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R

Robert W. Taylor

newcastle university

97H-index
762Paper Count
3.9WCitation Count
Published Papers 343
Publication Date
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A Novel SLC25A4 Variant Causing Mitochondrial Dysfunction, Myopathy and Cardiomyopathy: A Functional and Molecular Characterization
errInternational Journal of Molecular Sciences
IF4.9
err2026-08-04
err0
errOAAI
errMazhor Aldosary; Hanan AlQudairy; Nourah Alshalan; Mohammad A. Al-Muhaizea; Eman Alobeid; Albandary AlBakheet; Ebtissal Khouj; Aljoharah M. Alharbi; Walaa Alenazi; Hanin R. Omar; Monther Alhamdoosh; Abdullah Alsuwaidan; Hindi Alhindi; Ahmed Alfares; Anas M. Alazami; Stefan T. Arold; Dilek Colak; Robert W. Taylor; Namik Kaya
errShare
errSave
COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy
errNature Communications
IF15.7
err2026-05-30
err0
errOAAI
errMicol Falabella; Sandra Lopez Calcerrada; Jana Aref; Jiaze Gao; William L. Macken; Chiara Pizzamiglio; Renata Kabiljo; Anna Lucia Francavilla; Pauline Gaignard; Antoine Pouzet; Jonathan Levy; Giulia Barcia; Jamie K. Leighton; Efstathia Chronopoulou; Germaine Pierre; Riza Köksal Özgül; Ali Dursun; Rebecca Halligan; Helen Mundy; Javeria Raza Alvi; Tipu Sultan; William James Craigen; Lisa Emrick; Jill A. Rosenfeld; Gehad Elmakkawy; JiHye Kim; Joseph J. Gleeson; Aboulfazl Rad; Gabriela Oprea; Maqbool Hussain; Khalil Ur Rehman; Sadia Riaz; Robert W. Taylor; Vincent Procaccio; Maha S. Zaki; Erika Fernandez-Vizarra; Ciro Leonardo Pierri; Michael G. Hanna; Henry Houlden; Reza Maroofian; Cristina Ugalde; Jan-Willem Taanman; Robert D. S. Pitceathly
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Selective muscle MRI changes in a patient with a rare mitochondrial DNA variant causing myoclonic epilepsy with ragged red fibres
errNeuromuscular Disorders
IF2.8
err2025-08-13
err0
PREAI
errTaylor Watson-Fargie; David G. Anderson; William Stewart; Cheryl Longman; Sila Hopton; Yi Shiau Ng; Emma L. Blakely; Robert W. Taylor; Maria E. Farrugia
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errSave
Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series
errlancet neurology
IF0
err2025-07-16
err0
errOAAI
errJ Robert Harkness; John H McDermott; Shea Marsden; Peter Jamieson; Kay A Metcalfe; Naz Khan; William L Macken; Robert D S Pitceathly; Christopher J Record; Reza Maroofian; Kleopas Kleopa; Kyproula Christodoulou; Ataf Sabir; Lily Islam; Saikat Santra; Enise Avci Durmusalioglu; Tahir Atik; Esra Isik; Ozgur Cogulu; Jill E Urquhart; Glenda M Beaman; Leigh A Demain; Adam Jackson; Alexander J M Blakes; Helen J Byers; Hayley Bennett; Wei-Hsiang Lin; Antony Adamson; Sanjai Patel; Wyatt W Yue; Robert W Taylor; Janine Reunert; Thorsten Marquardt; Rebecca Buchert; Tobias Haack; Heike Losch; Lukas Ryba; Petra Lassuthova; Radka Valkovičová; Jana Haberlová; Barbora Lauerová; Eva Trúsiková; Kiran Polavarapu; Ozge Aksel Kilicarslan; Hanns Lochmüller; Mina Zamani; Niloofar Chamanrou; Gholamreza Shariati; Saeid Sadeghian; Reza Azizimalamiri; Sateesh Maddirevula; Muhammad AlMuhaizea; Fowzan S Alkuraya; Rita Horvath; Serdal Gungor; Adnan Manzur; Pinki Munot; Rachael Matthews; Siddharth Banka; Mary M Reilly; Daimark Bennett; Raymond T O’Keefe; William G Newman
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errSave
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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errSave
Infantile Cerebellar-Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model
