Indication for genetic testing: A checklist for Rett syndrome

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

MECP2 mutations account for most cases of typical forms of Rett syndrome

Thierry Bienvenu · Human Molecular Genetics · 2000 · 308 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Rett syndrome: Criteria for inclusion and exclusion

Bengt Hagberg, Françoise Goutières, F. Hanefeld et al. · Brain and Development · 1985 · 292 citations

Life Sciences, Neurology, Psychiatry +6

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location

Jeremy P. Cheadle · Human Molecular Genetics · 2000 · 286 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16