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R

Roisin Sullivan

University of London
H指数:17
被引数:2,083

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Profiling complex repeat expansions in RFC1 in Parkinson's disease
NPJ PARKINSONS DISEASE
IF8.2
2024-05-240
OAAI
Jerez, Pilar Alvarez; Daida, Kensuke; Miano-Burkhardt, Abigail; Iwaki, Hirotaka; Malik, Laksh; Cogan, Guillaume; Makarious, Mary B.; Sullivan, Roisin; Vandrovcova, Jana; Ding, Jinhui; Gibbs, J. Raphael; Markham, Androo; Nalls, Mike A.; Kesharwani, Rupesh K.; Sedlazeck, Fritz J.; Casey, Bradford; Hardy, John; Houlden, Henry; Blauwendraat, Cornelis; Singleton, Andrew B.; Billingsley, Kimberley J.
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

重复扩增大小在预测RFC1疾病发病年龄和严重程度中的作用

BRAIN
IF11.7
2024-01-097
OAAI
Curro, Riccardo; Dominik, Natalia; Facchini, Stefano; Vegezzi, Elisa; Sullivan, Roisin; Deforie, Valentina Galassi; Fernandez-Eulate, Gorka; Traschuetz, Andreas; Rossi, Salvatore; Garibaldi, Matteo; Kwarciany, Mariusz; Taroni, Franco; Brusco, Alfredo; Good, Jean-Marc; Cavalcanti, Francesca; Hammans, Simon; Ravenscroft, Gianina; Roxburgh, Richard H.; Schnekenberg, Ricardo Parolin; Rugginini, Bianca; Abati, Elena; Manini, Arianna; Quartesan, Ilaria; Ghia, Arianna; de Munain, Adolfo Lopez; Manganelli, Fiore; Kennerson, Marina; Santorelli, Filippo Maria; Infante, Jon; Marques, Wilson; Jokela, Manu; Murphy, Sinead M.; Mandich, Paola; Fabrizi, Gian Maria; Briani, Chiara; Gosal, David; Pareyson, Davide; Ferrari, Alberto; Prados, Ferran; Yousry, Tarek; Khurana, Vikram; Kuo, Sheng-Han; Miller, James; Troakkes, Claire; Jaunmuktane, Zane; Giunti, Paola; Hartmann, Annette; Basak, Nazli; Synofzik, Matthis; Stojkovic, Tanya; Hadjivassiliou, Marios; Reilly, Mary M.; Houlden, Henry; Cortese, Andrea
Genome-Wide Association Study Identifies Risk Loci for Cluster Headache

全基因组关联研究确定丛集性头痛的风险位点

ANNALS OF NEUROLOGY
IF7.7
2021-07-1439
OAAI
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.; Sullivan, Roisin; Efthymiou, Stephanie; Adebimpe, Joycee; Quinn, Olivia; Campbell, Ciaran; Cavalleri, Gianpiero L.; Vikelis, Michail; Kelderman, Tim; Paemeleire, Koen; Kilbride, Emer; Grangeon, Lou; Lagrata, Susie; Danno, Daisuke; Trembath, Richard; Wood, Nicholas W.; Kockum, Ingrid; Winsvold, Bendik S.; Steinberg, Anna; Sjostrand, Christina; Waldenlind, Elisabet; Vandrovcova, Jana; Houlden, Henry; Matharu, Manjit; Belin, Andrea Carmine
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families

两个亚太帆布家族中的一个新颖的RFC1重复基序 (ACAGG)

BRAIN
IF11.7
2020-10-2565
OAAI
Scriba, Carolin K.; Beecroft, Sarah J.; Clayton, Joshua S.; Cortese, Andrea; Sullivan, Roisin; Yau, Wai Yan; Dominik, Natalia; Rodrigues, Miriam; Walker, Elizabeth; Dyer, Zoe; Wu, Teddy Y.; Davis, Mark R.; Chandler, David C.; Weisburd, Ben; Houlden, Henry; Reilly, Mary M.; Laing, Nigel G.; Lamont, Phillipa J.; Roxburgh, Richard H.; Ravenscroft, Gianina
A Maori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele

