Area of research
Genetics · Molecular Biology
Research interest
Research focused on Genetics and Disorders of sex development, with related work in Human genetics, SOX9, Spliceosome. Notable publications include 'Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort', 'A duplication in a patient with 46, XX ovo‐testicular disorder of sex development refines the SOX9 testis‐specific regulatory region to 24 kb', and 'Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA...'.
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)
A duplication in a patient with 46,<scp>XX</scp> ovo‐testicular disorder of sex development refines the <i><scp>SOX9</scp></i> testis‐specific regulatory region to 24 kb
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort