Chromosomal phenotypes and submicroscopic abnormalities

por Devriendt, Koen, Vermeesch, Joris R
Publicado 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 2018

A benchmark of structural variation detection by long reads through a realistic simulated model

por Dierckxsens, Nicolas, Li, Tong, Vermeesch, Joris R., Xie, Zhi
Publicado 2021

Direct fluorescent labelling of clones by DOP PCR

por Backx, Liesbeth, Thoelen, Reinhilde, Van Esch, Hilde, Vermeesch, Joris R
Publicado 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 2015

Preimplantation genetic diagnosis guided by single-cell genomics

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

Single-cell copy number variation detection

por Cheng, Jiqiu, Vanneste, Evelyne, Konings, Peter, Voet, Thierry, Vermeesch, Joris R, Moreau, Yves
Publicado 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 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 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 2014

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 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 2010

22q11.2 Low Copy Repeats Expanded in the Human Lineage

por Vervoort, Lisanne, Dierckxsens, Nicolas, Pereboom, Zjef, Capozzi, Oronzo, Rocchi, Mariano, Shaikh, Tamim H., Vermeesch, Joris R.
Publicado 2021

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 2003

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 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 2018

What next for preimplantation genetic screening? High mitotic chromosome instability rate provides the biological basis for the low success rate

por Vanneste, Evelyne, Voet, Thierry, Melotte, Cindy, Debrock, Sophie, Sermon, Karen, Staessen, Catherine, Liebaers, Inge, Fryns, Jean-Pierre, D'Hooghe, Thomas, Vermeesch, Joris R.
Publicado 2009

Pulmonary transcriptome analysis in the surgically induced rabbit model of diaphragmatic hernia treated with fetal tracheal occlusion

por Engels, Alexander C., Brady, Paul D., Kammoun, Molka, Finalet Ferreiro, Julio, DeKoninck, Philip, Endo, Masayuki, Toelen, Jaan, Vermeesch, Joris R., Deprest, Jan
Publicado 2016

Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease

por Sifrim, Alejandro, Van Houdt, Jeroen KJ, Tranchevent, Leon-Charles, Nowakowska, Beata, Sakai, Ryo, Pavlopoulos, Georgios A, Devriendt, Koen, Vermeesch, Joris R, Moreau, Yves, Aerts, Jan
Publicado 2012

Zygotes segregate entire parental genomes in distinct blastomere lineages causing cleavage-stage chimerism and mixoploidy

por Destouni, Aspasia, Zamani Esteki, Masoud, Catteeuw, Maaike, Tšuiko, Olga, Dimitriadou, Eftychia, Smits, Katrien, Kurg, Ants, Salumets, Andres, Van Soom, Ann, Voet, Thierry, Vermeesch, Joris R.
Publicado 2016