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Research
  1. Queen Mary University of London
  2. Research
  3. Publications

Publications: Miss Roisin Sullivan

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O'Connor E, Fourier C, Ran C, Sivakumar P, Liesecke F, Southgate L, Harder AVE, Vijfhuizen LS et al. ( 2021 ) . Genome-Wide Association Study Identifies Risk Loci for Cluster Headache . Annals of Neurology vol. 90 , ( 2 ) 193 - 202 .
Yau WY, Chen Z, Sullivan R, Vandrovcova J, Houlden H ( 2021 ) . Reply: Genetic heterogeneity of neuronal intranuclear inclusion disease. What about the infantile variant? . Annals of Clinical and Translational Neurology vol. 8 , ( 4 ) 1002 - 1004 .
Yau WY, Sullivan R, Rocca C, Cali E, Vandrovcova J, Wood NW, Houlden H ( 2021 ) . NOTCH2NLC Intermediate-Length Repeat Expansion and Parkinson's Disease in Patients of European Descent . Annals of Neurology vol. 89 , ( 3 ) 633 - 635 .
Sullivan R, Yau WY, Chelban V, Rossi S, Dominik N, O'Connor E, Hardy J, Wood N et al. ( 2021 ) . RFC1-related ataxia is a mimic of early multiple system atrophy . J Neurol Neurosurg Psychiatry
Yau WY, Vandrovcova J, Sullivan R, Chen Z, Zecchinelli A, Cilia R, Duga S, Murray M et al. ( 2021 ) . Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders . Mov Disord vol. 36 , ( 1 ) 251 - 255 .
Scriba CK, Beecroft SJ, Clayton JS, Cortese A, Sullivan R, Yau WY, Dominik N, Rodrigues M et al. ( 2020 ) . A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families . Brain vol. 143 , ( 10 ) 2904 - 2910 .
Sullivan R, Yau WY, Chelban V, Rossi S, O'Connor E, Wood NW, Cortese A, Houlden H ( 2020 ) . Dopa-Responsive Parkinsonism in a Patient With Homozygous RFC1 Expansions . Movement Disorders vol. 35 , ( 10 ) 1890 - 1891 .
Beecroft SJ, Cortese A, Sullivan R, Yau WY, Dyer Z, Wu TY, Mulroy E, Pelosi L et al. ( 2020 ) . A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele . Brain vol. 143 , ( 9 ) 2673 - 2680 .
Yau WY, Sullivan R, Chen Z, Lynch DS, Vandrovcova J, Wood NW, Houlden H ( 2020 ) . GGC Repeat Expansion in NOTCH2NLC Is Rare in European Leukoencephalopathy . Annals of Neurology vol. 88 , ( 3 ) 641 - 642 .
Chen Z, Yan Yau W, Jaunmuktane Z, Tucci A, Sivakumar P, Gagliano Taliun SA, Turner C, Efthymiou S et al. ( 2020 ) . Neuronal intranuclear inclusion disease is genetically heterogeneous . Annals of Clinical and Translational Neurology Article acn3.51151 ,
Manole A, Efthymiou S, O'Connor E, Mendes MI, Jennings M, Maroofian R, Davagnanam I, Mankad K et al. ( 2020 ) . De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects . Am J Hum Genet vol. 107 , ( 2 ) 311 - 324 .
Sullivan R, Yau WY, Chelban V, Rossi S, O'Connor E, Wood NW, Cortese A, Houlden H ( 2020 ) . RFC1 Intronic Repeat Expansions Absent in Pathologically Confirmed Multiple Systems Atrophy . Movement Disorders vol. 35 , ( 7 ) 1277 - 1279 .
Cortese A, Tozza S, Yau WY, Rossi S, Beecroft SJ, Jaunmuktane Z, Dyer Z, Ravenscroft G et al. ( 2020 ) . Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion . Brain vol. 143 , ( 2 ) 480 - 490 .
Sullivan R, Heavey S, Graham DG, Wellman R, Khan S, Thrumurthy S, Simpson BS, Baker T et al. ( 2020 ) . An optimised saliva collection method to produce high-yield, high-quality RNA for translational research . PLoS One vol. 15 , ( 3 )
Chelban V, Wilson MP, Warman Chardon J, Vandrovcova J, Zanetti MN, Zamba-Papanicolaou E, Efthymiou S, Pope S et al. ( 2019 ) . PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation . Ann Neurol vol. 86 , ( 2 ) 225 - 240 .
Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z et al. ( 2019 ) . Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia . Nat Genet vol. 51 , ( 4 ) 649 - 658 .
Sullivan R, Yau WY, O'Connor E, Houlden H ( 2019 ) . Spinocerebellar ataxia: an update . J Neurol vol. 266 , ( 2 ) 533 - 544 .
Yau WY, O'Connor E, Sullivan R, Akijian L, Wood NW ( 2018 ) . DNA repair in trinucleotide repeat ataxias . FEBS J vol. 285 , ( 19 ) 3669 - 3682 .
Zheng SC, Webster AP, Dong D, Feber A, Graham DG, Sullivan R, Jevons S, Lovat LB et al. ( 2018 ) . A novel cell-type deconvolution algorithm reveals substantial contamination by immune cells in saliva, buccal and cervix . Epigenomics vol. 10 , ( 7 ) 925 - 940 .
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