Luiza Ramos
A5106720918- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Epilepsy research and treatment
- Genetic factors in colorectal cancer
- Nuclear Receptors and Signaling
- RNA Research and Splicing
- Lipid Membrane Structure and Behavior
- RNA modifications and cancer
- Autism Spectrum Disorder Research
- Sphingolipid Metabolism and Signaling
- Chromatin Remodeling and Cancer
- Amino Acid Enzymes and Metabolism
- Thyroid and Parathyroid Surgery
- Cellular transport and secretion
- Metabolism and Genetic Disorders
- Glycogen Storage Diseases and Myoclonus
- RNA regulation and disease
- Mitochondrial Function and Pathology
Vlaams Instituut voor Biotechnologie
2024
University of Antwerp
2022-2024
VIB-UAntwerp Center for Molecular Neurology
2022-2024
Medical University of Sofia
2024
Mendelics
2019-2022
Genomic (Brazil)
2019-2022
Universidade de São Paulo
2022
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
2020
Autism spectrum disorder (ASD) represents a group of neurodevelopmental phenotypes with strong genetic component. An excess likely gene-disruptive (LGD) mutations in GIGYF1 was implicated ASD. Here, we report that is the second-most mutated gene among known ASD high-confidence risk genes. We investigated inheritance 46 LGD variants, including highly recurrent mutation c.333del:p.L111Rfs*234. Inherited heterozygous variants were 1.8 times more common than de novo mutations. Among individuals...
The maintenance of lipid asymmetry on the plasma membrane is regulated by flippases, such as ATP8A2, ATP11A, and ATP11C, which translocate phosphatidylserine phosphatidylethanolamine from outer leaflet to inner leaflet. We previously identified a patient-derived point mutation (Q84E) in ATP11A at phospholipid entry site, acquired ability flip phosphatidylcholine (PtdCho). This led elevated levels sphingomyelin (SM) membrane. herein present two de novo dominant mutations (E114G S399L)...
Abstract Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed number monogenic origins opened the door to therapeutic hopes. Here we describe new syndromic developmental encephalopathy caused by bi-allelic loss-of-function variants in GAD1, as presented 11 patients from six independent consanguineous families. Seizure onset occurred first 2 months life all...
The blood-brain barrier ensures CNS homeostasis and protection from injury. Claudin-5 (CLDN5), an important component of tight junctions, is critical for the integrity barrier. We have identified de novo heterozygous missense variants in CLDN5 15 unrelated patients who presented with a shared constellation features including developmental delay, seizures (primarily infantile onset focal epilepsy), microcephaly recognizable pattern pontine atrophy brain calcifications. All clustered one...
Recognition of a de novo mutation in NR4A2 associated with neurodevelopmental phenotype reinforces its role 2q23q24 microdeletion syndrome. Using the proband WES data and probability loss-of-function intolerance index (pLi) set at 1.0 (highest constraint), we could target as candidate gene this patient.
ATP6V1B2 encodes a subunit of the lysosomal transmembrane proton pump necessary for adequate functioning several acid hydrolases. De novo monoallelic variants this gene have been associated with two distinct phenotypes: Zimmermann-Laband syndrome 2 (ZLS2), an intellectual deficiency/multiple malformation syndrome, and dominant deafness onychodystrophy (DDOD), multiple without cognitive involvement. Epilepsy is not observed in DDOD, variably present ZLS2, but common feature 1 (ZLS1) (caused...