Genetics Retreat

Prize winners

Heleen Masset (KU Leuven, Belgium) 'Combining time-lapse imaging and genome-wide haplotyping reveals novel mechanisms underlying chimerism, mixoploidy and aneuploidy formation in human preimplantation embryos'
Romy Mesman (LUMC Leiden) 'Functional characterization of variants of uncertain significance in BRCA2 to unmask their pathogenicity'
Lot Snijders Blok (Radboudumc Nijmegen) 'De novo mutations in MED13, part of the CDK8-submodule of the Mediator complex, cause intellectual disability with speech problems and eye movement disorders'

Glen Monroe (UMC Utrecht) 'Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus and obesity'
Myrthe Jager (UMC Utrecht) 'The role of nucleotide excision repair in genomic integrity of adult mouse liver stem cells'
Parveen Kumar (University of Leuven) 'Tracing the origin of disseminated tumor cells in breast cancer using single-cell sequencing'

Mirjam de Pagter (UMC Utrecht) 'Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring'
Sietske Kevelam (VUmc Amsterdam) 'PLP1 mutations affecting PLP1/DM20 alternative splicing causes Hypomyelination of Early Myelinating Structures'
Robin Verjans (Maastricht University) 'Identification of MicroRNAs Regulating Heart Failure: A Phenotypical High-Throughput Screening Approach'

Sara Pulit (UMC Utrecht) 'Genome-wide significance in the sequencing era'.
Savitha Nageshappa (KU Leuven, Belgium) 'Induced pluripotent stem cells for the development of a patient-specific disease model for neurodevelopmental disorder'
Jessica van Setten (UMC Utrecht) (poster) 'Genome of the Netherlands imputation identifies seven new loci for quantitative ECG traits in meta-analysis of 30,000 samples'

Wybrich Cnossen (Radboudumc, Nijmegen) 'Identification of a novel gene associated with polycystic liver and kidney diseases'
Julie Rutten (LUMC Leiden) 'Cysteine quantity correction in CADASIL; modification of the NOTCH3 protein using antisense oligonucleotides'
Patrick Deelen (UMC Groningen) 'Imputation benchmarking of the Genome of the Netherlands'

Veerle Eggens (AMC-UvA Amsterdam) 'CLK2 missense mutation in a family with pontocerebellar hypoplasia type 7'
Harm-Jan Westra (UMC Groningen) 'eQTL meta-analysis on 5,311 samples unravels novel disease pathways'
Mireille Schaap (LUMC Leiden) 'Analysis of worldwide tandem repeat copy number variation of eight macrosatellite repeats'

Yasmin Namavar (AMC Amsterdam) 'The role of the tRNA splicing endonuclease in Pontocerebellar Hypoplasia'
Evelyn Kouwenhoven (Radboudumc, Nijmegen) 'Beyond the open reading frame: Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus'
Katja Ritz (AMC Amsterdam) 'Looking ultra deep: short homologous sequences and transcriptional slippage'

Guus van den Akker (Maastricht University) 'Egr1 & Chondrogenesis'
Peter van den Akker (UMC Groningen) 'Unusual phenotype-genotype correlations in recessive dystrophic epidermolysis bullosa'
Katja Ritz (AMC Amsterdam) 'Alternative splicing of epsilon-sarcoglycan in Myoclonus-Dystionia'

Jacobine Buizer-Voskamp (UMC Utrecht) 'Schizophrenia and chromosomal aberrations: in search of susceptibility genes'

Jorieke Bergman (UMC Groningen) 'Study of anosmia and hypogonadotropic hypogonadism in a mouse model for CHARGE syndrome'

Josien Levenga (Erasmus MC Rotterdam) 'The role of Fragile X mental retardation protein in dendritic mRNA transport and translation'

Ellen Jeninga (UMC Utrecht) 'A PPARy mutation (R425C) in a patient with FPL impairs transcriptional activity at multiple levels'

Sandra van ‘t Padje (Erasmus MC Rotterdam) 'Zebrafish; a complementary model system to study FXR1P function'