TheMECP2variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

(2015) Lot Snijders Blok et al.   AMERICAN JOURNAL OF HUMAN GENETICS

MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability

(2015) Laura Bianciardi et al.   JOURNAL OF HUMAN GENETICS

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(2015) Caroline F Wright et al.   LANCET

Rett syndrome: a complex disorder with simple roots

(2015) Matthew J. Lyst et al.   NATURE REVIEWS GENETICS

Rett Syndrome and MeCP2

(2014) Vichithra R. B. Liyanage et al.   NEUROMOLECULAR MEDICINE

An AT-Hook Domain in MeCP2 Determines the Clinical Course of Rett Syndrome and Related Disorders

(2013) Steven Andrew Baker et al.   CELL

MeCP2: Making sense of missense in Rett syndrome

(2013) Abhishek Banerjee et al.   CELL RESEARCH

MECP2 Gene Study in a Large Cohort

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Molecular diagnostic dilemmas in Rett syndrome

(2012) Val Zvereff et al.   BRAIN & DEVELOPMENT

Growth failure and outcome in Rett syndrome: Specific growth references

(2012) D. C. Tarquinio et al.   NEUROLOGY

MeCP2: structure and functionThis paper is one of a selection of papers published in a Special Issue entitled 31st Annual International Asilomar Chromatin and Chromosomes Conference, and has undergone the Journal’s usual peer review process.

(2011) Nicholas L. Adkins et al.   Biochemistry and Cell Biology

Rett syndrome: Revised diagnostic criteria and nomenclature

(2010) Jeffrey L. Neul et al.   ANNALS OF NEUROLOGY

Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations

(2010) Kinga Hadzsiev et al.   JOURNAL OF HUMAN GENETICS

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia

(2010) A Piton et al.   MOLECULAR PSYCHIATRY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS