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

by Lesley Hart, Anita Rauch, Antony M. Carr, Joris R. Vermeesch, Mark O’Driscoll
Published 2014-05-01

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

by Alena Zablotskaya, Hilde Van Esch, Kevin J. Verstrepen, Guy Froyen, Joris R. Vermeesch
Published 2018-12-01

Corrigendum to “FANCA knockout in human embryonic stem cells causes a severe growth disadvantage” [Stem Cell Res.13/2 (2014) 240-50]

by Kim Vanuytsel, Qing Cai, Satish Khurana, Swati Shetty, Joris R. Vermeesch, Laura Ordovas, Catherine M. Verfaillie
Published 2020-04-01

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

by Simon Ardui, Valerie Race, Thomy de Ravel, Hilde Van Esch, Koenraad Devriendt, Gert Matthijs, Joris R. Vermeesch
Published 2018-05-01

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

by Lisanne Vervoort, Nicolas Dierckxsens, Zjef Pereboom, Zjef Pereboom, Oronzo Capozzi, Mariano Rocchi, Tamim H. Shaikh, Joris R. Vermeesch
Published 2021-07-01

FANCA knockout in human embryonic stem cells causes a severe growth disadvantage

by Kim Vanuytsel, Qing Cai, Nisha Nair, Satish Khurana, Swati Shetty, Joris R. Vermeesch, Laura Ordovas, Catherine M. Verfaillie
Published 2014-09-01

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

by Alexander C. Engels, Paul D. Brady, Molka Kammoun, Julio Finalet Ferreiro, Philip DeKoninck, Masayuki Endo, Jaan Toelen, Joris R. Vermeesch, Jan Deprest
Published 2016-02-01

Preeclampsia is Associated with Sex-Specific Transcriptional and Proteomic Changes in Fetal Erythroid Cells

by Zahra Masoumi, Gregory E. Maes, Koen Herten, Álvaro Cortés-Calabuig, Abdul Ghani Alattar, Eva Hanson, Lena Erlandsson, Eva Mezey, Mattias Magnusson, Joris R Vermeesch, Mary Familari, Stefan R Hansson
Published 2019-04-01

Pseudoautosomal region 1 length polymorphism in the human population.

by Martin A Mensah, Matthew S Hestand, Maarten H D Larmuseau, Mala Isrie, Nancy Vanderheyden, Matthias Declercq, Erika L Souche, Jeroen Van Houdt, Radka Stoeva, Hilde Van Esch, Koen Devriendt, Thierry Voet, Ronny Decorte, Peter N Robinson, Joris R Vermeesch
Published 2014-11-01

Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders

by Gregory Costain, Susan Walker, Bob Argiropoulos, Danielle A. Baribeau, Anne S. Bassett, Erik Boot, Koen Devriendt, Barbara Kellam, Christian R. Marshall, Aparna Prasad, Moises A. Serrano, D. James Stavropoulos, Hope Twede, Joris R. Vermeesch, Jacob A. S. Vorstman, Stephen W. Scherer
Published 2019-02-01