Contact information
Alistair Pagnamenta
Post-doctoral researcher
Work summary
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.
Recent publications
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CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.
Journal article
Oppermann H. et al, (2023), Eur J Hum Genet
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Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn.
Journal article
Efthymiou S. et al, (2023), Annals of clinical and translational neurology
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Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.
Journal article
Moore AR. et al, (2023), Journal of medical genetics
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Genome sequencing identifies KMT2E-disrupting cryptic structural variant in a female with O'Donnell-Luria-Rodan syndrome.
Journal article
Hashim M. et al, (2023), Clinical genetics
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A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and SRRM2 Haploinsufficiency
Journal article
Pagnamenta AT. et al, (2023), Human Mutation, 2023, 1 - 9