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Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain
Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain
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Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain

Gibbs, J Raphael ; van der Brug, Marcel P ; Hernandez, Dena G ; Traynor, Bryan J ; Nalls, Michael A ; Lai, Shiao-Lin ; Arepalli, Sampath ; Dillman, Allissa ; Rafferty, Ian P ; Troncoso, Juan ; Johnson, Robert ; Zielke, H Ronald ; Ferrucci, Luigi ; Longo, Dan L ; Cookson, Mark R ; Singleton, Andrew B Flint, Jonathan

PLoS genetics, 2010-05, Vol.6 (5), p.e1000952-e1000952 [Periódico revisado por pares]

United States: Public Library of Science

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2
Distinct DNA methylation changes highly correlated with chronological age in the human brain
Distinct DNA methylation changes highly correlated with chronological age in the human brain
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Distinct DNA methylation changes highly correlated with chronological age in the human brain

HERNANDEZ, Dena G ; NALLS, Michael A ; SINGLETON, Andrew B ; RAPHAEL GIBBS, J ; AREPALLI, Sampath ; VAN DER BRUG, Marcel ; CHONG, Sean ; MOORE, Matthew ; LONGO, Dan L ; COOKSON, Mark R ; TRAYNOR, Bryan J

Human molecular genetics, 2011-03, Vol.20 (6), p.1164-1172 [Periódico revisado por pares]

Oxford: Oxford University Press

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3
MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies
MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies
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MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies

TRABZUNI, Daniah ; WRAY, Selina ; AREPALLI, Sampath ; SINGLETON, Andrew B ; COOKSON, Mark R ; PITTMAN, Alan M ; DE SILVA, Rohan ; WEALE, Michael E ; HARDY, John ; RYTEN, Mina ; VANDROVCOVA, Jana ; RAMASAMY, Adaikalavan ; WALKER, Robert ; SMITH, Colin ; LUK, Connie ; RAPHAEL GIBBS, J ; DILLMAN, Allissa ; HERNANDEZ, Dena G

Human molecular genetics, 2012-09, Vol.21 (18), p.4094-4103 [Periódico revisado por pares]

Oxford: Oxford University Press

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4
Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study
Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study
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Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study

Laaksovirta, Hannu, MD ; Peuralinna, Terhi, MSc ; Schymick, Jennifer C, PhD ; Scholz, Sonja W, MD ; Lai, Shaoi-Lin, MD ; Myllykangas, Liisa, MD ; Sulkava, Raimo, MD ; Jansson, Lilja ; Hernandez, Dena G, MSc ; Gibbs, J Raphael, BS ; Nalls, Michael A, PhD ; Heckerman, David, MD ; Tienari, Pentti J, MD ; Traynor, Bryan J, Dr

Lancet neurology, 2010-10, Vol.9 (10), p.978-985 [Periódico revisado por pares]

England: Elsevier Ltd

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5
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease
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Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

JOHNSON, Janel O ; RAPHAEL GIBBS, J ; REILLY, Mary M ; MUNTONI, Francesco ; ABRAMZON, Yevgeniya ; HOULDEN, Henry ; SINGLETON, Andrew B ; MEGARBANE, Andre ; ANDONI URTIZBEREA, J ; HERNANDEZ, Dena G ; REGHAN FOLEY, A ; AREPALLI, Sampath ; PANDRAUD, Amelie ; SIMON-SANCHEZ, Javier ; CLAYTON, Peter

Brain (London, England : 1878), 2012-09, Vol.135 (Pt 9), p.2875-2882 [Periódico revisado por pares]

Oxford: Oxford University Press

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6
Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS
Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS
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Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Johnson, Janel O. ; Mandrioli, Jessica ; Benatar, Michael ; Abramzon, Yevgeniya ; Van Deerlin, Vivianna M. ; Trojanowski, John Q. ; Gibbs, J. Raphael ; Brunetti, Maura ; Gronka, Susan ; Wuu, Joanne ; Ding, Jinhui ; McCluskey, Leo ; Martinez-Lage, Maria ; Falcone, Dana ; Hernandez, Dena G. ; Arepalli, Sampath ; Chong, Sean ; Schymick, Jennifer C. ; Rothstein, Jeffrey ; Landi, Francesco ; Wang, Yong-Dong ; Calvo, Andrea ; Mora, Gabriele ; Sabatelli, Mario ; Monsurrò, Maria Rosaria ; Battistini, Stefania ; Salvi, Fabrizio ; Spataro, Rossella ; Sola, Patrizia ; Borghero, Giuseppe ; Galassi, Giuliana ; Scholz, Sonja W. ; Taylor, J. Paul ; Restagno, Gabriella ; Chiò, Adriano ; Traynor, Bryan J.

