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Congenital hearing loss
AMH Korver, RJH Smith, G Van Camp… - Nature reviews Disease …, 2017 - nature.com
Congenital hearing loss (hearing loss that is present at birth) is one of the most prevalent
chronic conditions in children. In the majority of developed countries, neonatal hearing …
chronic conditions in children. In the majority of developed countries, neonatal hearing …
Massively parallel sequencing for genetic diagnosis of hearing loss: the new standard of care
Objective To evaluate the use of new genetic sequencing techniques for comprehensive
genetic testing for hearing loss. Data Sources Articles were identified from PubMed and …
genetic testing for hearing loss. Data Sources Articles were identified from PubMed and …
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss
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 …
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 …
[HTML][HTML] Genomic analyses of hair from Ludwig van Beethoven
Summary Ludwig van Beethoven (1770–1827) remains among the most influential and
popular classical music composers. Health problems significantly impacted his career as a …
popular classical music composers. Health problems significantly impacted his career as a …
[HTML][HTML] Hereditary hearing loss and deafness overview
Hereditary Hearing Loss and Deafness Overview - Abstract - Europe PMC Sign in | Create an
account https://orcid.org Europe PMC Menu About Tools Developers Help Contact us …
account https://orcid.org Europe PMC Menu About Tools Developers Help Contact us …
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders
R Pfundt, M Del Rosario, LELM Vissers, MP Kwint… - Genetics in …, 2017 - nature.com
Purpose: Copy-number variation is a common source of genomic variation and an important
genetic cause of disease. Microarray-based analysis of copy-number variants (CNVs) has …
genetic cause of disease. Microarray-based analysis of copy-number variants (CNVs) has …
Genomic sequencing for newborn screening: results of the NC NEXUS project
TS Roman, SB Crowley, MI Roche… - The American Journal of …, 2020 - cell.com
Newborn screening (NBS) was established as a public health program in the 1960s and is
crucial for facilitating detection of certain medical conditions in which early intervention can …
crucial for facilitating detection of certain medical conditions in which early intervention can …
Dosage sensitivity is a major determinant of human copy number variant pathogenicity
Human copy number variants (CNVs) account for genome variation an order of magnitude
larger than single-nucleotide polymorphisms. Although much of this variation has no …
larger than single-nucleotide polymorphisms. Although much of this variation has no …
[HTML][HTML] Optical genome map** and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease …
SE de Bruijn, K Rodenburg, J Corominas… - Genetics in …, 2023 - Elsevier
Abstract Purpose Structural variants (SVs) play an important role in inherited retinal
diseases (IRD). Although the identification of SVs significantly improved upon the availability …
diseases (IRD). Although the identification of SVs significantly improved upon the availability …