Belgian Society for Human Genetics


17th annual BeSHG meeting: human genetics goes somatic

Louvain-la-Neuve, Aula Magna

Friday, 17 february 2017

abstract book       poster       flyer      

08.30-09.45 Registrationcoffee & pastries (Hall)
09.45-10.00 Opening remarksPaul Coucke (Theatre)
10.00-11.40Morning sessionchair: Thomy de Ravel & Jean-Baptiste Demoulin (Theatre)
Lucy GodleyInherited predisposition to hematopoietic malignancies
Marcel JonkmanRevertant mosaicism in human skin disease
11.45-12.45 Parallel Session IAchair: Cécile Libioulle & Nisha Limaye (Theatre)
Florence ArtsPDGFRB mutations cause infantile myofibromatosis
Romain PéanneATP6AP2-CDG: Identification using whole exome sequencing of a new subtype of v-ATPase assembly defects causing liver disease
Miriam BauwensHidden genetic variation in Stargardt disease: novel copy number variations, cis-regulatory and deep-intronic splice variants within the ABCA4 locus
Bieke DecaestekerSOX11 acts as part of the MYCN-WEE1 regulatory protein complex implicated in neuroblastoma
11.45-12.45 Parallel Session IBchair: Lut Van Laer & Anabelle Decottignies (Foyer Royal)
Kris VleminckxModeling human hereditary cancer syndromes using CRISPR/Cas9 mediated genome editing in Xenopus tropicalis
Siebe LoontiensScrutinizing PHF6 regulatory networks using zebrafish
Gretl HendrickxConditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis
Olga TšuikoIn vitro procedures exacerbate chromosome instability in cleavage-stage embryos
12.45-14.00 Lunch + poster viewing + sponsor support (Hall)
14.00-14.40 Annual General Assembly BeSHG (Theatre)
14.40-15.55 Parallel Session IIAchair: Sonia Van Dooren & Pascal Brouillard (Theatre)
Hilde Brems for MultiplicomSomatic Mosaicism in Genodermatoses
Simon ArduiDetecting AGG interruptions in male and female FMR1 premutation carriers by single-molecule sequencing
Koen TheunisCost effective DNA copy number profiling of single cells without upfront whole-genome amplification
Annelies DheedeneDetection of copy number variation using shallow whole genome sequencing (CNVseq) as a cost-effective alternative to genomic microarrays
Antonio ColapricoTCGAbiolinksGUI: A graphical user interface to analyze cancer molecular and clinical data
14.40-15.55 Parallel Session IIBchair: Damien Lederer & Anne De Leener (Foyer Royal)
Geert MortierEvidence that bi-allelic mutations in NPR3 result in a peculiar phenotype with tall stature, arachnodactyly, long halluces and multiple extra epiphyses in hands and feet
Josephina MeesterLoss-of-function mutations in the X-linked gene BGN cause a severe syndromic form of thoracic aortic aneurysms and dissections
Bert CallewaertMutations in ATP6V1E1 or ATP6V1A cause autosomal recessive cutis laxa
Nele CosemansThe clinical relevance of intragenic NRXN1 deletions
Danya VearsWhich next generation sequencing results are reported to clinicians? A qualitative study
15.55-16.15 Coffee break (Hall)
16.15-18.15 Evening sessionchair: Paul Coucke & Miikka Vikkula (Theatre)
16.15-17.05Vincent BlomenUncovering genetic interactions in haploid human cells
17.05-17.55Peter CampbellInterrogating the architecture of cancer genomes
17.55-18.15 Prizes and Closing remarks Miikka Vikkula (Theatre)
18.15-19.15 Reception (Hall)
19.15-00.00 Walking dinner and party (optional for registrants) (Foyer du Lac)


Paul Coucke, President
Catheline Vilain, Secretary
Lut Van Laer, Treasurer