Background

Mitochondrial diseases are common genetic disorders caused by defective energy production. They affect numerous organs and due to the clinical and genetic heterogeneity, obtaining a genetic diagnosis is often difficult yet crucial for the counselling of patients and their families. There are no cures but establishing a genetic diagnosis enables patients and their families’ access to genetic and reproductive counselling.
 
I am a State Registered Clinical Scientist and have spent the last 10 years working in the Nationally-Commissioned mitochondrial diagnostic laboratory in Newcastle. Our current testing strategy relies upon functional analysis of a muscle biopsy and selective candidate gene sequencing; whilst this strategy establishes a genetic diagnosis for many patients, approximately half our patients remain without a genetic diagnosis.  

I am particularly interested in paediatric mitochondrial disease, and spent much of my PhD improving the genetic diagnosis pathway for paediatric patients with mitochondrial disease through implementation of next-generation sequencing (NGS) technologies within a diagnostic setting.

For families who have lost a child, establishing a genetic diagnosis means that we can offer reproductive options to Mum and Dad such as prenatal testing by either chorionic villus biopsy or amniocentesis enables us to determine - from as early as 10 weeks of gestation - whether their subsequent pregnancies have inherited the same gene mutations.

My doctoral work has been remarkably successful in obtaining a rapid genetic diagnosis for patients and their families, and has enabled us to undertake prenatal testing for a number of families. 

A targeted approach to genetic diagnosis of paediatric complex I deficiency has shown that many patients' genetic defects affect a gene outwith those that encode the structural subunits and assembly factors of complex I, revealing that isolated complex I deficiency is considerably more genetically heterogeneous than initially suspected. We remain optimistic that we will be able to obtain a genetic diagnosis for these undiagnosed patients as our diagnostic algorithm continues to expand.

Qualifications

2017                            PhD, Newcastle University

2003                            BSc (Hons) Genetics (Immunology), University of Aberdeen

Professional Bodies

2007-present               HCPC registered Clinical Scientist                 CS17436

Society Membership

2004-present               British Society of Genetic Medicine

Committees

2015-present               ED&I committee member, Institute of Neurosciences, Newcastle University

