Dr. Russell Mc Laughlin

• 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, p237-241Journal Article, 2015, DOI
• 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, p361-369Journal Article, 2013, DOI , TARA - Full Text
• 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 - 3437Journal Article, 2015, DOI
• 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.e7-13Journal 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, p8912Journal Article, 2015, DOI , TARA - Full Text
• 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, DOI , URL , TARA - Full Text
• 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, p14774Journal Article, 2017, DOI , TARA - Full Text
• 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 - 1048Journal Article, 2016
• 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 - 1042Journal Article, 2016
• 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, p5257Journal Article, 2014
• 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), 2013Journal Article, 2013, DOI , URL
• Genetics of ALS in, Susanne A. Schneider, José M. Tomás Brás , Movement Disorder Genetics, Springer, 2015, pp385 - 410, [Russell McLaughlin]Book Chapter, 2015
• 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, p611-623Journal Article, 2017, DOI
• 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, p1425-1430Journal Article, 2017
• Nasseroleslami B, Dukic S, Broderick M, Mohr K, Schuster C, Gavin B, McLaughlin R, Heverin M, Vajda A, Iyer PM, Pender N, Bede P, Lalor EC, Hardiman O., Characteristic Increases in EEG Connectivity Correlate With Changes of Structural MRI in Amyotrophic Lateral Sclerosis., Cereb Cortex, 29, (1), 2019, p27 - 41Journal Article, 2019
• 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, pe1006852Journal Article, 2017, DOI , TARA - Full Text
• 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, pe1007152Journal Article, 2018, DOI , TARA - Full Text
• Bede P, Omer T, Finegan E, Chipika RH, Iyer PM, Doherty MA, Vajda A, Pender N, McLaughlin RL, Hutchinson S, Hardiman O., Connectivity-based characterisation of subcortical grey matter pathology in frontotemporal dementia and ALS: a multimodal neuroimaging study., Brain Imaging Behav, 2018, p1 - 19Journal Article, 2018, DOI , URL
• Finegan E, Chipika RH, Li Hi Shing S, Doherty MA, Hengeveld JC, Vajda A, Donaghy C, McLaughlin RL, Pender N, Hardiman O, Bede P, The clinical and radiological profile of primary lateral sclerosis: a population-based study., Journal of Neurology, 2019Journal Article, 2019
• Ryan, M. and Heverin, M. and Doherty, M.A. and Davis, N. and Corr, E.M. and Vajda, A. and Pender, N. and McLaughlin, R. and Hardiman, O., Determining the incidence of familiality in ALS, Neurology: Genetics, 4, (3), 2018Journal Article, 2018, DOI , URL , TARA - Full Text
• Tazelaar, G.H.P. and van Rheenen, W. and Pulit, S.L. and van der Spek, R.A.A. and Dekker, A.M. and Moisse, M. and McLaughlin, R.L. and Sproviero, W. and Kenna, K.P. and Kooyman, M. and van Doormaal, P.T.C. and van Eijk, K.E. and Middelkoop, B.M. and Schellevis, R.D. and Brands, W.J. and Al-Chalabi, A. and Morrison, K.E. and Shaw, P.J. and Shaw, C.E. and Newhouse, S.E. and van Es, M.A. and Basak, A.N. and Akçimen, F. and Kocoglu, C. and Tunca, C. and Povedano, M. and Mora, J.S. and Glass, J.D. and Van Damme, P. and Robberecht, W. and HardimanMD, O. and Landers, J.E. and van den Berg, L.H. and Veldink, J.H., CHCHD10 variants in amyotrophic lateral sclerosis: Where is the evidence?, Annals of Neurology, 84, (1), 2018, p110-116Journal Article, 2018, DOI , URL
• Finegan E, Li Hi Shing S, Chipika, RH, Doherty MA, Hengeveld JC, Vajda A, Donaghy C, Pender N, McLaughlin RL, Hardiman O, Bede P., Widespread subcortical grey matter degeneration in primary lateral sclerosis: a multimodal imaging study with genetic profiling., Neuroimage Clin., 2019Journal Article, 2019
• Byrne RP, van Rheenen W, Project MinE ALS GWAS Consortium, van den Berg LH, Veldink JH, McLaughlin RL, Dutch population structure across space, time and GWAS design, Nature Communications, 2020Journal Article, 2020, URL
• Chipika RH, Christidi F, Finegan E, Li Hi Shing S, McKenna MC, Chang KM, Karavasilis E, Doherty MA, Hengeveld JC, Vajda A, Pender N, Hutchinson S, Donaghy C, McLaughlin RL, Hardiman O, Bede P. , Amygdala pathology in amyotrophic lateral sclerosis and primary lateral sclerosis. , J Neurol Sci. , 2020Journal Article, 2020, DOI
• Al Khleifat, A. and Iacoangeli, A. and van Vugt, J.J.F.A. and Bowles, H. and Moisse, M. and Zwamborn, R.A.J. and van der Spek, R.A.A. and Shatunov, A. and Cooper-Knock, J. and Topp, S. and Byrne, R. and Gellera, C. and López, V. and Jones, A.R. and Opie-Martin, S. and Vural, A. and Campos, Y. and van Rheenen, W. and Kenna, B. and Van Eijk, K.R. and Kenna, K. and Weber, M. and Smith, B. and Fogh, I. and Silani, V. and Morrison, K.E. and Dobson, R. and van Es, M.A. and McLaughlin, R.L. and Vourc†h, P. and Chio, A. and Corcia, P. and de Carvalho, M. and Gotkine, M. and Panades, M.P. and Mora, J.S. and Shaw, P.J. and Landers, J.E. and Glass, J.D. and Shaw, C.E. and Basak, N. and Hardiman, O. and Robberecht, W. and Van Damme, P. and van den Berg, L.H. and Veldink, J.H. and Al-Chalabi, A., Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis, npj Genomic Medicine, 7, (1), 2022Journal Article, 2022, DOI , URL
