The involvement of MAN2C1 in the development of cortical malformations
Lisa Kerkhove , Karen Sermon , Sara Seneca , Katrien Stouffs
2020
P06.27C: Nucleotide analysis of a gene panel involved in Lysosomal Storage Disease (LSD) in patients with a strong clinical suspicion
Linda De Meirleir , Sara Seneca , G. Martens , Katrien Stouffs
European Society of Human Genetics
2017
Unraveling the molecular etiology of Pompe disease using RNA sequencing
Karen Sermon , Sara Seneca , Katrien Stouffs , Luc Regal
20th Annual meeting of the Belgian Society of Human Genetics: Genome for all?
2020
Intracranial desmoid tumor in a paediatric patient caused by heterozygous APC deletion
Alex Michotte , Stefanie Brock , Pierre Lefesvre , Alexander Gheldof
Belgian Week of Pathology
2019
P-594 Novel loss of function mutations of follicle-stimulating hormone receptor in a patient with premature ovarian insufficiency identified by infertility gene panel using next generation sequencing: Poster
S. Costagliola , Julie Désir , Anne Delbaere , Dorien Daneels
Human Reproduction 33
2018
Polyneuropathy in a young Belgian patient: A novel heterozygous mutation in the WNK1/HSN2 gene.
Jeroen de Filette , Danielle Hasaerts , Sara Seneca , Alexander Gheldof
Neurology Genetics 2 ( 1)
1
2016
Rare genetic variants potentially involved in ovarian hyperstimulation syndrome
Katrien Stouffs , Sari Daelemans , Samuel Santos-Ribeiro , Sara Seneca
Journal of Assisted Reproduction and Genetics 36 ( 3) 491 -497
6
2019
Evolutionary functional analysis and molecular regulation of the ZEB transcription factors
Alexander Gheldof , Paco Hulpiau , Frans van Roy , Bram De Craene
Cellular and Molecular Life Sciences 69 ( 15) 2527 -2541
103
2012
Clinical implementation of gene panel testing for lysosomal storage diseases
Alexander Gheldof , Sara Seneca , Katrien Stouffs , Willy Lissens
Molecular Genetics & Genomic Medicine 7 ( 2)
7
2019
Three Siblings with Progressive Encephalopathy and Destructive White Matter Lesions
Helen Franckx , Katriens Stouffs , Tim Vanderhasselt , Sara Seneca
Journal of International Child Neurology Association 18 110 -110
2018
Novel inactivating follicle-stimulating hormone receptor mutations in a patient with premature ovarian insufficiency identified by next-generation sequencing gene panel analysis
Asma Sassi , Julie Désir , Véronique Janssens , Martina Marangoni
Physics Reports 1 ( 3) 193 -201
2020
Cadherins and epithelial-to-mesenchymal transition.
Alexander Gheldof , Geert Berx
Progress in Molecular Biology and Translational Science 116 317 -336
381
2013
Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations.
Katrien Stouffs , Stéphanie Moortgat , Tim Vanderhasselt , Laura Vandervore
European Journal of Medical Genetics 61 ( 12) 733 -737
3
2018
EMT as the ultimate survival mechanism of cancer cells.
Neha Tiwari , Alexander Gheldof , Marianthi Tatari , Gerhard Christofori
Seminars in Cancer Biology 22 ( 3) 194 -207
539
2012
Convert your favorite protein modeling program into a mutation predictor: “MODICT”
Ibrahim Tanyalcin , Katrien Stouffs , Dorien Daneels , Carla Al Assaf
BMC Bioinformatics 17 ( 1) 425 -425
2
2016
Sertoli Cell-Only Syndrome: Behind the Genetic Scenes.
Katrien Stouffs , Alexander Gheldof , Herman Tournaye , Deborah Vandermaelen
BioMed Research International 2016 6191307 -6191307
29
2016
Differential impact of TGF-β and EGF on fibroblast differentiation and invasion reciprocally promotes colon cancer cell invasion
Hannelore Denys , Lara Derycke , An Hendrix , Wendy Westbroek
Cancer Letters 266 ( 2) 263 -274
69
2008
The neuronal ceroidlipofuscinoses – The journey to the diagnostic
Cristina Minca , Casandra Munteanu , Diana Barca , Catrinel Iliescu
European Journal of Paediatric Neurology 21
2017
Bi-allelic mutations in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts
Anna C. Jansen , Laura Vandervore , Ibrahim Tanyalçin , Tim Vanderhasselt
European Journal of Paediatric Neurology 21
2017
Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts
Laura Vandervore , Katrien Stouffs , Ibrahim Tanyalçin , Tim Vanderhasselt
Journal of Medical Genetics 54 ( 6) 432 -440
35
2017