Prize winners 2022
- Renee Salz (Radboudumc Nijmegen) 'Variant effect prediction based on custom long-read transcriptomes'
- Britt Delnoy (Maastricht University) 'Novel mRNA therapy restores GALT protein and enzyme activity in young classic galactosemia zebrafish'
- Daphne Smits (Erasmus MC Rotterdam) 'CLEC16A mislocalization and impaired interaction with the retromer underly a recessive severe neurodevelopmental disorder'
Former prize winners
- Lisanne Vervoort (KU Leuven) 'Optical Mapping of 22q11.2 Low Copy Repeats reveals structural hypervariability'
- Carmen Daems (KU Leuven) 'A20: a predisposing factor for neuropsychiatric lupus'
- Lise van Wijk (LUMC Leiden) 'Functional analysis of BRCAness in female cancers: translation to clinical applications'
- Mohamed Alimohamed (UMC Groningen) 'DNA test for translocation detection in acute leukemia using targeted locus amplification'
- Helen Roessler (UMC Utrecht) 'Efficient CrispR/Cas9-based nucleotide editing to model cardiovascular anomalies of Cantú syndrome in zebrafish'
- Michaela Bartusel (University of Cologne) 'Molecular and functional characterization of novel loci associated with orofacial clefting'
- 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'