A rare case of a male child with post-zygotic de novo mosaic variant c.538C > T in MECP2 gene: a case report of Rett syndrome

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 60.7K citations · Full text

A global reference for human genetic variation

Nature · 2015 · 19.2K citations · Full text

Human Variation, Natural Sciences, Genetics +6

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · Nature · 2020 · 9.6K citations · Full text

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

Chromatin, Genome Instability, Transcriptional Regulation +11

Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex

Xinsheng Nan, Huck‐Hui Ng, Colin A. Johnson et al. · Nature · 1998 · 3.4K citations

Histone Modifications, Chromatin, Transcriptional Regulation +13