• Hop, P.J. and Zwamborn, R.A.J. and Hannon, E. and Shireby, G.L. and Nabais, M.F. and Walker, E.M. and van Rheenen, W. and van Vugt, J.J.F.A. and Dekker, A.M. and Westeneng, H.-J. and Tazelaar, G.H.P. and van Eijk, K.R. and Moisse, M. and Baird, D. and Al Khleifat, A. and Iacoangeli, A. and Ticozzi, N. and Ratti, A. and Cooper-Knock, J. and Morrison, K.E. and Shaw, P.J. and Basak, A.N. and Chiò, A. and Calvo, A. and Moglia, C. and Canosa, A. and Brunetti, M. and Grassano, M. and Gotkine, M. and Lerner, Y. and Zabari, M. and Vourc'H, P. and Corcia, P. and Couratier, P. and Mora Pardina, J.S. and Salas, T. and Dion, P. and Ross, J.P. and Henderson, R.D. and Mathers, S. and McCombe, P.A. and Needham, M. and Nicholson, G. and Rowe, D.B. and Pamphlett, R. and Mather, K.A. and Sachdev, P.S. and Furlong, S. and Garton, F.C. and Henders, A.K. and Lin, T. and Ngo, S.T. and Steyn, F.J. and Wallace, L. and Williams, K.L. and Neto, M.M. and Cauchi, R.J. and Blair, I.P. and Kiernan, M.C. and Drory, V. and Povedano, M. and de Carvalho, M. and Pinto, S. and Weber, M. and Rouleau, G.A. and Silani, V. and Landers, J.E. and Shaw, C.E. and Andersen, P.M. and McRae, A.F. and van Es, M.A. and Pasterkamp, R.J. and Wray, N.R. and McLaughlin, R.L. and Hardiman, O. and Kenna, K.P. and Tsai, E. and Runz, H. and Al-Chalabi, A. and van den Berg, L.H. and Van Damme, P. and Mill, J. and Veldink, J.H. and Heijmans, B.T. and t Hoen, P.A.C. and van Meurs, J. and Jansen, R. and Franke, L. and Boomsma, D.I. and Pool, R. and van Dongen, J. and Hottenga, J.J. and van Greevenbroek, M.M.J. and Stehouwer, C.D.A. and van der Kallen, C.J.H. and Schalkwijk, C.G. and Wijmenga, C. and Zhernakova, S. and Tigchelaar, E.F. and Slagboom, P.E. and Beekman, M. and Deelen, J. and van Heemst, D. and van Duijn, C.M. and Hofman, B.A. and Isaacs, A. and Uitterlinden, A.G. and Jhamai, P.M. and Verbiest, M. and Suchiman, E.H.D. and Verkerk, M. and van der Breggen, R. and van Rooij, J. and Lakenberg, N. and Mei, H. and van Iterson, M. and van Galen, M. and Bot, J. and van 'T Hof, P. and Nooren, I. and Moed, M. and Vermaat, M. and Luijk, R. and Bonder, M.J. and van Dijk, F. and Arindrarto, W. and Kielbasa, S.M. and Swertz, M.A. and van Zwet, E.W. and Bensimon, G. and Smith, G.D., Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS, Science Translational Medicine, 14, (633), 2022Journal Article, 2022, DOI , URL
• van Rheenen, W. and van der Spek, R.A.A. and Bakker, M.K. and van Vugt, J.J.F.A. and Hop, P.J. and Zwamborn, R.A.J. and de Klein, N. and Westra, H.-J. and Bakker, O.B. and Deelen, P. and Shireby, G. and Hannon, E. and Moisse, M. and Baird, D. and Restuadi, R. and Dolzhenko, E. and Dekker, A.M. and Gawor, K. and Westeneng, H.-J. and Tazelaar, G.H.P. and van Eijk, K.R. and Kooyman, M. and Byrne, R.P. and Doherty, M. and Heverin, M. and Al Khleifat, A. and Iacoangeli, A. and Shatunov, A. and Ticozzi, N. and Cooper-Knock, J. and Smith, B.N. and Gromicho, M. and Chandran, S. and Pal, S. and Morrison, K.E. and Shaw, P.J. and Hardy, J. and Orrell, R.W. and Sendtner, M. and Meyer, T. and BaÅ ak, N. and van der Kooi, A.J. and Ratti, A. and Fogh, I. and Gellera, C. and Lauria, G. and Corti, S. and Cereda, C. and Sproviero, D. and D†Alfonso, S. and Sorarù, G. and Siciliano, G. and Filosto, M. and Padovani, A. and Chiò, A. and Calvo, A. and Moglia, C. and Brunetti, M. and Canosa, A. and Grassano, M. and Beghi, E. and Pupillo, E. and Logroscino, G. and Nefussy, B. and Osmanovic, A. and Nordin, A. and Lerner, Y. and Zabari, M. and Gotkine, M. and Baloh, R.H. and Bell, S. and Vourc†h, P. and Corcia, P. and Couratier, P. and Millecamps, S. and Meininger, V. and Salachas, F. and Mora Pardina, J.S. and Assialioui, A. and Rojas-García, R. and Dion, P.A. and Ross, J.P. and Ludolph, A.C. and Weishaupt, J.H. and Brenner, D. and Freischmidt, A. and Bensimon, G. and Brice, A. and Durr, A. and Payan, C.A.M. and Saker-Delye, S. and Wood, N.W. and Topp, S. and Rademakers, R. and Tittmann, L. and Lieb, W. and Franke, A. and Ripke, S. and Braun, A. and Kraft, J. and Whiteman, D.C. and Olsen, C.M. and Uitterlinden, A.G. and Hofman, A. and Rietschel, M. and Cichon, S. and Nöthen, M.M. and Amouyel, P. and Comi, G. and Riva, N. and Lunetta, C. and Gerardi, F. and Cotelli, M.S. and Rinaldi, F. and Chiveri, L. and Guaita, M.C. and Perrone, P. and Ceroni, M. and Diamanti, L. and Ferrarese, C. and Tremolizzo, L. and Delodovici, M.L. and Bono, G. and Canosa, A. and Manera, U. and Vasta, R. and Bombaci, A. and Casale, F. and Fuda, G. and Salamone, P. and Iazzolino, B. and Peotta, L. and Cugnasco, P. and De Marco, G. and Torrieri, M.C. and Palumbo, F. and Gallone, S. and Barberis, M. and Sbaiz, L. and Gentile, S. and Mauro, A. and Mazzini, L. and De Marchi, F. and Corrado, L. and D†Alfonso, S. and Bertolotto, A. and Gionco, M. and Leotta, D. and Odddenino, E. and Imperiale, D. and Cavallo, R. and Pignatta, P. and De Mattei, M. and Geda, C. and Papurello, D.M. and Gusmaroli, G. and Comi, C. and Labate, C. and Ruiz, L. and Ferrandi, D. and Rota, E. and Aguggia, M. and Di Vito, N. and Meineri, P. and Ghiglione, P. and Launaro, N. and Dotta, M. and Di Sapio, A. and Giardini, G. and Tiloca, C. and Peverelli, S. and Taroni, F. and Pensato, V. and Castellotti, B. and Comi, G.P. and Del Bo, R. and Ceroni, M. and Gagliardi, S. and Corrado, L. and Mazzini, L. and Raggi, F. and Simoncini, C. and Lo Gerfo, A. and Inghilleri, M. and Ferlini, A. and Simone, I.L. and Passarella, B. and Guerra, V. and Zoccolella, S. and Nozzoli, C. and Mundi, C. and Leone, M. and Zarrelli, M. and Tamma, F. and Valluzzi, F. and Calabrese, G. and Boero, G. and Rini, A. and Traynor, B.J. and Singleton, A.B. and Mitne Neto, M. and Cauchi, R.J. and Ophoff, R.A. and Wiedau-Pazos, M. and Lomen-Hoerth, C. and van Deerlin, V.M. and Grosskreutz, J. and Roediger, A. and Gaur, N. and Jörk, A. and Barthel, T. and Theele, E. and Ilse, B. and S, Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (Nature Genetics, (2021), 53, 12, (1636-1648), 10.1038/s41588-021-00973-1), Nature Genetics, 2022Journal Article, 2022, DOI , URL
