Selected publications
Alcantara, D [...]O’Driscoll M, Mirzaa G. Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. Brain. Oct 2017
Alcantara, D [...] O’Driscoll M. SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activation. Human Molecular Genetics. Oct 2017
Bennett JT, Tan TY, Alcantara D[...]Ute Moog. Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. The American Journal of Human Genetics. March 2016
Bagheri H, Badduke C, Qiao Y, Colnaghi R, Abramowicz I, Alcantara D [...]Rajcan-Separovic E. Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis. JCI insight. March 2016
Di Donato N, Rump A, Mirzaa GM, Alcantara D, [...] Dobyns WB, O'Driscoll M. Identification and Characterisation of a Novel Constitutional PIK3CA Mutation in a Child lacking the Typical Segmental Overgrowth of “PIK3CA -Related Overgrowth Spectrum” (PROS). Human Mutation. March 2016
Alcantara D, O'Driscoll M. Congenital microcephaly. Am J Med Genet C. June 2014
Dyment D, Smith A, Alcantara D [...]Innes AM. Mutations in PIK3R1 Cause SHORT Syndrome. American Journal of Human Genetics. July 2013
McDonell L, Mirzaa G, Alcantara D [...]Boycott KM. Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. Nature Genetics. March 2013
Stiff T, Alagoz M, Alcantara D [...]Jeggo PA. Deficiency in Origin Licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome. PLoS Genet. March 2013
Rivière J, Mirzaa G, O’Roak B, Beddaoui M, Alcantara, D [...]Dobyns WB. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nature Genetics. June 2012
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