| Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A S Züchner, IV Mersiyanova, M Muglia, N Bissar-Tadmouri, J Rochelle, ... Nature genetics 36 (5), 449-451, 2004 | 1873 | 2004 |
| The human phenotype ontology in 2017 S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ... Nucleic acids research 45 (D1), D865-D876, 2017 | 813 | 2017 |
| dSarm/Sarm1 is required for activation of an injury-induced axon death pathway JM Osterloh, J Yang, TM Rooney, AN Fox, R Adalbert, EH Powell, ... Science 337 (6093), 481-484, 2012 | 671 | 2012 |
| Genome-wide analyses identify KIF5A as a novel ALS gene A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ... Neuron 97 (6), 1267-1288, 2018 | 591 | 2018 |
| Genome‐Wide Association Study Confirms SNPs in SNCA and the MAPT Region as Common Risk Factors for Parkinson Disease TL Edwards, WK Scott, C Almonte, A Burt, EH Powell, GW Beecham, ... Annals of human genetics 74 (2), 97-109, 2010 | 574 | 2010 |
| TIA1 mutations in amyotrophic lateral sclerosis and frontotemporal dementia promote phase separation and alter stress granule dynamics IR Mackenzie, AM Nicholson, M Sarkar, J Messing, MD Purice, C Pottier, ... Neuron 95 (4), 808-816. e9, 2017 | 565 | 2017 |
| Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of α-synuclein G Wang, JM van der Walt, G Mayhew, YJ Li, S Züchner, WK Scott, ... The American Journal of Human Genetics 82 (2), 283-289, 2008 | 560 | 2008 |
| The Matchmaker Exchange: a platform for rare disease gene discovery AA Philippakis, DR Azzariti, S Beltran, AJ Brookes, CA Brownstein, ... Human mutation 36 (10), 915-921, 2015 | 492 | 2015 |
| MFN2 mutation distribution and genotype/phenotype correlation in Charcot–Marie–Tooth type 2 K Verhoeven, KG Claeys, S Züchner, JM Schröder, J Weis, C Ceuterick, ... Brain 129 (8), 2093-2102, 2006 | 432 | 2006 |
| 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 | 428 | 2019 |
| Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2 S Züchner, P De Jonghe, A Jordanova, KG Claeys, V Guergueltcheva, ... Annals of Neurology: Official Journal of the American Neurological …, 2006 | 428 | 2006 |
| Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease S Züchner, M Noureddine, M Kennerson, K Verhoeven, K Claeys, ... Nature genetics 37 (3), 289-294, 2005 | 419 | 2005 |
| Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy N Norton, D Li, MJ Rieder, JD Siegfried, E Rampersaud, S Züchner, ... The American Journal of Human Genetics 88 (3), 273-282, 2011 | 389 | 2011 |
| Regulation of the epigenome by vitamin C JI Young, S Züchner, G Wang Annual review of nutrition 35, 545-564, 2015 | 343 | 2015 |
| CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis V Fridman, B Bundy, MM Reilly, D Pareyson, C Bacon, J Burns, J Day, ... Journal of Neurology, Neurosurgery & Psychiatry 86 (8), 873-878, 2015 | 341 | 2015 |
| Genetics of Charcot-Marie-Tooth (CMT) disease within the frame of the human genome project success V Timmerman, AV Strickland, S Züchner Genes 5 (1), 13-32, 2014 | 291 | 2014 |
| De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy S Syrbe, U Hedrich, E Riesch, T Djémié, S Müller, RS Møller, B Maher, ... Nature genetics 47 (4), 393-399, 2015 | 287 | 2015 |
| Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31 S Züchner, G Wang, KN Tran-Viet, MA Nance, PC Gaskell, JM Vance, ... The American Journal of Human Genetics 79 (2), 365-369, 2006 | 286 | 2006 |
| Hereditary spastic paraplegia: clinicogenetic lessons from 608 patients R Schüle, S Wiethoff, P Martus, KN Karle, S Otto, S Klebe, S Klimpe, ... Annals of neurology 79 (4), 646-658, 2016 | 267 | 2016 |
| Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia A Sirmaci, M Spiliopoulos, F Brancati, E Powell, D Duman, A Abrams, ... The American Journal of Human Genetics 89 (2), 289-294, 2011 | 264 | 2011 |
