Latest Publications
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
Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis