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Results: 1 to 20 of 181

1.

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

Escott-Price V, Bellenguez C, Wang LS, Choi SH, Harold D, Jones L, Holmans P, Gerrish A, Vedernikov A, Richards A, DeStefano AL, Lambert JC, Ibrahim-Verbaas CA, Naj AC, Sims R, Jun G, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thornton-Wells TA, Denning N, Smith AV, Chouraki V, Thomas C, Ikram MA, Zelenika D, Vardarajan BN, Kamatani Y, Lin CF, Schmidt H, Kunkle B, Dunstan ML, Vronskaya M; United Kingdom Brain Expression Consortium, Johnson AD, Ruiz A, Bihoreau MT, Reitz C, Pasquier F, Hollingworth P, Hanon O, Fitzpatrick AL, Buxbaum JD, Campion D, Crane PK, Baldwin C, Becker T, Gudnason V, Cruchaga C, Craig D, Amin N, Berr C, Lopez OL, De Jager PL, Deramecourt V, Johnston JA, Evans D, Lovestone S, Letenneur L, Hernández I, Rubinsztein DC, Eiriksdottir G, Sleegers K, Goate AM, Fiévet N, Huentelman MJ, Gill M, Brown K, Kamboh MI, Keller L, Barberger-Gateau P, McGuinness B, Larson EB, Myers AJ, Dufouil C, Todd S, Wallon D, Love S, Rogaeva E, Gallacher J, George-Hyslop PS, Clarimon J, Lleo A, Bayer A, Tsuang DW, Yu L, Tsolaki M, Bossù P, Spalletta G, Proitsi P, Collinge J, Sorbi S, Garcia FS, Fox NC, Hardy J, Naranjo MC, Bosco P, Clarke R, Brayne C, Galimberti D, Scarpini E, Bonuccelli U, Mancuso M, Siciliano G, Moebus S, Mecocci P, Zompo MD, 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 MM, Ingelsson M, Beekly D, Alvarez V, Zou F, Valladares O, Younkin SG, Coto E, Hamilton-Nelson KL, Gu W, Razquin C, Pastor P, Mateo I, Owen MJ, Faber KM, Jonsson PV, Combarros O, O'Donovan MC, Cantwell LB, Soininen H, Blacker D, Mead S, Mosley TH Jr, Bennett DA, Harris TB, Fratiglioni L, Holmes C, de Bruijn RF, Passmore P, Montine TJ, Bettens K, Rotter JI, Brice A, Morgan K, Foroud TM, Kukull WA, Hannequin D, Powell JF, Nalls MA, Ritchie K, Lunetta KL, Kauwe JS, Boerwinkle E, Riemenschneider M, Boada M, Hiltunen M, Martin ER, Schmidt R, Rujescu D, Dartigues JF, Mayeux R, Tzourio C, Hofman A, Nöthen MM, Graff C, Psaty BM, Haines JL, Lathrop M, Pericak-Vance MA, Launer LJ, Van Broeckhoven C, Farrer LA, van Duijn CM, Ramirez A, Seshadri S, Schellenberg GD, Amouyel P, Williams J.

PLoS One. 2014 Jun 12;9(6):e94661. doi: 10.1371/journal.pone.0094661. eCollection 2014.

PMID:
24922517
[PubMed - in process]
Free PMC Article
2.

Valid Monte Carlo permutation tests for genetic case-control studies with missing genotypes.

Kinnamon DD, Martin ER.

Genet Epidemiol. 2014 May;38(4):325-44. doi: 10.1002/gepi.21805. Epub 2014 Apr 10.

PMID:
24723341
[PubMed - in process]
3.

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

Huang A, Martin ER, Vance JM, Cai X.

Genet Epidemiol. 2014 May;38(4):300-9. doi: 10.1002/gepi.21803. Epub 2014 Apr 9.

PMID:
24719383
[PubMed - in process]
4.

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

Nuytemans K, Inchausti V, Beecham GW, Wang L, Dickson DW, Trojanowski JQ, Lee VM, Mash DC, Frosch MP, Foroud TM, Honig LS, Montine TJ, Dawson TM, Martin ER, Scott WK, Vance JM.

Mov Disord. 2014 May;29(6):827-30. doi: 10.1002/mds.25838. Epub 2014 Feb 26.

PMID:
24573903
[PubMed - in process]
5.

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

Cukier HN, Dueker ND, Slifer SH, Lee JM, Whitehead PL, Lalanne E, Leyva N, Konidari I, Gentry RC, Hulme WF, Booven DV, Mayo V, Hofmann NK, Schmidt MA, Martin ER, Haines JL, Cuccaro ML, Gilbert JR, Pericak-Vance MA.

Mol Autism. 2014 Jan 10;5(1):1. doi: 10.1186/2040-2392-5-1.

PMID:
24410847
[PubMed]
Free PMC Article
6.

Reconstructing the population genetic history of the Caribbean.

