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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Genomet og syns- og høresansen

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  1. Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome

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  2. Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism

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  3. Functional Assessment of Variants Associated with Wolfram Syndrome

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The article briefly reviews the impact of genetics and genomics in audiology and ophthalmology, respectively. The discovery of an increasing number of genes associated with hearing and visual impairment creates a foundation for a better understanding of pathophysiology, eventually leading to novel and more individualized treatments. Furthermore, genetic evaluation and counselling can contribute to molecular diagnosis, better prognostication, and mode of inheritance. Next generation sequencing is a technology well suited to dissect the vast genetic heterogeneity in these conditions.

Translated title of the contributionThe genome in terms of audiology and ophthalmology.
Original languageDanish
JournalUgeskrift for læger [online]
Volume176
Issue number46
ISSN1603-6824
Publication statusPublished - 10 Nov 2014

ID: 44692903