Associated Papers
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Brownstein CA et al.
Genome Biology, 2014
24667040 (PubMed )
Supplement: gb-2014-15-3-r53-S2.zip › Additional_file_2 › Medical_report_W1.pdf
Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria.
Janecke AR et al.
Human Genetics, 2002
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.
Löffler J et al.
European Journal of Human Genetics : Ejhg, 2001
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