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 | 4739 | 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 | 1568 | 2019 |
Analysis of shared heritability in common disorders of the brain Brainstorm Consortium, V Anttila, B Bulik-Sullivan, HK Finucane, ... Science 360 (6395), eaap8757, 2018 | 1374 | 2018 |
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 | 839 | 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 | 702 | 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 | 678 | 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 | 665 | 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 | 596 | 2015 |
Parkinson's disease induced pluripotent stem cells with triplication of the α-synuclein locus MJ Devine, M Ryten, P Vodicka, AJ Thomson, T Burdon, H Houlden, ... Nature communications 2 (1), 440, 2011 | 532 | 2011 |
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 | 527 | 2014 |
Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study CD Whelan, A Altmann, JA Botía, N Jahanshad, DP Hibar, J Absil, ... Brain 141 (2), 391-408, 2018 | 416 | 2018 |
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 | 415 | 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 | 393 | 2013 |
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 | 381 | 2014 |
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 | 378 | 2017 |
100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report 100,000 Genomes Project Pilot Investigators New England Journal of Medicine 385 (20), 1868-1880, 2021 | 371 | 2021 |
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 | 361 | 2017 |
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 | 303 | 2017 |
Gene expression changes with age in skin, adipose tissue, blood and brain D Glass, A Viñuela, MN Davies, A Ramasamy, L Parts, D Knowles, ... Genome biology 14, 1-12, 2013 | 295 | 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 | 289 | 2012 |