• Alston CL, Stenton SL, Hudson G, Prokisch H, Taylor RW. The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi-omic pipelines. Journal of Pathology 2021, 254(4), 430-442.
• Alahmad A, Nasca A, Heidler J, Thompson K, Olahova M, Legati A, Lamantea E, Meisterknecht J, Spagnolo M, He L, Alameer S, Hakami F, Almehdar A, Ardissone A, Alston CL, McFarland R, Wittig I, Ghezzi D, Taylor RW. Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I. EMBO Molecular Medicine 2020, 12(11), e12619.
• Cotta A, Alston CL, Baptista-Junior S, Paim JF, Carvalho E, Navarro MM, Appleton M, Ng YS, Valicek J, da-Cunha-Junior AL, Lima MI, de la Rocque Ferreira A, Takata RI, Hargreaves IP, Gorman GS, McFarland R, Pierre G, Taylor RW. Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion. JIMD Reports 2020, 54(1), 45-53.
• Alston CL, Veling MT, Heidler J, Taylor LS, Alaimo JT, Sung AY, He L, Hopton S, Broomfield A, Pavaine J, Diaz J, Leon E, Wolf P, McFarland R, Prokisch H, Wortmann SB, Bonnen PE, Wittig I, Pagliarini DJ, Taylor RW. Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency. American Journal of Human Genetics 2020, 106(1), 92-101.
• Thompson K, Collier JJ, Glasgow RIC, Robertson FM, Pyle A, Blakely EL, Alston CL, Olahova M, McFarland R, Taylor RW. Recent advances in understanding the molecular genetic basis of mitochondrial disease. Journal of Inherited Metabolic Disease 2020, 43(1), 36-50.
• Fullerton M, McFarland R, Taylor RW, Alston CL. The genetic basis of isolated mitochondrial complex II deficiency. Molecular Genetics and Metabolism 2020, 131(1-2), 53-65.
• Alston CL, Blakely EL, McFarland R, Taylor RW. The m.15043G > A MT-CYB variant is not a pathogenic mtDNA variant. Journal of the Neurological Sciences 2020, 417, 116950.
• Lujan SA, Longley MJ, Humble MH, Lavender CA, Burkholder A, Blakely EL, Alston CL, Gorman GS, Turnbull DM, McFarland R, Taylor RW, Kunkel TA, Copeland WC. Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging. Genome Biology 2020, 21(1), 248.
• Olahova M, Berti CC, Collier JJ, Alston CL, Jameson E, Jones SA, Edwards N, He L, Chinnery PF, Horvath R, Goffrini P, Taylor RW, Sayer JA. Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease. Human Molecular Genetics 2019, 28(22), 3766-3776.
• Saoura M, Powell CA, Kopajtich R, Alahmad A, Al-Balool HH, Albash B, Alfadhel M, Alston CL, Bertini E, Bonnen PE, Bratkovic D, Carrozzo R, Donati MA, Di Nottia M, Ghezzi D, Goldstein A, Haan E, Horvath R, Hughes J, Invernizzi F, Lamantea E, Lucas B, Pinnock K-G, Pujantell M, Rahman S, Rebelo-Guiomar P, Santra S, Verrigni D, McFarland R, Prokisch H, Taylor RW, Levinger L, Minczuk M. Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing. Human Mutation 2019, 40(10), 1731-1748.
• Ng YS, Martikainen MH, Gorman GS, Blain A, Bugiardini E, Bunting A, Schaefer AM, Alston CL, Blakely EL, Sharma S, Hughes I, Lim A, de Goede C, McEntagart M, Spinty S, Horrocks I, Roberts M, Woodward CE, Chinnery PF, Horvath R, Nesbitt V, Fratter C, Poulton J, Hanna MG, Pitceathly RDS, Taylor RW, Turnbull DM, McFarland R. Pathogenic variants in MT-ATP6: A United Kingdom–based mitochondrial disease cohort study. Annals of Neurology 2019, 86(2), 310-315.
• Ng YS, Lax NZ, Maddison P, Alston CL, Blakely EL, Hepplewhite PD, Riordan G, Meldau S, Chinnery PF, Pierre G, Chronopoulou E, Du A, Hughes I, Morris AA, Kamakari S, Chrousos G, Rodenburg RJ, Saris CGJ, Feeney C, Hardy SA, Sakakibara T, Sudo A, Okazaki Y, Murayama K, Mundy H, Hanna MG, Ohtake A, Schaefer AM, Champion MP, Turnbull DM, Taylor RW, Pitceathly RDS, McFarland R, Gorman GS. MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load. EBioMedicine 2018, 30, 86-93.