• van Rheenen, W. and van der Spek, R.A.A. and Bakker, M.K. and van Vugt, J.J.F.A. and Hop, P.J. and Zwamborn, R.A.J. and de Klein, N. and Westra, H.-J. and Bakker, O.B. and Deelen, P. and Shireby, G. and Hannon, E. and Moisse, M. and Baird, D. and Restuadi, R. and Dolzhenko, E. and Dekker, A.M. and Gawor, K. and Westeneng, H.-J. and Tazelaar, G.H.P. and van Eijk, K.R. and Kooyman, M. and Byrne, R.P. and Doherty, M. and Heverin, M. and Al Khleifat, A. and Iacoangeli, A. and Shatunov, A. and Ticozzi, N. and Cooper-Knock, J. and Smith, B.N. and Gromicho, M. and Chandran, S. and Pal, S. and Morrison, K.E. and Shaw, P.J. and Hardy, J. and Orrell, R.W. and Sendtner, M. and Meyer, T. and BaÅ ak, N. and van der Kooi, A.J. and Ratti, A. and Fogh, I. and Gellera, C. and Lauria, G. and Corti, S. and Cereda, C. and Sproviero, D. and D'Alfonso, S. and Sorarù, G. and Siciliano, G. and Filosto, M. and Padovani, A. and Chiò, A. and Calvo, A. and Moglia, C. and Brunetti, M. and Canosa, A. and Grassano, M. and Beghi, E. and Pupillo, E. and Logroscino, G. and Nefussy, B. and Osmanovic, A. and Nordin, A. and Lerner, Y. and Zabari, M. and Gotkine, M. and Baloh, R.H. and Bell, S. and Vourc'h, P. and Corcia, P. and Couratier, P. and Millecamps, S. and Meininger, V. and Salachas, F. and Mora Pardina, J.S. and Assialioui, A. and Rojas-García, R. and Dion, P.A. and Ross, J.P. and Ludolph, A.C. and Weishaupt, J.H. and Brenner, D. and Freischmidt, A. and Bensimon, G. and Brice, A. and Durr, A. and Payan, C.A.M. and Saker-Delye, S. and Wood, N.W. and Topp, S. and Rademakers, R. and Tittmann, L. and Lieb, W. and Franke, A. and Ripke, S. and Braun, A. and Kraft, J. and Whiteman, D.C. and Olsen, C.M. and Uitterlinden, A.G. and Hofman, A. and Rietschel, M. and Cichon, S. and Nöthen, M.M. and Amouyel, P. and Traynor, B.J. and Singleton, A.B. and Mitne Neto, M. and Cauchi, R.J. and Ophoff, R.A. and Wiedau-Pazos, M. and Lomen-Hoerth, C. and van Deerlin, V.M. and Grosskreutz, J. and Roediger, A. and Gaur, N. and Jörk, A. and Barthel, T. and Theele, E. and Ilse, B. and Stubendorff, B. and Witte, O.W. and Steinbach, R. and HÃŒbner, C.A. and Graff, C. and Brylev, L. and Fominykh, V. and Demeshonok, V. and Ataulina, A. and Rogelj, B. and Koritnik, B. and Zidar, J. and Ravnik-GlavaÄ , M. and GlavaÄ , D. and SteviÄ , Z. and Drory, V. and Povedano, M. and Blair, I.P. and Kiernan, M.C. and Benyamin, B. and Henderson, R.D. and Furlong, S. and Mathers, S. and McCombe, P.A. and Needham, M. and Ngo, S.T. and Nicholson, G.A. and Pamphlett, R. and Rowe, D.B. and Steyn, F.J. and Williams, K.L. and Mather, K.A. and Sachdev, P.S. and Henders, A.K. and Wallace, L. and de Carvalho, M. and Pinto, S. and Petri, S. and Weber, M. and Rouleau, G.A. and Silani, V. and Curtis, C.J. and Breen, G. and Glass, J.D. and Brown, R.H. and Landers, J.E. and Shaw, C.E. and Andersen, P.M. and Groen, E.J.N. and van Es, M.A. and Pasterkamp, R.J. and Fan, D. and Garton, F.C. and McRae, A.F. and Davey Smith, G. and Gaunt, T.R. and Eberle, M.A. and Mill, J. and McLaughlin, R.L. and Hardiman, O. and Kenna, K.P. and Wray, N.R. and Tsai, E. and Runz, H. and Franke, L. and Al-Chalabi, A. and Van Damme, P. and van den Berg, L.H. and Veldink, J.H., Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology, Nature genetics, 53, (12), 2021, p1636-1648Journal Article, 2021, DOI , URL
• Johnson, J.O. and Chia, R. and Miller, D.E. and Li, R. and Kumaran, R. and Abramzon, Y. and Alahmady, N. and Renton, A.E. and Topp, S.D. and Gibbs, J.R. and Cookson, M.R. and Sabir, M.S. and Dalgard, C.L. and Troakes, C. and Jones, A.R. and Shatunov, A. and Iacoangeli, A. and Al Khleifat, A. and Ticozzi, N. and Silani, V. and Gellera, C. and Blair, I.P. and Dobson-Stone, C. and Kwok, J.B. and Bonkowski, E.S. and Palvadeau, R. and Tienari, P.J. and Morrison, K.E. and Shaw, P.J. and Al-Chalabi, A. and Brown, R.H. and Calvo, A. and Mora, G. and Al-Saif, H. and Gotkine, M. and Leigh, F. and Chang, I.J. and Perlman, S.J. and Glass, I. and Scott, A.I. and Shaw, C.E. and Basak, A.N. and Landers, J.E. and Chiò, A. and Crawford, T.O. and Smith, B.N. and Traynor, B.J. and Smith, B.N. and Ticozzi, N. and Fallini, C. and Gkazi, A.S. and Topp, S.D. and Scotter, E.L. and Kenna, K.P. and Keagle, P. and Tiloca, C. and Vance, C. and Troakes, C. and Colombrita, C. and King, A. and Pensato, V. and Castellotti, B. and Baas, F. and Ten Asbroek, A.L.M.A. and McKenna-Yasek, D. and McLaughlin, R.L. and Polak, M. and Asress, S. and Esteban-Pérez, J. and Stevic, Z. and D'Alfonso, S. and Mazzini, L. and Comi, G.P. and Del Bo, R. and Ceroni, M. and Gagliardi, S. and Querin, G. and Bertolin, C. and Van Rheenen, W. and Rademakers, R. and Van Blitterswijk, M. and Lauria, G. and Duga, S. and Corti, S. and Cereda, C. and Corrado, L. and Sorarù, G. and Williams, K.L. and Nicholson, G.A. and Blair, I.P. and Leblond-Manry, C. and Rouleau, G.A. and Hardiman, O. and Morrison, K.E. and Veldink, J.H. and Van Den Berg, L.H. and Al-Chalabi, A. and Pall, H. and Shaw, P.J. and Turner, M.R. and Talbot, K. and Taroni, F. and García-Redondo, A. and Wu, Z. and Glass, J.D. and