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Dr. Russell Mc Laughlin
Ussher Assistant Professor, Genetics

Publications and Further Research Outputs

Peer-Reviewed Publications

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 BaŠak, 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, 2022 Journal Article, 2022 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), 2022 Journal Article, 2022 DOI

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), 2022 Journal Article, 2022 DOI

McKenna MC, Tahedl M, Lope J, Chipika RH, Li Hi Shing S, Doherty MA, Hengeveld JC, Vajda A, McLaughlin RL, Hardiman O, Hutchinson S, Bede P. , Mapping cortical disease-burden at individual-level in frontotemporal dementia: implications for clinical care and pharmacological trials., Brain Imaging Behav. , 2021 Journal Article, 2021

McLaughlin, R.L., REscan: Inferring repeat expansions and structural variation in paired-end short read sequencing data, Bioinformatics, 37, (6), 2021, p871-872 Journal Article, 2021 DOI

Finegan E, Shing SLH, Chipika RH, Chang KM, McKenna MC, Doherty MA, Hengeveld JC, Vajda A, Pender N, Donaghy C, Hutchinson S, McLaughlin RL, Hardiman O, Bede P. , Extra-motor cerebral changes and manifestations in primary lateral sclerosis. , Brain Imaging Behav., 2021 Journal Article, 2021 DOI

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, p1636-1648 Journal Article, 2021 DOI

McKenna MC, Chipika RH, Li Hi Shing S, Christidi F, Lope J, Doherty MA, Hengeveld JC, Vajda A, McLaughlin RL, Hardiman O, Hutchinson S, Bede P., Infratentorial pathology in frontotemporal dementia: cerebellar grey and white matter alterations in FTD phenotypes., J Neurol., 2021 Journal Article, 2021 DOI

Dukic S, McMackin R, Costello E, Metzger M, Buxo T, Fasano A, Chipika R, Pinto-Grau M, Schuster C, Hammond M, Heverin M, Coffey A, Broderick M, Iyer PM, Mohr K, Gavin B, McLaughlin R, Pender N, Bede P, Muthuraman M, van den Berg L, Hardiman O, Nasseroleslami B. , Resting-state EEG reveals four subphenotypes of amyotrophic lateral sclerosis., Brain, 2021 Journal Article, 2021

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, p1236-1248 Journal Article, 2021 DOI

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.e4 Journal Article, 2021 DOI

Bede P, Chipika RH, Christidi F, Hengeveld JC, Karavasilis E, Argyropoulos GD, Lope J, Li Hi Shing S, Velonakis G, Dupuis L, Doherty MA, Vajda A, McLaughlin RL, Hardiman O. , Genotype-associated cerebellar profiles in ALS: focal cerebellar pathology and cerebro-cerebellar connectivity alterations. , J Neurol Neurosurg Psychiatry., 2021 Journal Article, 2021

Finegan E, Siah WF, Shing SLH, Chipika RH, Chang KM, McKenna MC, Doherty MA, Hengeveld JC, Vajda A, Donaghy C, Hutchinson S, McLaughlin RL, Hardiman O, Bede P. , Imaging and clinical data indicate considerable disease burden in 'probable' PLS: Patients with UMN symptoms for 2-4 years., Data in Brief, 32, 2020 Journal Article, 2020 DOI

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), 2020 Journal Article, 2020 DOI

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), 2020 Journal Article, 2020 DOI

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. , 2020 Journal Article, 2020 DOI

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), 2020 Journal Article, 2020 DOI

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), 2020 Journal Article, 2020 DOI

Bede P, Chipika RH, Finegan E, Li Hi Shing S, Chang KM, Doherty MA, Hengeveld JC, Vajda A, Hutchinson S, Donaghy C, McLaughlin RL, Hardiman O., Progressive brainstem pathology in motor neuron diseases: Imaging data from amyotrophic lateral sclerosis and primary lateral sclerosis. , Data in Brief, 2020 Journal Article, 2020 DOI

Finegan E, Li Hi Shing S, Siah WF, Chipika RH, Chang KM, McKenna MC, Doherty MA, Hengeveld JC, Vajda A, Donaghy C, Hutchinson S, McLaughlin RL, Hardiman O, Bede P. , Evolving diagnostic criteria in primary lateral sclerosis: The clinical and radiological basis of "probable PLS". , J Neurol Sci., 417, 2020 Journal Article, 2020 DOI

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), 2020 Journal Article, 2020 DOI

