Area of research
Genetics · Developmental and Educational Psychology
Research interest
Research interests include Hearing Impairment and Communication, RNA modifications and cancer, Genomics and Rare Diseases, and Genomic variations and chromosomal abnormalities.
RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease cases
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Xq28 duplication overlapping the <i>int22h‐1/int22h‐2</i> region and including <i>RAB39B</i> and <i>CLIC2</i> in a family with intellectual and developmental disability