Area of research
Genetics · Pediatrics, Perinatology and Child Health
Research interest
Research interests include Genomic variations and chromosomal abnormalities, Genetic Syndromes and Imprinting, Prenatal Screening and Diagnostics, and Genetics and Neurodevelopmental Disorders.
PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia
De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy
Congenital microcephaly and chorioretinopathy due to de novo heterozygous <i>KIF11</i> mutations: Five novel mutations and review of the literature
Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria
Deletion 16p13.11 uncovers <i>NDE1</i> mutations on the non‐deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption
Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome