Author

Stanley Fahn

Columbia University Irving Medical Center

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 2 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 5 Approach:statistical model· 5 Assay:whole-exome sequencing· 3 Research Focus:GWAS / association mapping· 2 Research Focus:variant calling· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1

Frequent Co-Authors

Cheryl WatersiD· 5 shared Dan SpiegelmaniD· 5 shared Jennifer A. RuskeyiD· 5 shared Roy N. AlcalayiD· 5 shared Ziv Gan‐OriD· 5 shared Edward A. FoniD· 4 shared Farnaz AsayeshiD· 4 shared Lior GreenbaumiD· 4 shared

Activity by Year

2020-2025 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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5 shared papersGenetics

Cheryl WatersORCID

Mutual co-authors in cluster

Author profile →

5 papers

Recent·Most cited

Genome-wide association study of glucocerebrosidase activity modifiers.

Emma N. Somerville, Lynne Krohn, Konstantin A. Senkevich, Eric Yu, Jamil Ahmad, Farnaz Asayesh, Jennifer A. Ruskey, Dan Spiegelman, Stanley Fahn, Cheryl Waters, S. Pablo Sardi, Roy N. Alcalay, Ziv Gan‐Or

This study identifies genetic variants associated with glucocerebrosidase activity using GWAS in two cohorts, finding GBA1 variants and a novel association in the GAA locus.

Molecular Neurobiology · Apr 29, 2025Peer-reviewedGenetics

The Parkinson's disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons

Jace Jones-Tabah, Kathy He, Nathan C. Karpilovsky, Konstantin A. Senkevich, Ghislaine Deyab, Isabella Pietrantonio, Thomas Goiran, Yuting Cousineau, Daria Nikanorova, Taylor Goldsmith, Esther del Cid‐Pellitero, Carol X.‐Q. Chen, Wen Luo, Zhipeng You, Narges Abdian, , Edward A. Fon

This study investigates the role of cathepsin B in Parkinson's disease by analyzing genetic variants and manipulating catB function in cell models to assess its impact on lysosomal activity and alpha-synuclein clearance.

Molecular Neurodegeneration · Nov 24, 2024Peer-reviewedNeuroscience

Association of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's Disease

Prabhjyot Saini, Uladzislau Rudakou, Eric Yu, Jennifer A. Ruskey, Farnaz Asayesh, Sandra B. Laurent, Dan Spiegelman, Stanley Fahn, Cheryl Waters, Oury Monchi, Yves A Dauvilliers, Nicolas Dupré, Lior Greenbaum, Sharon Hassin‐Baer, Alberto Javier Espay, , Ziv Gan‐Or

This study sequenced five genes in PD patients and controls, finding no significant association with Parkinson's Disease after multiple comparisons.

Neurobiology of Aging · Oct 31, 2020Peer-reviewedGenetic & Genomic Medicine

Analysis of heterozygous PRKN variants and copy number variations in Parkinson's disease

Eric Yu, Uladzislau Rudakou, Lynne Krohn, Kheireddin Mufti, Jennifer A. Ruskey, Farnaz Asayesh, Mehrdad A. Estiar, Dan Spiegelman, Matthew Surface, Stanley Fahn, Cheryl Waters, Lior Greenbaum, Alberto Javier Espay, Yves A Dauvilliers, Nicolas Dupré, , Ziv Gan‐Or

This study examines the association between heterozygous PRKN variants and Parkinson's disease risk and onset, finding no significant associations.

Movement Disorders · Sep 24, 2020Peer-reviewedGenetic & Genomic Medicine

Analysis of common and rare VPS13C variants in late onset Parkinson disease

Uladzislau Rudakou, Jennifer A. Ruskey, Lynne Krohn, Sandra B. Laurent, Dan Spiegelman, Lior Greenbaum, Gilad Yahalom, Alex Désautels, Jacques Yves Montplaisir, Stanley Fahn, Cheryl Waters, Oren Levy, Caitlin M. Kehoe, Sushma Narayan, Yves A Dauvilliers, , Ziv Gan‐Or

The paper investigates the role of VPS13C variants in late-onset Parkinson disease, finding no significant association with rare variants but a nominal association with a haplotype.

Neurology Genetics · Jan 9, 2020Peer-reviewedGenetics