A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD AE Renton, E Majounie, A Waite, J Simón-Sánchez, S Rollinson, ... Neuron 72 (2), 257-268, 2011 | 4815 | 2011 |
Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies MA Nalls, C Blauwendraat, CL Vallerga, K Heilbron, S Bandres-Ciga, ... The Lancet Neurology 18 (12), 1091-1102, 2019 | 1696 | 2019 |
Common genetic variants influence human subcortical brain structures DP Hibar, JL Stein, ME Renteria, A Arias-Vasquez, S Desrivières, ... Nature 520 (7546), 224-229, 2015 | 856 | 2015 |
Identification of common variants associated with human hippocampal and intracranial volumes JL Stein, SE Medland, AA Vasquez, DP Hibar, RE Senstad, AM Winkler, ... Nature genetics 44 (5), 552-561, 2012 | 713 | 2012 |
Genetic variability in the regulation of gene expression in ten regions of the human brain A Ramasamy, D Trabzuni, S Guelfi, V Varghese, C Smith, R Walker, T De, ... Nature neuroscience 17 (10), 1418-1428, 2014 | 692 | 2014 |
The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data PM Thompson, JL Stein, SE Medland, DP Hibar, AA Vasquez, ... Brain imaging and behavior 8, 153-182, 2014 | 686 | 2014 |
The transcriptional landscape of age in human peripheral blood MJ Peters, R Joehanes, LC Pilling, C Schurmann, KN Conneely, J Powell, ... Nature communications 6 (1), 1-14, 2015 | 622 | 2015 |
Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease C Cruchaga, CM Karch, SC Jin, BA Benitez, Y Cai, R Guerreiro, O Harari, ... Nature 505 (7484), 550-554, 2014 | 531 | 2014 |
Genome-wide meta-analysis identifies new susceptibility loci for migraine V Anttila, BS Winsvold, P Gormley, T Kurth, F Bettella, G McMahon, ... Nature genetics 45 (8), 912-917, 2013 | 471 | 2013 |
Loss of VPS13C function in autosomal-recessive parkinsonism causes mitochondrial dysfunction and increases PINK1/Parkin-dependent mitophagy S Lesage, V Drouet, E Majounie, V Deramecourt, M Jacoupy, A Nicolas, ... The American Journal of Human Genetics 98 (3), 500-513, 2016 | 418 | 2016 |
Genome-wide association study of obsessive-compulsive disorder SE Stewart, D Yu, JM Scharf, BM Neale, JA Fagerness, CA Mathews, ... Molecular psychiatry 18 (7), 788-798, 2013 | 402 | 2013 |
Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease LA Robak, IE Jansen, J Van Rooij, AG Uitterlinden, R Kraaij, J Jankovic, ... Brain 140 (12), 3191-3203, 2017 | 401 | 2017 |
Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease A Beilina, IN Rudenko, A Kaganovich, L Civiero, H Chau, SK Kalia, ... Proceedings of the National Academy of Sciences 111 (7), 2626-2631, 2014 | 386 | 2014 |
Major shifts in glial regional identity are a transcriptional hallmark of human brain aging L Soreq, J Rose, E Soreq, J Hardy, D Trabzuni, MR Cookson, C Smith, ... Cell reports 18 (2), 557-570, 2017 | 380 | 2017 |
The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues S Al-Mahdawi, RM Pinto, O Ismail, D Varshney, S Lymperi, C Sandi, ... Human molecular genetics 17 (5), 735-746, 2008 | 318 | 2008 |
Novel genetic loci associated with hippocampal volume DP Hibar, HHH Adams, N Jahanshad, G Chauhan, JL Stein, E Hofer, ... Nature communications 8 (1), 13624, 2017 | 315 | 2017 |
Widespread sex differences in gene expression and splicing in the adult human brain D Trabzuni, A Ramasamy, S Imran, R Walker, C Smith, ME Weale, ... Nature communications 4 (1), 2771, 2013 | 296 | 2013 |
Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis G Charlesworth, V Plagnol, KM Holmström, J Bras, UM Sheerin, E Preza, ... The American Journal of Human Genetics 91 (6), 1041-1050, 2012 | 295 | 2012 |
MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies D Trabzuni, S Wray, J Vandrovcova, A Ramasamy, R Walker, C Smith, ... Human molecular genetics 21 (18), 4094-4103, 2012 | 265 | 2012 |
Novel genetic loci underlying human intracranial volume identified through genome-wide association HHH Adams, DP Hibar, V Chouraki, JL Stein, PA Nyquist, ME Rentería, ... Nature neuroscience 19 (12), 1569-1582, 2016 | 252 | 2016 |