Author

Robyn W. Labrum

National Hospital for Neurology and Neurosurgery

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· 1 Genomics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Anette E. SchragiD· 2 shared Henry HouldeniD· 2 shared Huw R. MorrisiD· 2 shared James M. PolkeiD· 2 shared Kailash P. BhatiaiD· 2 shared Nicholas William WoodiD· 2 shared Aditi Chawla· 1 shared Aileen Nacorda· 1 shared

Activity by Year

2020-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 42 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Anette E. SchragORCID

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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

Whole genome sequencing for diagnosis of neurological repeat expansion disorders

Kristina Ibáñez, James M. Polke, Tanner Hagelstrom, Egor Dolzhenko, Dorota Pasko, Ellen Thomas, Louise C. Daugherty, Dalia Kasperavičiūtė, Ellen M. McDonagh, Katherine R. Smith, Antonio Rueda Martin, Dimitris Polychronopoulos, Heather Angus‐Leppan, Kailash P. Bhatia, James E. Davison, , Arianna Tucci

This study demonstrates that whole genome sequencing can effectively detect repeat expansions in neurological disorders with high sensitivity and specificity, enabling diagnosis in previously undiagnosed patients.

bioRxiv · Nov 6, 2020 · PreprintGenomics