Area of research
Genetics · Hematology
Research interest
Research interests include Genetics, Biology, Epilepsy, Transfer RNA, Neurodevelopmental disorder, and Characterization (materials science).
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder
Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder
Mutations in <i>HECW2</i> are associated with intellectual disability and epilepsy
1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency
Molecular and clinical characterization of 25 individuals with exonic deletions of <i>NRXN1</i> and comprehensive review of the literature
A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features
Duplication 16p13.3 and the CREBBP gene: Confirmation of the phenotype