Russell Mc Laughlin
Ussher Assistant Professor, Genetics

Publications and Further Research Outputs

Peer-Reviewed Publications

Byrne RP, Martiniano R, Cassidy LM, Carrigan M, Hellenthal G, Hardiman O, Bradley DG, McLaughlin RL, Insular Celtic population structure and genomic footprints of migration, PLOS Genetics, 14, 2018, pe1007152 Journal Article, 2018 DOI TARA - Full Text

Margaret O'Brien, Tom Burke, Mark Heverin, Alice Vajda, Russell McLaughlin, John Gibbons, Susan Byrne, Marta Pinto-Grau, Marwa Elamin, Niall Pender, Orla Hardiman, Clustering of neuropsychiatric disease in first-degree and second-degree relatives of patients with amyotrophic lateral sclerosis, JAMA neurology, 74, 2017, p1425-1430 Journal Article, 2017

Taha Omer, Eoin Finegan, Siobhan Hutchinson, Mark Doherty, Alice Vajda, Russell L McLaughlin, Niall Pender, Orla Hardiman, Peter Bede, Neuroimaging patterns along the ALS-FTD spectrum: a multiparametric imaging study, Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, (18), 2017, p611-623 Journal Article, 2017 DOI

Martiniano R, Cassidy LM, Ó'Maoldúin R, McLaughlin R, Silva NM, Manco L, Fidalgo D, Pereira T, Coelho MJ, Serra M, Burger J, Parreira R, Moran E, Valera AC, Porfirio E, Boaventura R, Silva AM, Bradley DG., The population genomics of archaeological transition in west Iberia: Investigation of ancient substructure using imputation and haplotype-based methods, PLoS Genetics, 13, 2017, pe1006852 Journal Article, 2017 DOI

Tom Burke, Marta Pinto-Grau, Katie Lonergan, Peter Bede, Meadbh O'Sullivan, Mark Heverin, Alice Vajda, Russell L McLaughlin, Niall Pender, Orla Hardiman., A Cross-sectional population-based investigation into behavioral change in amyotrophic lateral sclerosis: subphenotypes, staging, cognitive predictors, and survival, Annals of Clinical and Translational Neurology , 4, (5), 2017, p305-317 Journal Article, 2017

Dolzhenko E, van Vugt JJFA, Shaw RJ, Bekritsky MA, van Blitterswijk M, Narzisi G, Ajay SS, Rajan V, Lajoie BR, Johnson NH, Kingsbury Z, Humphray SJ, Schellevis RD, Brands WJ, Baker M, Rademakers R, Kooyman M, Tazelaar GHP, van Es MA, McLaughlin R, Sproviero W, Shatunov A, Jones A, Al Khleifat A, Pittman A, Morgan S, Hardiman O, Al-Chalabi A, Shaw C, Smith B, Neo EJ, Morrison K, Shaw PJ, Reeves C, Winterkorn L, Wexler NS; US-Venezuela Collaborative Research Group, Housman DE, Ng CW, Li AL, Taft RJ, van den Berg LH, Bentley DR, Veldink JH, Eberle MA., Detection of long repeat expansions from PCR-free whole-genome sequence data, Genome Res., 27, 2017, p1895-1903 Journal Article, 2017

Iyer PM, Mohr K, Broderick M, Gavin B, Burke T, Bede P, Pinto-Grau M, Pender NP, McLaughlin R, Vajda A, Heverin M, Lalor EC, Hardiman O, Nasseroleslami B, Mismatch Negativity as an Indicator of Cognitive Sub-Domain Dysfunction in Amyotrophic Lateral Sclerosis, Front Neurol, 8, 2017, p395- Journal Article, 2017

McLaughlin RL, Schijven D, van Rheenen W, van Eijk KR, O'Brien M, Kahn RS, Ophoff RA, Goris A, Bradley DG, Al-Chalabi A, van den Berg LH, Luykx JJ, Hardiman O, Veldink JH, Project MinE GWAS Consortium, Schizophrenia Working Group of the Psychiatric Genomics Consortium, Genetic correlation between amyotrophic lateral sclerosis and schizophrenia., Nature Communications, 2017, p14774 Journal Article, 2017 TARA - Full Text DOI

