko, L., Alkaade, S., Amann, S. T., Anderson, M. A., Baillie, J., Banks, P. A., Conwell, D., Coté, G. A., Cotton, P. B. & 178 others, DiSario, J., Farrer, L. A., Forsmark, C. E., Johnstone, M., Gardner, T. B., Gelrud, A., Greenhalf, W., Haines, J. L., Hartman, D. J., Hawes, R. A., Lawrence, C., Lewis, M., Mayerle, J., Mayeux, R., Melhem, N. M., Money, M. E., Muniraj, T., Papachristou, G. I., Pericak-Vance, M. A., Romagnuolo, J., Schellenberg, G. D., Sherman, S., Simon, P., Singh, V. P., Slivka, A., Stolz, D., Sutton, R., Weiss, F. U., Wilcox, C. M., Zarnescu, N. O., Wisniewski, S. R., O'Connell, M. R., Kienholz, M. L., Roeder, K., Barmada, M. M., Yadav, D., Devlin, B., Albert, M. S., Albin, R. L., Apostolova, L. G., Arnold, S. E., Baldwin, C. T., Barber, R., Barnes, L. L., Beach, T. G., Beecham, G. W., Beekly, D., Bennett, D. A., Bigio, E. H., Bird, T. D., Blacker, D., Boxer, A., Burke, J. R., Buxbaum, J. D., Cairns, N. J., Cantwell, L. B., Cao, C., Carney, R. M., Carroll, S. L., Chui, H. C., Clark, D. G., Cribbs, D. H., Crocco, E. A., Cruchaga, C., DeCarli, C., Demirci, F. Y., Dick, M., Dickson, D. W., Duara, R., Ertekin-Taner, N., Faber, K. M., Fallon, K. B., Farlow, M. R., Ferris, S., Foroud, T. M., Frosch, M. P., Galasko, D. R., Ganguli, M., Gearing, M., Geschwind, D. H., Ghetti, B., Gilbert, J. R., Gilman, S., Glass, J. D., Goate, A. M., Graff-Radford, N. R., Green, R. C., Growdon, J. H., Hakonarson, H., Hamilton-Nelson, K. L., Hamilton, R. L., Harrell, L. E., Head, E., Honig, L. S., Hulette, C. M., Hyman, B. T., Jicha, G. A., Jin, L. W., Jun, G., Kamboh, M. I., Karydas, A., Kaye, J. A., Kim, R., Koo, E. H., Kowall, N. W., Kramer, J. H., Kramer, P., Kukul, W. A., LaFerla, F. M., Lah, J. J., Leverenz, J. B., Levey, A. I., Li, G., Lin, C. F., Lieberman, A. P., Lopez, O. L., Lunetta, K. L., Lyketsos, C. G., MacK, W. J., Marson, D. C., Martin, E. R., Martiniuk, F., Mash, D. C., Masliah, E., McKee, A. C., Mesulam, M., Miller, B. L., Miller, C. A., Miller, J. W., Montine, T. J., Morris, J. C., Murrel, J. R., Naj, A. C., Olichney, J. M., Parisi, J. E., Peskind, E., Petersen, R. C., Pierce, A., Poon, W. W., Potter, H., Quinn, J. F., Raj, A., Raskind, M., Reiman, E. M., Reisberg, B., Reitz, C., Ringman, J. M., Roberson, E. D., Rosen, H. J., Rosenberg, R. N., Sano, M., Saykin, A. J., Schneider, J. A., Schneider, L. S., Seeley, W. W., Smith, A. G., Sonnen, J. A., Spina, S., Stern, R. A., Tanzi, R. E., Trojanowski, J. Q., Troncoso, J. C., Tsuang, D. W., Valladares, O., Van Deerlin, V. M., Van Eldik, L. J., Vardarajan, B. N., Vinters, H. V., Vonsatte, J. P., Wang, L. S., Weintraub, S., Welsh-Bohmer, K. A., Williamson, J., Woltjer, R. L., Wright, C. B., Younkin, S. G., Yu, C. E. & Yu, L., Dec 1 2012, In : Nature genetics. 44, 12, p. 1349-1354 6 p.

Research output: Contribution to journalArticle

156 Scopus citations

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., 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., 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

364 Scopus citations

Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era

Norton, N., Robertson, P. D., Rieder, M. J., Züchner, S., Rampersaud, E., Martin, E., Li, D., Nickerson, D. A. & Hershberger, R. E., Apr 1 2012, In : Circulation: Cardiovascular Genetics. 5, 2, p. 167-174 8 p.

