Application of Genome-Wide Single Nucleotide Polymorphism Typing: Simple Association and Beyond

por Gibbs, J. Raphael, Singleton, Andrew
Publicado 2006

MIDN locus structural variants and Parkinson's Disease risk

por Billingsley, Kimberley J., Bandres‐Ciga, Sara, Ding, Jinhui, Hernandez, Dena, Gibbs, J. Raphael, Blauwendraat, Cornelis
Publicado 2020

Messenger RNA expression, splicing and editing in the embryonic and adult mouse cerebral cortex

por Dillman, Allissa A., Hauser, David N., Gibbs, J. Raphael, Nalls, Michael A., McCoy, Melissa K., Rudenko, Iakov N., Galter, Dagmar, Cookson, Mark R.
Publicado 2013

Transcriptomic profiling of the human brain reveals that altered synaptic gene expression is associated with chronological aging

por Dillman, Allissa A., Majounie, Elisa, Ding, Jinhui, Gibbs, J. Raphael, Hernandez, Dena, Arepalli, Sampath, Traynor, Bryan J., Singleton, Andrew B., Galter, Dagmar, Cookson, Mark R.
Publicado 2017

Exploring dementia and neuronal ceroid lipofuscinosis genes in 100 FTD-like patients from 6 towns and rural villages on the Adriatic Sea cost of Apulia

por Sassi, Celeste, Capozzo, Rosa, Hammer, Monia, Zecca, Chiara, Federoff, Monica, Blauwendraat, Cornelis, Bernstein, Nick, Ding, Jinhui, Gibbs, J. Raphael, Price, Timothy, Singleton, Andrew, Logroscino, Giancarlo
Publicado 2021

Comprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe

por Blauwendraat, Cornelis, Francescatto, Margherita, Gibbs, J. Raphael, Jansen, Iris E., Simón-Sánchez, Javier, Hernandez, Dena G., Dillman, Allissa A., Singleton, Andrew B., Cookson, Mark R., Rizzu, Patrizia, Heutink, Peter
Publicado 2016

Divergent patterns of healthy aging across human brain regions at single-cell resolution reveal links to neurodegenerative disease

por Duffy, Megan F., Ding, Jinhui, Langston, Rebekah G., Shah, Syed I., Nalls, Mike A., Scholz, Sonja W., Whitaker, D. Thad, Auluck, Pavan K., Marenco, Stefano, Gibbs, J. Raphael, Cookson, Mark R.
Publicado 2023

Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients

por Guven, Gamze, Lohmann, Ebba, Bras, Jose, Gibbs, J. Raphael, Gurvit, Hakan, Bilgic, Basar, Hanagasi, Hasmet, Rizzu, Patrizia, Heutink, Peter, Emre, Murat, Erginel-Unaltuna, Nihan, Just, Walter, Hardy, John, Singleton, Andrew, Guerreiro, Rita
Publicado 2016

Measures of Autozygosity in Decline: Globalization, Urbanization, and Its Implications for Medical Genetics

por Nalls, Michael A., Simon-Sanchez, Javier, Gibbs, J. Raphael, Paisan-Ruiz, Coro, Bras, Jose Tomas, Tanaka, Toshiko, Matarin, Mar, Scholz, Sonja, Weitz, Charles, Harris, Tamara B., Ferrucci, Luigi, Hardy, John, Singleton, Andrew B.
Publicado 2009

Genetic Variability in CLU and Its Association with Alzheimer's Disease

por Guerreiro, Rita J., Beck, John, Gibbs, J. Raphael, Santana, Isabel, Rossor, Martin N., Schott, Jonathan M., Nalls, Michael A., Ribeiro, Helena, Santiago, Beatriz, Fox, Nick C., Oliveira, Catarina, Collinge, John, Mead, Simon, Singleton, Andrew, Hardy, John
Publicado 2010

Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies

por Ramasamy, Adaikalavan, Trabzuni, Daniah, Gibbs, J. Raphael, Dillman, Allissa, Hernandez, Dena G., Arepalli, Sampath, Walker, Robert, Smith, Colin, Ilori, Gigaloluwa Peter, Shabalin, Andrey A., Li, Yun, Singleton, Andrew B., Cookson, Mark R., Hardy, John, Ryten, Mina, Weale, Michael E.
Publicado 2013