Gellera, C. and Ratti, A. and Brown, R.H. and Silani, V. and Shaw, C.E. and Landers, J.E. and Dalgard, C.L. and Adeleye, A. and Soltis, A.R. and Alba, C. and Viollet, C. and Bacikova, D. and Hupalo, D.N. and Sukumar, G. and Pollard, H.B. and Wilkerson, M.D. and Martinez, E.M. and Abramzon, Y. and Ahmed, S. and Arepalli, S. and Baloh, R.H. and Bowser, R. and Brady, C.B. and Brice, A. and Broach, J. and Campbell, R.H. and Camu, W. and Cooper-Knock, J. and Ding, J. and Drepper, C. and Drory, V.E. and Dunckley, T.L. and Eicher, J.D. and England, B.K. and Faghri, F. and Feldman, E. and Floeter, M.K. and Fratta, P. and Geiger, J.T. and Gerhard, G. and Gibbs, J.R. and Gibson, S.B. and Glass, J.D. and Hardy, J. and Harms, M.B. and Heiman-Patterson, T.D. and Hernandez, D.G. and Jansson, L. and Kirby, J. and Kowall, N.W. and Laaksovirta, H. and Landeck, N. and Landi, F. and Le Ber, I. and Lumbroso, S. and Macgowan, D.J.L. and Maragakis, N.J. and Mouzat, K. and Murphy, N.A. and Myllykangas, L. and Nalls, M.A. and Orrell, R.W. and Ostrow, L.W. and Pamphlett, R. and Pickering-Brown, S. and Pioro, E.P. and Pletnikova, O. and Pliner, H.A. and Pulst, S.M. and Ravits, J.M. and Renton, A.E. and Rivera, A. and Robberecht, W. and Rogaeva, E. and Rollinson, S. and Rothstein, J.D. and Scholz, S.W. and Sendtner, M. and Shaw, P.J. and Sidle, K.C. and Simmons, Z. and Singleton, A.B. and Smith, N. and Stone, D.J. and Tienari, P.J. and Troncoso, J.C. and Valori, M. and Van Damme, P. and Van Deerlin, V.M. and Van Den Bosch, L. and Zinman, L. and Landers, J.E. and Chiò, A. and Traynor, B.J. and Angelocola, S.M. and Ausiello, F.P. and Barberis, M. and Bartolomei, I. and Battistini, S. and Bersano, E. and Bisogni, G. and Borghero, G. and Brunetti, M. and Cabona, C. and C, Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis, JAMA Neurology, 78, (10), 2021, p1236-1248Journal Article, 2021, DOI , URL
• McLaughlin, R.L., REscan: Inferring repeat expansions and structural variation in paired-end short read sequencing data, Bioinformatics, 37, (6), 2021, p871-872Journal Article, 2021, DOI , URL
• Dewan, R. and Chia, R. and Ding, J. and Hickman, R.A. and Stein, T.D. and Abramzon, Y. and Ahmed, S. and Sabir, M.S. and Portley, M.K. and Tucci, A. and Ibáñez, K. and Shankaracharya, F.N.U. and Keagle, P. and Rossi, G. and Caroppo, P. and Tagliavini, F. and Waldo, M.L. and Johansson, P.M. and Nilsson, C.F. and Adeleye, A. and Alba, C. and Bacikova, D. and Hupalo, D.N. and Martinez, E.M. and Pollard, H.B. and Sukumar, G. and Soltis, A.R. and Tuck, M. and Zhang, X. and Wilkerson, M.D. and Smith, B.N. and Ticozzi, N. and Fallini, C. and Gkazi, A.S. and Topp, S.D. and Kost, J. and Scotter, E.L. and Kenna, K.P. and Miller, J.W. and Tiloca, C. and Vance, C. and Danielson, E.W. and Troakes, C. and Colombrita, C. and Al-Sarraj, S. and Lewis, E.A. and King, A. and Calini, D. and Pensato, V. and Castellotti, B. and de Belleroche, J. and Baas, F. and ten Asbroek, A.L.M.A. and Sapp, P.C. and McKenna-Yasek, D. and McLaughlin, R.L. and Polak, M. and Asress, S. and Esteban-Pérez, J. and Muñoz-Blanco, J.L. and Stevic, Z. and D'Alfonso, S. and Mazzini, L. and Comi, G.P. and Del Bo, R. and Ceroni, M. and Gagliardi, S. and Querin, G. and Bertolin, C. and van Rheenen, W. and Diekstra, F.P. and Rademakers, R. and van Blitterswijk, M. and Boylan, K.B. and Lauria, G. and Duga, S. and Corti, S. and Cereda, C. and Corrado, L. and Sorarù, G. and Williams, K.L. and Nicholson, G.A. and Blair, I.P. and Leblond-Manry, C. and Rouleau, G.A. and Hardiman, O. and Morrison, K.E. and Veldink, J.H. and van den Berg, L.H. and Al-Chalabi, A. and Pall, H. and Shaw, P.J. and Turner, M.R. and Talbot, K. and Taroni, F. and García-Redondo, A. and Wu, Z. and Gellera, C. and Ratti, A. and Brown, R.H. and Shaw, C.E. and Ambrose, J.C. and Arumugam, P. and Baple, E.L. and Bleda, M. and Boardman-Pretty, F. and Boissiere, J.M. and Boustred, C.R. and Brittain, H. and Caulfield, M.J. and Chan, G.C. and Craig, C.E.H. and Daugherty, L.C. and de Burca, A. and Devereau, A. and Elgar, G. and Foulger, R.E. and Fowler, T. and Furió-Tarí, P. and Hackett, J.M. and Halai, D. and Hamblin, A. and Henderson, S. and Holman, J.E. and Hubbard, T.J.P. and Jackson, R. and Jones, L.J. and Kasperaviciute, D. and Kayikci, M. and Lahnstein, L. and Lawson, K. and Leigh, S.E.A. and Leong, I.U.S. and Lopez, J.F. and Maleady-Crowe, F. and Mason, J. and McDonagh, E.M. and Moutsianas, L. and Mueller, M. and Murugaesu, N. and Need, A.C. and Odhams, C.A. and Patch, C. and Perez-Gil, D. and Polychronopoulos, D. and Pullinger, J. and Rahim, T. and Rendon, A. and Riesgo-Ferreiro, P. and Rogers, T. and Savage, K. and Sawant, K. and Scott, R.H. and Siddiq, A. and Sieghart, A. and Smedley, D. and Smith, K.R. and Sosinsky, A. and Spooner, W. and Stevens, H.E. and Stuckey, A. and Sultana, R. and Thomas, E.R.A. and Thompson, S.R. and Tregidgo, C. and Walsh, E. and Watters, S.A. and Welland, M.J. and Williams, E. and Witkowska, K. and Wood, S.M. and Zarowiecki, M. and Arepalli, S. and Auluck, P. and Baloh, R.H. and Bowser, R. and Brice, A. and Broach, J. and Camu, W. and Chiò, A. and Cooper-Knock, J. and Corcia, P. and Drepper, C. and Drory, V.E. and Dunckley, T.L. and Faghri, F. and Farren, J. and Feldman, E. and Floeter, M.K. and Fratta, P. and Gerhard, G. and Gibson, S.B. and Goutman, S.A. and Heiman-Patterson, T.D. and Hernandez, D.G. and Hoover, B. and Jansson, L. and Kamel, F. and Kirby, J. and Kowall, N.W. and Laaksovirta, H. and Landi, F. and Le Ber, I. and Lumbroso, S. and MacGowan, D.J. and Maragakis, N.J. and Mora, G. and Mouzat, K. and , Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis, Neuron, 109, (3), 2021, p448-460.e4Journal Article, 2021, DOI , URL
