Exome sequencing in infants with congenital hearing impairment: a population-based cohort study

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

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Mutations in the hminK gene cause long QT syndrome and suppress lKs function

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Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss

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Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

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A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

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