Allelic heterogeneity and more detailed analyses of known loci explain additional phenotypic variation and reveal complex patterns of association

por Wood, Andrew R., Hernandez, Dena G., Nalls, Michael A., Yaghootkar, Hanieh, Gibbs, J. Raphael, Harries, Lorna W., Chong, Sean, Moore, Matthew, Weedon, Michael N., Guralnik, Jack M., Bandinelli, Stefania, Murray, Anna, Ferrucci, Luigi, Singleton, Andrew B, Melzer, David, Frayling, Timothy M.
Publicado 2011

Long-read sequencing resolves a complex structural variant in PRKN Parkinson’s disease

por Daida, Kensuke, Funayama, Manabu, Billingsley, Kimberley J, Malik, Laksh, Miano-Burkhardt, Abigail, Leonard, Hampton L., Makarious, Mary B., Iwaki, Hirotaka, Ding, Jinhui, Gibbs, J. Raphael, Ishiguro, Mayu, Yoshino, Hiroyo, Ogaki, Kotaro, Oyama, Genko, Nishioka, Kenya, Nonaka, Risa, Akamatsu, Wado, Blauwendraat, Cornelis, Hattori, Nobutaka
Publicado 2023

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

por Trabzuni, Daniah, Wray, Selina, Vandrovcova, Jana, Ramasamy, Adaikalavan, Walker, Robert, Smith, Colin, Luk, Connie, Gibbs, J. Raphael, Dillman, Allissa, Hernandez, Dena G., Arepalli, Sampath, Singleton, Andrew B., Cookson, Mark R., Pittman, Alan M., de Silva, Rohan, Weale, Michael E., Hardy, John, Ryten, Mina
Publicado 2012

Imputation of Variants from the 1000 Genomes Project Modestly Improves Known Associations and Can Identify Low-frequency Variant - Phenotype Associations Undetected by HapMap Based...

por Wood, Andrew R., Perry, John R. B., Tanaka, Toshiko, Hernandez, Dena G., Zheng, Hou-Feng, Melzer, David, Gibbs, J. Raphael, Nalls, Michael A., Weedon, Michael N., Spector, Tim D., Richards, J. Brent, Bandinelli, Stefania, Ferrucci, Luigi, Singleton, Andrew B., Frayling, Timothy M.
Publicado 2013

Abundant Quantitative Trait Loci Exist for DNA Methylation and Gene Expression in Human Brain

por 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.
Publicado 2010

Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset

por Billingsley, Kimberley J., Barbosa, Ines A., Bandrés-Ciga, Sara, Quinn, John P., Bubb, Vivien J., Deshpande, Charu, Botia, Juan A., Reynolds, Regina H., Zhang, David, Simpson, Michael A., Blauwendraat, Cornelis, Gan-Or, Ziv, Gibbs, J. Raphael, Nalls, Mike A., Singleton, Andrew, Ryten, Mina, Koks, Sulev
Publicado 2019

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

por 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.
Publicado 2012

The Parkinson's Disease Mendelian Randomization Research Portal

por Noyce, Alastair J., Bandres‐Ciga, Sara, Kim, Jonggeol, Heilbron, Karl, Kia, Demis, Hemani, Gibran, Xue, Angli, Lawlor, Debbie A., Smith, George Davey, Duran, Raquel, Gan‐Or, Ziv, Blauwendraat, Cornelis, Gibbs, J. Raphael, Hinds, David A., Yang, Jian, Visscher, Peter, Cuzick, Jack, Morris, Huw, Hardy, John, Wood, Nicholas W., Nalls, Mike A., Singleton, Andrew B.
Publicado 2019

Accelerating Medicines Partnership: Parkinson's Disease. Genetic Resource

por Iwaki, Hirotaka, Leonard, Hampton L., Makarious, Mary B., Bookman, Matt, Landin, Barry, Vismer, David, Casey, Bradford, Gibbs, J. Raphael, Hernandez, Dena G., Blauwendraat, Cornelis, Vitale, Daniel, Song, Yeajin, Kumar, Dinesh, Dalgard, Clifton L., Sadeghi, Mahdiar, Dong, Xianjun, Misquitta, Leonie, Scholz, Sonja W., Scherzer, Clemens R., Nalls, Mike A., Biswas, Shameek, Singleton, Andrew B.
Publicado 2021