Author

Jason Hehir

National Hospital for Neurology and NeurosurgeryORCID 0000-0002-8185-9241Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Andrew SingletoniD· 2 shared Cornelis BlauwendraatiD· 2 shared Huw R. MorrisiD· 2 shared Manuela M. X. TaniD· 2 shared Aileen Nacorda· 1 shared Anette E. SchragiD· 1 shared Anjum Misbahuddin· 1 shared Annette HandiD· 1 shared

Activity by Year

2021-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Andrew SingletonORCID

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2 papers

Recent·Most cited

Parkinson's Families Project: a UK-wide study of early onset and familial Parkinson's disease

Clodagh Towns, Zih‐Hua Fang, Manuela M. X. Tan, Simona Jasaityte, Theresa M. Schmaderer, Eleanor J. Stafford, Miriam I. Pollard, Russel Tilney, Megan Hodgson, Lesley Wu, Robyn W. Labrum, Jason Hehir, James M. Polke, Lara Mariah Lange, Anthony H.V. Schapira, , Henry Houlden

The paper reports genetic findings from a UK-wide study of early-onset and familial Parkinson's disease, identifying pathogenic variants in known PD genes and highlighting the need for further monogenic causes.

npj Parkinson s Disease · Oct 17, 2024Peer-reviewedGenetic & Genomic Medicine

ASSESSING THE RELATIONSHIP BETWEEN MONOALLELIC PARK2 MUTATIONS AND PARKINSONS RISK

Steven J Lubbe, Bernabé I. Bustos, Jing S. Hu, Dimitri Krainc, Theresita Joseph, Jason Hehir, Manuela M. X. Tan, Weijia Zhang, Valentina Escott‐Price, Nigel M. Williams, Cornelis Blauwendraat, Andrew Singleton, Huw R. Morris

This study investigates the risk of Parkinson's disease associated with monoallelic PARK2 mutations, finding increased risk but highlighting confounding factors from biallelic mutations.

Human Molecular Genetics · Jan 1, 2021Peer-reviewedGenetic & Genomic Medicine