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Bio
I trained in paediatrics and paediatric neurology in London and Newcastle upon Tyne, where I also began my research career studying the molecular consequences and clinical problems associated with mutations of mitochondrial DNA. Since then my research has included the identification of mitochondrial and nuclear gene defects causing disease in children, factors determining the pathogenicity of mitochondrial DNA mutations and multiple clinical research projects. The latter has specifically involved the development of clinical assessment tools (NMDAS and NPMDS), drug trials and more recently, bringing together a living cohort of ~1900 individuals with confirmed mitochondrial disease.
I am leading a study on the outcome of Mitochondrial Donation following the parliamentary changes to the law that have permitted this procedure in the UK. Together with Dr Jane Stewart I run the Mitochondrial Assisted Reproductive Technologies (Mito-ART) Clinic at the Newcastle Fertility Centre. I have published over 175 peer reviewed papers in high impact journals and I am currently Professor of Paediatric Mitochondrial Medicine and Action Medical Research Professor of Neuromuscular Disease at the Wellcome Centre for Mitochondrial Research, Newcastle University and Director of the national (NHS) Highly Specialised Service for Rare Mitochondrial Disorders.
Research Interests
Papers共 367 篇Author StatisticsCo-AuthorSimilar Experts
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Jonathan Meyrick,Renae J Stefanetti,Linda Errington,Robert McFarland,Gráinne S. Gorman,Nichola Z. Lax
Wellcome Open Research (2025)
Daniela Nieri, Svenja Aline Keller, Zhiyong Chen, Roberto Pili, Adia M. Ouelette, Marine Barquez, Patrick Krohn, Federica Carloni,Andrea Raimondi, Valeria Berno, Martina Zanella, Michelle Elisabeth Reid,Alaa Othman,Andrew M. Schaefer, Eric Gregory Olinger,John A. Sayer, Alina Ustiugova,Mikhail Korzinkin,Stephan C.F. Neuhauss,Christian Munz,Robert McFarland,Robert W. Taylor,Louis R. Lapierre, Elisa Araldi, Oliver Devuyst,Alessandro Luciani
medrxiv(2025)
Gabriel N Aughey,Elisa Cali,Reza Maroofian,Maha S Zaki,Alistair T Pagnamenta,Zafar Ali,Uzma Abdulllah,Fatima Rahman,Lara Menzies,Anum Shafique,Mohnish Suri,Emmanuel Roze,Mohammed Aguennouz,Zouiri Ghizlane,Saadia Maryam Saadi,Ambrin Fatima,Huma Arshad Cheema,Muhammad Nadeem Anjum,Godelieve Morel,Stephanie Robin,Robert McFarland,Umut Altunoglu,Verena Kraus,Moneef Shoukier,David Murphy, Kristina Flemming,Hilde Yttervik,Hajar Rhouda,Gaetan Lesca,Nicolas Chatron,Massimiliano Rossi,Bibi Nazia Murtaza,Mujaddad Ur Rehman,Jenny Lord,Edoardo Giacopuzzi,Azam Hayat, Muhammad Siraj, Reza Shervin Badv,Go Hun Seo,Christian Beetz,Hülya Kayserili, Yamna Krioulie, Wendy K Chung,Sadaf Naz,Shazia Maqbool,Kate E Chandler,Christopher J Kershaw,Thomas Wright,Siddharth Banka,Joseph G Gleeson, Jenny C Taylor,Stephanie Efthymiou,Shahid Mahmood Baig,Mariasavina Severino,James E C Jepson,Henry Houlden
Brain a journal of neurologyno. 4 (2025): 1194-1211
European journal of human genetics EJHGno. 4 (2025): 421-431
Laura A. Smith, Elizaveta A. Olkhova,Nichola Z. Lax,Yi Shiau Ng, Robert W. Taylor,Grainne S. Gorman,Daniel Erskine,Robert McFarland
Acta Neuropathologicano. 1 (2025): 1-19