Van Der Spek RA, Van Rheenen W, Pulit SL, Kenna KP, Ticozzi N, Kooyman M, McLaughlin RL, Moisse M, Van Eijk KR, Van Vugt JJFA, Andersen P, Nazli Basak A, Blair I, De Carvalho M, Chio A, Corcia P, Couratier P, Drory VE, Glass JD, Hardiman O, Mora JS, Morrison KE, Mitne-Neto M, Robberecht W, Shaw PJ, Panadés MP, Van Damme P, Silani V, Gotkine M, Weber M, Van Es MA, Landers JE, Al-Chalabi A, Van Den Berg LH, Veldink JH; PROJECT MINE ALS SEQUENCING CONSORTIUM., Reconsidering the causality of TIA1 mutations in ALS, Amyotroph Lateral Scler Frontotemporal Degener, 13, 2017, p1-3 Journal Article, 2017

Vajda A, McLaughlin RL, Heverin M, Thorpe O, Abrahams S, Al-Chalabi A, Hardiman O, Genetic testing in ALS: A survey of current practices., Neurology, 88, (10), 2017, p991 - 999 Journal Article, 2017 DOI

Rooney J, Fogh I, Westeneng HJ, Vajda A, McLaughlin R, Heverin M, Jones A, van Eijk R, Calvo A, Mazzini L, Shaw C, Morrison K, Shaw PJ, Robberecht W, Van Damme P, Al-Chalabi A, van den Berg L, Chiò A, Veldink J, Hardiman O, C9orf72 expansion differentially affects males with spinal onset amyotrophic lateral sclerosis., Journal of neurology, neurosurgery, and psychiatry, 88, (4), 2017, p281 - 281 Journal Article, 2017 DOI

van Rheenen W, Shatunov A, Dekker AM, McLaughlin RL, Diekstra FP, Pulit SL, van der Spek RA, Võsa U, de Jong S, Robinson MR, Yang J, Fogh I, van Doormaal PT, Tazelaar GH, Koppers M, Blokhuis AM, Sproviero W, Jones AR, Kenna KP, van Eijk KR, Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis., Nature Genetics, 48, (9), 2016, p1043 - 1048 Journal Article, 2016

Martiniano R, Caffell A, Holst M, Hunter-Mann K, Montgomery J, MÃ"ldner G, McLaughlin R.L, Teasdale M.D, Van Rheenen W, Veldink J.H, Van Den Berg L.H, Hardiman O, Carroll M, Roskams S, Oxley J, Morgan C, Thomas M.G, Barnes I, McDonnell C, Collins M.J, Bradley D.G, Genomic signals of migration and continuity in Britain before the Anglo-Saxons, Nature Communications, 7, 2016, 10326- Journal Article, 2016 TARA - Full Text DOI URL

Rooney J, Vajda A, Heverin M, Crampsie A, Tobin K, McLaughlin R, Staines A, Hardiman O, No association between soil constituents and amyotrophic lateral sclerosis relative risk in Ireland., Environmental research, 147, 2016, p102-7 Journal Article, 2016 DOI

Fogh I, Lin K, Tiloca C, Rooney J, Gellera C, Diekstra FP, Ratti A, Shatunov A, van Es MA, Proitsi P, Jones A, Sproviero W, Chiò A, McLaughlin RL, Sorarù G, Corrado L, Stahl D, Del Bo R, Cereda C, Castellotti B, Glass JD, Newhouse S, Dobson R, Smith BN, Topp S, van Rheenen W, Meininger V, Melki J, Morrison KE, Shaw PJ, Leigh PN, Andersen PM, Comi GP, Ticozzi N, Mazzini L, D'Alfonso S, Traynor BJ, Van Damme P, Robberecht W, Brown RH, Landers JE, Hardiman O, Lewis CM, van den Berg LH, Shaw CE, Veldink JH, Silani V, Al-Chalabi A, Powell J, Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis., JAMA neurology, 73, (7), 2016, p812-20 Journal Article, 2016 DOI