Finegan E, Hi Shing SL, Chipika RH, McKenna MC, Doherty MA, Hengeveld JC, Vajda A, Donaghy C, McLaughlin RL, Hutchinson S, Hardiman O, Bede P, Thalamic, hippocampal and basal ganglia pathology in primary lateral sclerosis and amyotrophic lateral sclerosis: Evidence from quantitative imaging data, Data in Brief, 2020 Journal Article, 2020 DOI

Chipika RH, Siah WF, Shing SLH, Finegan E, McKenna MC, Christidi F, Chang KM, Karavasilis E, Vajda A, Hengeveld JC, Doherty MA, Donaghy C, Hutchinson S, McLaughlin RL, Hardiman O, Bede P. , MRI data confirm the selective involvement of thalamic and amygdalar nuclei in amyotrophic lateral sclerosis and primary lateral sclerosis., Data in Brief, 2020 Journal Article, 2020 DOI

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., 2019 Journal Article, 2019

Bede P, Chipika RH, Finegan E, Li Hi Shing S, Doherty MA, Hengeveld JC, Vajda A, Hutchinson S, Donaghy C, McLaughlin RL, Hardiman O, Brainstem pathology in amyotrophic lateral sclerosis and primary lateral sclerosis: A longitudinal neuroimaging study, Neuroimage Clin, 2019 Journal Article, 2019 DOI

Dekker, A.M. and Diekstra, F.P. and Pulit, S.L. and Tazelaar, G.H.P. and van der Spek, R.A. and van Rheenen, W. and van Eijk, K.R. and Calvo, A. and Brunetti, M. and Damme, P.V. and Robberecht, W. and Hardiman, O. and McLaughlin, R. and Chiò, A. and Sendtner, M. and Ludolph, A.C. and Weishaupt, J.H. and Pardina, J.S.M. and van den Berg, L.H. and Veldink, J.H., Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis, Scientific Reports, 9, (1), 2019 Journal Article, 2019 DOI

Ryan, M. and Heverin, M. and McLaughlin, R.L. and Hardiman, O., Lifetime Risk and Heritability of Amyotrophic Lateral Sclerosis, JAMA Neurology, 2019 Journal Article, 2019 DOI

Ryan, M. and Zaldívar Vaillant, T. and McLaughlin, R.L. and Doherty, M.A. and Rooney, J. and Heverin, M. and Gutierrez, J. and Lara-Fernández, G.E. and Pita Rodríguez, M. and Hackembruch, J. and Perna, A. and Vazquez, M.C. and Musio, M. and Ketzoian, C.N. and Logroscino, G. and Hardiman, O., Comparison of the clinical and genetic features of amyotrophic lateral sclerosis across Cuban, Uruguayan and Irish clinic-based populations, Journal of Neurology, Neurosurgery and Psychiatry, 90, (6), 2019, p659-665 Journal Article, 2019 DOI

Tazelaar, G.H.P. and Dekker, A.M. and van Vugt, J.J.F.A. and van der Spek, R.A. and Westeneng, H.-J. and Kool, L.J.B.G. and Kenna, K.P. and van Rheenen, W. and Pulit, S.L. and McLaughlin, R.L. and Sproviero, W. and Iacoangeli, A. and HÌbers, A. and Brenner, D. and Morrison, K.E. and Shaw, P.J. and Shaw, C.E. and Panadés, M.P. and Mora Pardina, J.S. and Glass, J.D. and Hardiman, O. and Al-Chalabi, A. and van Damme, P. and Robberecht, W. and Landers, J.E. and Ludolph, A.C. and Weishaupt, J.H. and van den Berg, L.H. and Veldink, J.H. and van Es, M.A., Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort, Neurobiology of Aging, 74, 2019, p234.e9-234.e15 Journal Article, 2019 DOI

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, 2019 Journal Article, 2019

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 - 41 Journal 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), 2018 Journal Article, 2018 TARA - Full Text DOI

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 - 19 Journal Article, 2018 DOI

Chiò, A. and Mazzini, L. and D'Alfonso, S. and Corrado, L. and Canosa, A. and Moglia, C. and Manera, U. and Bersano, E. and Brunetti, M. and Barberis, M. and Veldink, J.H. and Van Den Berg, L.H. and Pearce, N. and Sproviero, W. and McLaughlin, R. and Vajda, A. and Hardiman, O. and Rooney, J. and Mora, G. and Calvo, A. and Al-Chalabi, A., The multistep hypothesis of ALS revisited, Neurology, 91, (7), 2018, pe635-e642 Journal Article, 2018 TARA - Full Text DOI

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 TARA - Full Text DOI

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, p110-116 Journal Article, 2018 DOI

