1. A novel cell-type deconvolution algorithm reveals substantial contamination by immune cells in saliva, buccal and cervix. (25th April 2018) Authors: Zheng, Shijie C; Webster, Amy P; Dong, Danyue; Feber, Andy; Graham, David G; Sullivan, Roisin; Jevons, Sarah; Lovat, Laurence B; Beck, Stephan; Widschwendter, Martin; Teschendorff, Andrew E Journal: Epigenomics Issue: Volume 10:Number 7(2018) Page Start: 925 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome: genetic and clinical insights. Issue 4 (August 2021) Authors: Sullivan, Roisin; Kaiyrzhanov, Rauan; Houlden, Henry Journal: Current opinion in neurology Issue: Volume 34:Issue 4(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. DNA repair in trinucleotide repeat ataxias. (10th September 2018) Authors: Yau, Wai Yan; O'Connor, Emer; Sullivan, Roisin; Akijian, Layan; Wood, Nicholas W. Journal: FEBS journal Issue: Volume 285:Number 19(2018) Page Start: 3669 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Dopa‐Responsive Parkinsonism in a Patient With Homozygous RFC1 Expansions. Issue 10 (17th October 2020) Authors: Sullivan, Roisin; Yau, Wai Yan; Chelban, Viorica; Rossi, Salvatore; O'Connor, Emer; Wood, Nicholas W.; Cortese, Andrea; Houlden, Henry Journal: Movement disorders Issue: Volume 35:Issue 10(2020) Page Start: 1890 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Genome‐Wide Association Study Identifies Risk Loci for Cluster Headache. Issue 2 (14th July 2021) Authors: O'Connor, Emer; Fourier, Carmen; Ran, Caroline; Sivakumar, Prasanth; Liesecke, Franziska; Southgate, Laura; Harder, Aster V. E.; Vijfhuizen, Lisanne S.; Yip, Janice; Giffin, Nicola; Silver, Nicholas; Ahmed, Fayyaz; Hostettler, Isabel C.; Davies, Brendan; Cader, M. Zameel; Simpson, Benjamin S.; Su... Journal: Annals of neurology Issue: Volume 90:Issue 2(2021) Page Start: 193 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. GGC Repeat Expansion in NOTCH2NLC Is Rare in European Leukoencephalopathy. Issue 3 (8th July 2020) Authors: Yau, Wai Yan; Sullivan, Roisin; Chen, Zhongbo; Lynch, David S.; Vandrovcova, Jana; Wood, Nicholas W.; Houlden, Henry Journal: Annals of neurology Issue: Volume 88:Issue 3(2020) Page Start: 641 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders. Issue 1 (7th October 2020) Authors: Yau, Wai Yan; Vandrovcova, Jana; Sullivan, Roisin; Chen, Zhongbo; Zecchinelli, Anna; Cilia, Roberto; Duga, Stefano; Murray, Malgorzata; Carmona, Susana; Chelban, Viorica; Ishiura, Hiroyuki; Tsuji, Shoji; Jaunmuktane, Zane; Turner, Chris; Wood, Nicholas W.; Houlden, Henry Journal: Movement disorders Issue: Volume 36:Issue 1(2021) Page Start: 251 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders. Issue 1 (7th October 2020) Authors: Yau, Wai Yan; Vandrovcova, Jana; Sullivan, Roisin; Chen, Zhongbo; Zecchinelli, Anna; Cilia, Roberto; Stefano, Duga; Murray, Malgorzata; Carmona, Susana; Chelban, Viorica; Ishiura, Hiroyuki; Tsuji, Shoji; Jaunmuktane, Zane; Turner, Chris; Wood, Nicholas W.; Houlden, Henry Journal: Movement disorders Issue: Volume 36:Issue 1(2021) Page Start: 251 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Neuronal intranuclear inclusion disease is genetically heterogeneous. Issue 9 (10th August 2020) Authors: Chen, Zhongbo; Yan Yau, Wai; Jaunmuktane, Zane; Tucci, Arianna; Sivakumar, Prasanth; Gagliano Taliun, Sarah A.; Turner, Chris; Efthymiou, Stephanie; Ibáñez, Kristina; Sullivan, Roisin; Bibi, Farah; Athanasiou‐Fragkouli, Alkyoni; Bourinaris, Thomas; Zhang, David; Revesz, Tamas; Lashley, Tammaryn; ... Journal: Annals of clinical and translational neurology Issue: Volume 7:Issue 9(2020) Page Start: 1716 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. NOTCH2NLC Intermediate‐Length Repeat Expansion and Parkinson's Disease in Patients of European Descent. Issue 3 (11th January 2021) Authors: Yau, Wai Yan; Sullivan, Roisin; Rocca, Clarissa; Cali, Elisa; Vandrovcova, Jana; Wood, Nicholas W.; Houlden, Henry Journal: Annals of neurology Issue: Volume 89:Issue 3(2021) Page Start: 633 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