Daphne M. van Beek
A5056480934- Cancer Genomics and Diagnostics
- BRCA gene mutations in cancer
- Genetic factors in colorectal cancer
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Parvovirus B19 Infection Studies
- Prenatal Screening and Diagnostics
- Fetal and Pediatric Neurological Disorders
- Congenital heart defects research
- RNA Research and Splicing
- vaccines and immunoinformatics approaches
- Monoclonal and Polyclonal Antibodies Research
- PARP inhibition in cancer therapy
- Immunotherapy and Immune Responses
- RNA and protein synthesis mechanisms
- RNA regulation and disease
- Genomics and Phylogenetic Studies
- Multiple and Secondary Primary Cancers
Hartwig Medical Foundation
2023-2024
Amsterdam UMC Location VUmc
2014-2017
University Medical Center
2014
University Hospital and Clinics
2014
Hypomyelinating disorders of the central nervous system are still a diagnostic challenge, as many patients remain without genetic diagnosis. Using magnetic resonance imaging (MRI) pattern recognition and whole exome sequencing, we could ascertain compound heterozygous mutations in RARS 4 with hypomyelination. Clinical features included severe spasticity nystagmus. encodes cytoplasmic arginyl‐tRNA synthetase, an enzyme essential for RNA translation. This protein is among subunits...
To compare available analysis methods for determining fetal fraction on single read next generation sequencing data. This is important as the performance of non-invasive prenatal testing (NIPT) procedures depends DNA.We tested six different detection in NIPT samples. The same clinically obtained data were used all methods, allowing us to assess effect test result, and investigate use quality control.We show that non-NIPT based body mass index (BMI) gestational age are unreliable predictors...
Abstract In the Drug Rediscovery Protocol (DRUP), patients with cancer are treated based on their tumor molecular profile approved targeted and immunotherapies outside labeled indication. Importantly, undergo a biopsy for whole‐genome sequencing (WGS) which allows WGS‐based evaluation of routine diagnostics. Notably, we observed that not all biopsies dMMR/MSI‐positive tumors as determined by diagnostics were classified microsatellite‐unstable subsequent WGS. Therefore, aimed to evaluate...
Abstract Purpose Genome sequencing (GS) enables comprehensive molecular analysis of tumours and identification hereditary cancer predisposition. According to guidelines, directly determining pathogenic germline variants (PGVs) requires pre-test genetic counselling, which is cost-ineffective. Referral for counselling based on tumour alone could miss relevant PGVs and/or result in unnecessary referrals. Methods We validated GS detection simulated three strategies using paired tumour-normal...