Nicolas, A. and Kenna, K.P. and Renton, A.E. and Ticozzi, N. and Faghri, F. and Chia, R. and Dominov, J.A. and Kenna, B.J. and Nalls, M.A. and Keagle, P. and Rivera, A.M. and van Rheenen, W. and Murphy, N.A. and van Vugt, J.J.F.A. and Geiger, J.T. and Van der Spek, R.A. and Pliner, H.A. and Shankaracharya and Smith, B.N. and Marangi, G. and Topp, S.D. and Abramzon, Y. and Gkazi, A.S. and Eicher, J.D. and Kenna, A. and Logullo, F.O. and Simone, I.L. and Logroscino, G. and Salvi, F. and Bartolomei, I. and Borghero, G. and Murru, M.R. and Costantino, E. and Pani, C. and Puddu, R. and Caredda, C. and Piras, V. and Tranquilli, S. and Cuccu, S. and Corongiu, D. and Melis, M. and Milia, A. and Marrosu, F. and Marrosu, M.G. and Floris, G. and Cannas, A. and Capasso, M. and Caponnetto, C. and Mancardi, G. and Origone, P. and Mandich, P. and Conforti, F.L. and Cavallaro, S. and Mora, G. and Marinou, K. and Sideri, R. and Penco, S. and Mosca, L. and Lunetta, C. and Pinter, G.L. and Corbo, M. and Riva, N. and Carrera, P. and Volanti, P. and Mandrioli, J. and Fini, N. and Fasano, A. and Tremolizzo, L. and Arosio, A. and Ferrarese, C. and Trojsi, F. and Tedeschi, G. and Monsurrò, M.R. and Piccirillo, G. and Femiano, C. and Ticca, A. and Ortu, E. and La Bella, V. and Spataro, R. and Colletti, T. and Sabatelli, M. and Zollino, M. and Conte, A. and Luigetti, M. and Lattante, S. and Santarelli, M. and Petrucci, A. and Pugliatti, M. and Pirisi, A. and Parish, L.D. and Occhineri, P. and Giannini, F. and Battistini, S. and Ricci, C. and Benigni, M. and Cau, T.B. and Loi, D. and Calvo, A. and Moglia, C. and Brunetti, M. and Barberis, M. and Restagno, G. and Casale, F. and Marrali, G. and Fuda, G. and Ossola, I. and Cammarosano, S. and Canosa, A. and Ilardi, A. and Manera, U. and Grassano, M. and Tanel, R. and Pisano, F. and Mazzini, L. and Messina, S. and D'Alfonso, S. and Corrado, L. and Ferrucci, L. and Harms, M.B. and Goldstein, D.B. and Shneider, N.A. and Goutman, S.A. and Simmons, Z. and Miller, T.M. and Chandran, S. and Pal, S. and Manousakis, G. and Appel, S.H. and Simpson, E. and Wang, L. and Baloh, R.H. and Gibson, S.B. and Bedlack, R. and Lacomis, D. and Sareen, D. and Sherman, A. and Bruijn, L. and Penny, M. and Moreno, C.D.A.M. and Kamalakaran, S. and Allen, A.S. and Boone, B.E. and Brown, R.H. and Carulli, J.P. and Chesi, A. and Chung, W.K. and Cirulli, E.T. and Cooper, G.M. and Couthouis, J. and Day-Williams, A.G. and Dion, P.A. and Gitler, A.D. and Glass, J.D. and Han, Y. and Harris, T. and Hayes, S.D. and Jones, A.L. and Keebler, J. and Krueger, B.J. and Lasseigne, B.N. and Levy, S.E. and Lu, Y.-F. and Maniatis, T. and McKenna-Yasek, D. and Myers, R.M. and Petrovski, S. and Pulst, S.M. and Raphael, A.R. and Ravits, J.M. and Ren, Z. and Rouleau, G.A. and Sapp, P.C. and Sims, K.B. and Staropoli, J.F. and Waite, L.L. and Wang, Q. and Wimbish, J.R. and Xin, W.W. and Phatnani, H. and Kwan, J. and Broach, J. and Arcila-Londono, X. and Lee, E.B. and Van Deerlin, V.M. and Fraenkel, E. and Ostrow, L.W. and Baas, F. and Zaitlen, N. and Berry, J.D. and Malaspina, A. and Fratta, P. and Cox, G.A. and Thompson, L.M. and Finkbeiner, S. and Dardiotis, E. and Hornstein, E. and MacGowan, D.J.L. and Heiman-Patterson, T. and Hammell, M.G. and Patsopoulos, N.A. and Dubnau, J. and Nath, A. and Musunuri, R.L. and Evani, U.S. and Abhyankar, A. and Zody, M.C. and Kaye, J. and Wyman, S.K. and LeNail, A. and Lima, L. and Rothstein, J.D. and Svendsen, C.N. and Van Eyk, J.E. and Maragakis, N.J. and Kolb, Genome-wide Analyses Identify KIF5A as a Novel ALS Gene, Neuron, 97, (6), 2018, p1268-1283.e6 Journal Article, 2018 TARA - Full Text DOI

