Associated Papers
MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males.
Wen Y et al.
Bmc Medicine, 2023
A performance evaluation study: Variant annotation tools - the enigma of clinical next generation sequencing (NGS) based genetic testing.
Tuteja S et al.
Journal of Pathology Informatics, 2022
A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration.
Ehrhart F et al.
Scientific Data, 2021
X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients.
Xiol C et al.
Scientific Reports, 2019
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
Kohda M et al.
Plos Genetics, 2016
Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations.
Das DK et al.
Gene, 2013
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