Chromosomal phenotypes and submicroscopic abnormalities

Por Devriendt Koen, Vermeesch Joris R
Publicado em 2004-01-01

Chromosomal phenotypes and submicroscopic abnormalities

Por Devriendt, Koen, Vermeesch, Joris R
Publicado em 2004

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

Por Ardui, Simon, Ameur, Adam, Vermeesch, Joris R, Hestand, Matthew S
Publicado no Nucleic Acids Res (2018)

Direct fluorescent labelling of clones by DOP PCR

Por Backx, Liesbeth, Thoelen, Reinhilde, Van Esch, Hilde, Vermeesch, Joris R
Publicado em 2008

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

Por Herten, Koen, Hestand, Matthew S, Vermeesch, Joris R, Van Houdt, Jeroen KJ
Publicado no BMC Bioinformatics (2015)

Preimplantation genetic diagnosis guided by single-cell genomics

Por Van der Aa, Niels, Esteki, Masoud Zamani, Vermeesch, Joris R, Voet, Thierry
Publicado em 2013

The causality of de novo copy number variants is overestimated

Por Vermeesch, Joris R, Balikova, Irina, Schrander-Stumpel, Connie, Fryns, Jean-Pierre, Devriendt, Koenraad
Publicado em 2011

Single-cell copy number variation detection

Por Cheng, Jiqiu, Vanneste, Evelyne, Konings, Peter, Voet, Thierry, Vermeesch, Joris R, Moreau, Yves
Publicado em 2011

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

Por Robberecht, Caroline, Voet, Thierry, Esteki, Masoud Zamani, Nowakowska, Beata A., Vermeesch, Joris R.
Publicado em 2013

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

Por Hart, Lesley, Rauch, Anita, Carr, Antony M., Vermeesch, Joris R., O’Driscoll, Mark
Publicado em 2014

Single cell segmental aneuploidy detection is compromised by S phase

Por Dimitriadou, Eftychia, Van der Aa, Niels, Cheng, Jiqiu, Voet, Thierry, Vermeesch, Joris R
Publicado em 2014

Novel CASK mutations in cases with syndromic microcephaly

Por Cristofoli, Francesca, Devriendt, Koen, Davis, Erica E., Van Esch, Hilde, Vermeesch, Joris R.
Publicado no Hum Mutat (2018)

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

Por Zablotskaya, Alena, Van Esch, Hilde, Verstrepen, Kevin J., Froyen, Guy, Vermeesch, Joris R.
Publicado no BMC Med Genomics (2018)

Somatic Genomic Variations in Early Human Prenatal Development

Por Robberecht, Caroline, Vanneste, Evelyne, Pexsters, Anne, D’Hooghe, Thomas, Voet, Thierry, Vermeesch, Joris R.
Publicado em 2010

Novel STIL Compound Heterozygous Mutations Cause Severe Fetal Microcephaly and Centriolar Lengthening

Por Cristofoli, Francesca, De Keersmaecker, Bart, De Catte, Luc, Vermeesch, Joris R., Van Esch, Hilde
Publicado no Mol Syndromol (2017)

Skeletal muscle repair by adult human mesenchymal stem cells from synovial membrane

Por De Bari, Cosimo, Dell'Accio, Francesco, Vandenabeele, Frank, Vermeesch, Joris R., Raymackers, Jean-Marc, Luyten, Frank P.
Publicado em 2003

Wolf–Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions

Por Engbers, Hannelie, van der Smagt, Jasper J, van ‘t Slot, Ruben, Vermeesch, Joris R, Hochstenbach, Ron, Poot, Martin
Publicado em 2009

Large-scale analysis of tandem repeat variability in the human genome

Por Duitama, Jorge, Zablotskaya, Alena, Gemayel, Rita, Jansen, An, Belet, Stefanie, Vermeesch, Joris R., Verstrepen, Kevin J., Froyen, Guy
Publicado em 2014

Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience

Por Ardui, Simon, Race, Valerie, de Ravel, Thomy, Van Esch, Hilde, Devriendt, Koenraad, Matthijs, Gert, Vermeesch, Joris R.
Publicado no Front Genet (2018)

Molecular genetics of 22q11.2 deletion syndrome

Por Morrow, Bernice E., McDonald-McGinn, Donna M., Emanuel, Beverly S., Vermeesch, Joris R., Scambler, Peter J.
Publicado no Am J Med Genet A (2018)