Bede P, Iyer PM, Schuster C, Elamin M, Mclaughlin RL, Kenna K, Hardiman O., The selective anatomical vulnerability of ALS: 'disease-defining' and 'disease-defying' brain regions., Amyotroph Lateral Scler Frontotemporal Degener., 2016, p1-10 Journal Article, 2016 DOI

Kenna KP, van Doormaal PT, Dekker AM, Ticozzi N, Kenna BJ, Diekstra FP, van Rheenen W, van Eijk KR, Jones AR, Keagle P, Shatunov A, Sproviero W, Smith BN, van Es MA, Topp SD, Kenna A, Miller JW, Fallini C, Tiloca C, McLaughlin RL, NEK1 variants confer susceptibility to amyotrophic lateral sclerosis., Nature Genetics, 48, (9), 2016, p1037 - 1042 Journal Article, 2016

Rooney JP, Tobin K, Crampsie A, Vajda A, Heverin M, McLaughlin R, Staines A, Hardiman O, Social deprivation and population density are not associated with small area risk of amyotrophic lateral sclerosis., Environmental research, 142, 2015, p141-7 Journal Article, 2015 URL

Genetics of ALS in, Susanne A. Schneider, José M. Tomás Brás , Movement Disorder Genetics, Springer, 2015, pp385 - 410, [Russell McLaughlin] Book Chapter, 2015

Rooney J, Vajda A, Heverin M, Elamin M, Crampsie A, McLaughlin R, Staines A, Hardiman O, Spatial cluster analysis of population amyotrophic lateral sclerosis risk in Ireland., Neurology, 84, (15), 2015, p1537-44 Journal Article, 2015 DOI URL

McLaughlin RL, Kenna KP, Vajda A, Bede P, Elamin M, Cronin S, Donaghy CG, Bradley DG, Hardiman O, Second-generation Irish genome-wide association study for amyotrophic lateral sclerosis., Neurobiology of aging, 36, (2), 2015, p1221.e7-13 Journal Article, 2015

Aloraifi F, McDevitt T, Martiniano R, McGreevy J, McLaughlin R, Egan CM, Cody N, Meany M, Kenny E, Green AJ, Bradley DG, Geraghty JG, Bracken AP., Detection of novel germline mutations for breast cancer in non-BRCA1/2 families., FEBS J., 282, (17), 2015, p3424 - 3437 Journal Article, 2015

McLaughlin RL, Kenna KP, Vajda A, Heverin M, Byrne S, Donaghy CG, Cronin S, Bradley DG, Hardiman O., Homozygosity mapping in an Irish ALS case-control cohort describes local demographic phenomena and points towards potential recessive risk loci, Genomics , 105, (4), 2015, p237-241 Journal Article, 2015 DOI

P Bede, C Schuster, M Elamin, R Mclaughlin, K Kenna, O Hardiman. , The selective anatomical vulnerability of ALS - "disease-defining" and "disease defying" brain regions., Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 17, (7-8), 2015, p561 - 570 Journal Article, 2015

Stela Lefter, Orla Hardiman, Russell L. McLaughlin, Sinead M. Murphy, Michael Farrell, Aisling M. Ryan, A novel MYH7 Leu1453pro mutation resulting in Laing distal myopathy in an Irish family, Neuromuscular Disorders , 25, (2), 2015, p155 - 160 Journal Article, 2015

Jones ER, Gonzalez-Fortes G, Connell S, Siska V, Eriksson A, Martiniano R, McLaughlin RL, Gallego Llorente M, Cassidy LM, Gamba C, Meshveliani T, Bar-Yosef O, Müller W, Belfer-Cohen A, Matskevich Z, Jakeli N, Higham TF, Currat M, Lordkipanidze D, Hofreiter M, Manica A, Pinhasi R, Bradley DG, Upper Palaeolithic genomes reveal deep roots of modern Eurasians., Nature communications, 6, 2015, p8912 Journal Article, 2015 DOI TARA - Full Text

Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp S, Kenna KP, Scotter EL, Kost J, Keagle P, Miller JW, Calini D, Vance C, Danielson EW, Troakes C, Tiloca C, Al-Sarraj S, Lewis EA, King A, Colombrita C, Pensato V, Castellotti B, de Belleroche J, Baas F, ten Asbroek AL, Sapp PC, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Muñoz-Blanco JL, Simpson M; SLAGEN Consortium, van Rheenen W, Diekstra FP, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Morrison KE, Williams KL, Nicholson GA, Blair IP, Dion PA, Leblond CS, Rouleau GA, Hardiman O, Veldink JH, van den Berg LH, Al-Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, García-Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH Jr, Silani V, Shaw CE, Landers JE., Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS., Neuron. , 84, (2), 2014, p324 - 331 Journal Article, 2014 DOI

Gamba C, Jones ER, Teasdale MD, McLaughlin RL, Gonzalez-Fortes G, Mattiangeli V, Domboróczki L, K"vári I, Pap I, Anders A, Whittle A, Dani J, Raczky P, Higham TF, Hofreiter M, Bradley DG, Pinhasi R, Genome flux and stasis in a five millennium transect of European prehistory., Nature Communications, 5, 2014, p5257 Journal Article, 2014

McLaughlin RL, Kenna KP, Vajda A, Byrne S, Bradley DG, Hardiman O, UBQLN2 mutations are not a frequent cause of amyotrophic lateral sclerosis in Ireland., Neurobiology of aging, 35, (1), 2014, p267.e9-11 Journal Article, 2014 DOI

Fahey C, Byrne S, McLaughlin R, Kenna K, Shatunov A, Donohoe G, Gill M, Al-Chalabi A, Bradley DG, Hardiman O, Corvin AP, Morris DW, Analysis of the hexanucleotide repeat expansion and founder haplotype at C9ORF72 in an Irish psychosis case-control sample., Neurobiology of aging, 35, (6), 2014, p1510.e1-1510.e5 Journal Article, 2014 TARA - Full Text DOI

Kenna, KP, McLaughlin, RL, Hardiman, O, Bradley, DG, Using Reference Databases of Genetic Variation to Evaluate the Potential Pathogenicity of Candidate Disease Variants, HUMAN MUTATION, 34, (6), 2013, p836-841 Journal Article, 2013 DOI

Kenna KP, McLaughlin RL, Byrne S, Elamin M, Heverin M, Kenny EM, Cormican P, Morris DW, Donaghy CG, Bradley DG, Hardiman O, Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing., Journal of medical genetics, 50, (11), 2013, p776-83 Journal Article, 2013 DOI TARA - Full Text

Byrne S, Heverin M, Elamin M, Bede P, Lynch C, Kenna K, McLaughlin R, Walsh C, Al Chalabi A, Hardiman O, Aggregation of neurologic and neuropsychiatric disease in amyotrophic lateral sclerosis kindreds: a population-based case-control cohort study of familial and sporadic amyotrophic lateral sclerosis., Annals of neurology, 74, (5), 2013, p699-708 Journal Article, 2013 DOI

Bede P, Elamin M, Byrne S, McLaughlin R, Kenna K, Vajda A, Pender N, Bradley DG, Hardiman O, Basal ganglia involvement in Amyotrophic Lateral Sclerosis, Neurology, 81, 2013, p1 - 9 Journal Article, 2013

van Rheenen W, Diekstra F.P, van Doormaal P.T.C, Seelen M, Kenna K, McLaughlin R, Shatunov A, Czell D, van Es M.A, van Vught P.W.J, van Damme P, Smith B.N, Waibel S, Schelhaas H.J, van der Kooi A.J, de Visser M, Weber M, Robberecht W, Hardiman O, Shaw P.J, Shaw C.E, Morrison K.E, Al-Chalabi A, Andersen P.M, Ludolph A.C, Veldink J.H, Van den Berg L.H, H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis, Neurobiology of Aging, 34, (5), 2013 Journal Article, 2013 DOI URL

