Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Congenital heart defects research, and Genomic variations and chromosomal abnormalities.
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
De novo loss-of-function variants of ASH1L are associated with an emergent neurodevelopmental disorder
A recurrent mutation in <i>KCNA2</i> as a novel cause of hereditary spastic paraplegia and ataxia
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant
7q11.23 Duplication syndrome: Physical characteristics and natural history