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Integrating Cadaver Exome Sequencing Into a First-Year Medical Student Curriculum

Integrated analysis of the prostate cancer small-nucleolar transcriptome reveals SNORA55 as a driver of prostate cancer progression

Usher syndrome in Denmark: mutation spectrum and some clinical observations

Partial USH2A deletions contribute to Usher syndrome in Denmark

Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation

Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease

Functional characterization of a novel loss-of-function mutation of PRPS1 related to early-onset progressive nonsyndromic hearing loss in Koreans (DFNX1): Potential implications on future therapeutic intervention

Identification of a novel GATA3 mutation in a deaf Taiwanese family by massively parallel sequencing, Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis

Targeted Exome Sequencing of Deafness Genes After Failure of Auditory Phenotype-Driven Candidate Gene Screening

Targeted gene capture and massively parallel sequencing identify TMC1 as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss

Dnmt3a loss predisposes murine hematopoietic stem cells to malignant transformation

Discovery of a novel ligand that modulates the protein–protein interactions of the AAA+ superfamily oncoprotein reptin