errCLINICAL GENETICS
IF2.3
err2025-04-10
err0
errOAAI
errEdgar Buhl; Suchika Garg; Marie Monaghan; Amy Preston; Marcus Likeman; Julianne Dare; Julie Evans; Lucie S. Taylor; Ian Berry; Kathryn Urankar; Paul G. D. Spry; Cathy Williams; Robert W. Taylor; Charlotte L. Alston; James J. L. Hodge; Anirban Majumdar
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errSave
Late-onset multiple-acyl-CoA-dehydrogenase deficiency-like condition: a case series from the West of Scotland
errNEUROMUSCULAR DISORDERS
IF2.8
err2025-04-01
err0
PREAI
errWatson-Fargie, Taylor; Coomber, Autumn; Edwards, Rachel; Barr, Marianne; Brennan, Kathryn; Fletcher, Elaine; Miller-Hodges, Eve; O'Sullivan, Dawn; Stewart, Kirsty; Hopton, Sila; He, Langping; Alston, Charlotte L.; Taylor, Robert W.; Straub, Volker; Topf, Ana; Stewart, William; Longman, Cheryl; Farrugia, Maria E.
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errSave
Genetic analysis and multimodal imaging confirm m.12148 T> C mitochondrial variant pathogenicity leading to multisystem dysfunction
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-03-01
err0
PREAI
errBelle, Kinsley; Kreymerman, Alexander; Young, Jill L.; Vadgama, Nirmal; Ji, Marco H.; Randhawa, Sandeep; Caicedo, Juan; Wong, Megan; Muscat, Stephanie P.; Gifford, Casey A.; Lee, Richard T.; Nasir, Jamal; Enns, Gregory M.; Karakikes, Ioannis; Schaefer, Andrew M.; Taylor, Robert W.; Mercola, Mark; Koeberl, Dwight; Wood, Edward H.
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errSave
COA5 has an essential role in the early stage of mitochondrial complex IV assembly
errLIFE SCIENCE ALLIANCE
IF2.9
err2025-01-08
err0
errOAAI
errTang, Jia Xin; Cabrera-Orefice, Alfredo; Meisterknecht, Jana; Taylor, Lucie S.; Monteuuis, Geoffray; Stensland, Maria Ekman; Szczepanek, Adam; Stals, Karen; Davison, James; He, Langping; Hopton, Sila; Nyman, Tuula A.; Jackson, Christopher B.; Pyle, Angela; Winter, Monika; Wittig, Ilka; Taylor, Robert W.
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errSave
Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease
errEMBO MOLECULAR MEDICINE
IF8.3
err2024-11-20
err1
PREAI
errVan Haute, Lindsey; Palenikova, Petra; Tang, Jia Xin; Nash, Pavel A.; Simon, Mariella T.; Pyle, Angela; Olahova, Monika; Powell, Christopher A.; Rebelo-Guiomar, Pedro; Stover, Alexander; Champion, Michael; Deshpande, Charulata; Baple, Emma L.; Stals, Karen L.; Ellard, Sian; Anselem, Olivia; Molac, Clemence; Petrilli, Giulia; Loeuillet, Laurence; Grotto, Sarah; Attie-Bitach, Tania; Abdenur, Jose E.; Taylor, Robert W.; Minczuk, Michal
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errSave
A novel missense mutation in ISCA2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4
errFRONTIERS IN PSYCHIATRY
IF3.2
err2024-10-18
err0
errOAAI
errAl-Hassnan, Zuhair; Aldosary, Mazhor; Alhargan, Aljouhra; Alqudairy, Hanan; Almass, Rawan; Alahmadi, Khaled Omar; AlShahrani, Saif; Albakheet, Albandary; Almuhaizea, Mohammad A.; Taylor, Robert W.; Colak, Dilek; Kaya, Namik
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errSave
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2024-09-26
err1
PREAI
errEllard, Sian; Morgan, Sian; Wynn, Sarah L.; Walker, Susan; Parrish, Andrew; Mein, Rachael; Juett, Ana; Ahn, Joo Wook; Berry, Ian; Cassidy, Emma-Jane; Durkie, Miranda; Fish, Louise; Hall, Richard; Howard, Emma; Rankin, Julia; Wright, Caroline F.; Deans, Zandra C.; Scott, Richard H.; Hill, Sue L.; Baple, Emma L.; Taylor, Robert W.