• Hop, P.J. and Zwamborn, R.A.J. and Hannon, E.J. and Dekker, A.M. and van Eijk, K.R. and Walker, E.M. and Iacoangeli, A. and Jones, A.R. and Shatunov, A. and Khleifat, A.A. and Opie-Martin, S. and Shaw, C.E. and Morrison, K.E. and Shaw, P.J. and McLaughlin, R.L. and Hardiman, O. and Al-Chalabi, A. and van Den Berg, L.H. and Mill, J. and Veldink, J.H., Cross-reactive probes on Illumina DNA methylation arrays: A large study on ALS shows that a cautionary approach is warranted in interpreting epigenome-wide association studies, NAR Genomics and Bioinformatics, 2, (4), 2020Journal Article, 2020, DOI , URL
• Cooper-Knock, J. and Zhang, S. and Kenna, K.P. and Moll, T. and Franklin, J.P. and Allen, S. and Nezhad, H.G. and Iacoangeli, A. and Yacovzada, N.Y. and Eitan, C. and Hornstein, E. and Ehilak, E. and Celadova, P. and Bose, D. and Farhan, S. and Fishilevich, S. and Lancet, D. and Morrison, K.E. and Shaw, C.E. and Al-Chalabi, A. and Blair, I. and Wray, N. and Kiernan, M. and Neto, M.M. and Chio, A. and Cauchi, R. and Robberecht, W. and van Damme, P. and Corcia, P. and Couratier, P. and Hardiman, O. and McLaughlin, R. and Gotkine, M. and Drory, V. and Ticozzi, N. and Silani, V. and Veldink, J. and van den Berg, L. and de Carvalho, M. and Pardina, J.M. and Povedano, M. and Andersen, P. and Wber, M. and BaÅ ak, N. and Shaw, C. and Shaw, P. and Morrison, K. and Landers, J. and Glass, J. and Veldink, J.H. and Kirby, J. and Snyder, M.P. and Shaw, P.J., Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene, Cell Reports, 33, (9), 2020Journal Article, 2020, DOI , URL
• Olszewska, D.A. and McCarthy, A. and Soto-Beasley, A.I. and Walton, R.L. and Magennis, B. and McLaughlin, R.L. and Hardiman, O. and Ross, O.A. and Lynch, T., Association Between Glucocerebrosidase Mutations and Parkinson's Disease in Ireland, Frontiers in Neurology, 11, (527), 2020Journal Article, 2020, DOI , URL
• Chipika, R.H. and Finegan, E. and Li Hi Shing, S. and McKenna, M.C. and Christidi, F. and Chang, K.M. and Doherty, M.A. and Hengeveld, J.C. and Vajda, A. and Pender, N. and Hutchinson, S. and Donaghy, C. and McLaughlin, R.L. and Hardiman, O. and Bede, P., †Switchboard†malfunction in motor neuron diseases: Selective pathology of thalamic nuclei in amyotrophic lateral sclerosis and primary lateral sclerosis, NeuroImage: Clinical, 27, (102300), 2020Journal Article, 2020, DOI , URL
• Tazelaar, G.H.P. and Boeynaems, S. and De Decker, M. and Van Vugt, J.J.F.A. and Kool, L. and Goedee, H.S. and Mclaughlin, R.L. and Sproviero, W. and Iacoangeli, A. and Moisse, M. and Jacquemyn, M. and Daelemans, D. and Dekker, A.M. and Van Der Spek, R.A. and Westeneng, H.-J. and Kenna, K.P. and Assialioui, A. and Da Silva, N. and Povedano, M. and Pardina, J.S.M. and Hardiman, O. and Salachas, F. and Millecamps, S. and Vourc'h, P. and Corcia, P. and Couratier, P. and Morrison, K.E. and Shaw, P.J. and Shaw, C.E. and Pasterkamp, R.J. and Landers, J.E. and Van Den Bosch, L. and Robberecht, W. and Al-Chalabi, A. and Van Den Berg, L.H. and Van Damme, P. and Veldink, J.H. and Van Es, M.A., ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization, Brain Communications, 2, (2), 2020Journal Article, 2020, DOI , URL
• Al Khleifat, A. and Iacoangeli, A. and Jones, A.R. and van Vugt, J.J.F.A. and Moisse, M. and Shatunov, A. and Zwamborn, R.A.J. and van der Spek, R.A.A. and Cooper-Knock, J. and Topp, S. and van Rheenen, W. and Kenna, B. and Van Eijk, K.R. and Kenna, K. and Byrne, R. and López, V. and Opie-Martin, S. and Vural, A. and Campos, Y. and Weber, M. and Smith, B. and Fogh, I. and Silani, V. and Morrison, K.E. and Dobson, R. and van Es, M.A. and McLaughlin, R.L. and Vourc†h, P. and Chio, A. and Corcia, P. and de Carvalho, M. and Gotkine, M. and Panades, M.P. and Mora, J.S. and Shaw, P.J. and Landers, J.E. and Glass, J.D. and Shaw, C.E. and Basak, N. and Hardiman, O. and Robberecht, W. and Van Damme, P. and van den Berg, L.H. and Veldink, J.H. and Al-Chalabi, A., Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data, Frontiers in Cellular Neuroscience, 16, (1050596), 2022Journal Article, 2022, DOI , URL
• Opie-Martin, S. and Iacoangeli, A. and Topp, S.D. and Abel, O. and Mayl, K. and Mehta, P.R. and Shatunov, A. and Fogh, I. and Bowles, H. and Limbachiya, N. and Spargo, T.P. and Al-Khleifat, A. and Williams, K.L. and Jockel-Balsarotti, J. and Bali, T. and Self, W. and Henden, L. and Nicholson, G.A. and Ticozzi, N. and McKenna-Yasek, D. and Tang, L. and Shaw, P.J. and Chio, A. and Ludolph, A. and Weishaupt, J.H. and Landers, J.E. and Glass, J.D. and Mora, J.S. and Robberecht, W. and Damme, P.V. and McLaughlin, R. and Hardiman, O. and van den Berg, L. and Veldink, J.H. and Corcia, P. and Stevic, Z. and Siddique, N. and Silani, V. and Blair, I.P. and Fan, D.-S. and Esselin, F. and de la Cruz, E. and Camu, W. and Basak, N.A. and Siddique, T. and Miller, T. and Brown, R.H. and Al-Chalabi, A. and Shaw, C.E., The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration, Nature Communications, 13, (1), 2022Journal Article, 2022, DOI , URL
