Interpreting the impact of noncoding structural variation in neurodevelopmental disorders

por D’haene, Eva, Vergult, Sarah
Publicado 2020

Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome

por Vergult, Sarah, Leroy, Bart, Claerhout, Ilse, Menten, Björn
Publicado 2013

Expanding the Phenotype of B3GALNT2-Related Disorders

por D’haenens, Erika, Vergult, Sarah, Menten, Björn, Dheedene, Annelies, Kooy, R. Frank, Callewaert, Bert
Publicado 2022

Identification of long non-coding RNAs involved in neuronal development and intellectual disability

por D’haene, Eva, Jacobs, Eva Z., Volders, Pieter-Jan, De Meyer, Tim, Menten, Björn, Vergult, Sarah
Publicado 2016

Implementation of non‐invasive prenatal testing by semiconductor sequencing in a genetic laboratory

por Dheedene, Annelies, Sante, Tom, De Smet, Matthias, Vanbellinghen, Jean‐François, Grisart, Bernard, Vergult, Sarah, Janssens, Sandra, Menten, Björn
Publicado 2016

Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency

por Vantroys, Elise, Smet, Joél, Vanlander, Arnaud V., Vergult, Sarah, De Bruyne, Ruth, Roels, Frank, Stepman, Hedwig, Roeyers, Herbert, Menten, Björn, Van Coster, Rudy
Publicado 2018

ViVar: A Comprehensive Platform for the Analysis and Visualization of Structural Genomic Variation

por Sante, Tom, Vergult, Sarah, Volders, Pieter-Jan, Kloosterman, Wigard P., Trooskens, Geert, De Preter, Katleen, Dheedene, Annelies, Speleman, Frank, De Meyer, Tim, Menten, Björn
Publicado 2014

CRISPR/Cas9-mediated genome editing in naïve human embryonic stem cells

por Jacobs, Eva Z., Warrier, Sharat, Volders, Pieter-Jan, D’haene, Eva, Van Lombergen, Eva, Vantomme, Lies, Van der Jeught, Margot, Heindryckx, Björn, Menten, Björn, Vergult, Sarah
Publicado 2017

Identification of Two Critically Deleted Regions within Chromosome Segment 7q35-q36 in EVI1 Deregulated Myeloid Leukemia Cell Lines

por De Weer, An, Poppe, Bruce, Vergult, Sarah, Van Vlierberghe, Pieter, Petrick, Marjan, De Bock, Robrecht, Benoit, Yves, Noens, Lucien, De Paepe, Anne, Van Roy, Nadine, Menten, Björn, Speleman, Frank
Publicado 2010

A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics

por D’haene, Eva, Bar-Yaacov, Reut, Bariah, Inbar, Vantomme, Lies, Van Loo, Sien, Cobos, Francisco Avila, Verboom, Karen, Eshel, Reut, Alatawna, Rawan, Menten, Björn, Birnbaum, Ramon Y, Vergult, Sarah
Publicado 2019

A Reassessment of Copy Number Variations in Congenital Heart Defects: Picturing the Whole Genome

por Meerschaut, Ilse, Vergult, Sarah, Dheedene, Annelies, Menten, Björn, De Groote, Katya, De Wilde, Hans, Muiño Mosquera, Laura, Panzer, Joseph, Vandekerckhove, Kristof, Coucke, Paul J., De Wolf, Daniël, Callewaert, Bert
Publicado 2021

New insights into the phenotype of FARS2 deficiency

por Vantroys, Elise, Larson, Austin, Friederich, Marisa, Knight, Kaz, Swanson, Michael A., Powell, Christopher A., Smet, Joél, Vergult, Sarah, De Paepe, Boel, Seneca, Sara, Roeyers, Herbert, Menten, Björn, Minczuk, Michal, Vanlander, Arnaud, Van Hove, Johan, Van Coster, Rudy
Publicado 2017

HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations

por Hirsch, Naama, Dahan, Idit, D'haene, Eva, Avni, Matan, Vergult, Sarah, Vidal-García, Marta, Magini, Pamela, Graziano, Claudio, Severi, Giulia, Bonora, Elena, Nardone, Anna Maria, Brancati, Francesco, Fernández-Jaén, Alberto, Rory, Olson J., Hallgrímsson, Benedikt, Birnbaum, Ramon Y.
Publicado 2022

Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination

por Coppieters, Frauke, Ascari, Giulia, Dannhausen, Katharina, Nikopoulos, Konstantinos, Peelman, Frank, Karlstetter, Marcus, Xu, Mingchu, Brachet, Cécile, Meunier, Isabelle, Tsilimbaris, Miltiadis K., Tsika, Chrysanthi, Blazaki, Styliani V., Vergult, Sarah, Farinelli, Pietro, Van Laethem, Thalia, Bauwens, Miriam, De Bruyne, Marieke, Chen, Rui, Langmann, Thomas, Sui, Ruifang, Meire, Françoise, Rivolta, Carlo, Hamel, Christian P., Leroy, Bart P., De Baere, Elfride
Publicado 2016

Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

por Van de Sompele, Stijn, Small, Kent W., Cicekdal, Munevver Burcu, Soriano, Víctor López, D’haene, Eva, Shaya, Fadi S., Agemy, Steven, Van der Snickt, Thijs, Rey, Alfredo Dueñas, Rosseel, Toon, Van Heetvelde, Mattias, Vergult, Sarah, Balikova, Irina, Bergen, Arthur A., Boon, Camiel J.F., De Zaeytijd, Julie, Inglehearn, Chris F., Kousal, Bohdan, Leroy, Bart P., Rivolta, Carlo, Vaclavik, Veronika, van den Ende, Jenneke, van Schooneveld, Mary J., Gómez-Skarmeta, José Luis, Tena, Juan J., Martinez-Morales, Juan R., Liskova, Petra, Vleminckx, Kris, De Baere, Elfride
Publicado 2022