Gibbs, J. Raphael

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

Renton, A. E., Majounie, E., Waite, A., Simón-Sánchez, J., Rollinson, S., Gibbs, J. R., Schymick, J. C., Laaksovirta, H., van Swieten, J. C., Myllykangas, L., et al. (2011) · Neuron

Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative Diseases

Cited by 4,409

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Johnson, J. O., Mandrioli, J., Benatar, M., Abramzon, Y., Van Deerlin, V. M., Trojanowski, J. Q., Gibbs, J. R., Brunetti, M., Gronka, S., Wuu, J., et al. (2010) · Neuron

Amyotrophic Lateral Sclerosis ResearchHereditary Neurological Disorders

Cited by 1,235

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

Gibbs, J. R., van der Brug, M. P., Hernandez, D. G., Traynor, B. J., Nalls, M. A., Lai, S.-L., Arepalli, S., Dillman, A., Rafferty, I. P., Troncoso, J., et al. (2010) · PLoS Genetics

Genetic Associations and EpidemiologyEpigenetics and DNA Methylation

Cited by 769

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

PSP Genetics Study Group, Höglinger, G. U., Melhem, N. M., Dickson, D. W., Sleiman, P. M. A., Wang, L.-S., Klei, L., Rademakers, R., de Silva, R., Litvan, I., et al. (2011) · Nature Genetics

Parkinson's Disease Mechanisms and TreatmentsAlzheimer's disease research and treatments

Cited by 603

A genome-wide association study identifies protein quantitative trait loci (pQTLs)

Melzer, D., Perry, J. R. B., Hernandez, D., Corsi, A.-M., Stevens, K., Rafferty, I., Lauretani, F., Murray, A., Gibbs, J. R., Paolisso, G., et al. (2008) · PLoS Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 480

A survey of genetic human cortical gene expression

Myers, A. J., Gibbs, J. R., Webster, J. A., Rohrer, K., Zhao, A., Marlowe, L., Kaleem, M., Leung, D., Bryden, L., Nath, P., et al. (2007) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 479

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease

Cruchaga, C., Karch, C. M., Jin, S. C., Benitez, B. A., Cai, Y., Guerreiro, R., Harari, O., Norton, J., Budde, J., Bertelsen, S., et al. (2014) · Nature

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 461

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

Chia, R., Sabir, M. S., Bandres-Ciga, S., Saez-Atienzar, S., Reynolds, R. H., Gustavsson, E., Walton, R. L., Ahmed, S., Viollet, C., Ding, J., et al. (2021) · Nature Genetics

Parkinson's Disease Mechanisms and TreatmentsDementia and Cognitive Impairment Research

Cited by 438

Genome-wide meta-analysis identifies new susceptibility loci for migraine

North American Brain Expression Consortium, Anttila, V., UK Brain Expression Consortium, the International Headache Genetics Consortium, Winsvold, B. S., Gormley, P., Kurth, T., Bettella, F., McMahon, G., Kallela, M., et al. (2013) · Nature Genetics

Migraine and Headache StudiesGenetic Associations and Epidemiology

Cited by 410

Using Exome Sequencing to Reveal Mutations in TREM2 Presenting as a Frontotemporal Dementia–like Syndrome Without Bone Involvement

Guerreiro, R. J., Lohmann, E., Brás, J. M., Gibbs, J. R., Rohrer, J. D., Gurunlian, N., Dursun, B., Bilgic, B., Hanagasi, H., Gurvit, H., et al. (2013) · JAMA Neurology

Dementia and Cognitive Impairment ResearchAlzheimer's disease research and treatments

Cited by 374

Genome-wide pleiotropy between Parkinson disease and autoimmune diseases

Witoelar, A., Jansen, I. E., Wang, Y., Desikan, R. S., Gibbs, J. R., Blauwendraat, C., Thompson, W. K., Hernandez, D. G., Djurovic, S., Schork, A. J., et al. (2017) · JAMA Neurology

Parkinson's Disease Mechanisms and TreatmentsGenetic Associations and Epidemiology

Cited by 352

Genetic Control of Human Brain Transcript Expression in Alzheimer Disease

Webster, J. A., Gibbs, J. R., Clarke, J., Ray, M., Zhang, W., Holmans, P., Rohrer, K., Zhao, A., Marlowe, L., Kaleem, M., et al. (2009) · The American Journal of Human Genetics

