Author

Sinthuja Pachchek

University of LuxembourgORCID 0000-0002-9182-4966Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Assay:long-read sequencing· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Dheeraj Reddy BobbiliiD· 2 shared Patrick MayiD· 2 shared Zied LandoulsiiD· 2 shared Ann‐Kathrin HauseriD· 1 shared Carlo MajiD· 1 shared Caspar GroßiD· 1 shared Claudia SchulteiD· 1 shared Elena Buena‐AtienzaiD· 1 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Dheeraj Reddy BobbiliORCID

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2 papers

Recent·Most cited

Penetrance of Parkinson's disease in GBA1 carriers is depending on the variant severity and polygenic background

Emadeldin Hassanin, Zied Landoulsi, Sinthuja Pachchek, Peter Michael Krawitz, Carlo Maj, Rejko Krüger, Patrick May, Dheeraj Reddy Bobbili

This study shows that GBA1 variants increase Parkinson's disease risk, with severe variants having higher risk than risk variants, and polygenic scores further increase this risk.

medRxiv · Jan 23, 2025 · PreprintGenetic & Genomic Medicine

Accurate long-read sequencing identified GBA variants as a major genetic risk factor in the Luxembourg Parkinson's study

Sinthuja Pachchek, Zied Landoulsi, Lukas Pavelka, Claudia Schulte, Elena Buena‐Atienza, Caspar Groß, Ann‐Kathrin Hauser, Dheeraj Reddy Bobbili, Nicolas Casadei, Patrick May, Rejko Krüger

The paper uses long-read sequencing to accurately identify GBA variants as a major genetic risk factor for Parkinson's disease in a Luxembourg cohort.

medRxiv · Mar 29, 2023 · PreprintGenetic & Genomic Medicine