Concepedia

Roisin Sullivan

RS

Statistics

Publications

14

Citations

1.5K

H-Index

14

Active since

2018

Affiliations

University College London(Current)

National Hospital for Neurology and Neurosurgery

University of Pavia

University of Auckland

The University of Western Australia

Roisin Sullivan is an author at University College London specializing in life sciences, genetics, and neurogenetic disorders.

Publications per year

2018–2024

14

Publications

14

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Andrea Cortese, Roberto Simone, Roisin Sullivan et al. · Nature Genetics · 2019 · 581 citations · Full text

Life Sciences, Neurology, Neurogenetics +9

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

Andrea Cortese, Stefano Tozza, Wai Yan Yau et al. · Brain · 2020 · 220 citations · Full text

Medicine, Molecular Genetics, Neurology +13

A Novel Cell-Type Deconvolution Algorithm Reveals Substantial Contamination by Immune Cells in Saliva, Buccal and Cervix

Shijie Zheng, Amy P. Webster, Danyue Dong et al. · Epigenomics · 2018 · 214 citations · Full text

Life Sciences, Bioinformatics, Cancer Biology +17

A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families

Carolin K. Scriba, Sarah J. Beecroft, Joshua S. Clayton et al. · Brain · 2020 · 95 citations · Full text

Life Sciences, Genetics, Neurology +16

A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele

Sarah J. Beecroft, Andrea Cortese, Roisin Sullivan et al. · Brain · 2020 · 80 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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