Area of research
Molecular Biology · Genetics
Research interest
Research interests include Genetics and Neurodevelopmental Disorders, CRISPR and Genetic Engineering, Peroxisome Proliferator-Activated Receptors, and Genomics and Rare Diseases.
Very-long-chain fatty acids induce glial-derived sphingosine-1-phosphate synthesis, secretion, and neuroinflammation
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases
Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures
Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling
De novo variants in <i>EMC1</i> lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in <i>Drosophila</i>
Phosphatidylserine synthase plays an essential role in glia and affects development, as well as the maintenance of neuronal function
<i>De novo FZR1</i> loss-of-function variants cause developmental and epileptic encephalopathies
Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms
De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy
An efficient CRISPR-based strategy to insert small and large fragments of DNA using short homology arms
Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature
IRF2BPL Is Associated with Neurological Phenotypes
Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts
Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3