• Opie-Martin, S. and Iacoangeli, A. and Topp, S.D. and Abel, O. and Mayl, K. and Mehta, P.R. and Shatunov, A. and Fogh, I. and Bowles, H. and Limbachiya, N. and Spargo, T.P. and Al-Khleifat, A. and Williams, K.L. and Jockel-Balsarotti, J. and Bali, T. and Self, W. and Henden, L. and Nicholson, G.A. and Ticozzi, N. and McKenna-Yasek, D. and Tang, L. and Shaw, P.J. and Chio, A. and Ludolph, A. and Weishaupt, J.H. and Landers, J.E. and Glass, J.D. and Mora, J.S. and Robberecht, W. and Damme, P.V. and McLaughlin, R. and Hardiman, O. and van den Berg, L. and Veldink, J.H. and Corcia, P. and Stevic, Z. and Siddique, N. and Silani, V. and Blair, I.P. and Fan, D.-S. and Esselin, F. and de la Cruz, E. and Camu, W. and Basak, N.A. and Siddique, T. and Miller, T. and Brown, R.H. and Al-Chalabi, A. and Shaw, C.E., Correction to: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration (Nature Communications, (2022), 13, 1, (6901), 10.1038/s41467-022-34620-y), Nature Communications, 15, (1), 2024Journal Article, 2024, DOI , URL
• Bagnasco, G. and Marzullo, M. and Cattaneo, C. and Biehler-Gomez, L. and Mazzarelli, D. and Ricciardi, V. and MÃŒller, W. and Coppa, A. and McLaughlin, R. and Motta, L. and Prato, O. and Schmidt, F. and Gaveriaux, F. and Marras, G.B. and Millet, M.A. and Madgwick, R. and Ballantyne, R. and Makarewicz, C.A. and Trentacoste, A. and Reimer, P. and Mattiangeli, V. and Bradley, D.G. and Malone, C. and Esposito, C. and Breslin, E.M. and Stoddart, S., Bioarchaeology aids the cultural understanding of six characters in search of their agency (Tarquinia, ninthâ€"seventh century BC, central Italy), Scientific Reports, 14, (1), 2024Journal Article, 2024, DOI , URL
• Kelly, C.M. and McLaughlin, R.L., Comparison of machine learning methods for genomic prediction of selected Arabidopsis thaliana traits, PLoS ONE, 19, (8), 2024Journal Article, 2024, DOI , URL
• Christidi, F. and Kleinerova, J. and Tan, E.L. and Delaney, S. and Tacheva, A. and Hengeveld, J.C. and Doherty, M.A. and McLaughlin, R.L. and Hardiman, O. and Siah, W.F. and Chang, K.M. and Lope, J. and Bede, P., Limbic Network and Papez Circuit Involvement in ALS: Imaging and Clinical Profiles in GGGGCC Hexanucleotide Carriers in C9orf72 and C9orf72-Negative Patients, Biology, 13, (7), 2024Journal Article, 2024, DOI , URL
• Marriott, H. and Spargo, T.P. and Al Khleifat, A. and Andersen, P.M. and BaÅ ak, N.A. and Cooper-Knock, J. and Corcia, P. and Couratier, P. and de Carvalho, M. and Drory, V. and Gotkine, M. and Landers, J.E. and McLaughlin, R. and Pardina, J.S.M. and Morrison, K.E. and Pinto, S. and Shaw, C.E. and Shaw, P.J. and Silani, V. and Ticozzi, N. and van Damme, P. and van den Berg, L.H. and Vourc'h, P. and Weber, M. and Veldink, J.H. and Al Khleifat, A. and Al-Chalabi, A. and Andersen, P.M. and BaÅ ak, N.A. and Cooper-Knock, J. and Corcia, P. and Couratier, P. and de Carvalho, M. and Drory, V. and Glass, J.D. and Hardiman, O. and Iacoangeli, A. and Landers, J.E. and McLaughlin, R. and Pardina, J.S.M. and Morrison, K.E. and Pinto, S. and Povedano, M. and Shaw, C.E. and Shaw, P.J. and van Damme, P. and van den Berg, L.H. and Ticozzi, N. and Weber, M. and Veldink, J.H. and Dobson, R.J. and Schwab, P. and Al-Chalabi, A. and Iacoangeli, A., Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS, Annals of Clinical and Translational Neurology, 11, (7), 2024, p1775-1786Journal Article, 2024, DOI , URL
• Tazelaar, G.H.P. and Hop, P.J. and Seelen, M. and van Vugt, J.J.F.A. and van Rheenen, W. and Kool, L. and van Eijk, K.R. and Gijzen, M. and Dooijes, D. and Moisse, M. and Calvo, A. and Moglia, C. and Brunetti, M. and Canosa, A. and Nordin, A. and Pardina, J.S.M. and Ravits, J. and Al-Chalabi, A. and Chio, A. and McLaughlin, R.L. and Hardiman, O. and Van Damme, P. and de Carvalho, M. and Neuwirth, C. and Weber, M. and Andersen, P.M. and van den Berg, L.H. and Veldink, J.H. and van Es, M.A., Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis, Neurobiology of Aging, 122, 2023, p76-87Journal Article, 2023, DOI , URL
• Costello, E. and Ryan, M. and Donohoe, B. and Kavanagh, C. and Pinto-Grau, M. and Doherty, M. and McLaughlin, R.L. and McHutchison, C. and Abrahams, S. and Heverin, M. and Hardiman, O. and Pender, N., Cognitive and neuropsychiatric endophenotypes in amyotrophic lateral sclerosis, Brain Communications, 5, (3), 2023Journal Article, 2023, DOI , URL
• Adey, B.N. and Cooper-Knock, J. and Al Khleifat, A. and Fogh, I. and van Damme, P. and Corcia, P. and Couratier, P. and Hardiman, O. and McLaughlin, R. and Gotkine, M. and Drory, V. and Silani, V. and Ticozzi, N. and Veldink, J.H. and van den Berg, L.H. and de Carvalho, M. and Pinto, S. and Mora Pardina, J.S. and Povedano Panades, M. and Andersen, P.M. and Weber, M. and BaÅ ak, N.A. and Shaw, C.E. and Shaw, P.J. and Morrison, K.E. and Landers, J.E. and Glass, J.D. and Vourc†h, P. and Dobson, R.J.B. and Breen, G. and Al-Chalabi, A. and Jones, A.R. and Iacoangeli, A., Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival, Frontiers in Cellular Neuroscience, 17, (1112405), 2023Journal Article, 2023, DOI , URL
• 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, pe15402Journal Article, 2010, DOI , URL , TARA - Full Text
• 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, p232-40Journal Article, 2012, 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 - 773Journal 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, p766-73Journal Article, 2012, 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.e5Journal Article, 2014, DOI , TARA - Full Text
• 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.e9-11Journal Article, 2014, 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, p836-841Journal Article, 2013, DOI

