R. Frank Kooy
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Autism Spectrum Disorder Research
- Genomics and Rare Diseases
- Congenital heart defects research
- RNA modifications and cancer
- Epigenetics and DNA Methylation
- Ubiquitin and proteasome pathways
- Chromosomal and Genetic Variations
- Genomics and Chromatin Dynamics
- Prenatal Screening and Diagnostics
- RNA regulation and disease
- RNA Research and Splicing
- Peptidase Inhibition and Analysis
- Cancer Genomics and Diagnostics
- Chromatin Remodeling and Cancer
- Genetic Neurodegenerative Diseases
- Nuclear Receptors and Signaling
- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- Trypanosoma species research and implications
- Neuroscience and Neuropharmacology Research
- Neurogenetic and Muscular Disorders Research
- RNA and protein synthesis mechanisms
- Endoplasmic Reticulum Stress and Disease
University of Antwerp
2016-2025
Antwerp University Hospital
2016-2025
deCODE Genetics (Iceland)
2024
University of Sfax
2024
University of Pavia
2024
Baylor College of Medicine
2024
Baylor Genetics
2024
VIB-UAntwerp Center for Molecular Neurology
2024
Erasmus MC
2023
Singer (United States)
2007
Fragile-X syndrome is a common form of mental retardation resulting from the inability to produce fragile-X protein. Qualitative examination human brain autopsy material has shown that patients exhibit abnormal dendritic spine lengths and shapes on parieto-occipital neocortical pyramidal cells. Similar quantitative results have been obtained in knockout mice, engineered lack Dendritic spines layer V cells temporal visual cortices stained using Golgi-Kopsch method were investigated....
<h3>Background:</h3> Recurrent 15q13.3 microdeletions were recently identified with identical proximal (BP4) and distal (BP5) breakpoints associated mild to moderate mental retardation epilepsy. <h3>Methods:</h3> To assess further the clinical implications of this novel microdeletion syndrome, 18 new probands a deletion molecularly clinically characterised. In addition, we evaluated characteristics family more between BP3 BP4. Finally, four patients duplication in BP3–BP4–BP5 region included...
Most genes associated with neurodevelopmental disorders (NDDs) were identified an excess of de novo mutations (DNMs) but the significance in case-control mutation burden analysis is unestablished. Here, we sequence 63 16,294 NDD cases and additional 62 6,211 cases. By combining these published data, assess a total 125 over 16,000 compare to nonpsychiatric controls from ExAC. We identify 48 (25 newly reported) showing significant ultra-rare (MAF < 0.01%) gene-disruptive (FDR 5%), six which...
PurposeTo assess the contribution of rare variants in genetic background toward variability neurodevelopmental phenotypes individuals with copy-number (CNVs) and gene-disruptive variants.MethodsWe analyzed quantitative clinical information, exome sequencing, microarray data from 757 probands 233 parents siblings who carry disease-associated variants.ResultsThe number likely deleterious functionally intolerant genes (“other hits”) correlated expression 16p12.1 deletion (n=23, p=0.004) autism...
AnkyrinG, encoded by the ANK3 gene, is involved in neuronal development and signaling. It has previously been implicated bipolar disorder schizophrenia association studies. Most recently, de novo missense mutations this gene were identified autistic patients. However, causative nature of these remained controversial. Here, we report inactivating Ankyrin 3 (ANK3) patients with severe cognitive deficits. In a patient borderline intelligence, attention deficit hyperactivity (ADHD), autism...
<h3>Background</h3> Chromosome 17p13.3 contains extensive repetitive sequences and is a recognised region of genomic instability. Haploinsufficiency <i>PAFAH1B1</i> (encoding LIS1) causes either isolated lissencephaly sequence or Miller–Dieker syndrome, depending on the size deletion. More recently, both microdeletions microduplications mapping to syndrome telomeric critical have been identified associated with distinct but overlapping phenotypes. <h3>Methods</h3> Genome-wide microarray...