• Alston CL, Heidler J, Dibley MG, Kremer LS, Taylor LS, Fratter C, French CE, Glasgow RIC, Feichtinger RG, Delon I, Pagnamenta AT, Dolling H, Lemonde H, Aiton N, Bjornstad A, Henneke L, Gartner J, Thiele H, Tauchmannova K, Quaghebeur G, Houstek J, Sperl W, Raymond FL, Prokisch H, Mayr JA, McFarland R, Poulton J, Ryan MT, Wittig I, Henneke M, Taylor RW. Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency. American Journal of Human Genetics 2018, 103(4), 592-601.
• Xu Z, Lo W-S, Beck DB, Schuch L, Olahova M, Kopajtich R, Chong YE, Alston CL, Seidl E, Zhai L, Lau C-F, Timchak D, LeDuc CA, Borczuk AC, Teich AF, Juusola J, Sofeso C, Muller C, Pierre G, Hilliard T, Turnpenny PD, Wagner M, Kappler M, Brasch F, Bouffard JP, Nangle LA, Yang X-L, Zhang M, Taylor RW, Prokisch H, Griese M, Chung WK, Schimmel P. Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-Translational Function. American Journal of Human Genetics 2018, 103(1), 100-114.
• Repp BM, Mastantuono E, Alston CL, Schiff M, Haack TB, Rotig A, Ardissone A, Lombes A, Catarino CB, Diodato D, Schottmann G, Poulton J, Burlina A, Jonckheere A, Munnich A, Rolinski B, Ghezzi D, Rokicki D, Wellesley D, Martinelli D, Wenhong D, Lamantea E, Ostergaard E, Pronicka E, Pierre G, Smeets HJM, Wittig I, Scurr I, De Coo IFM, Moroni I, Smet J, Mayr JA, Dai L, De Meirleir L, Schuelke M, Zeviani M, Morscher RJ, McFarland R, Seneca S, Klopstock T, Meitinger T, Wieland T, Strom TM, Herberg U, Ahting U, Sperl W, Nassogne M-C, Ling H, Fang F, Freisinger P, Van Coster R, Strecker V, Taylor RW, Haberle J, Vockley J, Prokisch H, Wortmann S. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: Is riboflavin supplementation effective?. Orphanet Journal of Rare Diseases 2018, 13, 120.
• Fitzsimons PE, Alston CL, Bonnen PE, Hughes J, Crushell E, Geraghty MT, Tetreault M, O'Reilly P, Twomey E, Sheikh Y, Walsh R, Waterham HR, Ferdinandusse S, Wanders RJA, Taylor RW, Pitt JJ, Mayne PD. Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency. American Journal of Medical Genetics, Part A 2018, 176(5), 1115-1127.
• Alaimo JT, Besse A, Alston CL, Pang K, Appadurai V, Samanta M, Smpokou P, Mcfarland R, Taylor RW, Bonnen PE. Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion. Human Mutation 2018, 39(4), 537-549.
• Feichtinger RG, Olahova M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMauro S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk M, Prokisch H. Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. American Journal of Human Genetics 2017, 101(4), 525-538.
• Sommerville EW, Ng YS, Alston CL, Dallabona C, Gilberti M, He L, Knowles C, Chin SL, Schaefer AM, Falkous G, Murdoch D, Longman C, De Visser M, Bindoff LA, Rawles JM, Dean JCS, Petty RK, Farrugia ME, Haack TB, Prokisch H, McFarland R, Turnbull DM, Donnini C, Taylor RW, Gorman GS. Clinical features, molecular heterogeneity, and prognostic implications in YARS2-related mitochondrial myopathy. JAMA Neurology 2017, 74(6), 686-694.
• Sommerville EW, Alston CL, Pyle A, He L, Falkous G, Naismith K, Chinnery PF, McFarland R, Taylor RW. De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities. Neurology Genetics 2017, 3(5), e187.