• Title

  Milton Safenowitz Postdoctoral Fellowship
  Summary
  Funding Agency

  ALS Association (USA)
  Date From

  Aug 2013
  Date To

  July 2015
• 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

  TCD Opportunistic Funds
  Summary
  Funding Agency

  Science Foundation Ireland
  Date From

  March 2017
  Date To

  March 2019
• Title

  Detecting the dark matter of neurodegeneration: repeat expansions in amyotrophic lateral sclerosis
  Summary

  Amyotrophic lateral sclerosis (ALS) is an incurable, rapidly fatal neurodegenerative disease characterised by loss of upper and lower motor neurones (the nerve cells that control movement) resulting in progressive paralysis and death from respiratory failure. Although it is clear that genetic risk factors play a role in the underlying causes of the disease, currently only around 10-15% of ALS cases can be explained by established causative genes. For effective treatments to be developed in ALS, there is urgent need to understand its central pathophysiology. This begins with establishing all of the underlying genetic causes of ALS. The most significant causative gene identified in ALS to date is C9orf72. In this gene, an unconventional genetic mutation known as a repeat expansion (RE) initiates a cellular process called RAN translation, leading to toxic accumulation of junk protein and subsequent neurodegeneration. Although this is currently poorly understood, several lines of evidence strongly implicate RAN translation as a central disease process in ALS and REs may therefore be the most important class of mutation in the disease. However, this hypothesis has remained unexplored due to technological constraints; REs have traditionally been extremely difficult to discover using established techniques. Exploiting recent advances in genomic science and technology that address many of the limitations of previous methods, this study will apply a suite of emerging methodologies to discover novel REs in ALS to elucidate the central disease mechanisms underlying neurodegeneration. The project will follow three principal strands. The first uses data generated in Project MinE, a consortium-based ALS genome sequencing project currently underway in the applicant's laboratory (in collaboration with Professor Orla Hardiman) which is generating short-read whole-genome sequencing data for 700 Irish ALS individuals and 350 control subjects. Using a novel software method developed by the Applicant that can identify the locations of likely REs (and accurately predict C9orf72 mutation status), the locations of novel REs elsewhere in the genome will be pinpointed and examined using wet-lab validation techniques to verify their involvement in ALS. The second approach will be to characterise REs known to cause other neurodegenerative diseases such as spinocerebellar ataxias (SCAs) in ALS cases. Although most of these genes have not been extensively studied in ALS, such an investigation is justified, as intermediate-length REs in the SCA2 gene ATXN2 are known to be associated with ALS, thus providing rationale to explore other SCA genes in ALS. The final method will be to use cutting-edge third-generation sequencing technologies (eg Oxford Nanopore), which sequence very long DNA molecules, to identify novel REs in ALS. This represents the state-of-the-art in genome sequencing technology and is a rapidly evolving field. This strand of the project would be an early and ground-breaking adoption of such technology for the exploration of the genetic causes of neurodegeneration.
  Funding Agency

