Area of research
Genetics · Molecular Biology
Research interest
Research focused on Telomere and Telomerase, with related work in Phenotype, Deep brain stimulation, Attention deficit hyperactivity disorder. Notable publications include 'Diagnostic utility of telomere length testing in a hospital-based setting', 'Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis–emphysema', and 'Short telomere syndromes cause a primary T cell immunodeficiency'.
A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants
The Role of Genetic Testing in Pulmonary Fibrosis
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
Diagnostic utility of telomere length testing in a hospital-based setting
Short telomere syndromes cause a primary T cell immunodeficiency
Loss-of-function mutations in the RNA biogenesis factor <i>NAF1</i> predispose to pulmonary fibrosis–emphysema
Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype