DFNB16 is a frequent cause of congenital hearing impairment: implementation ofSTRCmutation analysis in routine diagnostics

Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3

(2013) Nicole Hoppman et al.   Molecular Cytogenetics

Mechanisms for recurrent and complex human genomic rearrangements

(2012) Pengfei Liu et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

SIFT web server: predicting effects of amino acid substitutions on proteins

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment

(2011) Lauren J. Francey et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Phylomedicine: an evolutionary telescope to explore and diagnose the universe of disease mutations

(2011) Sudhir Kumar et al.   TRENDS IN GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents

(2009) J Knijnenburg et al.   JOURNAL OF MEDICAL GENETICS

Genetics of congenital hearing impairment: A clinical approach

(2008) Lisbeth Tranebjærg   INTERNATIONAL JOURNAL OF AUDIOLOGY

Stereocilin-deficient mice reveal the origin of cochlear waveform distortions

(2008) Elisabeth Verpy et al.   NATURE