Area of research
Genetics · Cellular and Molecular Neuroscience
Research interest
Research focused on Genetics and Exome sequencing, with related work in Phosphatidylethanolamine, Microcephaly, Situs inversus. Notable publications include 'Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies', 'A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis', and 'PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment'.
MNS1 variant associated with situs inversus and male infertility
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment
A mutation of<i>EPT1 (SELENOI)</i>underlies a new disorder of Kennedy pathway phospholipid biosynthesis