画布中毛利人特定的RFC1致病性重复构型，可能是由于创始人等位基因

BRAIN
IF11.7
2020-08-2747
OAAI
Beecroft, Sarah J.; Cortese, Andrea; Sullivan, Roisin; Yau, Wai Yan; Dyer, Zoe; Wu, Teddy Y.; Mulroy, Eoin; Pelosi, Luciana; Rodrigues, Miriam; Taylor, Rachael; Mossman, Stuart; Leadbetter, Ruth; Cleland, James; Anderson, Tim; Ravenscroft, Gianina; Laing, Nigel G.; Houlden, Henry; Reilly, Mary M.; Roxburgh, Richard H.
Neuronal intranuclear inclusion disease is genetically heterogeneous
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2020-08-1049
OAAI
Chen, Zhongbo; Yau, Wai Yan; Jaunmuktane, Zane; Tucci, Arianna; Sivakumar, Prasanth; Taliun, Sarah A. Gagliano; Turner, Chris; Efthymiou, Stephanie; Ibanez, Kristina; Sullivan, Roisin; Bibi, Farah; Athanasiou-Fragkouli, Alkyoni; Bourinaris, Thomas; Zhang, David; Revesz, Tamas; Lashley, Tammaryn; DeTure, Michael; Dickson, Dennis W.; Josephs, Keith A.; Gelpi, Ellen; Kovacs, Gabor G.; Halliday, Glenda; Rowe, Dominic B.; Blair, Ian; Tienari, Pentti J.; Suomalainen, Anu; Fox, Nick C.; Wood, Nicholas W.; Lees, Andrew J.; Haltia, Matti J.; Hardy, John; Ryten, Mina; Vandrovcova, Jana; Houlden, Henry
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2020-08-0144
OAAI
Manole, Andreea; Efthymiou, Stephanie; O'Connor, Emer; Mendes, Marisa, I; Jennings, Matthew; Maroofian, Reza; Davagnanam, Indran; Mankad, Kshitij; Lopez, Maria Rodriguez; Salpietro, Vincenzo; Harripaul, Ricardo; Badalato, Lauren; Walia, Jagdeep; Francklyn, Christopher S.; Athanasiou-Fragkouli, Alkyoni; Sullivan, Roisin; Desai, Sonal; Baranano, Kristin; Zafar, Faisal; Rana, Nuzhat; Ilyas, Muhammed; Horga, Alejandro; Kara, Majdi; Mattioli, Francesca; Goldenberg, Alice; Griffin, Helen; Piton, Amelie; Henderson, Lindsay B.; Kara, Benyekhlef; Aslanger, Ayca Dilruba; Raaphorst, Joost; Pfundt, Rolph; Portier, Ruben; Shinawi, Marwan; Kirby, Amelia; Christensen, Katherine M.; Wang, Lu; Rosti, Rasim O.; Paracha, Sohail A.; Sarwar, Muhammad T.; Jenkins, Dagan; Ahmed, Jawad; Santoni, Federico A.; Ranza, Emmanuelle; Iwaszkiewicz, Justyna; Cytrynbaum, Cheryl; Weksberg, Rosanna; Wentzensen, Ingrid M.; Sacoto, Maria J. Guillen; Si, Yue; Telegrafi, Aida; Andrews, Marisa, V; Baldridge, Dustin; Gabriel, Heinz; Mohr, Julia; Oehl-Jaschkowitz, Barbara; Debard, Sylvain; Senger, Bruno; Fischer, Frederic; van Ravenwaaij, Conny; Fock, Annemarie J. M.; Stevens, Servi J. C.; Bahler, Jurg; Nasar, Amina; Mantovani, John F.; Manzur, Adnan; Sarkozy, Anna; Smith, Desiree E. C.; Salomons, Gajja S.; Ahmed, Zubair M.; Riazuddin, Shaikh; Riazuddin, Saima; Usmani, Muhammad A.; Seibt, Annette; Ansar, Muhammad; Antonarakis, Stylianos E.; Vincent, John B.; Ayub, Muhammad; Grimmel, Mona; Jelsig, Anne Marie; Hjortshoj, Tina Duelund; Karstensen, Helena Gasdal; Hummel, Marybeth; Haack, Tobias B.; Jamshidi, Yalda; Distelmaier, Felix; Horvath, Rita; Gleeson, Joseph G.; Becker, Hubert; Mandel, Jean-Louis; Koolen, David A.; Houlden, Henry
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFCI repeat expansion

