| Heterozygous germline mutations in BMPR2, encoding a TGF-β receptor, cause familial primary pulmonary hypertension KB Lane, RD Machado, MW Pauciulo, JR Thomson, JA Phillips, JE Loyd, ... Nature genetics 26 (1), 81-84, 2000 | 1661 | 2000 |
| VPS35 mutations in Parkinson disease C Vilariño-Güell, C Wider, OA Ross, JC Dachsel, JM Kachergus, ... The American Journal of Human Genetics 89 (1), 162-167, 2011 | 1060 | 2011 |
| Alpha‐synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease S Appel‐Cresswell, C Vilarino‐Guell, M Encarnacion, H Sherman, I Yu, ... Movement disorders 28 (6), 811-813, 2013 | 783 | 2013 |
| Translation initiator EIF4G1 mutations in familial Parkinson disease MC Chartier-Harlin, JC Dachsel, C Vilariño-Güell, SJ Lincoln, F Leprêtre, ... The American Journal of Human Genetics 89 (3), 398-406, 2011 | 397 | 2011 |
| DNAJC13 mutations in Parkinson disease C Vilariño-Güell, A Rajput, AJ Milnerwood, B Shah, C Szu-Tu, J Trinh, I Yu, ... Human molecular genetics 23 (7), 1794-1801, 2014 | 357 | 2014 |
| DCTN1 mutations in Perry syndrome MJ Farrer, MM Hulihan, JM Kachergus, JC Dächsel, AJ Stoessl, ... Nature genetics 41 (2), 163-165, 2009 | 353 | 2009 |
| Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case–control study OA Ross, AI Soto-Ortolaza, MG Heckman, JO Aasly, N Abahuni, G Annesi, ... The Lancet Neurology 10 (10), 898-908, 2011 | 344 | 2011 |
| Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12. 1 J Winkelmann, D Czamara, B Schormair, F Knauf, EC Schulte, ... PLoS genetics 7 (7), e1002171, 2011 | 216 | 2011 |
| LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease C Vilariño-Güell, C Wider, OA Ross, B Jasinska-Myga, J Kachergus, ... neurogenetics 11, 401-408, 2010 | 163 | 2010 |
| Novel pathogenic LRRK2 p. Asn1437His substitution in familial Parkinson's disease JO Aasly, C Vilariño‐Güell, JC Dachsel, PJ Webber, AB West, ... Movement disorders 25 (13), 2156-2163, 2010 | 158 | 2010 |
| Large-scale replication and heterogeneity in Parkinson disease genetic loci M Sharma, JPA Ioannidis, JO Aasly, G Annesi, A Brice, ... Neurology 79 (7), 659-667, 2012 | 157 | 2012 |
| Heterozygous PINK1 p. G411S increases risk of Parkinson’s disease via a dominant-negative mechanism A Puschmann, FC Fiesel, TR Caulfield, R Hudec, M Ando, D Truban, ... Brain 140 (1), 98-117, 2017 | 140 | 2017 |
| A Swedish family with de novo α-synuclein A53T mutation: Evidence for early cortical dysfunction A Puschmann, OA Ross, C Vilariño-Güell, SJ Lincoln, JM Kachergus, ... Parkinsonism & related disorders 15 (9), 627-632, 2009 | 126 | 2009 |
| Independent and joint effects of the MAPT and SNCA genes in Parkinson disease A Elbaz, OA Ross, JPA Ioannidis, AI Soto‐Ortolaza, F Moisan, J Aasly, ... Annals of neurology 69 (5), 778-792, 2011 | 123 | 2011 |
| A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants M Sharma, JPA Ioannidis, JO Aasly, G Annesi, A Brice, L Bertram, M Bozi, ... Journal of medical genetics 49 (11), 721-726, 2012 | 120 | 2012 |
| Nuclear receptor NR1H3 in familial multiple sclerosis Z Wang, AD Sadovnick, AL Traboulsee, JP Ross, CQ Bernales, ... Neuron 90 (5), 948-954, 2016 | 119 | 2016 |
| Germline mutation induction at mouse repeat DNA loci by chemical mutagens C Vilariño-Güell, AG Smith, YE Dubrova Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 526 (1 …, 2003 | 111 | 2003 |
| LINGO1 rs9652490 is associated with essential tremor and Parkinson disease C Vilariño-Güell, OA Ross, C Wider, B Jasinska-Myga, SA Cobb, ... Parkinsonism & related disorders 16 (2), 109-111, 2010 | 99 | 2010 |
| A comparative study of Parkinson's disease and leucine-rich repeat kinase 2 p. G2019S parkinsonism J Trinh, R Amouri, JE Duda, JF Morley, M Read, A Donald, ... Neurobiology of aging 35 (5), 1125-1131, 2014 | 98 | 2014 |
| Genome-wide association study in essential tremor identifies three new loci SH Müller, SL Girard, F Hopfner, ND Merner, CV Bourassa, D Lorenz, ... Brain 139 (12), 3163-3169, 2016 | 94 | 2016 |
