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Robert McFarland

Translational and Clinical Research Institute

68H-index
369Paper Count
1.6WCitation Count
Published Papers 167
Publication Date
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Faecal mtDNA heteroplasmy as a non-invasive biomarker in m.3243 A > G mitochondrial disease
errCommunications Medicine
IF6.3
err2026-08-12
err0
errOAAI
errCharlotte Warren; Renae J. Stefanetti; Isabel Barrow; David Houghton; Robert McFarland; Nell Richardson; Helen A. L. Tuppen; Yi Shiau Ng; Alasdair P. Blain; Gráinne S. Gorman
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Mavodelpar in patients with primary mitochondrial myopathy: a phase 1 trial
errScientific Reports
IF3.9
err2026-05-18
err0
errOAAI
errRenae J. Stefanetti; Chiara Pizzamiglio; Alasdair P. Blain; Oliver M. Russell; Lisa Alcock; Gavin Hudson; Jane Newman; Naomi Thomas; Charlotte Warren; Huizhong Su; Helen A. L. Tuppen; Philip Brown; David Houghton; Heather Hunter; Albert Z. Lim; Yi Shiau Ng; Catherine Feeney; Iwona Skorupinska; Louise Germain; Enrico Bugiardini; Michael G. Hanna; Robert McFarland; Robert D. S. Pitceathly; Gráinne S. Gorman
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Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based Statements
errEuropean Journal of Neurology
IF3.9
err2026-04-18
err0
errOAAI
errMichelangelo Mancuso; Marcello Bellusci; Valerio Carelli; Irenaeus de Coo; Daria Diodato; Felix Distelmaier; Omar Hikmat; Michio Hirano; Rita Horvath; Amel Karaa; Thomas Klopstock; Mary Kay Koenig; Cornelia Kornblum; Chiara La Morgia; Piervito Lopriore; Mika Henrik Martikainen; Robert McFarland; Olimpia Musumeci; Robert D. S. Pitceathly; Guido Primiano; Shamima Rahman; Fernando Scaglia; Andrew Schaefer; Manuel Schiff; Luisa Semmler; Costanza Lamperti; Serenella Servidei
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Ophthalmic manifestations of mitochondrial disorders
errProgress in Retinal and Eye Research
IF14.7
err2026-04-03
err0
PREAI
errMegan F. Baxter; Grace A. Borchert; Emma L. Blakely; Claire W. Ruan; Robert E. MacLaren; Robert McFarland; Robert W. Taylor
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Neurological manifestations and genotype–phenotype correlations in NDUFAF6-associated mitochondrial disease
errBrain Communications
IF4.5
err2026-03-18
err0
errOAAI
errAlessandra Torraco; Charlotte L Alston; Giulia Barcia; Daniela Verrigni; Teresa Rizza; Michela Di Nottia; Anastasia Altobelli; Diego Martinelli; Daria Diodato; Stephanie Efthymiou; Melis Kose; Yamna Kriouile; Albert Z Lim; Silvia Morlino; Barbara Siri; Nebal Waill Saadi; Antonio Novelli; Henry Houlden; Carlo Dionisi-Vici; Robert McFarland; Agnès Rötig; Enrico Bertini; Robert W Taylor; Rosalba Carrozzo
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TTC19-related mitochondrial complex III deficiency: Clinical and genetic characterization of 10 patients from 5 unrelated Arab families
errMolecular Genetics and Metabolism
IF3.5
err2026-03-09
err0
PREAI
errMalak Alghamdi; Ahmad Alahmad; Malak Alaboudi; Sulaiman Alsheikh; Mohammed H. Alanazy; Buthaina Albash; Ahmad Alaqeel; Naif A. Almontashiri; Dima Jamjoom; Fahad A. Bashiri; Muddathir H. Hamad; Hebatallah H. Ali; Mohammed Alwatidi; Essa Alharbi; Sherief Omar; Dana Marafi; Fatima Alabdulrazzaq; Stefan T. Arold; Robert McFarland; Robert W.Taylor