由于RFCI重复扩张引起的小脑共济失调，神经病，前庭反射综合征

BRAIN
IF11.7
2020-02-10153
OAAI
Cortese, Andrea; Tozza, Stefano; Yau, Wai Yan; Rossi, Salvatore; Beecroft, Sarah J.; Jaunmuktane, Zane; Dyer, Zoe; Ravenscroft, Gianina; Lamont, Phillipa J.; Mossman, Stuart; Chancellor, Andrew; Maisonobe, Thierry; Pereon, Yann; Cauquil, Cecile; Colnaghi, Silvia; Mallucci, Giulia; Curro, Riccardo; Tomaselli, Pedro J.; Thomas-Black, Gilbert; Sullivan, Roisin; Efthymiou, Stephanie; Rossor, Alexander M.; Laura, Matilde; Pipis, Menelaos; Horga, Alejandro; Polke, James; Kaski, Diego; Horvath, Rita; Chinnery, Patrick F.; Marques, Wilson; Tassorelli, Cristina; Devigili, Grazia; Leonardis, Lea; Wood, Nick W.; Bronstein, Adolfo; Giunti, Paola; Zuchner, Stephan; Stojkovic, Tanya; Laing, Nigel; Roxburgh, Richard H.; Houlden, Henry; Reilly, Mary M.
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia (vol 51, pg 649, 2019)
NATURE GENETICS
IF31.8
2019-04-266
OAAI
Cortese, Andrea; Simone, Roberto; Sullivan, Roisin; Vandrovcova, Jana; Tariq, Huma; Yau, Wai Yan; Humphrey, Jack; Jaunmuktane, Zane; Sivakumar, Prasanth; Polke, James; Ilyas, Muhammad; Tribollet, Eloise; Tomaselli, Pedro J.; Devigili, Grazia; Callegari, Ilaria; Versino, Maurizio; Salpietro, Vincenzo; Efthymiou, Stephanie; Kaski, Diego; Wood, Nick W.; Andrade, Nadja S.; Buglo, Elena; Rebelo, Adriana; Rossor, Alexander M.; Bronstein, Adolfo; Fratta, Pietro; Marques, Wilson J.; Zuchner, Stephan; Reilly, Mary M.; Houlden, Henry
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

RFC1中内含子重复序列的双等位基因扩增是迟发性共济失调的常见原因

NATURE GENETICS
IF31.8
2019-03-29363
OAAI
Cortese, Andrea; Simone, Roberto; Sullivan, Roisin; Vandrovcova, Jana; Tariq, Huma; Yan, Yau Way; Humphrey, Jack; Jaunmuktane, Zane; Sivakumar, Prasanth; Polke, James; Ilyas, Muhammad; Tribollet, Eloise; Tomaselli, Pedro J.; Devigili, Grazia; Callegari, Ilaria; Versino, Maurizio; Salpietrol, Vincenzo; Efthymiou, Stephanie; Kaski, Diego; Wood, Nick W.; Andrade, Nadja S.; Buglo, Elena; Rebelo, Adriana; Rossor, Alexander M.; Bronstein, Adolfo; Fratta, Pietro; Marques, Wilson J.; Zuchner, Stephan; Reilly, Mary M.; Houlden, Henry

研究方向

暂未获取到该数据
H
Henry Houlden
H 指数:120论文数:1,507被引数:6.5万
W
Wai Yan Yau
H 指数:14论文数:41被引数:1,688
N
Nicholas Wood
H 指数:139论文数:1.1万被引数:8.8万
J
Jana Vandrovcová
H 指数:45论文数:167被引数:9,498
A
Andrea Cortese
H 指数:42论文数:220被引数:6,464
S
Stéphanie Efthymiou
H 指数:34论文数:238被引数:4,640
E
Emer O’Connor
H 指数:16论文数:74被引数:1,333
M
Mary M. Reilly
H 指数:81论文数:849被引数:2.3万
Z
Zane Jaunmuktane
H 指数:50论文数:272被引数:1.3万
S
Salvatore Rossi
H 指数:15论文数:62被引数:1,211