joris vermeesch
joris vermeesch
Unknown affiliation
Verified email at uzleuven.be
Title
Cited by
Cited by
Year
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
DT Miller, MP Adam, S Aradhya, LG Biesecker, AR Brothman, NP Carter, ...
The American Journal of Human Genetics 86 (5), 749-764, 2010
22252010
Recurrent rearrangements of chromosome 1q21. 1 and variable pediatric phenotypes
HC Mefford, AJ Sharp, C Baker, A Itsara, Z Jiang, K Buysse, S Huang, ...
New England Journal of Medicine 359 (16), 1685-1699, 2008
7222008
Chromosome instability is common in human cleavage-stage embryos
E Vanneste, T Voet, C Le Caignec, M Ampe, P Konings, C Melotte, ...
Nature medicine 15 (5), 577-583, 2009
7162009
Skeletal muscle repair by adult human mesenchymal stem cells from synovial membrane
C De Bari, F Dell'Accio, F Vandenabeele, JR Vermeesch, JM Raymackers, ...
The Journal of cell biology 160 (6), 909-918, 2003
5602003
22q11. 2 deletion syndrome
DM McDonald-McGinn, KE Sullivan, B Marino, N Philip, A Swillen, ...
Nature reviews Disease primers 1 (1), 1-19, 2015
4552015
Fusion of NUP214 to ABL1 on amplified episomes in T-cell acute lymphoblastic leukemia
C Graux, J Cools, C Melotte, H Quentmeier, A Ferrando, R Levine, ...
Nature genetics 36 (10), 1084-1089, 2004
4422004
Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of …
B Menten, N Maas, B Thienpont, K Buysse, J Vandesompele, C Melotte, ...
Journal of medical genetics 43 (8), 625-633, 2006
4362006
Mosaic copy number variation in human neurons
MJ McConnell, MR Lindberg, KJ Brennand, JC Piper, T Voet, ...
Science 342 (6158), 632-637, 2013
4322013
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients
M De Gregori, R Ciccone, P Magini, T Pramparo, S Gimelli, J Messa, ...
Journal of medical genetics 44 (12), 750-762, 2007
2942007
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
BWM Van Bon, HC Mefford, B Menten, DA Koolen, AJ Sharp, ...
Journal of medical genetics 46 (8), 511-523, 2009
2622009
Recurrent reciprocal deletions and duplications of 16p13. 11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
FD Hannes, AJ Sharp, HC Mefford, T de Ravel, CA Ruivenkamp, ...
Journal of medical genetics 46 (4), 223-232, 2009
2542009
Single-cell chromosomal imbalances detection by array CGH
C Le Caignec, C Spits, K Sermon, M De Rycke, B Thienpont, S Debrock, ...
Nucleic acids research 34 (9), e68-e68, 2006
2412006
Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients
O Maertens, H Prenen, M Debiec-Rychter, A Wozniak, R Sciot, P Pauwels, ...
Human molecular genetics 15 (6), 1015-1023, 2006
2272006
Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients
B Thienpont, L Mertens, T de Ravel, B Eyskens, D Boshoff, N Maas, ...
European heart journal 28 (22), 2778-2784, 2007
2032007
Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics
S Ardui, A Ameur, JR Vermeesch, MS Hestand
Nucleic acids research 46 (5), 2159-2168, 2018
1982018
Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders
IM Campbell, B Yuan, C Robberecht, R Pfundt, P Szafranski, ...
The American Journal of Human Genetics 95 (2), 173-182, 2014
1932014
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome
JKJ Van Houdt, BA Nowakowska, SB Sousa, BDC Van Schaik, ...
Nature genetics 44 (4), 445-449, 2012
1912012
Small supernumerary marker chromosomes–progress towards a genotype-phenotype correlation
T Liehr, K Mrasek, A Weise, A Dufke, L Rodríguez, NM Guardia, ...
Cytogenetic and genome research 112 (1-2), 23-34, 2006
1892006
Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis
JR Vermeesch, C Melotte, G Froyen, S Van Vooren, B Dutta, N Maas, ...
Journal of Histochemistry & Cytochemistry 53 (3), 413-422, 2005
1842005
Cellular consequences of HERG mutations in the long QT syndrome: precursors to sudden cardiac death
CE Clancy, Y Rudy
Cardiovascular research 50 (2), 301-313, 2001
1822001
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