Bede P1, Bokde AL, Byrne S, Elamin M, McLaughlin RL, Kenna K, Fagan AJ, Pender N, Bradley DG, Hardiman O., Multiparametric MRI study of ALS stratified for the C9orf72 genotype, Neurology, 81, (4), 2013, p361-369 Journal Article, 2013 TARA - Full Text DOI

P. Bede, A. Bokde, M. Elamin, S. Byrne, R.L. McLaughlin, N. Jordan, H. Hampel, L. Gallagher, C. Lynch, A.J. Fagan, N. Pender, O. Hardiman, Grey matter correlates of clinical variables in amyotrophic lateral sclerosis (ALS): a neuroimaging study of ALS motor phenotype heterogeneity and cortical focality, Journal of Neurology, Neurosurgery & Psychiatry, 84, (7), 2013, p766 - 773 Journal Article, 2013 DOI

Bede P, Bokde A, Elamin M, Byrne S, McLaughlin RL, Jordan N, Hampel H, Gallagher L, Lynch C, Fagan AJ, Pender N, Hardiman O, Grey matter correlates of clinical variables in amyotrophic lateral sclerosis (ALS): a neuroimaging study of ALS motor phenotype heterogeneity and cortical focality., Journal of neurology, neurosurgery, and psychiatry, 84, (7), 2012, p766-73 Journal Article, 2012 DOI

Byrne S, Elamin M, Bede P, Shatunov A, Walsh C, Corr B, Heverin M, Jordan N, Kenna K, Lynch C, McLaughlin RL, Iyer PM, O'Brien C, Phukan J, Wynne B, Bokde AL, Bradley DG, Pender N, Al-Chalabi A, Hardiman O, Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study., Lancet neurology, 11, (3), 2012, p232-40 Journal Article, 2012 DOI

Byrne S, Bede P, Elamin M, Kenna K, Lynch C, McLaughlin R, Hardiman O, Proposed criteria for familial amyotrophic lateral sclerosis., Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 12, (3), 2011, p157-9 Journal Article, 2011 DOI

Russell Lewis McLaughlin, Julie Phukan, William McCormack, David S. Lynch, Matthew Greenway, Simon Cronin, Jean Saunders, Agnieska Slowik, Barbara Tomik, Peter M. Andersen, Daniel G. Bradley, Phil Jakeman, Orla Hardiman, Angiogenin Levels and ANG Genotypes: Dysregulation in Amyotrophic Lateral Sclerosis, PloS ONE, 5, (11), 2010, pe15402 Journal Article, 2010 TARA - Full Text

Blauw H.M, Al-Chalabi A, Andersen P.M, van Vught P.W, Diekstra F.P, van Es M.A, Saris C.G, Groen E.J, van Rheenen W, Koppers M, Slot R.v, Strengman E, Estrada K, Rivadeneira F, Hofman A, Uitterlinden A.G, Kiemeney L.A, Vermeulen S.H, Birve A, Waibel S, Meyer T, Cronin S, McLaughlin R.L, Hardiman O, Sapp P.C, Tobin M.D, Wain L.V, Tomik B, Slowik A, Lemmens R, Rujescu D, Schulte C, Gasser T, Brown Jr. R.H, Landers J.E, Robberecht W, Ludolph A.C, Ophoff R.A, Veldink J.H, van den Berg L.H, A large genome scan for rare CNVs in amyotrophic lateral sclerosis, Human Molecular Genetics, 19, (20), 2010, p4091 - 4099 Journal Article, 2010 DOI URL

