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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 365 篇Author StatisticsCo-AuthorSimilar Experts
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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 INSIGHTno. 20 (2024)
Theresa Brunet,Benedikt Zott,Victoria Lieftuchter,Dominic Lenz,Axel Schmidt,Philipp Peters,Robert Kopajtich,Malin Zaddach,Hanna Zimmermann,Irina Huning,Diana Ballhausen,Christian Staufner,Alyssa Bianzano,Joanne Hughes,Robert W. Taylor,Robert McFarland,Anita Devlin, Mihaela MihaljeviC,Nina Barisic,Meino Rohlfs,Sibylle Wilfling,Neal Sondheimer,Stacy Hewson,Nikolaos M. Marinakis,Konstantina Kosma,Joanne Traeger-Synodinos,Miriam Elbracht,Matthias Begemann,Sonja Trepels-Kottek,Dimah Hasan,Marcello Scala,Valeria Capra,Federico Zara,Amelie T. van der Ven,Joenna Driemeyer,Christian Apitz,Johannes Kramer,Alanna Strong,Hakon Hakonarson,Deborah Watson,Johannes A. Mayr,Holger Prokisch,Thomas Meitinger,Ingo Borggraefe,Juliane Spiegler,Ivo Baric,Marco Paolini,Lucia Gerstl,Matias Wagner
GENETICS IN MEDICINEno. 2 (2024)
Faye Cooles,Gemma Vidal-Pedrola,Najib Naamane,Arthur Pratt,Ben Barron-Millar, Amy Anderson,Catharien Hilkens,John Casement, Vincent Bondet, Darragh Duffy, Fan Zhang,Ruchi Shukla,John Isaacs,Martin Little, Miranda Payne,Nicholas Coupe,Benjamin Fairfax,Chelsea Alice Taylor, Sophie Mackay, Gusztav Milotay,Saskia Bos,Bethany Hunter,David Mcdonald,George Merces, Georgia Sheldon,Pauline Pradère, Joaquim Majo, Julian Pulle,Arno Vanstapel, Bart M Vanaudenaerde, Robin Vos,Andrew J Filby,Andrew J Fisher, Jack Collier, James Lambton,Fumi Suomi,Magali Prigent,Claire Guissart,Daniel Erskine,Agata Rozanska, Thomas Mccorvie,Aurélien Trimouille, Aliza Imam,Emma Hobson,Helen Mccullagh,Eirik Frengen, Doriana Misceo,Anna Bjerre, Marie Smeland,Claus Klingenberg,Fowzan Alkuraya,Robert Mcfarland,Charlotte Alston,Wyatt Yue,Renaud Legouis, Michel Koenig,Majlinda Lako,Thomas Mcwilliams,Monika Oláhová, Rob Taylor,William Newman, Rob Harkness,John McDermott,Kay Metcalfe,Naz Khan,William Macken,Robert Pitceathly,Christopher Record,Reza Maroofian,Ataf Sabir, Saikat Santra,Jill Urquhart,Leigh Demain,Helen Byers,Glenda Beaman,Robert Taylor, Enise Durmusalioglu,Tahir Atik,Esra Isik, Ozgur Cogulu,Janine Reunert,Thorsten Marquardt,Lukas Ryba,Rebecca Buchert-Lo,Tobias Haack,Petra Lassuthova,Kiran Polavarapu, Hans Lochmuller,Rita Horvath, Peter Jamieson, Mary Reilly, Ray O'Keefe, Róisín Boggan,Yi Shiau Ng, Imogen Franklin,Emma Blakely,Boriana Büchner,Enrico Bugiardini,Kevin Colclough,Catherine Feeney,Michael Hanna,Andrew Hattersley, Thomas Klopstock, Cornelia Kornblum, Michelangelo Mancuso,Kashyap Patel,Chiara Pizzamiglio, Holger Prokisch, Jochen Schäfer,Andrew Schaefer,Maggie Shepherd,Annemarie Thaele,Rhys Thomas,Doug Turnbull,Gráinne Gorman,Cathy Woodward,Robert McFarland,Heather Cordell,Sarah Pickett,Christo Tsilifis,Mark Pearce,Andrew Gennery,Ann Daly,Rebecca Darlay,Michalina Zatorska, Sarah Worthington,Quentin Anstee,Helen Reeves,Salem Nizami, Joao Mauricio-Muir,Misti McCain, Ranjeet Singh,James Wordsworth,Marcello Kadharusman,Robyn Watson, Steven Masson,Stuart McPherson,Alastair Burt,Dina Tiniakos,Peter Littler, Jeremie Nsengimana, Sylvia Zhang,Derek Mann,David Jamieson,Jack Leslie,Caroline Wilson,Jill Betts,Iain Croall,Nigel Hoggard, Joshua Bennett, Kieren G Hollingsworth,Arthur G Pratt,Maha Egail,Valeria Di Leo,Robert W Taylor,Richard Dodds, Amy E Anderson, Avan Aihie Sayer,John D Isaacs,Celeste McCracken,Dorina-Gabriela Condurache,Liliana Szabo,Hussein Elghazaly,Fiona Walter, Adam Meade, Ronjon Chakraverty,Nicholas Harvey,Charlotte Manisty, Steffen Petersen, Stefan Neubauer, Zahra Raisi-Estabragh,Lowri Allen,Peter Taylor,Annelie Carlsson,William Hagopian, Emma Hedlund, Anita Hill,Angus Jones,Johnny Ludvigsson,Suna Onengut-Gumuscu,Maria Redondo,Stephen Rich,Kathleen Gillespie,Colin Dayan,Richard Oram,Anastasia Resteu,Kristy Wonders,Jörn Schattenberg,Beate Straub,Mattias Ekstedt, Annalisa Berzigotti,Andreas Geier,Sven Francque,Ann Driessen, Jerome Boursier, Hannele Yki-Jarvinen, Johanna Arola,Guruprasad Aithal,Adriaan Holleboom, Joanne Verheij,Carla Yunis, Aldo Trylesinski, George Papatheodoridis, Salvatore Petta, Manuel Romero-Gomez, Elisabetta Bugianesi,Valerie Paradis,Vlad Ratziu,Jenni Burton,Giorgio Ciminata,Claudia Geue,Terry Quinn, Emily Glover,Mychel Morais,Gary Reynolds, Laura Denby,Simi Ali,Rachel Lennon,Neil Sheerin,Freda Yang,Nazanin Zounemat-Kermani,Piers Dixey, Ian M Adcock,Chloe I Bloom,Kian Fan Chung, Olivier Govaere,Megan Hasoon,Leigh Alexander,Simon Cockell,Jörn M Schattenberg,Ann K Daly,Quentin M Anstee
QJM monthly journal of the Association of Physicians (2024)
Daniella H Hock,Nikeisha J Caruana,Liana N Semcesen,Nicole J Lake,Luke E Formosa,Sumudu SC Amarasekera,Tegan Stait,Simone Tregoning, Leah E Frajman,David RL Robinson, Megan Ball,Boris Reljic,Bryony Ryder,Mathew J Wallis,Anand Vasudevan, Cara Beck,Heidi Peters,Joy Lee, MitoMDT Diagnostic Network for Genomics and Omics,Vasiliki Karlaftis,Chantal Attard,Paul Monagle, Amanda Samarasinghe, Rosie Brown,Weimin Bi,Monkol Lek,Robert McFarland,Robert W Taylor,Michael T Ryan,Zornitza Stark,John Christodoulou,Alison G Compton,David R Thorburn,David A Stroud
medrxiv(2024)
Beryll Blickhaeuser,Sarah L. Stenton,Christiane M. Neuhofer, Elisa Floride,Victoria Nesbitt,Carl Fratter,Johannes Koch, Birgit Kauffmann,Claudia Catarino,Lea Dewi Schlieben,Robert Kopajtich,Valerio Carelli,Alfredo A. Sadun,Robert McFarland, Fang,Chiara La Morgia,Stephanie Paquay,Marie Cecile Nassogne,Daniele Ghezzi,Costanza Lamperti,Saskia Wortmann,Jo Poulton, Thomas Klopstock,Holger Prokisch
BRAINno. 6 (2024): 1967-1974
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 663-663
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Gabriel Aughey,Elisa Cali,Reza Maroofian,Maha S Zaki,Alistair T Pagnamenta,Fatima Rahman,Lara Menzies,Anum Shafique,Mohnish Suri,Emmanuel Roze, Mohammed Aguennouz,Zouiri Ghizlane,Saadia Maryam Saadi,Zafar Ali,Uzma Abdulllah,Huma Arshad Cheema,Muhammad Nadeem Anjum,Godelieve Morel,Robert McFarland,Umut Altunoglu,Verena Kraus,Moneef Shoukier,David Murphy, Kristina Flemming,Hilde Yttervik,Hajar Rhouda,Gaetan Lesca,Bibi Nazia Murtaza,Mujaddad Ur Rehman,SYNAPS Study Group, Genomics England Consortium,Go Hun Seo,Christian Beetz,Hülya Kayserili, Yamna Krioulie,Wendy K Chung,Sadaf Naz,Shazia Maqbool,Joseph Gleeson,Shahid Mahmood Baig,Stephanie Efthymiou,Jenny C Taylor,Mariasavina Severino,James Ec Jepson,Henry Houlden
medRxiv the preprint server for health sciences (2024)
Neurogenetics for the Practitionerpp.373-387, (2024)
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Author Statistics
#Papers: 370
#Citation: 12470
H-Index: 58
G-Index: 102
Sociability: 8
Diversity: 3
Activity: 74
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