| 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 |
| A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N–terminus of β–amyloid M Mullan, F Crawford, K Axelman, H Houlden, L Lilius, B Winblad, ... Nature genetics 1 (5), 345-347, 1992 | 2272 | 1992 |
| Genome-wide association study reveals genetic risk underlying Parkinson's disease J Simon-Sanchez, C Schulte, JM Bras, M Sharma, JR Gibbs, D Berg, ... Nature genetics 41 (12), 1308-1312, 2009 | 2244 | 2009 |
| 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 |
| 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 |
| Early-onset Alzheimer's disease caused by mutations at codon 717 of the β-amyloid precursor protein gene MC Chartier-Harlin, F Crawford, H Houlden, A Warren, D Hughes, ... Nature 353 (6347), 844-846, 1991 | 1784 | 1991 |
| 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 |
| Association of an Extended Haplotype in the Tau Gene with Progressive Supranuclear Palsy M Baker, I Litvan, H Houlden, J Adamson, D Dickson, J Perez-Tur, ... Human molecular genetics 8 (4), 711-715, 1999 | 949 | 1999 |
| A common polymorphism in the brain‐derived neurotrophic factor gene (BDNF) modulates human cortical plasticity and the response to rTMS B Cheeran, P Talelli, F Mori, G Koch, A Suppa, M Edwards, H Houlden, ... The Journal of physiology 586 (23), 5717-5725, 2008 | 863 | 2008 |
| Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease J Neumann, J Bras, E Deas, SS O'Sullivan, L Parkkinen, RH Lachmann, ... Brain 132 (7), 1783-1794, 2009 | 807 | 2009 |
| Mapping the human genetic architecture of COVID-19 Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ... Nature 600 (7889), 472-477, 2021 | 804 | 2021 |
| A novel α-synuclein missense mutation in Parkinson disease C Proukakis, CG Dudzik, T Brier, DS MacKay, JM Cooper, GL Millhauser, ... Neurology 80 (11), 1062-1064, 2013 | 590 | 2013 |
| Characterization of PLA2G6 as a locus for dystonia‐parkinsonism C Paisan‐Ruiz, KP Bhatia, A Li, D Hernandez, M Davis, NW Wood, ... Annals of neurology 65 (1), 19-23, 2009 | 584 | 2009 |
| 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 | 557 | 2011 |
| α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson’s disease and multiple system atrophy? AP Kiely, YT Asi, E Kara, P Limousin, H Ling, P Lewis, C Proukakis, ... Acta neuropathologica 125, 753-769, 2013 | 533 | 2013 |
| Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype H Houlden, M Baker, HR Morris, N MacDonald, S Pickering–Brown, ... Neurology 56 (12), 1702-1706, 2001 | 494 | 2001 |
| 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 | 480 | 2021 |
| Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia A Cortese, R Simone, R Sullivan, J Vandrovcova, H Tariq, WY Yau, ... Nature genetics 51 (4), 649-658, 2019 | 472 | 2019 |
| A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1 R Crook, A Verkkoniemi, J Perez-Tur, N Mehta, M Baker, H Houlden, ... Nature medicine 4 (4), 452-455, 1998 | 468 | 1998 |
| Early onset familial Alzheimer’s disease: mutation frequency in 31 families JC Janssen, JA Beck, TA Campbell, A Dickinson, NC Fox, RJ Harvey, ... Neurology 60 (2), 235-239, 2003 | 442 | 2003 |
