Publications by authors named "Raphael Gibbs"

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Mitochondrial DNA Variation in the Aging Human Cerebral Cortex and Cerebellum.
Audrey A Omidsalar, David R Tyrpak, J Andrew MacKay, Kelvin Yen, Pinchas Cohen, J Raphael Gibbs

Aging Cell· January 2026

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Association between Human Leukocyte Antigen Alleles and Neuropathological Outcomes in Lewy Body Disease.
Marios Gavrielatos, Michael G Heckman, Alexandra I Soto-Beasley, Sophia G Blumenfeld, Xu Hou, J Raphael Gibbs

Ann Neurol· November 2025

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A plasma proteomics-based candidate biomarker panel predictive of amyotrophic lateral sclerosis.
Ruth Chia, Ruin Moaddel, Justin Y Kwan, Memoona Rasheed, Paola Ruffo, J Raphael Gibbs

Nat Med· October 2025

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Decreased SNCA expression in whole-blood RNA analysis of Parkinson's disease adjusting for neutrophils.
Kayla Y Xu, Ivo Violich, Elizabeth Hutchins, Eric Alsop, Mike A Nalls, J Raphael Gibbs

NPJ Parkinsons Dis· October 2025

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Cerebellum mitochondrial DNA copy number is increased in Parkinson's disease.
Talia Beglarian, David R Tyrpak, J Raphael Gibbs, John Andrew MacKay, Sonja W Scholz

Brain Commun· September 2025

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Integrative analysis reveals generalizable human neurodegenerative disease-associated glial states.
Liam Horan-Portelance, Dominic J Acri, Alexandra Mann, Janet Brooks, Hannah M Bailey, J Raphael Gibbs

bioRxiv· September 2025

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Region-Specific Transcriptional Signatures of Brain Aging in the Absence of Neuropathology at the Single-cell Level.
Monica E Mesecar, Megan F Duffy, Dominic J Acri, Jinhui Ding, Rebekah G Langston, J Raphael Gibbs

bioRxiv· August 2025

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Intermediate CAG repeats worsen disease severity in amyotrophic lateral sclerosis.
Maurizio Grassano, Antonio Canosa, Sandra D'Alfonso, Lucia Corrado, Giorgia Brodini, Raphael J Gibbs

J Neurol Neurosurg Psychiatry· December 2024

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Imaging spatial transcriptomics reveals molecular patterns of vulnerability to pathology in a transgenic α-synucleinopathy model.
Liam Horan-Portelance, Michiyo Iba, Dominic J Acri, J Raphael Gibbs, Mark R Cookson

bioRxiv· December 2024

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Characterization of DNA methylation in PBMCs and donor-matched iPSCs shows methylation is reset during stem cell reprogramming.
Xylena Reed, Cory A Weller, Sara Saez-Atienzar, Alexandra Beilina, Sultana Solaiman, J Raphael Gibbs

bioRxiv· December 2024

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Long-read sequencing of hundreds of diverse brains provides insight into the impact of structural variation on gene expression and DNA methylation.
Kimberley J Billingsley, Melissa Meredith, Kensuke Daida, Pilar Alvarez Jerez, Shloka Negi, J Raphael Gibbs

bioRxiv· December 2024

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Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data.
Sara Saez-Atienzar, Cleide Dos Santos Souza, Ruth Chia, Selina N Beal, Ileana Lorenzini, J Raphael Gibbs

Cell Genom· November 2024

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Decreased SNCA Expression in Whole-Blood RNA Analysis of Parkinson's Disease Adjusting for Lymphocytes.
Kayla Xu, Ivo Violich, Elizabeth Hutchins, Eric Alsop, Mike A Nalls, J Raphael Gibbs

bioRxiv· November 2024

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Genome sequence analyses identify novel risk loci for multiple system atrophy.
Ruth Chia, Anindita Ray, Zalak Shah, Jinhui Ding, Paola Ruffo, J Raphael Gibbs

Neuron· July 2024

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Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing.
Pilar Alvarez Jerez, Kensuke Daida, Francis P Grenn, Laksh Malik, Abigail Miano-Burkhardt, J Raphael Gibbs

NPJ Parkinsons Dis· July 2024

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Profiling complex repeat expansions in RFC1 in Parkinson's disease.
Pilar Alvarez Jerez, Kensuke Daida, Abigail Miano-Burkhardt, Hirotaka Iwaki, Laksh Malik, J Raphael Gibbs

NPJ Parkinsons Dis· May 2024

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Genetic analysis of the X chromosome in people with Lewy body dementia nominates new risk loci.
Ece Bayram, Paolo Reho, Irene Litvan, , Jinhui Ding, J Raphael Gibbs

NPJ Parkinsons Dis· February 2024

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Long-Read Sequencing Resolves a Complex Structural Variant in PRKN Parkinson's Disease.
Kensuke Daida, Manabu Funayama, Kimberley J Billingsley, Laksh Malik, Abigail Miano-Burkhardt, J Raphael Gibbs

Mov Disord· December 2023

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Large-scale rare variant burden testing in Parkinson's disease.
Mary B Makarious, Julie Lake, Vanessa Pitz, Allen Ye Fu, Joseph L Guidubaldi, J Raphael Gibbs

Brain· November 2023

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Long-read sequencing resolves a complex structural variant in Parkinson's disease.
Kensuke Daida, Manabu Funayama, Kimberley J Billingsley, Laksh Malik, Abigail Miano-Burkhardt, J Raphael Gibbs

medRxiv· August 2023

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Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.
Matteo Zanovello, Kristina Ibáñez, Anna-Leigh Brown, Prasanth Sivakumar, Alessandro Bombaci, J Raphael Gibbs

Brain· July 2023

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Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementias.
Karri Kaivola, Ruth Chia, Jinhui Ding, Memoona Rasheed, Masashi Fujita, J Raphael Gibbs

Cell Genom· June 2023

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Genome-Wide Analysis of Structural Variants in Parkinson Disease.
Kimberley J Billingsley, Jinhui Ding, Pilar Alvarez Jerez, Anastasia Illarionova, Kristin Levine, J Raphael Gibbs

Ann Neurol· May 2023

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The Foundational Data Initiative for Parkinson Disease: Enabling efficient translation from genetic maps to mechanism.
Elisangela Bressan, Xylena Reed, Vikas Bansal, Elizabeth Hutchins, Melanie M Cobb, J Raphael Gibbs

Cell Genom· March 2023

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Genome-wide contribution of common short-tandem repeats to Parkinson's disease genetic risk.
Bernabe I Bustos, Kimberley Billingsley, Cornelis Blauwendraat, J Raphael Gibbs, Ziv Gan-Or

Brain· January 2023

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