The paper investigates genetic interactions between SNCA and APOE in synucleinopathies using GWAS data and finds no significant epistatic interactions after multiple testing correction.

Brain Communications · Jan 1, 2025Peer-reviewedGenetic & Genomic Medicine

Evidence for non-Mendelian inheritance in spastic paraplegia 7

Mehrdad A. Estiar, Eric Yu, Ikhlass Haj Salem, Jay P. Ross, Kheireddin Mufti, Fulya Akçimen, Etienne Léveillé, Dan Spiegelman, Jennifer A. Ruskey, Farnaz Asayesh, Alain Dagher, Grace Yoon, Mark Andrew Tarnopolsky, Kym M. Boycott, Nicolas Dupré, , Ziv Gan‐Or

The paper investigates the inheritance pattern of SPG7 variants in hereditary spastic paraplegia, finding evidence of non-Mendelian inheritance including heterozygous variants and digenic/epistatic interactions.

Movement Disorders · Feb 17, 2021Peer-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