Area of research
Genetics · Clinical Biochemistry
Research interest
Research focused on Genetics and Missense mutation, with related work in Autophagy, Epithelial cell adhesion molecule, Wasting. Notable publications include 'Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy', 'EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome', and 'A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome'.
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome
<i>EPCAM</i>mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome
<i>MPV17</i>-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects
Human genome meeting 2016
Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy
Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia