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| Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4 YJ De Kok, SM van der Maarel, M Bitner-Glindzicz, I Huber, AP Monaco, ... Science 267 (5198), 685-688, 1995 | 484 | 1995 |
| Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 RJLF Lemmers, R Tawil, LM Petek, J Balog, GJ Block, GWE Santen, ... Nature genetics 44 (12), 1370, 2012 | 453 | 2012 |
| Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene L Snider, LN Geng, RJLF Lemmers, M Kyba, CB Ware, AM Nelson, ... PLoS genet 6 (10), e1001181, 2010 | 363 | 2010 |
| Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy PGM van Overveld, RJFL Lemmers, LA Sandkuijl, L Enthoven, ... Nature genetics 35 (4), 315-317, 2003 | 357 | 2003 |
| Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element J Gabriels, MC Beckers, H Ding, A De Vriese, S Plaisance, ... Gene 236 (1), 25-32, 1999 | 329 | 1999 |
| DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy LN Geng, Z Yao, L Snider, AP Fong, JN Cech, JM Young, ... Developmental cell 22 (1), 38-51, 2012 | 324 | 2012 |
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| Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts PAJ Leegwater, BQ Yuan, J van der Steen, J Mulders, AAM Könst, ... The American Journal of Human Genetics 68 (4), 831-838, 2001 | 276 | 2001 |
| Specific loss of histone H3 lysine 9 trimethylation and HP1γ/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD) W Zeng, JC De Greef, YY Chen, R Chien, X Kong, HC Gregson, ... PLoS Genet 5 (7), e1000559, 2009 | 269 | 2009 |
| Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere RJLF Lemmers, P de Kievit, L Sandkuijl, GW Padberg, GJB van Ommen, ... Nature genetics 32 (2), 235-236, 2002 | 257 | 2002 |
| ProteomeBinders: planning a European resource of affinity reagents for analysis of the human proteome MJ Taussig, O Stoevesandt, CAK Borrebaeck, AR Bradbury, D Cahill, ... Nature methods 4 (1), 13-17, 2007 | 247 | 2007 |
| Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation ST Winokur, YW Chen, PS Masny, JH Martin, JT Ehmsen, SJ Tapscott, ... Human molecular genetics 12 (22), 2895-2907, 2003 | 221 | 2003 |
| Population-based incidence and prevalence of facioscapulohumeral dystrophy JCW Deenen, H Arnts, SM van der Maarel, GW Padberg, ... Neurology 83 (12), 1056-1059, 2014 | 211 | 2014 |
| RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy L Snider, A Asawachaicharn, AE Tyler, LN Geng, LM Petek, L Maves, ... Human molecular genetics 18 (13), 2414-2430, 2009 | 205 | 2009 |
| MuSK IgG4 autoantibodies cause myasthenia gravis by inhibiting binding between MuSK and Lrp4 MG Huijbers, W Zhang, R Klooster, EH Niks, MB Friese, KR Straasheijm, ... Proceedings of the National Academy of Sciences 110 (51), 20783-20788, 2013 | 199 | 2013 |
| Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy RJLF Lemmers, M Wohlgemuth, KJ van der Gaag, PJ van der Vliet, ... The American Journal of Human Genetics 81 (5), 884-894, 2007 | 197 | 2007 |
| SOX antibodies in small-cell lung cancer and Lambert-Eaton myasthenic syndrome: frequency and relation with survival MJ Titulaer, R Klooster, M Potman, L Sabater, F Graus, IM Hegeman, ... Journal of Clinical Oncology 27 (26), 4260-4267, 2009 | 176 | 2009 |
| Muscle-specific kinase myasthenia gravis IgG4 autoantibodies cause severe neuromuscular junction dysfunction in mice R Klooster, JJ Plomp, MG Huijbers, EH Niks, KR Straasheijm, FJ Detmers, ... Brain 135 (4), 1081-1101, 2012 | 174 | 2012 |
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