Moreno-Estrada A, Gravel S, Zakharia F, McCauley JL, Byrnes JK, Gignoux CR, Ortiz-Tello PA, Martínez RJ, Hedges DJ, Morris RW, Eng C, Sandoval K, Acevedo-Acevedo S, Norman PJ, Layrisse Z, Parham P, Martínez-Cruzado JC, Burchard EG, Cuccaro ML, Martin ER, Bustamante CD.

PLoS Genet. 2013 Nov;9(11):e1003925. doi: 10.1371/journal.pgen.1003925. Epub 2013 Nov 14.

PMID:
24244192
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Shaping opportunities for the new health sciences librarian.

Martin ER.

J Med Libr Assoc. 2013 Oct;101(4):252-3. doi: 10.3163/1536-5050.101.4.004. No abstract available.

PMID:
24163594
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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

Lambert JC, Ibrahim-Verbaas CA, Harold D, Naj AC, Sims R, Bellenguez C, DeStafano AL, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thorton-Wells TA, Jones N, Smith AV, Chouraki V, Thomas C, Ikram MA, Zelenika D, Vardarajan BN, Kamatani Y, Lin CF, Gerrish A, Schmidt H, Kunkle B, Dunstan ML, Ruiz A, Bihoreau MT, Choi SH, Reitz C, Pasquier F, Cruchaga C, Craig D, Amin N, Berr C, Lopez OL, De Jager PL, Deramecourt V, Johnston JA, Evans D, Lovestone S, Letenneur L, Morón FJ, Rubinsztein DC, Eiriksdottir G, Sleegers K, Goate AM, Fiévet N, Huentelman MW, Gill M, Brown K, Kamboh MI, Keller L, Barberger-Gateau P, McGuiness B, Larson EB, Green R, Myers AJ, Dufouil C, Todd S, Wallon D, Love S, Rogaeva E, Gallacher J, St George-Hyslop P, Clarimon J, Lleo A, Bayer A, Tsuang DW, Yu L, Tsolaki M, Bossù P, Spalletta G, Proitsi P, Collinge J, Sorbi S, Sanchez-Garcia F, Fox NC, Hardy J, Deniz Naranjo MC, Bosco P, Clarke R, Brayne C, Galimberti D, Mancuso M, Matthews F; European Alzheimer's Disease Initiative (EADI); Genetic and Environmental Risk in Alzheimer's Disease; Alzheimer's Disease Genetic Consortium; Cohorts for Heart and Aging Research in Genomic Epidemiology, Moebus S, Mecocci P, Del Zompo M, Maier W, Hampel H, Pilotto A, Bullido M, Panza F, Caffarra P, Nacmias B, Gilbert JR, Mayhaus M, Lannefelt L, Hakonarson H, Pichler S, Carrasquillo MM, Ingelsson M, Beekly D, Alvarez V, Zou F, Valladares O, Younkin SG, Coto E, Hamilton-Nelson KL, Gu W, Razquin C, Pastor P, Mateo I, Owen MJ, Faber KM, Jonsson PV, Combarros O, O'Donovan MC, Cantwell LB, Soininen H, Blacker D, Mead S, Mosley TH Jr, Bennett DA, Harris TB, Fratiglioni L, Holmes C, de Bruijn RF, Passmore P, Montine TJ, Bettens K, Rotter JI, Brice A, Morgan K, Foroud TM, Kukull WA, Hannequin D, Powell JF, Nalls MA, Ritchie K, Lunetta KL, Kauwe JS, Boerwinkle E, Riemenschneider M, Boada M, Hiltuenen M, Martin ER, Schmidt R, Rujescu D, Wang LS, Dartigues JF, Mayeux R, Tzourio C, Hofman A, Nöthen MM, Graff C, Psaty BM, Jones L, Haines JL, Holmans PA, Lathrop M, Pericak-Vance MA, Launer LJ, Farrer LA, van Duijn CM, Van Broeckhoven C, Moskvina V, Seshadri S, Williams J, Schellenberg GD, Amouyel P.

Nat Genet. 2013 Dec;45(12):1452-8. doi: 10.1038/ng.2802. Epub 2013 Oct 27.

PMID:
24162737
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Pathway-PDT: a flexible pathway analysis tool for nuclear families.

Park YS, Schmidt M, Martin ER, Pericak-Vance MA, Chung RH.

BMC Bioinformatics. 2013 Sep 4;14:267. doi: 10.1186/1471-2105-14-267.

PMID:
24006871
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Ferric carboxymaltose in patients with iron-deficiency anemia and impaired renal function: the REPAIR-IDA trial.

Onken JE, Bregman DB, Harrington RA, Morris D, Buerkert J, Hamerski D, Iftikhar H, Mangoo-Karim R, Martin ER, Martinez CO, Newman GE, Qunibi WY, Ross DL, Singh B, Smith MT, Butcher A, Koch TA, Goodnough LT.

Nephrol Dial Transplant. 2014 Apr;29(4):833-42. doi: 10.1093/ndt/gft251. Epub 2013 Aug 20.

PMID:
23963731
[PubMed - in process]
11.

