Author

Sinthuja Pachchek

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

Biology Disciplines

Click to filter author papers

Signature Assays, Organisms & Methods

Click to filter · or open tag

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

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetic & Genomic Medicine

Dheeraj Reddy BobbiliORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJan 23, 2025

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

Emadeldin Hassanin, Zied Landoulsi, Sinthuja Pachchek…·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.

DOI 10.1101/2025.01.23.25320896

humanwhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintMar 29, 2023

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…·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.

DOI 10.1101/2023.03.29.23287880

humanlong-read sequencing

𝕏 PostBluesky