Jessica de Greef
Jessica de Greef
Assistant Professor
Verified email at lumc.nl
Title
Cited by
Cited by
Year
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
4932012
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
2842009
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
1782010
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
1752009
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
1432011
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), 1-8, 2015
1102015
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)
MM Hagleitner, A Lankester, P Maraschio, M Hulten, JP Fryns, C Schuetz, ...
Journal of medical genetics 45 (2), 93-99, 2008
1062008
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
792007
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
622012
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
612012
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
582008
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
412010
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
232006
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
192007
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
162018
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
122020
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
122016
Protective role for the N-terminal domain of α-dystroglycan in Influenza A virus proliferation
JC de Greef, B Slütter, ME Anderson, R Hamlyn, ROC Landa, EJ McNutt, ...
Proceedings of the National Academy of Sciences 116 (23), 11396-11401, 2019
92019
The prospects of targeting DUX4 in facioscapulohumeral muscular dystrophy
LF Bouwman, SM van der Maarel, JC de Greef
Current Opinion in Neurology 33 (5), 635-640, 2020
62020
Dnmt3b regulates DUX4 expression in a tissue-dependent manner in transgenic D4Z4 mice
LF Bouwman, B den Hamer, EP Verveer, LJS Lerink, YD Krom, ...
Skeletal Muscle 10 (1), 1-15, 2020
22020
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