• Sallevelt SCEH, de Die-Smulders CEM, Hendrickx ATM, Hellebrekers DMEI, de Coo IFM, Alston CL, Knowles C, Taylor RW, McFarland R, Smeets HJM. De novo mtDNA point mutations are common and have a low recurrence risk. Journal of Medical Genetics 2017, 54(2), 114-124.
• Martikainen MH, Grady JP, Ng YS, Alston CL, Gorman GS, Taylor RW, McFarland R, Turnbull DM. Decreased male reproductive success in association with mitochondrial dysfunction. European Journal of Human Genetics 2017, 25(10), 1162-1164.
• Glasgow RIC, Thompson K, Barbosa IA, He L, Alston CL, Deshpande C, Simpson MA, Morris AAM, Neu A, Löbel U, Hall J, Prokisch H, Haack TB, Hempel M, McFarland R, Taylor RW. Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits. Neurogenetics 2017, 18(4), 227-235.
• Lehmann D, Kornhuber ME, Clajus C, Alston CL, Wienke A, Deschauer M, Taylor RW, Zierz S. Peripheral neuropathy in patients with CPEO associated with single and multiple mtDNA deletions. Neurology Genetics 2017, 2(6), e133.
• Craven L, Alston CL, Taylor RW, Turnbull DM. Recent Advances in Mitochondrial Disease. Annual Review of Genomics and Human Genetics 2017, 18, 257-275.
• Alston CL, Rocha MC, Lax NZ, Turnbull DM, Taylor RW. The genetics and pathology of mitochondrial disease. Journal of Pathology 2017, 241(2), 236-250.
• Ferrer-Cortès X, Narbona J, Bujan N, Matalonga L, Del Toro M, Arranz JA, Riudor E, Garcia-Cazorla A, Jou C, O'Callaghan M, Pineda M, Montero R, Arias A, Garcia-Villoria J, Alston CL, Taylor RW, Briones P, Ribes A, Tort F. A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis. Mitochondrion 2016, 26, 72-80.
• Alston CL, Howard C, Oláhová M, Hardy SA, He L, Murray PG, O'Sullivan S, Doherty G, Shield JP, Hargreaves IP, Monavari AA, Knerr I, McCarthy P, Morris AA, Thorburn DR, Prokisch H, Clayton PE, McFarland R, Hughes J, Crushell E, Taylor RW. A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype. Journal of Medical Genetics 2016, 53(9), 634-641.
• Alston CL, Compton AG, Formosa LE, Strecker V, Oláhová M, Haack TB, Smet J, Stouffs K, Diakumis P, Ciara E, Cassiman D, Romain N, Yarham JW, He L, De Paepe B, Vanlander AV, Seneca S, Feichtinger RG, Płoski R, Rokicki D, Pronicka E, Haller RG, Van Hove JL, Bahlo M, Mayr JA, Vancoster R, Prokisch H, Wittig I, Ryan MT, Thorburn DR, Taylor RW. Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype. American Journal of Human Genetics 2016, 99(1), 217-227.
• Martikainen MH, Ng YS, Gorman GS, Alston CL, Blakely EL, Schaefer AM, Chinnery PF, Burn DJ, Taylor RW, McFarland R, Turnbull DM. Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease. JAMA Neurology 2016, 73(6), 668-674.
• Silwal A, Morris A, Warren D, Vadlamani G, Alston CL, Taylor RW. Cystic Leukoencephalopathy due to NDUFV1 mutation – A Report of the Phenotype and Its Rare Co-occurrence with Primary Hyperoxaluria. Journal of Pediatric Neurology 2016, 14(3), 126-132.
• Vincent AE, Rosa HS, Alston CL, Grady JP, Rygiel KA, Rocha MC, Barresi R, Taylor RW, Turnbull DM. Dysferlin mutations and mitochondrial dysfunction. Neuromuscular Disorders 2016, 26(11), 782-788.
• Wilson IJ, Carling PJ, Alston CL, Floros VI, Pyle A, Hudson G, Sallevelt SCEH, Lamperti C, Carelli V, Bindoff LA, Samuels DC, Wonnapinij P, Zeviani M, Taylor RW, Smeets HJM, Horvath R, Chinnery PF. Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck. Human Molecular Genetics 2016, 25(5), 1031-1041.
• Vincent AE, Grady JP, Rocha MC, Alston CL, Rygiel KA, Barresi R, Taylor RW, Turnbull DM. Mitochondrial dysfunction in myofibrillar myopathy. Neuromuscular Disorders 2016, 26(10), 691-701.
