Claudia Ruivenkamp
A5083172924- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Chromosomal and Genetic Variations
- Genetic Syndromes and Imprinting
- Congenital heart defects research
- Prenatal Screening and Diagnostics
- Epigenetics and DNA Methylation
- RNA modifications and cancer
- Genetic factors in colorectal cancer
- Growth Hormone and Insulin-like Growth Factors
- Genomics and Chromatin Dynamics
- Chromatin Remodeling and Cancer
- Autism Spectrum Disorder Research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Cancer Genomics and Diagnostics
- Congenital limb and hand anomalies
- Cancer-related gene regulation
- Cardiac Valve Diseases and Treatments
- Ocular Oncology and Treatments
- Neurogenetic and Muscular Disorders Research
- Immunodeficiency and Autoimmune Disorders
- Cardiomyopathy and Myosin Studies
- RNA Research and Splicing
- Peptidase Inhibition and Analysis
Leiden University
2014-2025
Leiden University Medical Center
2016-2025
Amsterdam University Medical Centers
2024
Guy's Hospital
2022
Great Ormond Street Hospital for Children NHS Foundation Trust
2022
University College London
2022
Guy's and St Thomas' NHS Foundation Trust
2022
University of Southern Denmark
2021
Filadelfia
2021
Maastricht University
2021
Abstract AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca 2+ -impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients intellectual disability (ID) neurodevelopmental...
To determine the phenotypic spectrum caused by mutations in GRIN1 encoding NMDA receptor subunit GluN1 and to investigate their underlying functional pathophysiology.We collected molecular clinical data from several diagnostic research cohorts. Functional consequences of were investigated Xenopus laevis oocytes.We identified heterozygous de novo 14 individuals reviewed phenotypes all 9 previously reported patients. These 23 presented with a distinct phenotype profound developmental delay,...
Genomic disorders are often caused by non-allelic homologous recombination between segmental duplications. Chromosome 16 is especially rich in a chromosome-specific low copy repeat, termed LCR16.A bacterial artificial chromosome (BAC) array comparative genome hybridisation (CGH) screen of 1027 patients with mental retardation and/or multiple congenital anomalies (MR/MCA) was performed. The BAC CGH identified five deletions and apparently reciprocal duplications 16p13 covering 1.65 Mb,...
Chromothripsis represents a novel phenomenon in the structural variation landscape of cancer genomes. Here, we analyze genomes ten patients with congenital disease who were preselected to carry complex chromosomal rearrangements more than two breakpoints. The displayed unanticipated complexity resembling chromothripsis. We find that eight them contain hallmarks multiple clustered double-stranded DNA breaks (DSBs) on one or chromosomes. In addition, nucleotide resolution analysis 98...
Although the benefits of next-generation sequencing (NGS) for diagnosis heterogeneous diseases such as intellectual disability (ID) are undisputed, there is little consensus on relative merits targeted enrichment, whole-exome (WES) or whole-genome (WGS). To answer this question, WES and WGS data from same nine samples were compared, was shown not to miss any variants identified by in a gene panel including ∼500 genes linked ID (500GP). Additionally, deeply sequenced adequately cover ∼99%...
<h3>Aim</h3> To determine whether BAP1 gene and protein expression associates with different prognostic parameters in uveal melanoma correctly identifies patients as being at risk for metastases, following enucleation of the primary tumour. <h3>Methods</h3> Thirty cases obtained by between 1999 2004 were analysed a variety markers, including histological characteristics, chromosome aberrations fluorescence situ hybridisation (FISH) single nucleotide polymorphism (SNP) analysis profiling....
<h2>ABSTRACT</h2><h3>Purpose</h3> Pathogenic variants in ARID1B are one of the most frequent causes intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin–Siris patients (ARID1B-CSS) and it is unclear whether these data representative for identified through unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic phenotypic differences between ARID1B-ID ARID1B-CSS. In...
Background Uveal melanoma (UM) development and progression is correlated with specific molecular changes. Recurrent mutations in GNAQ GNA11 initiate UM while tumour monosomy of chromosome 3 gain 8q. Hence, analysis useful for diagnosis prognosis. The aim this study to evaluate the use digital PCR (dPCR) UM. Methods A series 66 was analysed dPCR three hotspot GNAQ/GNA11 mutation probes. status chromosomes 8 were genomic results cross-validated Sanger sequencing, SNP array analysis,...
Purpose: The American Joint Committee on Cancer (AJCC) staging system has been validated for use as a prognostic parameter in uveal melanoma (UM). We studied whether adding information regarding chromosome 3 and 8q status further enhances the value of this system. Methods: retrospectively cohort 522 patients who had treated UM two different centers between 1999 2015. mean follow-up time was 47.7 months. Cumulative incidence curves were generated regression analyses performed combinations...