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Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing

Base-Resolution Analysis of 5-Hydroxymethylcytosine in the Mammalian Genome

A Low-Cost Exon Capture Method Suitable for Large-Scale Screening of Genetic Deafness by the Massively-Parallel Sequencing Approach

Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities

Nature Readers Flirt With Personal Genomics

Transcriptional profiling reveals gland-specific differential expression in the three major salivary glands of the adult mouse

Epigenetic alterations in TRAMP mice: epigenome DNA methylation profiling using MeDIP-seq

A novel missense mutation in GIPC3 causes sensorineural hearing loss in an Iranian family revealed by targeted next-generation sequencing

Tread carefully: A functional variant in the human NADPH oxidase 4 (NOX4) is not disease causing

The Global & European Journal of Endocrinology (2018) Congenital Hypogonadotropic Hypogonadism and Constitutional Delay of Growth and Puberty Have Distinct Genetic Architectures

A novel missense mutation in GIPC3 causes sensorineural hearing loss in an Iranian family revealed by targeted next-generation sequencing

Abnormal RNA splicing and genomic instability after induction of DNMT3A mutations by CRISPR/Cas9 gene editing