Van Rheenen, W. and Pulit, S.L. and Dekker, A.M. and Al Khleifat, A. and Brands, W.J. and Iacoangeli, A. and Kenna, K.P. and Kavak, E. and Kooyman, M. and McLaughlin, R.L. and Middelkoop, B. and Moisse, M. and Schellevis, R.D. and Shatunov, A. and Sproviero, W. and Tazelaar, G.H.P. and Van der Spek, R.A.A. and Van Doormaal, P.T.C. and Van Eijk, K.R. and Van Vugt, J. and Basak, A.N. and Blair, I.P. and Glass, J.D. and Hardiman, O. and Hide, W. and Landers, J.E. and Mora, J.S. and Morrison, K.E. and Newhouse, S. and Robberecht, W. and Shaw, C.E. and Shaw, P.J. and Van Damme, P. and Van Es, M.A. and Wray, N.R. and Al-Chalabi, A. and Van den Berg, L.H. and Veldink, J.H., Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis, European Journal of Human Genetics, 26, (10), 2018, p1537-1546 Journal Article, 2018 TARA - Full Text DOI

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, Frontiers in Neurology, 8, 2017, p395- Journal Article, 2017 TARA - Full Text

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

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

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

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 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, p14774 Journal Article, 2017 DOI TARA - Full Text

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 TARA - Full Text DOI

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 TARA - Full Text

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 TARA - Full Text

Cooper-Knock, J. and Robins, H. and Niedermoser, I. and Wyles, M. and Heath, P.R. and Higginbottom, A. and Walsh, T. and Kazoka, M. and Al Kheifat, A. and Al-Chalabi, A. and Basak, N. and Blair, I. and Dekker, A. and Hardiman, O. and Hide, W. and Iacoangeli, A. and Kenna, K. and Landers, J. and McLaughlin, R. and Mill, J. and Middelkoop, B. and Moisse, M. and Pardina, J.M. and Morrison, K. and Newhouse, S. and Pulit, S. and Shatunov, A. and Shaw, C. and Sproviero, W. and Tazelaar, G. and van Damme, P. and van den Berg, L. and van der Spek, R. and Eijk, K. and van Es, M. and van Rheenen, W. and van Vugt, J. and Veldink, J. and Kooyman, M. and Glass, J. and Robberecht, W. and Gotkine, M. and Drory, V. and Kiernan, M. and Neto, M.M. and Ztaz, M. and Couratier, P. and Corcia, P. and Silani, V. and Chio, A. and de Carvalho, M. and Pinto, S. and Redondo, A.G. and Andersen, P. and Weber, M. and Ticozzi, N. and Ince, P.G. and Hautbergue, G.M. and McDermott, C.J. and Kirby, J. and Shaw, P.J. and Project MinE ALS Sequencing Consortium, Targeted genetic screen in amyotrophic lateral sclerosis reveals novel genetic variants with synergistic effect on clinical phenotype, Frontiers in Molecular Neuroscience, 10, 2017, p370- Journal Article, 2017 TARA - Full Text 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

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 URL 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

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 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

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

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 TARA - Full Text DOI

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 DOI

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

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

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

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

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

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

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

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

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

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

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 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

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 TARA - Full Text DOI

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

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 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 DOI TARA - Full Text

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

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

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, 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 URL DOI

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

Non-Peer-Reviewed Publications

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, bioRxiv, 2020 Journal Article, 2020

Research Expertise

Projects

  • 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
    • 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
    • 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
    • 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
  • 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

Recognition

Representations

UCL PhD external examiner 21-Oct-2019

Member, Scientific Advisory Board for ALS Online Genetics Database April 2019-ongoing

Panel member, judging committee for ALS Prize4Life Genetic Data Challenge (University of Massachusetts Medical School) 2017

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

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

Awards and Honours

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

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

Memberships

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

American Society of Human Genetics 01/11/2016 – 31/12/2017

European Society of Human Genetics 01/06/2019 – Onging

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

Project MinE Consortium 01/09/2014 – Ongoing