Research output: Contribution to journalArticle

87 Scopus citations

Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways

Griswold, A. J., Ma, D., Cukier, H. N., Nations, L. D., Schmidt, M. A., Chung, R. H., Jaworski, J. M., Salyakina, D., Konidari, I., Whitehead, P. L., Wright, H. H., Abramson, R. K., Williams, S. M., Menon, R., Martin, E. R., Haines, J. L., Gilbert, J. R., Cuccaro, M. L. & Pericak-Vance, M. A., Aug 1 2012, In : Human molecular genetics. 21, 15, p. 3513-3523 11 p., dds164.

Research output: Contribution to journalArticle

110 Scopus citations

Evidence for a role of the rare p.A152T variant in mapt in increasing the risk for FTD-spectrum and Alzheimer's diseases

Coppola, G., Chinnathambi, S., Lee, J. J. Y., Dombroski, B. A., Baker, M. C., Soto-ortolaza, A. I., Lee, S. E., Klein, E., Huang, A. Y., Sears, R., Lane, J. R., Karydas, A. M., Kenet, R. O., Biernat, J., Wang, L. S., Cotman, C. W., Decarli, C. S., Levey, A. I., Ringman, J. M., Mendez, M. F. & 210 others, Chui, H. C., Le ber, I., Brice, A., Lupton, M. K., Preza, E., Lovestone, S., Powell, J., Graff-radford, N., Petersen, R. C., Boeve, B. F., Lippa, C. F., Bigio, E. H., Mackenzie, I., Finger, E., Kertesz, A., Caselli, R. J., Gearing, M., Juncos, J. L., Ghetti, B., Spina, S., Bordelon, Y. M., Tourtellotte, W. W., Frosch, M. P., Vonsattel, J. P. G., Zarow, C., Beach, T. G., Albin, R. L., Lieberman, A. P., Lee, V. M., Trojanowski, J. Q., Van deerlin, V. M., Bird, T. D., Galasko, D. R., Masliah, E., White, C. L., Troncoso, J. C., Hannequin, D., Boxer, A. L., Geschwind, M. D., Kumar, S., Mandelkow, E. M., Wszolek, Z. K., Uitti, R. J., Dickson, D. W., Haines, J. L., Mayeux, R., Pericak-vance, M. A., Farrer, L. A., Apostolova, L. G., Arnold, S. E., Baldwin, C. T., Barber, R., Barmada, M. M., Beach, T., Beecham, G. W., Beekly, D., Bennett, D. A., Bigio, E. H., Bird, T. D., Blacker, D., Boeve, B. F., Bowen, J. D., Boxer, A., Burke, J. R., Buros, J., Buxbaum, J. D., Cairns, N. J., Cantwell, L. B., Cao, C., Carlson, C. S., Carney, R. M., Carrasquillo, M. M., Carroll, S. L., Chui, H. C., Clark, D. G., Corneveaux, J., Cotman, C. W., Crane, P. K., Cruchaga, C., Cummings, J. L., De Jager, P. L., DeCarli, C., DeKosky, S. T., Demirci, F. Y., Diaz-Arrastia, R., Dick, M., Dickson, D. W., Dombroski, B. A., Duara, R., Ellis, W. G., Ertekin-Taner, N. N., Evans, D., Faber, K. M., Fallon, K. B., Farlow, M. R., Ferris, S., Foroud, T. M., Frosch, M. P., Galasko, D. R., Gallins, P. J., Ganguli, M., Gearing, M., Geschwind, D. H., Ghetti, B., Gilbert, J. R., Gilman, S., Giordani, B., Glass, J. D., Goate, A. M., Graff-Radford, N. R., Green, R. C., Growdon, J. H., Hakonarson, H., Hamilton, R. L., Hardy, J., Harrell, L. E., Head, E., Honig, L. S., Huentelman, M. J., Hulette, C. M., Hyman, B. T., Jarvik, G. P., Jicha, G. A., Jin, L. W., Johnson, N., Jun, G., Kamboh, M. I., Karlawish, J., Karydas, A., Kauwe, J. S. K., Kaye, J. A., Kim, R., Koo, E. H., Kowall, N. W., Kramer, P., Kukull, W. A., Lah, J. J., Larson, E. B., Levey, A. I., Lieberman, A. P., Lopez, O. L., Lunetta, K. L., Mack, W. J., Marson, D. C., Martin, E. R., Martiniuk, F., Mash, D. C., Masliah, E., McCormick, W. C., McCurry, S. M., McDavid, A. N., McKee, A. C., Mesulam, M., Miller, B. L., Miller, C. A., Miller, J. W., Montine, T. J., Morris, J. C., Myers, A. J., Naj, A. C., Nowotny, P., Parisi, J. E., Perl, D. P., Peskind, E., Petersen, R. C., Poon, W. W., Potter, H., Quinn, J. F., Raj, A., Rajbhandary, R. A., Raskind, M., Reiman, E. M., Reisberg, B., Reitz, C., Ringman, J. M., Roberson, E. D., Rogaeva, E., Rosenberg, R. N., Sano, M., Saykin, A. J., Schneider, J. A., Schneider, L. S., Seeley, W., Shelanski, M. L., Slifer, M. A., Smith, C. D., Sonnen, J. A., Spina, S., George-Hyslop, P. S., Stern, R. A., Tanzi, R. E., Trojanowski, J. Q., Troncoso, J. C., Tsuang, D. W., Van Deerlin, V. M., Vardarajan, B. N., Vinters, H. V., Vonsattel, J. P., Wang, L. S., Weintraub, S., Welsh-Bohmer, K. A., Williamson, J., Woltjer, R. L., Younkin, S. G., Ross, O. A., Rademakers, R., Schellenberg, G. D., Miller, B. L., Mandelkow, E. & Geschwind, D. H., Aug 2012, In : Human molecular genetics. 21, 15, p. 3500-3512 13 p.

