Quinten Waisfisz
A5033445559- DNA Repair Mechanisms
- BRCA gene mutations in cancer
- Cancer Immunotherapy and Biomarkers
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Genetic Associations and Epidemiology
- Genetics and Neurodevelopmental Disorders
- Immunotherapy and Immune Responses
- RNA regulation and disease
- Single-cell and spatial transcriptomics
- Genomics and Chromatin Dynamics
- Cancer Genomics and Diagnostics
- Acute Myeloid Leukemia Research
- RNA modifications and cancer
- CRISPR and Genetic Engineering
- Carcinogens and Genotoxicity Assessment
- Epigenetics and DNA Methylation
- Genetic factors in colorectal cancer
- Porphyrin Metabolism and Disorders
- RNA Research and Splicing
- CAR-T cell therapy research
- Pulmonary Hypertension Research and Treatments
- Metabolism and Genetic Disorders
- Renal and related cancers
- Bioinformatics and Genomic Networks
Vrije Universiteit Amsterdam
2013-2025
Amsterdam University Medical Centers
2018-2025
University of Amsterdam
1995-2025
Sorbonne Université
2023
Western University
2023
Pitié-Salpêtrière Hospital
2023
Amsterdam Neuroscience
2015-2022
Amsterdam UMC Location Vrije Universiteit Amsterdam
2011-2021
University Medical Center
2000-2019
The University of Melbourne
2014-2019
Fanconi anemia (FA) is a rare autosomal recessive cancer susceptibility disorder characterized by cellular hypersensitivity to mitomycin C (MMC). Six FA genes have been cloned, but the gene or corresponding subtypes B and D1 remain unidentified. Here we show that cell lines derived from FA-B FA-D1 patients biallelic mutations in BRCA2 express truncated proteins. Functional complementation of fibroblasts with wild-type complementary DNA restores MMC resistance. Our results link six cloned...
Genetic variations, such as single nucleotide polymorphisms (SNPs) in microRNAs (miRNA) or the miRNA binding sites may affect dependent gene expression regulation, which has been implicated various cancers, including breast cancer, and alter individual susceptibility to cancer. We investigated associations between related SNPs cancer risk. First we evaluated 2,196 a case-control study combining nine genome wide association studies (GWAS). Second, further 42 with suggestive evidence for using...
Copy number changes and CpG methylation of various genes are hallmarks tumor development but not yet widely used in diagnostic settings. The recently developed multiplex ligation-dependent probe amplification (MLPA) method has increased the possibilities for detection gene copy aberrations a routine laboratory. Here we describe novel robust method: methylation-specific MLPA (MS-MLPA) that can detect both as well up to 40 chromosomal sequences simple reaction. In MS-MLPA, ligation...
Abstract Purpose: In CD34-positive acute myeloid leukemia (AML), the leukemia-initiating event originates from CD34+CD38− stem cell compartment. Survival of these cells after chemotherapy may lead to minimal residual disease (MRD) and subsequently relapse. Therefore, prognostic impact frequency in AML was investigated. Experimental Design: First, leukemogenic potential unpurified cells, present among other investigated vivo using nonobese diabetic/severe combined immunodeficient mice...
Pulmonary arterial hypertension (PAH) is a rare disorder with poor prognosis. Deleterious variation within components of the transforming growth factor-β pathway, particularly bone morphogenetic protein type 2 receptor (BMPR2), underlies most heritable forms PAH. To identify missing heritability we perform whole-genome sequencing in 1038 PAH index cases and 6385 PAH-negative control subjects. Case-control analyses reveal significant overrepresentation variants ATP13A3, AQP1 SOX17, provide...
Differentiated mammary epithelium shows apicobasal polarity, and loss of tissue organization is an early hallmark breast carcinogenesis. In BRCA1 mutation carriers, accumulation stem progenitor cells in normal increased risk developing tumors basal-like type suggest that regulates stem/progenitor cell proliferation differentiation. However, the function this process its link to carcinogenesis remain unknown. Here we depict a molecular mechanism involving RHAMM polarity and, when perturbed,...
Plastin 3 (PLS3), a protein involved in the formation of filamentous actin (F-actin) bundles, appears to be important human bone health, on basis pathogenic variants PLS3 five families with X-linked osteoporosis and osteoporotic fractures that we report here. The bone-regulatory properties were supported by vivo analyses zebrafish. Furthermore, an additional (described less detail) referred for diagnosis or ruling out osteogenesis imperfecta type I, rare variant (rs140121121) was found. This...
CHEK2*1100delC is a well-established breast cancer risk variant that most prevalent in European populations; however, there are limited data on of by age and tumor subtype, which limits its usefulness prediction. We aimed to generate subtype- age-specific estimates using from the Breast Cancer Association Consortium, including 44,777 patients with 42,997 controls 33 studies genotyped for CHEK2*1100delC.
Hypomyelination with atrophy of the basal ganglia and cerebellum is a rare leukoencephalopathy that was identified using magnetic resonance imaging in 2002. In 2013, whole exome sequencing 11 patients disease revealed they all had same de novo mutation TUBB4A, which encodes tubulin β-4A. We investigated spectrum cohort 42 relationship between genotype phenotype. Patients were selected on basis clinical abnormalities are indicative hypomyelination cerebellum. Genetic testing inventory...
To characterize the clinical and MRI features of 2 families with adult-onset dominant leukoencephalopathy strokes identify underlying genetic cause.We applied pattern recognition, whole-exome sequencing, neuropathology.Based on brain imaging, 13 family members 40 years or older from were diagnosed disease; in 11 same age, was normal. In affected members, showed a that disproportionately severe compared to disease. The picture dominated by ischemic hemorrhagic strokes, slow late cognitive...
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...