Chromosomal phenotypes and submicroscopic abnormalities

gan Devriendt Koen, Vermeesch Joris R
Cyhoeddwyd 2004-01-01

Chromosomal phenotypes and submicroscopic abnormalities

gan Devriendt, Koen, Vermeesch, Joris R
Cyhoeddwyd 2004

Piecing together the problems in diagnosing low-level chromosomal mosaicism

gan Robberecht, Caroline, Fryns, Jean-Pierre, Vermeesch, Joris Robert
Cyhoeddwyd 2010

Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics

gan Ardui, Simon, Ameur, Adam, Vermeesch, Joris R, Hestand, Matthew S
Cyhoeddwyd yn Nucleic Acids Res (2018)

Direct fluorescent labelling of clones by DOP PCR

gan Backx, Liesbeth, Thoelen, Reinhilde, Van Esch, Hilde, Vermeesch, Joris R
Cyhoeddwyd 2008

GBSX: a toolkit for experimental design and demultiplexing genotyping by sequencing experiments

gan Herten, Koen, Hestand, Matthew S, Vermeesch, Joris R, Van Houdt, Jeroen KJ
Cyhoeddwyd yn BMC Bioinformatics (2015)

Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4

gan Backx, Liesbeth, Ceulemans, Berten, Vermeesch, Joris Robert, Devriendt, Koen, Van Esch, Hilde
Cyhoeddwyd 2009

Preimplantation genetic diagnosis guided by single-cell genomics

gan Van der Aa, Niels, Esteki, Masoud Zamani, Vermeesch, Joris R, Voet, Thierry
Cyhoeddwyd 2013

Pregnant women with confirmed neoplasms should not have noninvasive prenatal testing

gan Lenaerts, Liesbeth, Van Calsteren, Kristel, Che, Huiwen, Vermeesch, Joris Robert, Amant, Frédéric
Cyhoeddwyd yn Prenat Diagn (2019)

The causality of de novo copy number variants is overestimated

gan Vermeesch, Joris R, Balikova, Irina, Schrander-Stumpel, Connie, Fryns, Jean-Pierre, Devriendt, Koenraad
Cyhoeddwyd 2011

Single-cell copy number variation detection

gan Cheng, Jiqiu, Vanneste, Evelyne, Konings, Peter, Voet, Thierry, Vermeesch, Joris R, Moreau, Yves
Cyhoeddwyd 2011

New Array Approaches to Explore Single Cells Genomes

gan Vanneste, Evelyne, Bittman, Lilach, Van der Aa, Niels, Voet, Thierry, Vermeesch, Joris Robert
Cyhoeddwyd 2012

Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations

gan Robberecht, Caroline, Voet, Thierry, Esteki, Masoud Zamani, Nowakowska, Beata A., Vermeesch, Joris R.
Cyhoeddwyd 2013

LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this conditi...

gan Hart, Lesley, Rauch, Anita, Carr, Antony M., Vermeesch, Joris R., O’Driscoll, Mark
Cyhoeddwyd 2014

Single cell segmental aneuploidy detection is compromised by S phase

gan Dimitriadou, Eftychia, Van der Aa, Niels, Cheng, Jiqiu, Voet, Thierry, Vermeesch, Joris R
Cyhoeddwyd 2014

Novel CASK mutations in cases with syndromic microcephaly

gan Cristofoli, Francesca, Devriendt, Koen, Davis, Erica E., Van Esch, Hilde, Vermeesch, Joris R.
Cyhoeddwyd yn Hum Mutat (2018)

Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability

gan Zablotskaya, Alena, Van Esch, Hilde, Verstrepen, Kevin J., Froyen, Guy, Vermeesch, Joris R.
Cyhoeddwyd yn BMC Med Genomics (2018)

Small supernumerary marker chromosomes (sSMC) in humans; are there B chromosomes hidden among them

gan Ogilvie Caroline, Kosyakova Nadezda, Mrasek Kristin, Liehr Thomas, Vermeesch Joris, Trifonov Vladimir, Rubtsov Nikolai
Cyhoeddwyd 2008-06-01

Somatic Genomic Variations in Early Human Prenatal Development

gan Robberecht, Caroline, Vanneste, Evelyne, Pexsters, Anne, D’Hooghe, Thomas, Voet, Thierry, Vermeesch, Joris R.
Cyhoeddwyd 2010

NGS-Logistics: federated analysis of NGS sequence variants across multiple locations

gan Ardeshirdavani, Amin, Souche, Erika, Dehaspe, Luc, Van Houdt, Jeroen, Vermeesch, Joris Robert, Moreau, Yves
Cyhoeddwyd 2014