Research output: Contribution to journalArticle

136 Scopus citations

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

154 Scopus citations

Reconsidering association testing methods using single-variant test statistics as alternatives to pooling tests for sequence data with rare variants

Kinnamon, D. D., Hershberger, R. E. & Martin, E. R., Feb 17 2012, In : PloS one. 7, 2, e30238.

Research output: Contribution to journalArticle

29 Scopus citations

Single-marker family-based association analysis conditional on parental information

Chung, R. H. & Martin, E. R., Mar 19 2012, Statistical Human Genetics: Methods and Protocols. Elston, R., Sun, S. & Satagopan, J. (eds.). p. 359-370 12 p. (Methods in Molecular Biology; vol. 850).

Research output: Chapter in Book/Report/Conference proceedingChapter

Vitamin D receptor and Alzheimer's disease: A genetic and functional study

Wang, L., Hara, K., Van Baaren, J. M., Price, J. C., Beecham, G. W., Gallins, P. J., Whitehead, P. L., Wang, G., Lu, C., Slifer, M. A., Züchner, S., Martin, E. R., Mash, D., Haines, J. L., Pericak-Vance, M. A. & Gilbert, J. R., Aug 2012, In : Neurobiology of aging. 33, 8, p. 1844.e1-1844.e9

Research output: Contribution to journalArticle

60 Scopus citations

What should the genome-wide significance threshold be? Empirical replication of borderline genetic associations

Panagiotou, O. A., Ioannidis, J. P. A., Hirschhorn, J. N., Abecasis, G. R., Frayling, T. M., McCarthy, M. I., Lindgren, C. M., Beaty, T. H., Eriksson, N., Polychronakos, C., Kathirensan, S., Plenge, R. M., Spritz, R., Payami, H., Martin, E. R., Vance, J., Su, W. H., Chang, Y. S., Bei, J. X., Zeng, Y. X. & 12 others, Paré, G., Faraone, S. V., Neale, B., Anney, R. J., Traynor, B. J., Scherag, A., Hebebrand, J., Hinney, A., Froguel, P., Meyre, D., Chanock, S. J. & Kesheng, W., Feb 1 2012, In : International journal of epidemiology. 41, 1, p. 273-286 14 p., dyr178.

Research output: Contribution to journalArticle

142 Scopus citations
2011

A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism

Hussman, J. P., Chung, R. H., Griswold, A. J., Jaworski, J. M., Salyakina, D., Ma, D., Konidari, I., Whitehead, P. L., Vance, J. M., Martin, E. R., Cuccaro, M. L., Gilbert, J. R., Haines, J. L. & Pericak-Vance, M. A., Dec 1 2011, In : Molecular Autism. 2, 1, 1.

Research output: Contribution to journalArticle

104 Scopus citations

An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males

Chung, R. H., Ma, D., Wang, K., Hedges, D. J., Jaworski, J. M., Gilbert, J. R., Cuccaro, M. L., Wright, H. H., Abramson, R. K., Konidari, I., Whitehead, P. L., Schellenberg, G. D., Hakonarson, H., Haines, J. L., Pericak-Vance, M. A. & Martin, E. R., Dec 1 2011, In : Molecular Autism. 2, 1, 18.

Research output: Contribution to journalArticle

23 Scopus citations