The paper evaluates the NeuroBooster array's performance in genotyping pathogenic variants in Parkinson's disease across ancestries and validates their frequencies in diverse populations.

medRxiv · Dec 16, 2024 · PreprintGenetic & Genomic Medicine

Polygenic Parkinson's disease genetic risk score as risk modifier of parkinsonism in Gaucher disease

Cornelis Blauwendraat, Nahid Tayebi, Elizabeth Geena Woo, Grisel J. Lopez, Luca Fierro, Marco Toffoli, Naomi Limbachiya, Derralynn A. Hughes, Vanessa Pitz, Dhairya Patel, Dan Vitale, Mathew J. Koretsky, Dena G. Hernandez, Raquel Real, Roy N. Alcalay, , Ellen Sidransky

The paper examines how a polygenic Parkinson's disease genetic risk score modifies the risk of parkinsonism in Gaucher disease patients.

Movement Disorders · Mar 3, 2023Peer-reviewedGenetic & Genomic Medicine

The Foundational data initiative for Parkinsons disease (FOUNDIN-PD): enabling efficient translation from genetic maps to mechanism

Elisângela Bressan, Xylena Reed, Vikas Bansal, Elizabeth D. Hutchins, Melanie M. Cobb, Michelle G. Webb, Eric B. Alsop, Francis P. Grenn, Anastasia Illarionova, Natalia Savytska, Ivo Violich, Stefanie Bröer, Noémia Fernandes, Ramiyapriya Sivakumar, Alexandra G. Beilina, , Cornelis Blauwendraat

The paper presents a multi-layered molecular dataset from iPSC-derived dopaminergic neurons to model Parkinson's disease genetic risk and provides a data browser for accessing these resources.

Cell Genomics · Feb 6, 2023Peer-reviewedGenomics

Large-scale Rare Variant Burden Testing in Parkinson's Disease Identifies Novel Associations with Genes Involved in Neuro-inflammation

Mary B. Makarious, Julie Lake, Vanessa Pitz, Allen Ye Fu, Joseph L. Guidubaldi, Caroline Warly Solsberg, Sara Bandrés‐Ciga, Hampton L. Leonard, Jonggeol Jeffrey Kim, Kimberley J. Billingsley, Francis P. Grenn, Pilar Álvarez Jerez, Chelsea X. Alvarado, Hirotaka Iwaki, Michael Ta, , Cornelis Blauwendraat

medRxiv · Nov 8, 2022 · PreprintGenetic & Genomic Medicine