Jessica de Greef
Jessica de Greef
Senior Researcher
Verified email at lumc.nl
TitleCited byYear
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
3752012
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
2432009
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
1452009
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
1422010
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
1152011
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
882008
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
672007
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, 7870, 2015
632015
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
532008
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
492012
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
452012
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, 2010
392010
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
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
162006
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, 2017
82017
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
62016
Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients
E van der Wal, B Den Hamer, PJ van der Vliet, M Tok, T Brands, B Eussen, ...
Stem cell research 40, 101560, 2019
2019
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
2019
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