Search Results - "Simpson, Allen C"
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HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice
Published in PLoS genetics (01-03-2015)“…Hereditary hearing loss is a clinically and genetically heterogeneous disorder. More than 80 genes have been implicated to date, and with the advent of…”
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PDZD7 and hearing loss: More than just a modifier
Published in American journal of medical genetics. Part A (01-12-2015)“…Deafness is the most frequent sensory disorder. With over 90 genes and 110 loci causally implicated in non‐syndromic hearing loss, it is phenotypically and…”
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Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran
Published in Journal of medical genetics (01-12-2015)“…Countries with culturally accepted consanguinity provide a unique resource for the study of rare recessively inherited genetic diseases. Although hereditary…”
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Cordova: web-based management of genetic variation data
Published in Bioinformatics (01-12-2014)“…Cordova is an out-of-the-box solution for building and maintaining an online database of genetic variations integrated with pathogenicity prediction results…”
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Audioprofile Surfaces: The 21st Century Audiogram
Published in Annals of otology, rhinology & laryngology (01-05-2016)“…Objective: To present audiometric data in 3 dimensions by considering age as an addition dimension. Methods: Audioprofile surfaces (APSs) were fitted to a set…”
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HOMER2, a Stereociliary Scaffolding Protein, Is Essential for Normal Hearing in Humans and Mice: e1005137
Published in PLoS genetics (01-03-2015)“…Hereditary hearing loss is a clinically and genetically heterogeneous disorder. More than 80 genes have been implicated to date, and with the advent of…”
Get full text
Journal Article