Ruthie E. Amir

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

Ruthie E. Amir, Ignatia B. Van den Veyver, Mimi Wan et al. · Nature Genetics · 1999 · 5K citations

Life Sciences, Genetics, Molecular Genetics +9

Rett Syndrome and Beyond: Recurrent Spontaneous and Familial MECP2 Mutations at CpG Hotspots

Mimi Wan, Stephen Sung Jae Lee, Xianyu Zhang et al. · The American Journal of Human Genetics · 1999 · 518 citations · Full text

Life Sciences, Genetics, Neuroscience +9

Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

Ruthie E. Amir, Ignatia B. Van den Veyver, Rebecca Schultz et al. · Annals of Neurology · 2000 · 345 citations

Life Sciences, Genetics, Neurology +15

Diagnostic Testing for Rett Syndrome by DHPLC and Direct Sequencing Analysis of the MECP2 Gene: Identification of Several Novel Mutations and Polymorphisms

I. Buyse, Ping Fang, Katherine T. Hoon et al. · The American Journal of Human Genetics · 2000 · 169 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Mechanism of processing of the NF-κB2 p100 precursor: identification of the specific polyubiquitin chain-anchoring lysine residue and analysis of the role of NEDD8-modification on the SCFβ-TrCP ubiquitin ligase

Ruthie E. Amir, Hans Haecker, Michael Karin et al. · Oncogene · 2003 · 106 citations

Life Sciences, Biochemistry, Molecular Biology +13