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errSave
Macular OCT inner retinal changes reflect CNS involvement in m.3243A>G disease
errBMJ NEUROLOGY OPEN
IF2.4
err2025-10-17
err0
errOAAI
errJouda, Hatem; Browning, Andrew C.; Aftab, Akhunzada M.; Mahmoud, Ikhlas; Bibi, Saima; Mcfarland, Robert; Pickett, Sarah J.; Devine, Helen
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Expanding the Genetic and Phenotypic Spectrum of POLRMT-Related Mitochondrial Disease
errClinical Genetics
IF2.3
err2025-06-29
err0
errOAAI
errMahmoud R. Fassad; Sebastian Valenzuela; Monika Oláhová; Jack J. Collier; Charlotte V. Y. Knowles; Eleni Mavraki; Miriam Elbracht; Nergis Güzel; Thomas Herberhold; Ingo Kurth; Andrea Maier; Larissa Mattern; Carol Saunders; Helen McCullagh; Katrin Õunap; Saskia B. Wortmann; Andre Reis; Lei Zhang; Claes M. Gustafsson; Robert McFarland; Robert W. Taylor
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Delineating the mechanisms of cerebellar degeneration in paediatric and adult primary mitochondrial disease
errActa Neuropathologica
IF9.3
err2025-05-30
err0
errOAAI
errLaura A. Smith; Elizaveta A. Olkhova; Nichola Z. Lax; Yi Shiau Ng; Robert W. Taylor; Grainne S. Gorman; Daniel Erskine; Robert McFarland
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Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2025-02-18
err1
errOAAI
errSchoonen, Maryke; Fassad, Mahmoud; Patel, Krutik; Bisschoff, Michelle; Vorster, Armand; Makwikwi, Tendai; Human, Ronel; Lubbe, Elsa; Nonyane, Malebo; Vorster, Barend C.; Vandrovcova, Jana; Hanna, Michael G.; Taylor, Robert W.; Mcfarland, Robert; Wilson, Lindsay A.; van der Westhuizen, Francois H.; Smuts, Izelle
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Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment
errBRAIN COMMUNICATIONS
IF4.5
err2024-12-17
err0
errOAAI
errKaiyrzhanov, Rauan; Thompson, Kyle; Efthymiou, Stephanie; Mukushev, Askhat; Zharylkassyn, Akbota; Prasad, Chitra; Karimiani, Ehsan Ghayoor; Alvi, Javeria Raza; Niyazov, Dmitriy; Alahmad, Ahmad; Babaei, Meisam; Tajsharghi, Homa; Albash, Buthaina; Alaqeel, Ahmad; Charif, Majida; Hashemi, Narges; Heidari, Morteza; Kalantar, Seyed Mehdi; Lenaers, Guy; Mehrjardi, Mohammad Yahya Vahidi; Srinivasan, Varunvenkat M.; Gowda, Vykuntaraju K.; Mirabutalebi, Seyed Hamidreza; Carere, Deanna Alexis; Movahedinia, Mojtaba; Murphy, David; Mcfarland, Robert; Abdel-Hamid, Mohamed S.; Elhossini, Rasha M.; Alavi, Shahryar; Napier, Melanie; Belanger-Quintana, Amaya; Prasad, Asuri N.; Jakobczyk, Jessica; Roubertie, Agathe; Rupar, Tony; Sultan, Tipu; Toosi, Mehran Beiraghi; Sazanov, Leonid; Severino, Mariasavina; Houlden, Henry; Taylor, Robert W.; Maroofian, Reza
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Optimizing rare disorder trials: a phase 1a/1b randomized study of KL1333 in adults with mitochondrial disease
errBRAIN
IF11.7
err2024-12-09
err0
PREAI
errPizzamiglio, Chiara; Stefanetti, Renae J.; Mcfarland, Robert; Thomas, Naomi; Ransley, George; Hugerth, Matilda; Gronberg, Alvar; Serrano, Sonia Simon; Elmer, Eskil; Hanna, Michael G.; Hansson, Magnus J.; Gorman, Grainne S.; Pitceathly, Robert D. S.