Alina Ivaniuk, Irina A Anselm, Aaron Bowen,Bruce H Cohen,Fatma Tuba Eminoglu, Jane Estrella,Renata C Gallagher,Rebecca D Ganetzky, Jennifer Gannon,Grainne S Gorman,Carol Greene,Andrea L Gropman,Richard H Haas,Michio Hirano,Seema Kapoor,Amel Karaa,Mary Kay Koenig,Cornelia Kornblum, Engin Kose,Austin Larson,Uta Lichter-Konecki,Piervito Lopriore,Michelangelo Mancuso,Robert McFarland, Aye Myat Moe,Eva Morava,Yi Shiau Ng,Russell P Saneto,Fernando Scaglia, Carolyn M Sue,Mark Tarnopolsky,Melissa A Walker,Sumit Parikh, as the Hong Kong Mitochondrial Diseases Interest Group,Fung Cheuk-Wing, Tsz-Sum Wong,Kiran Belaramani, Chun-Kong Chan,Wing-Ki Chan, Wai-Lun Larry Chan, Hon-Wing Cheung,Ka-Yin Cheung,Shek-Kwan Chang,Sing-Ngai Cheung, Tsz-Fung Cheung,Yuk-Fai Cheung, Shuk-Ching Josephine Chong,Chi-Kwan Jasmine Chow, Hon-Yin B Chung,Sin-Ying Florence Fan, Wai-Ming Joshua Fok, Ka-Wing Fong,Tsui-Hang Sharon Fung,Kwok-Fai Hui,Ting-Hin Hui,Joannie Hui,Chun Hung Ko, Min-Chung Kwan, Mei-Kwan Anne Kwok,Sung-Shing Jeffrey Kwok, Moon-Sing Lai, Yau-On Lam,Ching-Wan Lam,Ming-Chung Lau,Chun-Yiu Eric Law, Hiu-Fung Law, Wing-Cheong Lee,Han-Chih Hencher Lee, Kin-Hang Leung, Kit-Yan Leung,Siu-Hung Li, Tsz-Ki Jacky Ling, Kam-Tim Timothy Liu,Fai-Man Lo, Colin Lui,Ching-On Luk,Ho-Ming Luk,Che-Kwan Ma,Karen Ma,Kam-Hung Ma,Yuen-Ni Mew,Alex Mo, Sui-Fun Hg,Wing-Kit Grace Poon,Bun Sheng,Cheuk-Ling Charing Szeto,Shuk-Mui Tai, Jing-Liang Tang, Choi-Ting Alan Tse, Li-Yan Lilian Tsung, Ho-Ming June Wong, Wing-Yin Winnie Wong, Kwok-Kui Wong,Suet-Na Sheila Wong,Chun-Nei Virginia Wong, Wai-Shan Sammy Wong,Chi-Kin Felix Wong,Shun-Ping Wu, Hiu-Fung Jerome Wu,Man-Mut Yau,Kin-Cheong Eric Yau,Wai-Lan Yeung, Hon-Ming Jonas Yeung, Kin-Keung Edwin Yip, Hui-Jun Wu, Pui-Hong Terence Young, Gao Yuan,Yuet-Ping Liz Yuen,Chi-Lap Yuen
Neurologyno. 4 (2025): e209779-e209779
Daniella H. Hock,Nikeisha J. Caruana,Liana N. Semcesen,Nicole J. Lake,Luke E. Formosa,Sumudu S. C. Amarasekera,Tegan Stait,Simone Tregoning, Leah E. Frajman, Adam M. Bournazos,David R. L. Robinson, Megan Ball,Boris Reljic,Bryony Ryder,Mathew J. Wallis,Anand Vasudevan, Cara Beck,Heidi Peters,Joy Lee, Natalie B. Tan, Mary-Louise Freckmann,Vasiliki Karlaftis,Chantal Attard,Paul Monagle, Amanda Samarasinghe, Rosie Brown,Weimin Bi,Monkol Lek,Robert McFarland,Robert W. Taylor, Michael T. Ryan, Sandra T. Cooper,Zornitza Stark,John Christodoulou,Alison G. Compton,David R. Thorburn,David A. Stroud
Genome Medicineno. 1 (2025): 1-24
Rauan Kaiyrzhanov,Kyle Thompson,Stephanie Efthymiou, Askhat Mukushev, Akbota Zharylkassyn,Chitra Prasad,Ehsan Ghayoor Karimiani,Javeria Raza Alvi,Dmitriy Niyazov,Ahmad Alahmad,Meisam Babaei,Homa Tajsharghi,Buthaina Albash, Ahmad Alaqeel,Majida Charif,Narges Hashemi, Morteza Heidari,Seyed Mehdi Kalantar,Guy Lenaers,Mohammad Yahya Vahidi Mehrjardi,Varunvenkat M. Srinivasan,Vykuntaraju K. Gowda,Seyed Hamidreza Mirabutalebi,Deanna Alexis Carere,Mojtaba Movahedinia,David Murphy,Robert Mcfarland,Mohamed S. Abdel-Hamid,Rasha M. Elhossini,Shahryar Alavi,Melanie Napier,Amaya Belanger-Quintana,Asuri N. Prasad, Jessica Jakobczyk,Agathe Roubertie,Tony Rupar,Tipu Sultan,Mehran Beiraghi Toosi,Leonid Sazanov,Mariasavina Severino,Henry Houlden, Robert W. Taylor,Reza Maroofian
BRAIN COMMUNICATIONSno. 1 (2025)
Cell metabolismno. 7 (2024): 1436-1438
Sandrina P. Correia,Marco F. Moedas, Lucie S. Taylor,Karin Naess,Albert Z. Lim,Robert McFarland, Zuzanna Kazior, Anastasia Rumyantseva,Rolf Wibom,Martin Engvall,Helene Bruhn,Nicole Lesko,Akos Vegvari,Lukas Kall,Matthias Trost,Charlotte L. Alston,Christoph Freyer,Robert W. Taylor,Anna Wedell,Anna Wredenberg
JCI Insight (2024)
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Author Statistics
#Papers: 370
#Citation: 15043
H-Index: 63
G-Index: 114
Sociability: 8
Diversity: 3
Activity: 52
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