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errSave
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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errSave
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
errNATURE GENETICS
IF31.8
err2024-03-01
err7
errOAAI
errToepf, Ana; Cox, Dan; Zaharieva, Irina T.; Di Leo, Valeria; Sarparanta, Jaakko; Jonson, Per Harald; Sealy, Ian M.; Smolnikov, Andrei; White, Richard J.; Vihola, Anna; Savarese, Marco; Merteroglu, Munise; Wali, Neha; Laricchia, Kristen M.; Venturini, Cristina; Vroling, Bas; Stenton, Sarah L.; Cummings, Beryl B.; Harris, Elizabeth; Marini-Bettolo, Chiara; Diaz-Manera, Jordi; Henderson, Matt; Barresi, Rita; Duff, Jennifer; England, Eleina M.; Patrick, Jane; Al-Husayni, Sundos; Biancalana, Valerie; Beggs, Alan H.; Bodi, Istvan; Bommireddipalli, Shobhana; Boennemann, Carsten G.; Cairns, Anita; Chiew, Mei-Ting; Claeys, Kristl G.; Cooper, Sandra T.; Davis, Mark R.; Donkervoort, Sandra; Erasmus, Corrie E.; Fassad, Mahmoud R.; Genetti, Casie A.; Grosmann, Carla; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Lornage, Xaviere; Loescher, Wolfgang N.; Malfatti, Edoardo; Manzur, Adnan; Marti, Pilar; Mongini, Tiziana E.; Muelas, Nuria; Nishikawa, Atsuko; O'Donnell-Luria, Anne; Ogonuki, Narumi; O'Grady, Gina L.; O'Heir, Emily; Paquay, Stephanie; Phadke, Rahul; Pletcher, Beth A.; Romero, Norma B.; Schouten, Meyke; Shah, Snehal; Smuts, Izelle; Sznajer, Yves; Tasca, Giorgio; Taylor, Robert W.; Tuite, Allysa; van den Bergh, Peter; Vannoy, Grace; Voermans, Nicol C.; Wanschitz, Julia V.; Wraige, Elizabeth; Yoshimura, Kimihiko; Oates, Emily C.; Nakagawa, Osamu; Nishino, Ichizo; Laporte, Jocelyn; Vilchez, Juan J.; Macarthur, Daniel G.; Sarkozy, Anna; Cordell, Heather J.; Udd, Bjarne; Busch-Nentwich, Elisabeth M.; Muntoni, Francesco; Straub, Volker
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errSave
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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errSave
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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errSave
Conformational fingerprinting with Raman spectroscopy reveals protein structure as a translational biomarker of muscle pathology
errANALYST
IF3.3
err2024-01-01
err1
errOAAI
errAlix, James J. P.; Plesia, Maria; Dudgeon, Alexander P.; Kendall, Catherine A.; Hewamadduma, Channa; Hadjivassiliou, Marios; Gorman, Grainne S.; Taylor, Robert W.; McDermott, Christopher J.; Shaw, Pamela J.; Mead, Richard J.; Day, John C.
