| 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 | 4905 | 2011 |
| Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17 M Hutton, CL Lendon, P Rizzu, M Baker, S Froelich, H Houlden, ... Nature 393 (6686), 702-705, 1998 | 4332 | 1998 |
| Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism V Bonifati, P Rizzu, MJ Van Baren, O Schaap, GJ Breedveld, E Krieger, ... Science 299 (5604), 256-259, 2003 | 3529 | 2003 |
| An atlas of active enhancers across human cell types and tissues R Andersson, C Gebhard, I Miguel-Escalada, I Hoof, J Bornholdt, M Boyd, ... Nature 507 (7493), 455-461, 2014 | 2749 | 2014 |
| Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease MA Nalls, N Pankratz, CM Lill, CB Do, DG Hernandez, M Saad, ... Nature genetics 46 (9), 989-993, 2014 | 2066 | 2014 |
| Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1 KA McAllister, KM Grogg, DW Johnson, CJ Gallione, MA Baldwin, ... Nature genetics 8 (4), 345-351, 1994 | 1859 | 1994 |
| 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 | 1836 | 2019 |
| A promoter-level mammalian expression atlas Nature 507 (7493), 462-470, 2014 | 1771 | 2014 |
| Analysis of shared heritability in common disorders of the brain Brainstorm Consortium, V Anttila, B Bulik-Sullivan, HK Finucane, ... Science 360 (6395), eaap8757, 2018 | 1454 | 2018 |
| Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study E Majounie, AE Renton, K Mok, EGP Dopper, A Waite, S Rollinson, ... The Lancet Neurology 11 (4), 323-330, 2012 | 1376 | 2012 |
| An atlas of human long non-coding RNAs with accurate 5′ ends CC Hon, JA Ramilowski, J Harshbarger, N Bertin, OJL Rackham, J Gough, ... Nature 543 (7644), 199-204, 2017 | 1048 | 2017 |
| Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies International Parkinson Disease Genomics Consortium The Lancet 377 (9766), 641-649, 2011 | 1021 | 2011 |
| Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy B Brais, JP Bouchard, YG Xie, DL Rochefort, N Chrétien, FMS Tomé, ... Nature genetics 18 (2), 164-167, 1998 | 958 | 1998 |
| Somatic retrotransposition alters the genetic landscape of the human brain JK Baillie, MW Barnett, KR Upton, DJ Gerhardt, TA Richmond, F De Sapio, ... Nature 479 (7374), 534-537, 2011 | 832 | 2011 |
| DLB and PDD boundary issues: diagnosis, treatment, molecular pathology, and biomarkers CF Lippa, JE Duda, M Grossman, HI Hurtig, D Aarsland, BF Boeve, ... Neurology 68 (11), 812-819, 2007 | 704 | 2007 |
| Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population‐based study SM Rosso, LD Kaat, T Baks, M Joosse, I De Koning, Y Pijnenburg, ... Brain 126 (9), 2016-2022, 2003 | 690 | 2003 |
| Role of COL4A1 in small-vessel disease and hemorrhagic stroke DB Gould, FC Phalan, SE Van Mil, JP Sundberg, K Vahedi, P Massin, ... New England Journal of Medicine 354 (14), 1489-1496, 2006 | 659 | 2006 |
| Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy GU Höglinger, NM Melhem, DW Dickson, PMA Sleiman, LS Wang, L Klei, ... Nature genetics 43 (7), 699-705, 2011 | 650 | 2011 |
| Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions VM Van Deerlin, PMA Sleiman, M Martinez-Lage, A Chen-Plotkin, ... Nature genetics 42 (3), 234-239, 2010 | 625 | 2010 |
| Mutations in Col4a1 Cause Perinatal Cerebral Hemorrhage and Porencephaly DB Gould, FC Phalan, GJ Breedveld, SE Van Mil, RS Smith, JC Schimenti, ... Science 308 (5725), 1167-1171, 2005 | 622 | 2005 |