  Science Foundation Ireland
  Date From

  2018-01-01
  Date To

  2021-12-31
• Title

  Use of extended Irish kindreds to identify novel ALS variants
  Summary
  Funding Agency

  Fondation Thierry Latran (France)
  Date From

  Sep 2013
  Date To

  Aug 2015
• Title

  The genetic pleiotropy of neurodegenerative mutations
  Summary

  Most neurological diseases have complex genetic origins, involving contributions from common and rare genetic variants via mono-, oligo- and polygenic mechanisms. Over the past decade, our understanding of these genetic origins has steadily improved through mega-scale genome-wide association studies (GWAS) and whole-genome/whole-exome sequencing (WGS/WES) projects, yielding an increasingly clear blueprint of the genetic architectures of these conditions and heralding fresh biological understanding and potential therapeutic avenues. These genetic insights have also revealed hitherto unrecognised relationships between clinically disparate conditions, including our biologically intriguing observation of genetic correlation between the neurodegenerative disease amyotrophic lateral sclerosis (ALS) and schizophrenia2. Much remains to be discovered in the genetic mechanisms underpinning most neurological diseases; to this end, this genetic pleiotropy - multiple traits resulting from the same genetic variant(s) - can be harnessed to fast-track the discovery of novel genetic mechanisms by leveraging established knowledge from one trait in another. The proposed project will leverage expertise in Dr McLaughlin's group to investigate the role of established causes of neurodegeneration in a range of neurological diseases. Current work in Dr McLaughlin's laboratory is delineating the contribution of a unique type of genetic variant called a repeat expansion to ALS pathogenesis; the proposed work will exploit techniques developed in this work to expand the diseases of interest to epilepsies and encephalopathies. Dr McLaughlin has generated WGS data for over 700 Irish ALS cases and controls; this will be supplemented with WGS data for up to 50-100 encephalopathy parent-offspring trios (in collaboration with FutureNeuro PI Gianpiero Cavalleri) for the discovery of potential novel disease-causing repeat expansions. In addition, we will also explore the role of established repeat expansions (including the ALS-causing C9orf72) in up to 2,000 epilepsy patients, following a recent report of the involvement of this gene in teenage-onset progressive myoclonic epilepsy6. Dr McLaughlin's Irish control WGS data will be used as a healthy control cohort and, where possible (for repeat expansions within exons), results will be validated using 25,000 exomes from the Epi25 Consortium project through research agreements in place with Prof. Cavalleri.
  Funding Agency

  SFI FutureNeuro Research Centre
  Date From

  2020-01-01
  Date To

  2021-12-31
• Title

  Project MinE Ireland: sequencing and analysis of 1,050 Irish genomes to identify the causes of amyotrophic lateral sclerosis
  Summary

  This novel project will examine the entire genetic code of over 1,000 Irish people, along with 21,000 samples from other countries, to identify the genetic basis of Amyotrophic Lateral Sclerosis (ALS), a fatal neurodegenerative disease. Changes in the genetic code of people affected with ALS contribute to the risk of disease, but the absence of knowledge of how genomics influence the way the disease manifests represents the largest obstacle to developing effective treatments. The project will examine the interplay between ancestral origin and the development of disease in Irish patients, leading to precision based treatments in collaboration with industry partners.
  Funding Agency

  Science Foundation Ireland
  Date From

  01/01/2016
  Date To

  31/12/2019
• Title

  Advancing research in neurodegenerative disease: genome analysis in amyotrophic lateral sclerosis
  Summary
  Funding Agency

  Wellcome Trust
  Date From

  March 2017
  Date To

  March 2019

Neurosciences, Bioinformatics and computational biology, Genetics,

• Best poster award, 10th Meeting of the European Network for the Cure of ALS 2012
• European Network to Cure ALS Young Investigator Award 2018
• Irish Laboratory Awards Young Leader of the Year 2018
• Best presentation award, 4th Frontiers in Neurology conference 2014

• European Network to Cure ALS Ongoing
• Irish Society of Human Genetics Ongoing
• European Society of Human Genetics Onging
• Project MinE Consortium Ongoing
• American Society of Human Genetics 31/12/2017

• UCL PhD external examiner 21-Oct-2019
• Grant proposal reviewer: MND Association (UK); Academy of Medical Sciences (UK); Strasbourg Institute for Advanced Study (UK); Association of British Neurologists (UK) 2015-present
• Progress review committee, SFI CRT in Genomic Data Science Apr 2020-onwards
• Journal reviewer: Nature Communications; Journal of Neurology, Neurosurgery and Psychiatry; Acta Neuropathologica; PLOS One; Neurobiology of Aging; BMC Medical Genomics; Genome Medicine; Amyotrophic Lateral Sclerosis and Frontotemporal dementia 2012-present
• Progress review committee, SFI CRT in Genomic Data Science Apr 2020-onwards
• Member, Scientific Advisory Board for ALS Online Genetics Database April 2019-ongoing
• UCL PhD external examiner 21-Oct-2019
• Grant proposal reviewer: MND Association (UK); Academy of Medical Sciences (UK); Strasbourg Institute for Advanced Study (UK); Association of British Neurologists (UK) 2015-present
• Panel member, judging committee for ALS Prize4Life Genetic Data Challenge (University of Massachusetts Medical School) 2017
• Member, Scientific Advisory Board for ALS Online Genetics Database April 2019-ongoing
• Journal reviewer: Nature Communications; Journal of Neurology, Neurosurgery and Psychiatry; Acta Neuropathologica; PLOS One; Neurobiology of Aging; BMC Medical Genomics; Genome Medicine; Amyotrophic Lateral Sclerosis and Frontotemporal dementia 2012-present
• Panel member, judging committee for ALS Prize4Life Genetic Data Challenge (University of Massachusetts Medical School) 2017