C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease.

Nuytemans K, Bademci G, Kohli MM, Beecham GW, Wang L, Young JI, Nahab F, Martin ER, Gilbert JR, Benatar M, Haines JL, Scott WK, Züchner S, Pericak-Vance MA, Vance JM.

Ann Hum Genet. 2013 Sep;77(5):351-63. doi: 10.1111/ahg.12033. Epub 2013 Jul 12.

PMID:
23845100
[PubMed - in process]
Free PMC Article
12.

Characteristics of incident geographic atrophy in the complications of age-related macular degeneration prevention trial.

Brader HS, Ying GS, Martin ER, Maguire MG; Complications of Age-Related Macular Degeneration Prevention Trial (CAPT) Research Group.

Ophthalmology. 2013 Sep;120(9):1871-9. doi: 10.1016/j.ophtha.2013.01.049. Epub 2013 Apr 25.

PMID:
23622873
[PubMed - indexed for MEDLINE]
13.

High-resolution survey in familial Parkinson disease genes reveals multiple independent copy number variation events in PARK2.

Wang L, Nuytemans K, Bademci G, Jauregui C, Martin ER, Scott WK, Vance JM, Zuchner S.

Hum Mutat. 2013 Aug;34(8):1071-4. doi: 10.1002/humu.22344. Epub 2013 May 28.

PMID:
23616242
[PubMed - indexed for MEDLINE]
14.

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 ER, Zuchner S, Guo S, Gonzalez M, Hedges DJ, Robertson PD, Krumm N, Nickerson DA, Hershberger RE; National Heart, Lung, and Blood Institute GO Exome Sequencing Project and the Exome Sequencing Project Family Studies Project Team.

Circ Cardiovasc Genet. 2013 Apr;6(2):144-53. doi: 10.1161/CIRCGENETICS.111.000062. Epub 2013 Feb 15.

PMID:
23418287
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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

Nuytemans K, Bademci G, Inchausti V, Dressen A, Kinnamon DD, Mehta A, Wang L, Züchner S, Beecham GW, Martin ER, Scott WK, Vance JM.

Neurology. 2013 Mar 12;80(11):982-9. doi: 10.1212/WNL.0b013e31828727d4. Epub 2013 Feb 13.

PMID:
23408866
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Evaluating mitochondrial DNA variation in autism spectrum disorders.

Hadjixenofontos A, Schmidt MA, Whitehead PL, Konidari I, Hedges DJ, Wright HH, Abramson RK, Menon R, Williams SM, Cuccaro ML, Haines JL, Gilbert JR, Pericak-Vance MA, Martin ER, McCauley JL.

Ann Hum Genet. 2013 Jan;77(1):9-21. doi: 10.1111/j.1469-1809.2012.00736.x. Epub 2012 Nov 6.

PMID:
23130936
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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

Kohli MA, John-Williams K, Rajbhandary R, Naj A, Whitehead P, Hamilton K, Carney RM, Wright C, Crocco E, Gwirtzman HE, Lang R, Beecham G, Martin ER, Gilbert J, Benatar M, Small GW, Mash D, Byrd G, Haines JL, Pericak-Vance MA, Züchner S.

Neurobiol Aging. 2013 May;34(5):1519.e5-12. doi: 10.1016/j.neurobiolaging.2012.10.003. Epub 2012 Oct 27.

PMID:
23107433
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

An open-label, sequential, dose-finding study of peginesatide for the maintenance treatment of anemia in chronic hemodialysis patients.

Besarab A, Zeig SN, Martin ER, Pergola PE, Whittier FC, Zabaneh RI, Schiller B, Mayo M, Francisco CA, Polu KR, Duliege AM.

BMC Nephrol. 2012 Aug 30;13:95. doi: 10.1186/1471-2369-13-95.

PMID:
22935486
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

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

Griswold AJ, Ma D, Cukier HN, Nations LD, Schmidt MA, Chung RH, Jaworski JM, Salyakina D, Konidari I, Whitehead PL, Wright HH, Abramson RK, Williams SM, Menon R, Martin ER, Haines JL, Gilbert JR, Cuccaro ML, Pericak-Vance MA.

Hum Mol Genet. 2012 Aug 1;21(15):3513-23. doi: 10.1093/hmg/dds164. Epub 2012 Apr 27.

PMID:
22543975
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.

Pankratz N, Beecham GW, DeStefano AL, Dawson TM, Doheny KF, Factor SA, Hamza TH, Hung AY, Hyman BT, Ivinson AJ, Krainc D, Latourelle JC, Clark LN, Marder K, Martin ER, Mayeux R, Ross OA, Scherzer CR, Simon DK, Tanner C, Vance JM, Wszolek ZK, Zabetian CP, Myers RH, Payami H, Scott WK, Foroud T; PD GWAS Consortium.

Ann Neurol. 2012 Mar;71(3):370-84. doi: 10.1002/ana.22687.

PMID:
22451204
[PubMed - indexed for MEDLINE]
Free PMC Article

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