| 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), 1370-1374, 2012 | 644 | 2012 |
| 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 genetics 5 (7), e1000559, 2009 | 320 | 2009 |
| Common epigenetic changes of D4Z4 in contraction‐dependent and contraction‐independent FSHD JC de Greef, RJLF Lemmers, BGM van Engelen, S Sacconi, SL Venance, ... Human mutation 30 (10), 1449-1459, 2009 | 215 | 2009 |
| Clinical features of facioscapulohumeral muscular dystrophy 2 JC De Greef, R Lemmers, P Camano, JW Day, S Sacconi, M Dunand, ... Neurology 75 (17), 1548-1554, 2010 | 198 | 2010 |
| Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2 JC De Greef, J Wang, J Balog, JT Den Dunnen, RR Frants, ... The American Journal of Human Genetics 88 (6), 796-804, 2011 | 192 | 2011 |
| Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome PE Thijssen, Y Ito, G Grillo, J Wang, G Velasco, H Nitta, M Unoki, ... Nature communications 6 (1), 7870, 2015 | 175 | 2015 |
| Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) MM Hagleitner, A Lankester, P Maraschio, M Hultén, JP Fryns, C Schuetz, ... Journal of medical genetics 45 (2), 93-99, 2008 | 139 | 2008 |
| Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD JC De Greef, M Wohlgemuth, OA Chan, KB Hansson, D Smeets, ... Neurology 69 (10), 1018-1026, 2007 | 93 | 2007 |
| Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity S Sacconi, P Camaño, JC de Greef, RJLF Lemmers, L Salviati, P Boileau, ... Journal of medical genetics 49 (1), 41-46, 2012 | 81 | 2012 |
| Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD J Balog, PE Thijssen, JC de Greef, B Shah, BGM van Engelen, ... Epigenetics 7 (6), 579-584, 2012 | 66 | 2012 |
| Epigenetic mechanisms of facioscapulohumeral muscular dystrophy JC de Greef, RR Frants, SM van der Maarel Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 647 (1 …, 2008 | 64 | 2008 |
| Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei PS Masny, OYA Chan, JC De Greef, U Bengtsson, M Ehrlich, R Tawil, ... European Journal of Human Genetics 18 (4), 448-456, 2010 | 46 | 2010 |
| Mouse models for muscular dystrophies: an overview M van Putten, EM Lloyd, JC de Greef, V Raz, R Willmann, MD Grounds Disease models & mechanisms 13 (2), dmm043562, 2020 | 36 | 2020 |
| No effect of folic acid and methionine supplementation on D4Z4 methylation in patients with facioscapulohumeral muscular dystrophy EL Van der Kooi, JC De Greef, M Wohlgemuth, RR Frants, ... Neuromuscular Disorders 16 (11), 766-769, 2006 | 35 | 2006 |
| Coupling 3D printing and novel replica molding for in house fabrication of skeletal muscle tissue engineering devices A Iuliano, E van der Wal, CWB Ruijmbeek, SLM in ‘t Groen, ... Advanced Materials Technologies 5 (9), 2000344, 2020 | 28 | 2020 |
| Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model JC de Greef, YD Krom, B den Hamer, L Snider, Y Hiramuki, ... Human Molecular Genetics 27 (4), 716-731, 2018 | 28 | 2018 |
| ICF syndrome: high variability of the chromosomal phenotype and association with classical Hodgkin lymphoma C Schuetz, G Barbi, TFE Barth, M Hoenig, A Schulz, P Möeller, D Smeets, ... American Journal of Medical Genetics Part A 143 (17), 2052-2057, 2007 | 23 | 2007 |
| Collagen VI deficiency reduces muscle pathology, but does not improve muscle function, in the γ-sarcoglycan-null mouse JC de Greef, R Hamlyn, BS Jensen, R O'Campo Landa, JR Levy, ... Human molecular genetics 25 (7), 1357-1369, 2016 | 17 | 2016 |
| Facioscapulohumeral muscular dystrophy: the road to targeted therapies MS Tihaya, K Mul, J Balog, JC de Greef, SJ Tapscott, R Tawil, JM Statland, ... Nature Reviews Neurology 19 (2), 91-108, 2023 | 14 | 2023 |
| Protective role for the N-terminal domain of α-dystroglycan in Influenza A virus proliferation JC de Greef, B Slütter, ME Anderson, R Hamlyn, R O’Campo Landa, ... Proceedings of the National Academy of Sciences 116 (23), 11396-11401, 2019 | 14 | 2019 |
