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Genetics

D-Index
78
Citations
32058
World Ranking
1672
National Ranking
768

Overview

J. Raphael Gibbs is affiliated with the National Institutes of Health in the United States. Their research primarily spans the fields of Biochemistry, Genetics and Molecular Biology, and Medicine. Within these broad areas, they focus on subfields such as Neurology, Molecular Biology, Genetics, Physiology, and Cellular and Molecular Neuroscience.

The main topics in Gibbs's research portfolio include:

  • Parkinson's Disease Mechanisms and Treatments
  • RNA regulation and disease
  • Amyotrophic Lateral Sclerosis Research
  • Neurological diseases and metabolism
  • CRISPR and Genetic Engineering
  • Alzheimer's disease research and treatments
  • Genomic variations and chromosomal abnormalities

J. Raphael Gibbs has contributed to research published in several venues, with frequent publications in:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Movement Disorders
  • Brain
  • Zenodo (CERN European Organization for Nuclear Research)
  • Nature Communications

Some notable papers by Gibbs, listed with their year and venue, include:

  • Finding genetically-supported drug targets for Parkinson's disease using Mendelian randomization of the druggable genome, 2021, Nature Communications
  • Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets, 2021, JAMA Neurology
  • Accelerating Medicines Partnership: Parkinson's Disease. Genetic Resource, 2021, Movement Disorders
  • Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study, 2020, The Lancet Neurology
  • Large-scale pathway specific polygenic risk and transcriptomic community network analysis identifies novel functional pathways in Parkinson disease, 2020, Acta Neuropathologica

Frequent co-authors collaborating with Gibbs include:

  • Cornelis Blauwendraat
  • Sonja W. Scholz
  • Andrew Singleton
  • Clifton L. Dalgard
  • Jinhui Ding

Best Publications

  • A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

    Alan E. Renton;Elisa Majounie;Adrian James Waite;Javier Simón-Sánchez;Javier Simón-Sánchez

  • Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

    Mike A Nalls;Cornelis Blauwendraat;Costanza L Vallerga;Karl Heilbron

  • Genome-wide association study reveals genetic risk underlying Parkinson's disease

    Javier Simón-Sánchez;Claudia Schulte;Jose M Bras;Jose M Bras;Manu Sharma

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

    Janel O. Johnson;Jessica Mandrioli;Michael Benatar;Yevgeniya Abramzon

  • Genotype, haplotype and copy-number variation in worldwide human populations

    Mattias Jakobsson;Sonja W. Scholz;Sonja W. Scholz;Paul A Scheet;J. Raphael Gibbs;J. Raphael Gibbs

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

    J. Raphael Gibbs;J. Raphael Gibbs;Marcel P. van der Brug;Marcel P. van der Brug;Dena G. Hernandez;Dena G. Hernandez;Bryan J. Traynor

  • Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

    Aude Nicolas;Kevin P. Kenna;Alan E. Renton;Alan E. Renton;Nicola Ticozzi

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

    Günter U. Höglinger;Nadine M. Melhem;Dennis W. Dickson;Patrick M A Sleiman

  • A survey of genetic human cortical gene expression.

    Amanda J Myers;Amanda J Myers;J Raphael Gibbs;Jennifer A Webster;Kristen Rohrer

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

    David Melzer;John R. B. Perry;Dena Hernandez;Anna-Maria Corsi

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

    C Cruchaga;CM Karch;SC Jin;BA Benitez

  • Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

    Janel O Johnson;Erik P Pioro;Ashley Boehringer;Ruth Chia

  • Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data

    Hon-Chung Fung;Hon-Chung Fung;Hon-Chung Fung;Sonja Scholz;Mar Matarin;Javier Simón-Sánchez;Javier Simón-Sánchez

  • Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.

    Suzanne Lesage;Valérie Drouet;Elisa Majounie;Vincent Deramecourt

  • Genome-wide association study of obsessive-compulsive disorder.

    S. E. Stewart;D. Yu;J. M. Scharf;B. M. Neale

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

    Dena G. Hernandez;Michael A. Nalls;J. Raphael Gibbs;Sampath Arepalli

  • Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease

    A. Beilina;I. N. Rudenko;A. Kaganovich;L. Civiero

  • Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement.

    RJ Guerreiro;E Lohmann;JM Bras;Gibbs

  • A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease

    V. Plagnol;M.A. Nalls;J.M. Bras;D.G. Hernandez;D.G. Hernandez

  • Genome-Wide Analyses Identify KIF5A as a Novel ALS Gene

    Aude Nicolas;Kevin P. Kenna;Alan E. Renton;Nicola Ticozzi

Frequent Co-Authors

Andrew B. Singleton
Andrew B. Singleton National Institutes of Health
Dena G. Hernandez
Dena G. Hernandez National Institutes of Health
Sonja W. Scholz
Sonja W. Scholz National Institutes of Health
John Hardy
John Hardy University College London
Mike A. Nalls
Mike A. Nalls National Institutes of Health
Bryan J. Traynor
Bryan J. Traynor National Institutes of Health
Peter Heutink
Peter Heutink German Center for Neurodegenerative Diseases
Javier Simón-Sánchez
Javier Simón-Sánchez University of Tübingen
Alexis Brice
Alexis Brice Institut du Cerveau
Thomas Gasser
Thomas Gasser University of Tübingen

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