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errSave
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease
errBRAIN
IF11.7
err2023-12-23
err2
PREAI
errHusain, Ralf A.; Jiao, Xinfu; Hennings, J. Christopher; Giesecke, Jan; Palsule, Geeta; Beck-Woedl, Stefanie; Osmanovic, Dina; Bjorgo, Kathrine; Mir, Asif; Ilyas, Muhammad; Abbasi, Saad M.; Efthymiou, Stephanie; Dominik, Natalia; Maroofian, Reza; Houlden, Henry; Rankin, Julia; Pagnamenta, Alistair T.; Nashabat, Marwan; Altwaijri, Waleed; Alfadhel, Majid; Umair, Muhammad; Khouj, Ebtissal; Reardon, William; El-Hattab, Ayman W.; Mekki, Mohammed; Houge, Gunnar; Beetz, Christian; Bauer, Peter; Putoux, Audrey; Lesca, Gaetan; Sanlaville, Damien; Alkuraya, Fowzan S.; Taylor, Robert W.; Mentzel, Hans-Joachim; Huebner, Christian A.; Huppke, Peter; Hart, Ronald P.; Haack, Tobias B.; Kiledjian, Megerditch; Rubio, Ignacio
errShare
errSave
A genomic perspective on climate change
errEBIOMEDICINE
IF10.8
err2023-12-01
err0
errOAAI
errForzano, Francesca; de Villiers, Chantal Babb; Farley, Martin; Fowler, Hayley; Taylor, Robert W.
errShare
errSave
Genetic landscape of pediatric acute liver failure of indeterminate origin
errHEPATOLOGY
IF15.8
err2023-11-16
err8
errOAAI
errLenz, Dominic; Schlieben, Lea D.; Shimura, Masaru; Bianzano, Alyssa; Smirnov, Dmitrii; Kopajtich, Robert; Berutti, Riccardo; Adam, Ruediger; Aldrian, Denise; Baric, Ivo; Baumann, Ulrich; Bozbulut, Neslihan E.; Brugger, Melanie; Brunet, Theresa; Bufler, Philip; Birute, Burnyte; Calvo, Pier L.; Crushell, Ellen; Dalgic, Buket; Das, Anibh M.; Dezsofi, Antal; Distelmaier, Felix; Fichtner, Alexander; Freisinger, Peter; Garbade, Sven F.; Gaspar, Harald; Goujon, Louise; Hadzic, Nedim; Hartleif, Steffen; Hegen, Bianca; Hempel, Maja; Henning, Stephan; Hoerning, Andre; Houwen, Roderick; Hughes, Joanne; Iorio, Raffaele; Iwanicka-Pronicka, Katarzyna; Jankofsky, Martin; Junge, Norman; Kanavaki, Ino; Kansu, Aydan; Kaspar, Sonja; Kathemann, Simone; Kelly, Deidre; Kirsaclioglu, Ceyda T.; Knoppke, Birgit; Kohl, Martina; Koelbel, Heike; Koelker, Stefan; Konstantopoulou, Vassiliki; Krylova, Tatiana; Kuloglu, Zarife; Kuster, Alice; Laass, Martin W.; Lainka, Elke; Lurz, Eberhard; Mandel, Hanna; Mayerhanser, Katharina; Mayr, Johannes A.; McKiernan, Patrick; McClean, Patricia; McLin, Valerie; Mention, Karine; Mueller, Hanna; Pasquier, Laurent; Pavlov, Martin; Pechatnikova, Natalia; Peters, Bianca; Petkovic Ramadza, Danijela; Piekutowska-Abramczuk, Dorota; Pilic, Denisa; Rajwal, Sanjay; Rock, Nathalie; Roetig, Agnes; Santer, Rene; Schenk, Wilfried; Semenova, Natalia; Sokollik, Christiane; Sturm, Ekkehard; Taylor, Robert W.; Tschiedel, Eva; Urbonas, Vaidotas; Urreizti, Roser; Vermehren, Jan; Vockley, Jerry; Vogel, Georg-Friedrich; Wagner, Matias; van der Woerd, Wendy; Wortmann, Saskia B.; Zakharova, Ekaterina; Hoffmann, Georg F.; Meitinger, Thomas; Murayama, Kei; Staufner, Christian; Prokisch, Holger
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errSave

Research Directions

No research directions
Co-authors
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