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Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.
Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Erratum: Polymorphisms in KCNE1 or KCNE3 are not associated with Ménière disease in the Caucasian population