A novel deletion involving the connexin-30 gene, del (GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non …
METHODS This study was done on probands with ARNSHI and their relatives from Spain,
Italy, France, Belgium, the United Kingdom, Israel, the Palestinian Authority, the USA, Brazil …
Italy, France, Belgium, the United Kingdom, Israel, the Palestinian Authority, the USA, Brazil …
[HTML][HTML] Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss
…, AE Weaver, EA Black-Ziegelbein, D Wang, H Azaiez… - Human genetics, 2016 - Springer
Hearing loss is the most common sensory deficit in humans, affecting 1 in 500 newborns.
Due to its genetic heterogeneity, comprehensive diagnostic testing has not previously been …
Due to its genetic heterogeneity, comprehensive diagnostic testing has not previously been …
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
Due to the high genetic heterogeneity of hearing loss (HL), current clinical testing includes
sequencing large numbers of genes, which often yields a significant number of novel …
sequencing large numbers of genes, which often yields a significant number of novel …
A genotype-phenotype correlation for GJB2 (connexin 26) deafness
…, I Del Castillo, GP Chamberlin, H Azaiez… - Journal of medical …, 2004 - jmg.bmj.com
Introduction: Mutations in GJB2 are the most common cause of non-syndromic autosomal
recessive hearing impairment, ranging from mild to profound. Mutation analysis of this gene …
recessive hearing impairment, ranging from mild to profound. Mutation analysis of this gene …
Impact of the overall regularity and related granulometric characteristics on the critical state soil mechanics of natural sands: a state-of-the-art review
This research aims to establish accurate correlations between critical state characteristics
and particle shape parameters in terms of overall regularity (OR), considering the gradation …
and particle shape parameters in terms of overall regularity (OR), considering the gradation …
[PDF][PDF] Genomic landscape and mutational signatures of deafness-associated genes
The classification of genetic variants represents a major challenge in the post-genome era
by virtue of their extraordinary number and the complexities associated with ascribing a …
by virtue of their extraordinary number and the complexities associated with ascribing a …
gEAR: Gene Expression Analysis Resource portal for community-driven, multi-omic data exploration
To the Editor—Biologists are important stakeholders in genomic data, both as data
generators and as users of genomic data resources. Tools to efficiently visualize and …
generators and as users of genomic data resources. Tools to efficiently visualize and …
[PDF][PDF] Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants
…, AC Giuffre, S Happe, MS Hildebrand, H Azaiez… - The American Journal of …, 2014 - cell.com
Ethnic-specific differences in minor allele frequency impact variant categorization for genetic
screening of nonsyndromic hearing loss (NSHL) and other genetic disorders. We sought to …
screening of nonsyndromic hearing loss (NSHL) and other genetic disorders. We sought to …
[HTML][HTML] Copy number variants are a common cause of non-syndromic hearing loss
Abstract Background Copy number variants (CNVs) are a well-recognized cause of genetic
disease; however, methods for their identification are often gene-specific, excluded as …
disease; however, methods for their identification are often gene-specific, excluded as …
Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran
Background Countries with culturally accepted consanguinity provide a unique resource for
the study of rare recessively inherited genetic diseases. Although hereditary hearing loss …
the study of rare recessively inherited genetic diseases. Although hereditary hearing loss …