Neuron (Cambridge, Mass.), 2010-12, Vol.68 (5), p.857-864 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Genome-wide Screen Identifies rs646776 near Sortilin as a Regulator of Progranulin Levels in Human Plasma
Genome-wide Screen Identifies rs646776 near Sortilin as a Regulator of Progranulin Levels in Human Plasma
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Genome-wide Screen Identifies rs646776 near Sortilin as a Regulator of Progranulin Levels in Human Plasma

Carrasquillo, Minerva M. ; Nicholson, Alexandra M. ; Finch, NiCole ; Gibbs, J. Raphael ; Baker, Matt ; Rutherford, Nicola J. ; Hunter, Talisha A. ; DeJesus-Hernandez, Mariely ; Bisceglio, Gina D. ; Mackenzie, Ian R. ; Singleton, Andrew ; Cookson, Mark R. ; Crook, Julia E. ; Dillman, Allissa ; Hernandez, Dena ; Petersen, Ronald C. ; Graff-Radford, Neill R. ; Younkin, Steven G. ; Rademakers, Rosa

American journal of human genetics, 2010-12, Vol.87 (6), p.890-897 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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8
Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain
Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain
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Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain

Hernandez, Dena G ; Nalls, Mike A ; Moore, Matthew ; Chong, Sean ; Dillman, Allissa ; Trabzuni, Daniah ; Gibbs, J. Raphael ; Ryten, Mina ; Arepalli, Sampath ; Weale, Michael E ; Zonderman, Alan B ; Troncoso, Juan ; O'Brien, Richard ; Walker, Robert ; Smith, Colin ; Bandinelli, Stefania ; Traynor, Bryan J ; Hardy, John ; Singleton, Andrew B ; Cookson, Mark R

Neurobiology of disease, 2012-07, Vol.47 (1), p.20-28 [Periódico revisado por pares]

United States: Elsevier Inc

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9
Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases
Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases
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Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases

SAILER, Anna ; SCHOLZ, Sonja W ; HARDY, John ; FEDEROFF, Howard J ; TRAYNOR, Bryan J ; SINGLETON, Andrew B ; HOULDEN, Henry ; RAPHAEL GIBBS, J ; TUCCI, Arianna ; JOHNSON, Janel O ; WOOD, Nicholas W ; PLAGNOL, Vincent ; HUMMERICH, Holger ; JINHUI DING ; HERNANDEZ, Dena

Neurology, 2012-07, Vol.79 (2), p.127-131 [Periódico revisado por pares]

Hagerstown, MD: Lippincott Williams & Wilkins

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10
EXOME SEQUENCING IDENTIFIES A NOVEL TRPV4 MUTATION IN A CMT2C FAMILY
EXOME SEQUENCING IDENTIFIES A NOVEL TRPV4 MUTATION IN A CMT2C FAMILY
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EXOME SEQUENCING IDENTIFIES A NOVEL TRPV4 MUTATION IN A CMT2C FAMILY

LANDOURE, Guida ; SULLIVAN, Jeremy M ; TRAYNOR, Bryan J ; BURNETT, Barrington G ; SUMNER, Charlotte J ; JOHNSON, Janel O ; MUNNS, Clare H ; YIJUN SHI ; DIALLO, Oumarou ; RAPHAEL GIBBS, J ; GAUDET, Rachelle ; LUDLOW, Christy L ; FISCHBECK, Kenneth H

Neurology, 2012-07, Vol.79 (2), p.192-194 [Periódico revisado por pares]

Hagerstown, MD: Lippincott Williams & Wilkins

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