Amanda Clarkson

机构：Cambridge University Hospitals NHS Foundation Trust

发表论文 6 篇 · 总被引 2259 次 · h-index 5

代表论文

• Derivation of pluripotent epiblast stem cells from mammalian embryos (2007 · Nature · 被引 2045)
• STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability (2017 · Journal of Medical Genetics · 被引 64)
• 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 (2006 · European Journal of Human Genetics · 被引 56)
• 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 (2010 · American Journal of Medical Genetics Part A · 被引 54)
• Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients (2015 · American Journal of Medical Genetics Part A · 被引 41)
• Novel deletion variants of 9q21.11-q21.12 and classical euchromatic variants of 9q12/qh involve large scale copy number variation of segmentally duplicated pericentromeric euchromatin (2006 · ePrints Soton (University of Southampton))