Alzheimer's disease research and treatmentsGenetic Associations and Epidemiology

Cited by 304

Novel genetic loci associated with hippocampal volume

Hibar, D. P., Adams, H. H. H., Jahanshad, N., Chauhan, G., Stein, J. L., Hofer, E., Renteria, M. E., Bis, J. C., Arias-Vasquez, A., Ikram, M. K., et al. (2017) · Nature Communications

Genetic Associations and EpidemiologyMemory and Neural Mechanisms

Cited by 299

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, J. R., Dillman, A., Hernandez, D. G., et al. (2012) · Human Molecular Genetics

Alzheimer's disease research and treatmentsRNA Research and Splicing

Cited by 252

Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study

Nalls, M. A., McLean, C. Y., Rick, J., Eberly, S., Hutten, S. J., Gwinn, K., Sutherland, M., Martinez, M., Heutink, P., Williams, N. M., et al. (2015) · The Lancet Neurology

Parkinson's Disease Mechanisms and TreatmentsDementia and Cognitive Impairment Research

Cited by 204

Using genome-wide complex trait analysis to quantify ‘missing heritability’ in Parkinson’s disease

Keller, M. F., Saad, M., Bras, J., Bettella, F., Nicolaou, N., Simon-Sanchez, J., Mittag, F., Buchel, F., Sharma, M., Gibbs, J. R., et al. (2012) · Human Molecular Genetics

Genetic Associations and EpidemiologyParkinson's Disease Mechanisms and Treatments

Cited by 190

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

Dillman, A. A., Hauser, D. N., Gibbs, J. R., Nalls, M. A., McCoy, M. K., Rudenko, I. N., Galter, D., & Cookson, M. R. (2013) · Nature Neuroscience

RNA Research and SplicingRNA regulation and disease

Cited by 148

Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study

Jabbari, E., Koga, S., Valentino, R. R., Reynolds, R. H., Ferrari, R., Tan, M. M. X., Rowe, J. B., Dalgard, C. L., Scholz, S. W., Dickson, D. W., et al. (2021) · The Lancet Neurology

Parkinson's Disease Mechanisms and TreatmentsAlzheimer's disease research and treatments

Cited by 111

Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease

Guerreiro, R. J., Lohmann, E., Kinsella, E., Brás, J. M., Luu, N., Gurunlian, N., Dursun, B., Bilgic, B., Santana, I., Hanagasi, H., et al. (2012) · Neurobiology of Aging

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 107

Association of a common genetic variant with Parkinson’s disease is mediated by microglia

Langston, R. G., Beilina, A., Reed, X., Kaganovich, A., Singleton, A. B., Blauwendraat, C., Gibbs, J. R., & Cookson, M. R. (2022) · Science Translational Medicine

Parkinson's Disease Mechanisms and TreatmentsNuclear Receptors and Signaling

Cited by 93

The Parkinson's Disease Genome‐Wide Association Study Locus Browser

Grenn, F. P., Kim, J. J., Makarious, M. B., Iwaki, H., Illarionova, A., Brolin, K., Kluss, J. H., Schumacher‐Schuh, A. F., Leonard, H., Faghri, F., et al. (2020) · Movement Disorders

Parkinson's Disease Mechanisms and TreatmentsGenetic Associations and Epidemiology

Cited by 92

The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease

Bandres‐Ciga, S., Saez‐Atienzar, S., Bonet‐Ponce, L., Billingsley, K., Vitale, D., Blauwendraat, C., Gibbs, J. R., Pihlstrøm, L., Gan‐Or, Z., The International Parkinson's Disease Genomics Consortium (IPDGC), et al. (2019) · Movement Disorders

Parkinson's Disease Mechanisms and TreatmentsGenetic Associations and Epidemiology

Cited by 90

Genetic evaluation of dementia with Lewy bodies implicates distinct disease subgroups

Kaivola, K., Shah, Z., Chia, R., International LBD Genomics Consortium, Black, S. E., Gan-Or, Z., Keith, J., Masellis, M., Rogaeva, E., Brice, A., et al. (2022) · Brain

Parkinson's Disease Mechanisms and TreatmentsDementia and Cognitive Impairment Research

Cited by 65

Additional rare variant analysis in Parkinson’s disease cases with and without known pathogenic mutations: Evidence for oligogenic inheritance

Lubbe, S. J., Escott-Price, V., Gibbs, J. R., Nalls, M. A., Bras, J., Price, T. R., Nicolas, A., Jansen, I. E., Mok, K. Y., Pittman, A. M., et al. (2016) · Human Molecular Genetics

Parkinson's Disease Mechanisms and TreatmentsLysosomal Storage Disorders Research

Cited by 61