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Dr. Russell Mc Laughlin

Ussher Assistant Professor (Genetics)

 


 Detecting the dark matter of neurodegeneration: repeat expansions in amyotrophic lateral sclerosis
 The genetic pleiotropy of neurodegenerative mutations
 Whole-genome sequencing of 1000 Irish ALS patients and controls to identify novel ALS genes and pathways
 Project MinE Ireland: sequencing and analysis of 1,050 Irish genomes to identify the causes of amyotrophic lateral sclerosis
 Advancing research in neurodegenerative disease: genome analysis in amyotrophic lateral sclerosis

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Details Date
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
Language Skill Reading Skill Writing Skill Speaking
English Fluent Fluent Fluent
German Medium Basic Basic
Details Date From Date To
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
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, Notes: [cited By 0], Journal Article, PUBLISHED  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, Notes: [cited By 0], Journal Article, PUBLISHED  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 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, Notes: [cited By 0], Journal Article, PUBLISHED  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, Notes: [2021 Nov 17:awab322. doi: 10.1093/brain/awab322. Online ahead of print. PMID: 34791079 ], Journal Article, PUBLISHED
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 , Notes: [cited By 10], Journal Article, PUBLISHED  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, Notes: [doi: 10.1007/s00415-021-10575-w. Online ahead of print. PMID: 33983551], Journal Article, PUBLISHED  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, Notes: [2021 Jun 24:jnnp-2021-326854. doi: 10.1136/jnnp-2021-326854. Online ahead of print. PMID: 34168085], Journal Article, PUBLISHED
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 , Notes: [cited By 2], Journal Article, PUBLISHED  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, Notes: [doi: 10.1007/s11682-020-00421-4. PMID: 33409820], Journal Article, PUBLISHED  DOI
McLaughlin, R.L., REscan: Inferring repeat expansions and structural variation in paired-end short read sequencing data, Bioinformatics, 37, (6), 2021, p871-872 , Notes: [cited By 0], Journal Article, PUBLISHED  DOI
  

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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, PUBLISHED

  

Award Date
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