Charlotte W. Ockeloen
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Autism Spectrum Disorder Research
- Cancer-related gene regulation
- Cleft Lip and Palate Research
- Neurogenetic and Muscular Disorders Research
- Immunodeficiency and Autoimmune Disorders
- RNA modifications and cancer
- dental development and anomalies
- Congenital limb and hand anomalies
- Genetic Syndromes and Imprinting
- Epigenetics and DNA Methylation
- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
- Tissue Engineering and Regenerative Medicine
- Cardiomyopathy and Myosin Studies
- Connective tissue disorders research
- Cellular Mechanics and Interactions
- RNA regulation and disease
- Attention Deficit Hyperactivity Disorder
- Connexins and lens biology
- Mitochondrial Function and Pathology
- Prenatal Screening and Diagnostics
Radboud University Nijmegen
2015-2025
Radboud University Medical Center
2015-2025
University Medical Center
2021-2023
Radboud Institute for Molecular Life Sciences
2015-2022
University of Amsterdam
2015
Amsterdam UMC Location University of Amsterdam
2015
Institute of Human Genetics
2015
Charité - Universitätsmedizin Berlin
2012
University of Groningen
2005
<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...
Intellectual disability (ID) is a common neurodevelopmental disorder affecting 1-3% of the general population. Mutations in more than 10% all human genes are considered to be involved this disorder, although majority these still unknown.We investigated 19 small non-consanguineous families with two five affected siblings order identify pathogenic gene variants known, novel and potential ID candidate genes. Non-consanguineous have been largely ignored identification studies as family size...
BACKGROUND: Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder with high risk for arterial, bowel, and uterine rupture, caused by heterozygous pathogenic variants in COL3A1 . The aim of this cohort study to provide further insights into the natural history vEDS describe genotype-phenotype correlations Dutch multicenter optimize patient care increase awareness disease. METHODS: Individuals throughout Netherlands were included. phenotype was charted retrospective...
<h3>Background</h3> Split-hand/foot malformation (SHFM)—also known as ectrodactyly—is a congenital disorder characterised by severe malformations of the distal limbs affecting central rays hands and/or feet. A distinct entity termed SHFLD presents with SHFM and long bone deficiency. Mouse models suggest that defect apical ectodermal ridge leads to phenotype. Although six different loci/mutations (SHFM1–6) have been associated SHFM, underlying cause in large number cases is still unresolved....
Abstract CHD8 has been reported as an autism susceptibility/intellectual disability gene but emerging evidence suggests that it additionally causes overgrowth phenotype. This study reports 27 unrelated patients with pathogenic or likely variants (25 null variants, two missense variants) and a male:female ratio of 21:6 (3.5:1, p < .01). All presented intellectual disability, 85% in the mild moderate range, had height and/or head circumference ≥2 standard deviations above mean, meeting our...
Abstract CD229 is a member of the CD150 family Ig superfamily expressed on T and B cells. Receptors this regulate cytokine production cytotoxicity lymphocytes NK The cytoplasmic tail binds to SAP, protein that defective in X-linked lymphoproliferative syndrome. To identify ligand, we generated soluble fusion containing two N-terminal extracellular domains human (CD229-Ig). CD229-Ig bound CD229-transfected cells, whereas no binding was detected cells expressing other receptors, showing...
Detailed neurobehavioural profiles are of major value for specific clinical management, but have remained underexposed in the population with intellectual disabilities (ID). This was traditionally classified based on IQ level only. Rapid advances genetics enable etiology stratification majority patients, which reduces heterogeneity. paper illustrates that can be obtained rare syndromes ID. Our main aim to study (mal)adaptive functioning Kleefstra Syndrome (KS) by comparing and contrasting...