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Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country
errBRAIN COMMUNICATIONS
IF4.5
err2024-11-14
err0
errOAAI
errFrezatti, Rodrigo Siqueira Soares; Tomaselli, Pedro Jose; Record, Christopher J.; Wilson, Lindsay A.; Alves, Gustavo Maximiano; Dominik, Natalia; Efthymiou, Stephanie; Patel, Krutik; Vandrovcova, Jana; Mannikko, Roope; Pitceathly, Robert D. S.; Sobreira, Claudia Ferreira da Rosa; McFarland, Robert; Taylor, Robert W.; Houlden, Henry; Hanna, Michael G.; Reilly, Mary M.; Marques, Wilson
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Quantitative proteomics of patient fibroblasts reveal biomarkers and diagnostic signatures of mitochondrial disease
errJCI INSIGHT
IF6.1
err2024-10-22
err1
errOAAI
errCorreia, Sandrina P.; Moedas, Marco F.; Taylor, Lucie S.; Naess, Karin; Lim, Albert Z.; McFarland, Robert; Kazior, Zuzanna; Rumyantseva, Anastasia; Wibom, Rolf; Engvall, Martin; Bruhn, Helene; Lesko, Nicole; Vegvari, Akos; Kall, Lukas; Trost, Matthias; Alston, Charlotte L.; Freyer, Christoph; Taylor, Robert W.; Wedell, Anna; Wredenberg, Anna
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ASSOCIATION OF PHYSICIANS OF GREAT BRITAIN AND IRELAND 117th Annual Meeting 23-24 May 2024 Frederick Douglass Centre, Newcastle Abstracts
errQJM-AN INTERNATIONAL JOURNAL OF MEDICINE
IF6.4
err2024-09-19
err0
PREAI
errCooles, Faye; Vidal-Pedrola, Gemma; Naamane, Najib; Pratt, Arthur; Barron-Millar, Ben; Anderson, Amy; Hilkens, Catharien; Casement, John; Bondet, Vincent; Duffy, Darragh; Zhang, Fan; Shukla, Ruchi; Isaacs, John; Payne, Miranda; Coupe, Nicholas; Fairfax, Benjamin; Taylor, Chelsea Alice; Mackay, Sophie; Milotay, Gusztav; Bos, Saskia; Hunter, Bethany; Mcdonald, David; Merces, George; Sheldon, Georgia; Pradere, Pauline; Majo, Joaquim; Pulle, Julian; Vanstapel, Arno; Vanaudenaerde, Bart M.; Vos, Robin; Filby, Andrew J.; Fisher, Andrew J.; Collier, Jack; Lambton, James; Suomi, Fumi; Prigent, Magali; Guissart, Claire; Erskine, Daniel; Rozanska, Agata; Mccorvie, Thomas; Trimouille, Aurelien; Imam, Aliza; Hobson, Emma; Mccullagh, Helen; Frengen, Eirik; Misceo, Doriana; Bjerre, Anna; Smeland, Marie; Klingenberg, Claus; Alkuraya, Fowzan; Mcfarland, Robert; Alston, Charlotte; Yue, Wyatt; Legouis, Renaud; Koenig, Michel; Lako, Majlinda; Mcwilliams, Thomas; Olahova, Monika; Taylor, Rob; Newman, William; Harkness, Rob; McDermott, John; Metcalfe, Kay; Khan, Naz; Macken, William; Pitceathly, Robert; Record, Christopher; Maroofian, Reza; Sabir, Ataf; Santra, Saikat; Urquhart, Jill; Demain, Leigh; Byers, Helen; Beaman, Glenda; Yue, Wyatt; Taylor, Robert; Durmusalioglu, Enise; Atik, Tahir; Isik, Esra; Cogulu, Ozgur; Reunert, Janine; Marquardt, Thorsten; Ryba, Lukas; Buchert-Lo, Rebecca; Haack, Tobias; Lassuthova, Petra; Polavarapu, Kiran; Lochmuller, Hans; Horvath, Rita; Jamieson, Peter; Reilly, Mary; O'Keefe, Ray; Boggan, Roisin; Ng, Yi