Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, and RNA regulation and disease.
An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing
KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features