Area of research
Genetics · Immunology
Research interest
Research interests include Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, and Immunodeficiency and Autoimmune Disorders.
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
The contribution of X-linked coding variation to severe developmental disorders
<scp> <i>PPP3CA</i> </scp> truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy
Evidence for 28 genetic disorders discovered by combining healthcare and research data
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome
Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome