Since joining the Oxford BRC in 2010, I‘ve been involved with a wide range of studies ranging from learning disability to pharmacogenomics. I have been in the sequencing and experimental follow-up team for the WGS500 project and subsequently a data analyst for a clinical exome sequencing project and ongoing HICF2 WGS sequencing programme [hyperlinks?]. More recently I have been involved with analysis of data generated as part of the 100K genomes project as part of the paediatric and musculoskeletal GeCIPs.
Current interests include the genetics of epilepsy and structural brain malformations, de novo mutations in adolescent schizophrenia and the GPI anchor biosynthesis pathway. A significant proportion of our work relates to uncovering causative mutations using NGS analysis of either i) parent-parent-child trios or ii) consanguineous families. Recent studies using these methods helped uncover PGAP3 as a new disease gene for learning disability and hyperphosphatasia and a collaboration with the DDD project showed more broadly that GPI-anchor biogenesis defects are a rare cause of developmental disorder. Other interests include the analysis of structural variation using NGS data, UPD and genetic mosaicism. Previously I worked on autism genetics with Professor Anthony Monaco and on mitochondrial disorders with Dr Jan-Willem Taanman and Dr Shamima Rahman.
Conclusion of diagnostic odysseys due to inversions disruptingGLI3andFBN1
Pagnamenta AT. et al, (2022), Journal of Medical Genetics
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Loong L. et al, (2022), Genetics in medicine : official journal of the American College of Medical Genetics
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.
Saida K. et al, (2022), Genetics in medicine : official journal of the American College of Medical Genetics
The Bartter-Gitelman Spectrum: Fifty Year Follow-up with Revision of Diagnosis after Whole Genome Sequencing
Stevenson M. et al, (2022), Journal of the Endocrine Society
Beyond founder and truncting variants in TECPR2-associated disorder
Neuser S. et al, (2022), EUROPEAN JOURNAL OF HUMAN GENETICS, 30, 254 - 255