• Floyd BJ, Wilkerson EM, Veling MT, Minogue CE, Xia CW, Beebe ET, Wrobel RL, Cho H, Kremer LS, Alston CL, Gromek KA, Dolan BK, Ulbrich A, Stefely JA, Bohl SL, Werner KM, Jochem A, Westphall MS, Rensvold JW, Taylor RW, Prokisch H, Kim JJP, Coon JJ, Pagliarini DJ. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. Molecular Cell 2016, 63(4), 621-632.
• Van Coster R, Smet J, De Paepe B, Vanlander A, Vantroys E, Alston C, Compton A, Torburn D, Seneca S, Taylor R. Pathogenic mutations in TMEM126B, a recently discovered complex I assembly factor, identified in four siblings from two Belgian families. In: 21st International Congress of the World Muscle Society. 2016, Granada, Spain: Elsevier Ltd.
• Ng YS, Feeney C, Schaefer AM, Holmes CE, Hynd P, Alston CL, Grady JP, Roberts M, Maguire M, Bright A, Taylor RW, Yiannakou Y, McFarland R, Turnbull DM, Gorman GS. Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination. Annals of Neurology 2016, 80(5), 686-692.
• Metodiev MD, Thompson K, Alston CL, Morris AAM, He LP, Assouline Z, Rio M, Bahi-Buisson N, Pyle A, Griffin H, Siira S, Filipovska A, Munnich A, Chinnery PF, McFarland R, Rotig A, Taylor RW. Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies. American Journal of Human Genetics 2016, 98(5), 993-1000.
• Thompson K, Majd H, Dallabona C, Reinson K, King MS, Alston CL, He LP, Lodi T, Jones SA, Fattal-Valevski A, Fraenkel ND, Saada A, Haham A, Isohanni P, Vara R, Barbosa IA, Simpson MA, Deshpande C, Puusepp S, Bonnen PE, Rodenburg RJ, Suomalainen A, Õunap K, Elpeleg O, Ferrero I, McFarland R, Kunji ERS, Taylor RW. Recurrent De Novo Dominant Mutations in SLC2SA4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number. American Journal of Human Genetics 2016, 99(4), 860-876.
• Ng YS, Grady JP, Lax NZ, Bourke JP, Alston CL, Hardy SA, Falkous G, Schaefer AG, Radunovic A, Mohiddin SA, Ralph M, Alhakim A, Taylor RW, McFarland R, Turnbull DM, Gorman GS. Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults. European Heart Journal 2016, 37(32), 2552-2559.
• Kennedy H, Haack TB, Hartill V, Matakovic L, Baumgartner ER, Potter H, Mackay R, Alston CL, O'Sullivan S, McFarland R, Connolly G, Gannon C, King R, Mead S, Crozier I, Chan W, Florkowski CM, Sage M, Hofken T, Alhaddad B, Kremer LS, Kopajtich R, Feichtinger RG, Sperl W, Rodenburg RJ, Minet JC, Dobbie A, Strom TM, Meitinger T, George PM, Johnson CA, Taylor RW, Prokisch H, Doudney K, Mayr JA. Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2. American Journal of Human Genetics 2016, 99(3), 674-682.
• Ng YS, Alston CL, Diodato D, Morris AA, Ulrick N, Kmoch S, Houstek J, Martinelli D, Haghighi A, Atiq M, Gamero MA, Garcia-Martinez E, Kratochvilova H, Santra S, Brown RM, Brown GK, Ragge N, Monavari A, Pysden K, Ravn K, Casey JP, Khan A, Chakrapani A, Vassallo G, Simons C, McKeever K, O'Sullivan S, Childs AM, Ostergaard E, Vanderver A, Goldstein A, Vogt J, Taylor RW, McFarland R. The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. Journal of Medical Genetics 2016, 53(11), 768-775.
• Kullar P, Taylor RW, Alston CL, Blakely EL, Ball S, Differ A-M, Fratter C, Sweeney MG, Chinnery PF. The frequency of the m.1555A > G (MTRNR1) variant in UK patients with suspected mitochondrial deafness. Hearing, Balance and Communication 2016, 14(2), 101-102.
• de Laat P, Janssen MCH, Alston CL, Taylor RW, Rodenburg RJT, Smeitink JAM. Three families with 'de novo' m.3243A > G mutation. BBA Clinical 2016, 6, 19-24.
• Olahova M, Hardy SA, Hall J, Yarham JW, Haack TB, Wilson WC, Alston CL, He L, Aznauryan E, Brown RM, Brown GK, Morris AAM, Mundy H, Broomfield A, Barbosa IA, Simpson MA, Deshpande C, Moeslinger D, Koch J, Stettner GM, Bonnen PE, Prokisch H, Lightowlers RN, McFarland R, Chrzanowska-Lightowlers ZMA, Taylor RW. LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population. Brain 2015, 138(12), 3503-3519.
• Powell CA, Kopajtich R, D'Souza AR, Rorbach J, Kremer LS, Husain RA, Dallabona C, Donnini C, Alston CL, Griffin H, Pyle A, Chinnery PF, Strom TM, Meitinger T, Rodenburg RJ, Schottmann G, Schuelke M, Romain N, Haller RG, Ferrero I, Haack TB, Taylor RW, Prokisch H, Minczukl M. TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies. American Journal of Human Genetics 2015, 97(2), 319-328.
• Keogh MJ, Daud D, Pyle A, Duff J, Griffin H, He L, Alston CL, Steele H, Taggart S, Basu AP, Taylor RW, Horvath R, Ramesh V, Chinnery PF. A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism. Neurogenetics 2015, 16(1), 65-67.
• Alston CL, Berti CC, Blakely EL, Oláhová M, He L, McMahon CJ, Olpin SE, Hargreaves IP, Nolli C, McFarland R, Goffrini P, O'Sullivan MJ, Taylor RW. A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency. Human Genetics 2015, 134(8), 869-879.
• Olahova M, Haack TB, Alston CL, Houghton JAC, He L, Morris AAM, Brown GK, McFarland R, Chrzanowska-Lightowlers ZMA, Lightowlers RN, Prokisch H, Taylor RW. A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency. European Journal of Human Genetics 2015, 23(7), 935-939.
• Wesolowska M, Gorman GS, Alston CL, Pajak A, Pyle A, He L, Griffin H, Chinnery PF, Miller JAL, Schaefer AM, Taylor RW, Lightowlers RN, Chrzanowska-Lightowlers ZM. Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease. Journal of Neuromuscular Diseases 2015, 2(4), 409-419.
• Gorman GS, Schaefer AM, Ng Y, Gomez N, Blakely EL, Alston CL, Feeney C, Horvath R, Yu-Wai-Man P, Chinnery PF, Taylor RW, Turnbull DM, McFarland R. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. Annals of Neurology 2015, 77(5), 753-759.
• Hanisch F, Kornhuber M, Alston CL, Taylor RW, Deschauer M, Zierz S. SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions. Journal of Neurology, Neurosurgery and Psychiatry 2015, 86(6), 630-634.
• Hall AM, Vilasi A, Garcia-Perez I, Lapsley M, Alston CL, Pitceathly RDS, McFarland R, Schaefer AM, Turnbull DM, Beaumont NJ, Hsuan JJ, Cutillas PR, Lindon JC, Holmes E, Unwin RJ, Taylor RW, Gorman GS, Rahman S, Hanna MG. The urinary proteome and metabonome differ from normal in adults with mitochondrial disease. Kidney International 2015, 87(3), 610-622.
• Ng Y, Alston C, Horvath R, Farrugia M, Chinnery P, Turnbull D, Taylor R, McFarland R, Schaefer A, Gorman G. A genetic weakness - Phoenician legacy or Celtic heritage?. In: Association of British Neurologists Annual Meeting. 2014, Cardiff: BMJ Publishing Group.
• Nesbitt V, Alston CL, Blakely EL, Fratter C, Feeney CL, Poulton J, Brown GK, Turnbull DM, Taylor RW, McFarland R. A national perspective on prenatal testing for rnitochondrial disease. European Journal of Human Genetics 2014, 22(11), 1255-1259.
• Griffin HR, Pyle A, Blakely EL, Alston CL, Duff J, Hudson G, Horvath R, Wilson IJ, Santibanez-Koref M, Taylor RW, Chinnery PF. Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations. Genetics in Medicine 2014, 16(12), 962-971.
• Blakely EL, Alston CL, Lecky B, Chakrabarti B, Falkous G, Turnbull DM, Taylor RW, Gorman GS. Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation. Neuromuscular Disorders 2014, 24(6), 533-536.
