Area of research
Genetics · Molecular Biology
Research interest
Research interests include Biology, Genetics, Intellectual disability, Missense mutation, Exome sequencing, and Epigenetics.
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants
Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis
A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability