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Page 1
Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci.
Holton P, Ryten M, Nalls M, Trabzuni D, Weale ME, Hernandez D, Crehan H, Gibbs JR, Mayeux R, Haines JL, Farrer LA, Pericak-Vance MA, Schellenberg GD; Alzheimer's Disease Genetics Consortium; Ramirez-Restrepo M, Engel A, Myers AJ, Corneveaux JJ, Huentelman MJ, Dillman A, Cookson MR, Reiman EM, Singleton A, Hardy J, Guerreiro R. Holton P, et al. Among authors: dillman a. Ann Hum Genet. 2013 Mar;77(2):85-105. doi: 10.1111/ahg.12000. Epub 2013 Jan 30. Ann Hum Genet. 2013. PMID: 23360175 Free PMC article.
Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain.
Gibbs JR, van der Brug MP, Hernandez DG, Traynor BJ, Nalls MA, Lai SL, Arepalli S, Dillman A, Rafferty IP, Troncoso J, Johnson R, Zielke HR, Ferrucci L, Longo DL, Cookson MR, Singleton AB. Gibbs JR, et al. Among authors: dillman a. PLoS Genet. 2010 May 13;6(5):e1000952. doi: 10.1371/journal.pgen.1000952. PLoS Genet. 2010. PMID: 20485568 Free PMC article.
Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients.
Traynor BJ, Nalls M, Lai SL, Gibbs RJ, Schymick JC, Arepalli S, Hernandez D, van der Brug MP, Johnson JO, Dillman A, Cookson M, Moglia C, Calvo A, Restagno G, Mora G, Chiò A. Traynor BJ, et al. Among authors: dillman a. Proc Natl Acad Sci U S A. 2010 Jul 6;107(27):12335-8. doi: 10.1073/pnas.0914079107. Epub 2010 Jun 21. Proc Natl Acad Sci U S A. 2010. PMID: 20566859 Free PMC article.
Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma.
Carrasquillo MM, Nicholson AM, Finch N, Gibbs JR, Baker M, Rutherford NJ, Hunter TA, DeJesus-Hernandez M, Bisceglio GD, Mackenzie IR, Singleton A, Cookson MR, Crook JE, Dillman A, Hernandez D, Petersen RC, Graff-Radford NR, Younkin SG, Rademakers R. Carrasquillo MM, et al. Among authors: dillman a. Am J Hum Genet. 2010 Dec 10;87(6):890-7. doi: 10.1016/j.ajhg.2010.11.002. Epub 2010 Nov 18. Am J Hum Genet. 2010. PMID: 21087763 Free PMC article.
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.
Höglinger GU, Melhem NM, Dickson DW, Sleiman PM, Wang LS, Klei L, Rademakers R, de Silva R, Litvan I, Riley DE, van Swieten JC, Heutink P, Wszolek ZK, Uitti RJ, Vandrovcova J, Hurtig HI, Gross RG, Maetzler W, Goldwurm S, Tolosa E, Borroni B, Pastor P; PSP Genetics Study Group; Cantwell LB, Han MR, Dillman A, van der Brug MP, Gibbs JR, Cookson MR, Hernandez DG, Singleton AB, Farrer MJ, Yu CE, Golbe LI, Revesz T, Hardy J, Lees AJ, Devlin B, Hakonarson H, Müller U, Schellenberg GD. Höglinger GU, et al. Among authors: dillman a. Nat Genet. 2011 Jun 19;43(7):699-705. doi: 10.1038/ng.859. Nat Genet. 2011. PMID: 21685912 Free PMC article.
A two-stage meta-analysis identifies several new loci for Parkinson's disease.
International Parkinson's Disease Genomics Consortium (IPDGC); Wellcome Trust Case Control Consortium 2 (WTCCC2). International Parkinson's Disease Genomics Consortium (IPDGC), et al. PLoS Genet. 2011 Jun;7(6):e1002142. doi: 10.1371/journal.pgen.1002142. Epub 2011 Jun 30. PLoS Genet. 2011. PMID: 21738488 Free PMC article.
Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue.
Devine MJ, Kaganovich A, Ryten M, Mamais A, Trabzuni D, Manzoni C, McGoldrick P, Chan D, Dillman A, Zerle J, Horan S, Taanman JW, Hardy J, Marti-Masso JF, Healy D, Schapira AH, Wolozin B, Bandopadhyay R, Cookson MR, van der Brug MP, Lewis PA. Devine MJ, et al. Among authors: dillman a. PLoS One. 2011;6(7):e22489. doi: 10.1371/journal.pone.0022489. Epub 2011 Jul 22. PLoS One. 2011. PMID: 21799870 Free PMC article.
Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain.
Hernandez DG, Nalls MA, Moore M, Chong S, Dillman A, Trabzuni D, Gibbs JR, Ryten M, Arepalli S, Weale ME, Zonderman AB, Troncoso J, O'Brien R, Walker R, Smith C, Bandinelli S, Traynor BJ, Hardy J, Singleton AB, Cookson MR. Hernandez DG, et al. Among authors: dillman a. Neurobiol Dis. 2012 Jul;47(1):20-8. doi: 10.1016/j.nbd.2012.03.020. Epub 2012 Mar 12. Neurobiol Dis. 2012. PMID: 22433082 Free PMC article.
MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies.
Trabzuni D, Wray S, Vandrovcova J, Ramasamy A, Walker R, Smith C, Luk C, Gibbs JR, Dillman A, Hernandez DG, Arepalli S, Singleton AB, Cookson MR, Pittman AM, de Silva R, Weale ME, Hardy J, Ryten M. Trabzuni D, et al. Among authors: dillman a. Hum Mol Genet. 2012 Sep 15;21(18):4094-103. doi: 10.1093/hmg/dds238. Epub 2012 Jun 20. Hum Mol Genet. 2012. PMID: 22723018 Free PMC article.
Use of support vector machines for disease risk prediction in genome-wide association studies: concerns and opportunities.
Mittag F, Büchel F, Saad M, Jahn A, Schulte C, Bochdanovits Z, Simón-Sánchez J, Nalls MA, Keller M, Hernandez DG, Gibbs JR, Lesage S, Brice A, Heutink P, Martinez M, Wood NW, Hardy J, Singleton AB, Zell A, Gasser T, Sharma M; International Parkinson’s Disease Genomics Consortium. Mittag F, et al. Hum Mutat. 2012 Dec;33(12):1708-18. doi: 10.1002/humu.22161. Epub 2012 Aug 3. Hum Mutat. 2012. PMID: 22777693 Free PMC article.
133 results