Shiau; Franklin, Imogen; Alston, Charlotte; Blakely, Emma; Buechner, Boriana; Bugiardini, Enrico; Colclough, Kevin; Feeney, Catherine; Hanna, Michael; Hattersley, Andrew; Klopstock, Thomas; Kornblum, Cornelia; Mancuso, Michelangelo; Patel, Kashyap; Pitceathly, Robert; Pizzamiglio, Chiara; Prokisch, Holger; Schaefer, Jochen; Schaefer, Andrew; Shepherd, Maggie; Thaele, Annemarie; Thomas, Rhys; Turnbull, Doug; Gorman, Grainne; Woodward, Cathy; McFarland, Robert; Taylor, Robert; Cordell, Heather; Pickett, Sarah; Tsilifis, Christo; Pearce, Mark; Gennery, Andrew; Daly, Ann; Darlay, Rebecca; Zatorska, Michalina; Worthington, Sarah; Anstee, Quentin; Cordell, Heather; Reeves, Helen; Nizami, Salem; Mauricio-Muir, Joao; McCain, Misti; Singh, Ranjeet; Wordsworth, James; Kadharusman, Marcello; Watson, Robyn; Masson, Steven; McPherson, Stuart; Burt, Alastair; Tiniakos, Dina; Littler, Peter; Nsengimana, Jeremie; Zhang, Sylvia; Mann, Derek; Jamieson, David; Leslie, Jack; Shukla, Ruchi; Wilson, Caroline; Betts, Jill; Croall, Iain; Hoggard, Nigel; Bennett, Joshua; Naamane, Najib; Hollingsworth, Kieren G.; Pratt, Arthur G.; Egail, Maha; Feeney, Catherine; Di Leo, Valeria; Taylor, Robert W.; Dodds, Richard; Anderson, Amy E.; Sayer, Avan Aihie; Isaacs, John D.; McCracken, Celeste; Condurache, Dorina-Gabriela; Szabo, Liliana; Elghazaly, Hussein; Walter, Fiona; Meade, Adam; Chakraverty, Ronjon; Harvey, Nicholas; Manisty, Charlotte; Petersen, Steffen; Neubauer, Stefan; Raisi-Estabragh, Zahra; Allen, Lowri; Taylor, Peter; Carlsson, Annelie; Hagopian, William; Hedlund, Emma; Hill, Anita; Jones, Angus; Ludvigsson, Johnny; Onengut-Gumuscu, Suna; Redondo, Maria; Rich, Stephen; Gillespie, Kathleen; Dayan, Colin; Oram, Richard; Wonders, Kristy; Schattenberg, Joern; Straub, Beate; Ekstedt, Mattias; Berzigotti, Annalisa; Geier, Andreas; Francque, Sven; Driessen, Ann; Boursier, Jerome; Yki-Jarvinen, Hannele; Arola, Johanna; Aithal, Guruprasad; Holleboom, Adriaan; Verheij, Joanne; Yunis, Carla; Trylesinski, Aldo; Papatheodoridis, George; Petta, Salvatore; Paradis, Valerie; Ratziu, Vlad; Tiniakos, Dina; Anstee, Quentin; Burton, Jenni; Ciminata, Giorgio; Geue, Claudia; Quinn, Terry; Glover, Emily; Morais, Mychel; Reynolds, Gary; Denby, Laura; Ali, Simi; Lennon, Rachel; Sheerin, Neil; Yang, Freda; Zounemat-Kermani, Nazanin; Dixey, Piers; Adcock, Ian M.; Bloom, Chloe I.; Chung, Kian Fan; Govaere, Olivier; Hasoon, Megan; Alexander, Leigh; Cockell, Simon; Tiniakos, Dina; Ekstedt, Mattias; Schattenberg, Joern M.; Boursier, Jerome; Ratziu, Vlad; Daly, Ann K.; Anstee, Quentin M.
