Latest
Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: case report
Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1
Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system
SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes
Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis
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