Van Es M.A, Veldink J.H, Saris C.G.J, Blauw H.M, Van Vught P.W.J, Birve A, Lemmens R, Schelhaas H.J, Groen E.J.N, Huisman M.H.B, Van Der Kooi A.J, De Visser M, Dahlberg C, Estrada K, Rivadeneira F, Hofman A, Zwarts M.J, Van Doormaal P.T.C, Rujescu D, Strengman E, Giegling I, Muglia P, Tomik B, Slowik A, Uitterlinden A.G, Hendrich C, Waibel S, Meyer T, Ludolph A.C, Glass J.D, Purcell S, Cichon S, Nöthen M.M, Wichmann H.-E, Schreiber S, Vermeulen S.H.H.M, Kiemeney L.A, Wokke J.H.J, Cronin S, McLaughlin R.L, Hardiman O, Fumoto K, Pasterkamp R.J, Meininger V, Melki J, Leigh P.N, Shaw C.E, Landers J.E, Al-Chalabi A, Brown R.H, Robberecht W, Andersen P.M, Ophoff R.A, Van Den Berg L.H, Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis, Nature Genetics, 41, (10), 2009, p1083 - 1087 Journal Article, 2009 DOI URL

Research Expertise


  • Title
    • Whole-genome sequencing of 1000 Irish ALS patients and controls to identify novel ALS genes and pathways
  • Summary
    • One of the main obstacles to the development of effective treatments for ALS, the most common form of motor neurone disease, is our incomplete understanding of its underlying causes. Many lines of evidence indicate that a substantial proportion of the causes stem from differences in the genetic code of ALS patients, yet only a small number of these differences - called mutations - have been identified. This project will examine, in exquisite detail, the entire genetic code (the genomes) of over 1,000 Irish individuals, 700 of whom have ALS, to identify mutations that cause the disease. By examining ALS patients' genomes in the relatively small Irish population we can reconstruct large family trees for ALS patients who were previously assumed to be unrelated. This makes possible the task of distinguishing disease-causing mutations from benign genetic variation. Examination of 1,000 Irish genomes will also allow us to investigate the effect of ancestry on risk of developing ALS. Are people of mixed ancestry (eg half English/half Irish, or Anglo-Saxon ancestry vs Celtic ancestry) less likely to develop ALS? Is the lower risk of ALS that we have observed in particular regions of Ireland a consequence of the ancestry of the individuals living there or is it a local environmental effect? With the data generated in this study, we will be able to answer these questions and shed light on the question of genetic vs environmental risk factors for developing ALS. Overall, our research will help to clarify the underlying biology of ALS and open new avenues of research for understanding the disease, developing effective therapies and improving diagnosis and management of motor neurone disease.
  • Funding Agency
    • MND Association (UK)
  • Date From
    • 01/01/2016
  • Date To
    • 31/12/2018
  • Title
    • Advancing research in neurodegenerative disease: genome analysis in amyotrophic lateral sclerosis
  • Funding Agency
    • Wellcome Trust
  • Date From
    • March 2017
  • Date To
    • March 2019
  • Title
    • TCD Opportunistic Funds
  • Funding Agency
    • Science Foundation Ireland
  • Date From
    • March 2017
  • Date To
    • March 2019
  • Title
    • Use of extended Irish kindreds to identify novel ALS variants
  • Funding Agency
    • Fondation Thierry Latran (France)
  • Date From
    • Sep 2013
  • Date To
    • Aug 2015
  • Title
    • Milton Safenowitz Postdoctoral Fellowship
  • Funding Agency
    • ALS Association (USA)
  • Date From
    • Aug 2013
  • Date To
    • July 2015


Awards and Honours

Best presentation award, 4th Frontiers in Neurology conference 2014

Best poster award, 10th Meeting of the European Network for the Cure of ALS 2012


Irish Society of Human Genetics 01/09/2016 – Ongoing

American Society of Human Genetics 01/11/2016 – Ongoing

European Network to Cure ALS 01/09/2008 – Ongoing

Project MinE Consortium 01/09/2014 – Ongoing