Taylor Group

Dr Alistair Pagnamenta

Still from WTCHG video

Post-doctoral researcher


Wellcome Trust Centre for Human Genetics, Roosevelt Dr.
Oxford, OX3 7BN


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?].

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

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.  Pagnamenta AT, Murakami Y, Taylor JM, Anzilotti C, Howard MF, Miller V, Johnson DS, Tadros S, Mansour S, Temple IK, Firth R, Rosser E, Harrison RE, Kerr B, Popitsch N; DDD Study, Kinoshita T, Taylor JC, Kini U.  Eur J Hum Genet. 2017 Jun;25(6):669-679. PMID: 28327575

Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.  Broix L, Jagline H, Ivanova E, Schmucker S, Drouot N, Clayton-Smith J, Pagnamenta AT, Metcalfe KA, Isidor B, Louvier UW, Poduri A, Taylor JC, Tilly P, Poirier K, Saillour Y, Lebrun N, Stemmelen T, Rudolf G, Muraca G, Saintpierre B, Elmorjani A; Deciphering Developmental Disorders study, Moïse M, Weirauch NB, Guerrini R, Boland A, Olaso R, Masson C, Tripathy R, Keays D, Beldjord C, Nguyen L, Godin J, Kini U, Nischké P, Deleuze JF, Bahi-Buisson N, Sumara I, Hinckelmann MV, Chelly J. Nat Genet. 2016 Nov;48(11):1349-1358. PMID: 2769496

A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.  Lange L, Pagnamenta AT, Lise S, Clasper S, Stewart H, Akha ES, Quaghebeur G, Knight SJ, Keays DA, Taylor JC, Kini U. Clin Genet. 2016 Sep;90(3):258-62. PMID: 26954065

Martin H.C., Kim G.E., Pagnamenta A.T., Murakami Y., Carvill G., Meyer E., Copley R.R., Rimmer A., Barcia G., Fleming M., Kronengold J., Brown M.R., Hudspith K.A., Broxholme J., Kanapin A., Cazier J.B., Kinoshita T., Nabbout R., The WGS500 Consortium, Bentley D., McVean G., Heavin S., Zaiwalla Z., McShane T., Mefford H., Shears D., Stewart H., Kurian M.A., Scheffer I.E., Blair E., Donnelly P., Kaczmarek L.K. and Taylor J.C. Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. Hum Mol Genet (2014). PMID: 24463883

Howard M.F., Murakami Y., Pagnamenta A.T., Daumer-Haas C., Fischer B., Hecht J., Keays D.A., Knight S.J., Kölsch U., Krüger U., Leiz S., Maeda Y., Mitchell D., Mundlos S., Phillips J.A. 3rd, Robinson P.N., Kini U., Taylor J.C., Horn D., Kinoshita T. and Krawitz P.M. Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation. Am J Hum Genet 94:278-287 (2014). PMID: 24439110