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 em 2013

Flexible analysis of digital PCR experiments using generalized linear mixed models

Por Vynck, Matthijs, Vandesompele, Jo, Nijs, Nele, Menten, Björn, De Ganck, Ariane, Thas, Olivier
Publicado no Biomol Detect Quantif (2016)

Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples

Por Menten, Björn, Swerts, Katrien, Chiaie, Barbara Delle, Janssens, Sandra, Buysse, Karen, Philippé, Jan, Speleman, Frank
Publicado em 2009

Mapping biomedical concepts onto the human genome by mining literature on chromosomal aberrations

Por Van Vooren, Steven, Thienpont, Bernard, Menten, Björn, Speleman, Frank, Moor, Bart De, Vermeesch, Joris, Moreau, Yves
Publicado em 2007

Anti-NMDA-receptor encephalitis in a 3 year old patient with chromosome 6p21.32 microdeletion including the HLA cluster

Por Verhelst, Helene, Verloo, Patrick, Dhondt, Karlien, De Paepe, Boel, Menten, Björn, Dalmau, Josep, Van Coster, Rudy
Publicado em 2010

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 no Sci Rep (2016)

LNCipedia: a database for annotated human lncRNA transcript sequences and structures

Por Volders, Pieter-Jan, Helsens, Kenny, Wang, Xiaowei, Menten, Björn, Martens, Lennart, Gevaert, Kris, Vandesompele, Jo, Mestdagh, Pieter
Publicado em 2013

Performance of a TthPrimPol-based whole genome amplification kit for copy number alteration detection using massively parallel sequencing

Por Deleye, Lieselot, De Coninck, Dieter, Dheedene, Annelies, De Sutter, Petra, Menten, Björn, Deforce, Dieter, Van Nieuwerburgh, Filip
Publicado no Sci Rep (2016)

BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment

Por Boel, Annekatrien, Steyaert, Woutert, De Rocker, Nina, Menten, Björn, Callewaert, Bert, De Paepe, Anne, Coucke, Paul, Willaert, Andy
Publicado no Sci Rep (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 no Prenat Diagn (2016)

Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability

Por Vergult, Sarah, Dheedene, Annelies, Meurs, Alfred, Faes, Fran, Isidor, Bertrand, Janssens, Sandra, Gautier, Agnès, Le Caignec, Cédric, Menten, Björn
Publicado no Eur J Hum Genet (2015)

Nonsyndromic bilateral and unilateral optic nerve aplasia: first familial occurrence and potential implication of CYP26A1 and CYP26C1 genes

Por Meire, Françoise, Delpierre, Isabelle, Brachet, Cecile, Roulez, Françoise, Van Nechel, Christian, Depasse, Fanny, Christophe, Catherine, Menten, Björn, De Baere, Elfride
Publicado em 2011

A link between host plant adaptation and pesticide resistance in the polyphagous spider mite Tetranychus urticae

Por Dermauw, Wannes, Wybouw, Nicky, Rombauts, Stephane, Menten, Björn, Vontas, John, Grbić, Miodrag, Clark, Richard M., Feyereisen, René, Van Leeuwen, Thomas
Publicado em 2013

Combined subtractive cDNA cloning and array CGH: an efficient approach for identification of overexpressed genes in DNA amplicons

Por De Preter, Katleen, Pattyn, Filip, Berx, Geert, Strumane, Kristin, Menten, Björn, Van Roy, Frans, De Paepe, Anne, Speleman, Frank, Vandesompele, Jo
Publicado em 2004

Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12

Por Menten, Björn, Buysse, Karen, Vermeulen, Stefan, Meersschaut, Valerie, Vandesompele, Jo, Ng, Bee L., P.Carter, Nigel, Mortier, Geert R., Speleman, Frank
Publicado em 2007

Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions

Por Vergult, Sarah, Krgovic, Danijela, Loeys, Bart, Lyonnet, Stanislas, Liedén, Agne, Anderlid, Britt-Marie, Sharkey, Freddie, Joss, Shelagh, Mortier, Geert, Menten, Björn
Publicado em 2011

Nasal speech in patients with 12q15 microdeletions

Por Vergult, Sarah, Krgovic, Danijela, Loeys, Bart, Lyonnet, Stanislas, Liedén, Agne, Anderlid, Britt-Marie, Sharkey, Freddie, Joss, Shelagh, Mortier, Geert, Menten, Björn
Publicado em 2012

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 no Orphanet J Rare Dis (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 no PLoS One (2014)

Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development

Por Baetens, Dorien, Mladenov, Wilhelm, Delle Chiaie, Barbara, Menten, Björn, Desloovere, An, Iotova, Violeta, Callewaert, Bert, Van Laecke, Erik, Hoebeke, Piet, De Baere, Elfride, Cools, Martine
Publicado no Orphanet J Rare Dis (2014)