Publications by authors named "Amanda Clarkson"

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mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.
Daphné Lehalle, Anne-Laure Mosca-Boidron, Amber Begtrup, Odile Boute-Benejean, Perrine Charles, Amanda Clarkson

J Med Genet· July 2017

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Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patients.
Guillaume Jedraszak, Bénédicte Demeer, Michèle Mathieu-Dramard, Joris Andrieux, Aline Receveur, Amanda Clarkson

Am J Med Genet A· March 2015

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A de novo duplication of Xp11.22-p11.4 in a girl with intellectual disability, structural brain anomalies, and preferential inactivation of the normal X chromosome.
Simon T Holden, Amanda Clarkson, N Simon Thomas, Kristin Abbott, Matthew R James

Am J Med Genet A· July 2010

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Derivation of pluripotent epiblast stem cells from mammalian embryos.
I Gabrielle M Brons, Lucy E Smithers, Matthew W B Trotter, Peter Rugg-Gunn, Bowen Sun, Amanda Clarkson

Nature· July 2007

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Novel deletion variants of 9q13-q21.12 and classical euchromatic variants of 9q12/qh involve deletion, duplication and triplication of large tracts of segmentally duplicated pericentromeric euchromatin.
Lionel R Willatt, John C K Barber, Amanda Clarkson, Ingrid Simonic, F Lucy Raymond

Eur J Hum Genet· January 2007

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