• Almalki A, Alston CL, Parker A, Simonic I, Mehta SG, He LP, Reza M, Oliveira JMA, Lightowlers RN, McFarland R, Taylor RW, Chrzanowska-Lightowlers ZMA. Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency. Biochimica et Biophysica Acta (BBA) Molecular Basis of Disease 2014, 1842(1), 56-64.
• Pfeffer G, Gorman GS, Griffin H, Kurzawa-Akanbi M, Blakely EL, Wilson I, Sitarz K, Moore D, Murphy JL, Alston CL, Pyle A, Coxhead J, Payne B, Gorrie GH, Longman C, Hadjivassiliou M, McConville J, Dick D, Imam I, Hilton D, Norwood F, Baker MR, Jaiser SR, Yu-Wai-Man P, Farrell M, McCarthy A, Lynch T, McFarland R, Schaefer AM, Turnbull DM, Horvath R, Taylor RW, Chinnery PF. Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance. Brain 2014, 137(5), 1323-1336.
• Byerley SK, Blakely EW, Alston CL, Turnbull DM, Stewart JA, McFarland R, Taylor RW, Herbert M. PGD to prevent mitochondrial disease: embryological aspects. In: 13th Annual Preimplantation Genetic Diagnosis International Society (PGDIS) Meeting. 2014, Canterbury, UK: Springer.
• Craven L, Irving L, Alston CL, Watson EL, Byerley S, McFarland R, Stewart JA, Taylor RW, Herbert M, Turnbull DM. Preimplantation genetic diagnosis for mitochondrial DNA disease. In: 13th Annual Preimplantation Genetic Diagnosis International Society (PGDIS) Meeting. 2014, Canterbury, UK: Springer.
• Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He LP, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski-Feder E, Abicht A, Czermin B, Kleinle S, Morris AAM, Vassallo G, Gorman GS, Ramesh V, Turnbull DM, Santibanez-Koref M, McFarland R, Horvath R, Chinnery PF. Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies. Journal of the American Medical Association 2014, 312(1), 68-77.
• Lax NZ, Gnanapavan S, Dowson SJ, Alston CL, He LP, Polvikoski TM, Jaros E, O'Donovan DG, Yarham JW, Turnbull DM, Dean AF, Taylor RW. Early-Onset Cataracts, Spastic Paraparesis, and Ataxia Caused by a Novel Mitochondrial tRNA(Glu) (MT-TE) Gene Mutation Causing Severe Complex I Deficiency: A Clinical, Molecular, and Neuropathologic Study. Journal of Neuropathology and Experimental Neurology 2013, 72(2), 164-175.
• Alston CL, Schaefer AM, Raman P, Solaroli N, Krishnan KJ, Blakely EL, He LP, Craig K, Roberts M, Vyas A, Nixon J, Horvath R, Turnbull DM, Karlsson A, Gorman GS, Taylor RW. Late-Onset Respiratory Failure Due to Tk2 Mutations Causing Multiple MtDNA Deletions. Neurology 2013, 81(23), 2051-2053.
• Spyropoulos A, Manford M, Horvath R, Alston CL, Yu-Wai-Man P, He LP, Taylor RW, Chinnery PF. Near-Identical Segregation of mtDNA Heteroplasmy in Blood, Muscle, Urinary Epithelium, and Hair Follicles in Twins With Optic Atrophy, Ptosis, and Intractable Epilepsy. JAMA Neurology 2013, 70(12), 1552-1555.
• Blakely EL, Yarham JW, Alston CL, Craig K, Poulton J, Brierley C, Park SM, Dean A, Xuereb JH, Anderson KN, Compston A, Allen C, Sharif S, Enevoldson P, Wilson M, Hammans SR, Turnbull DM, McFarland R, Taylor RW. Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease. Human Mutation 2013, 34(9), 1260-1268.
• Yarham JW, Blakely EL, Alston CL, Roberts ME, Ealing J, Pal P, Turnbull DM, McFarland R, Taylor RW. The m.3291T > C mt-tRNA^Leu(UUR) mutation is definitely pathogenic and causes multisystem mitochondrial disease. Journal of the Neurological Sciences 2013, 325(1-2), 165-169.
• Pfeffer G, Blakely EL, Alston CL, Hassani A, Boggild M, Horvath R, Samuels DC, Taylor RW, Chinnery PF. Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations. Journal of Neurology, Neurosurgery and Psychiatry 2012, 83(9), 883-886.
• Pitceathly RDS, Smith C, Fratter C, Alston CL, He LP, Craig K, Blakely EL, Evans JC, Taylor J, Shabbir Z, Deschauer M, Pohl U, Roberts ME, Jackson MC, Halfpenny CA, Turnpenny PD, Lunt PW, Hanna MG, Schaefer AM, McFarland R, Horvath R, Chinnery PF, Turnbull DM, Poulton J, Taylor RW, Gorman GS. Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. Brain 2012, 135(11), 3392-3403.
• Murphy JL, Ratnaike TE, Shang ES, Falkous G, Blakely EL, Alston CL, Taivassalo T, Haller RG, Taylor RW, Turnbull DM. Cytochrome c oxidase-intermediate fibres: Importance in understanding the pathogenesis and treatment of mitochondrial myopathy. Neuromuscular Disorders 2012, 22(8), 690-698.
• Bates MG, Nesbitt V, Kirk R, He L, Blakely EL, Alston CL, Brodlie M, Hasan A, Taylor RW, McFarland R. Mitochondrial respiratory chain disease in children undergoing cardiac transplantation: A prospective study. International Journal of Cardiology 2012, 155(2), 305–306.
• Alston CL, Davison JE, Meloni F, van der Westhuizen FH, He LP, Hornig-Do HT, Peet AC, Gissen P, Goffrini P, Ferrero I, Wassmer E, McFarland R, Taylor RW. Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. Journal of Medical Genetics 2012, 49(9), 569-577.
• Nesbitt V, Morrison PJ, Crushell E, Donnelly DE, Alston CL, He LP, Mcfarland R, Taylor RW. The clinical spectrum of the m.10191T > C mutation in complex I-deficient Leigh syndrome. Developmental Medicine and Child Neurology 2012, 54(6), 500-506.
• Yarham JW, Al-Dosary M, Blakely EL, Alston CL, Taylor RW, Elson JL, McFarland R. A Comparative Analysis Approach to Determining the Pathogenicity of Mitochondrial tRNA Mutations. Human Mutation 2011, 32(11), 1319-1325.
• Alston CL, He LP, Morris AA, Hughes I, de Goede C, Turnbull DM, McFarland R, Taylor RW. Maternally inherited mitochondrial DNA disease in consanguineous families. European Journal of Human Genetics 2011, 19(12), 1226-1229.
• Alston CL, Morak M, Reid C, Hargreaves IP, Pope SAS, Land JM, Heales SJ, Horvath R, Mundy H, Taylor RW. A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy. Neuromuscular Disorders 2010, 20(2), 131-135.
• Alston CL, Lowe J, Turnbull DM, Maddison P, Taylor RW. A novel mitochondrial tRNA(Glu) (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle. Journal of the Neurological Sciences 2010, 298(1-2), 140-144.
• Blackwood JK, Whittaker RG, Blakely EL, Alston CL, Turnbull DM, Taylor RW. The investigation and diagnosis of pathogenic mitochondrial DNA mutations in human urothelial cells. Biochemical and Biophysical Research Communications 2010, 393(4), 740-745.
• Tuppen HA, Hogan VE, He L, Blakely EL, Worgan L, Al-Dosary M, Saretzki G, Alston CL, Morris AA, Clarke M, Jones S, Devlin AM, Mansour S, Chrzanowska-Lightowlers ZMA, Thorburn DR, McFarland R, Taylor RW. The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families. Brain 2010, 133(10), 2952-2963.
• Alston CL, Bender A, Hargreaves IP, Mundy H, Deshpande C, Klopstock T, McFarland R, Horvath R, Taylor RW. The pathogenic m.3243A > T mitochondrial DNA mutation is associated with a variable neurological phenotype. Neuromuscular Disorders 2010, 20(6), 403-406.
• Whittaker RG, Blackwood JK, Alston CL, Blakely EL, Elson JL, McFarland R, Chinnery PF, Turnbull DM, Taylor RW. Urine Heteroplasmy is the Best Predictor of Clinical Outcome in the m.3243A>G mtDNA Mutation. Neurology 2009, 72(6), 568-569.