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Fit for purpose: Selecting the best mitochondrial DNA for the job
errCELL METABOLISM
IF30.9
err2024-07-01
err0
PREAI
errPickett, Sarah J.; Taylor, Robert W.; McFarland, Robert
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Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant
errBRAIN
IF11.7
err2024-03-13
err4
errOAAI
errBlickhaeuser, Beryll; Stenton, Sarah L.; Neuhofer, Christiane M.; Floride, Elisa; Nesbitt, Victoria; Fratter, Carl; Koch, Johannes; Kauffmann, Birgit; Catarino, Claudia; Schlieben, Lea Dewi; Kopajtich, Robert; Carelli, Valerio; Sadun, Alfredo A.; McFarland, Robert; Fang, Fang; La Morgia, Chiara; Paquay, Stephanie; Nassogne, Marie Cecile; Ghezzi, Daniele; Lamperti, Costanza; Wortmann, Saskia; Poulton, Jo; Klopstock, Thomas; Prokisch, Holger
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De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke
errGENETICS IN MEDICINE
IF6.2
err2024-02-01
err5
PREAI
errBrunet, Theresa; Zott, Benedikt; Lieftuchter, Victoria; Lenz, Dominic; Schmidt, Axel; Peters, Philipp; Kopajtich, Robert; Zaddach, Malin; Zimmermann, Hanna; Huning, Irina; Ballhausen, Diana; Staufner, Christian; Bianzano, Alyssa; Hughes, Joanne; Taylor, Robert W.; McFarland, Robert; Devlin, Anita; MihaljeviC, Mihaela; Barisic, Nina; Rohlfs, Meino; Wilfling, Sibylle; Sondheimer, Neal; Hewson, Stacy; Marinakis, Nikolaos M.; Kosma, Konstantina; Traeger-Synodinos, Joanne; Elbracht, Miriam; Begemann, Matthias; Trepels-Kottek, Sonja; Hasan, Dimah; Scala, Marcello; Capra, Valeria; Zara, Federico; van der Ven, Amelie T.; Driemeyer, Joenna; Apitz, Christian; Kramer, Johannes; Strong, Alanna; Hakonarson, Hakon; Watson, Deborah; Mayr, Johannes A.; Prokisch, Holger; Meitinger, Thomas; Borggraefe, Ingo; Spiegler, Juliane; Baric, Ivo; Paolini, Marco; Gerstl, Lucia; Wagner, Matias
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Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2024-01-14
err2
errOAAI
errBisschoff, Michelle; Smuts, Izelle; Dercksen, Marli; Schoonen, Maryke; Vorster, Barend C.; van der Watt, George; Spencer, Careni; Naidu, Kireshnee; Henning, Franclo; Meldau, Surita; McFarland, Robert; Taylor, Robert W.; Patel, Krutik; Fassad, Mahmoud R.; Vandrovcova, Jana; Wanders, Ronald J. A.; van der Westhuizen, Francois H.
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Review of mortality data in mitochondrial disease over 12 years
errJOURNAL OF THE NEUROLOGICAL SCIENCES
IF3.2
err2023-12-01
err0
PREAI
errMoe, Aye; Gorman, Grainne; Mcfarland, Robert; Ng, Yi
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Research Directions

No research directions
Co-authors
Cooperation Journals
M
M Snyder
H-index: 210 · Papers: 3.3K
T
Thomas Meitinger
H-index: 168 · Papers: 957
H
Hölger Thiele
H-index: 134 · Papers: 1.8K
P
Patrick F. Chinnery
H-index: 128 · Papers: 937
W
Wendy K. Chung
H-index: 127 · Papers: 1.3K
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