Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing

Infantile nystagmus (IN) is a genetically heterogeneous disorder arising from variants of genes expressed within the developing retina and brain. IN presents a diagnostic challenge and patients often undergo numerous investigations. We aimed to develop and assess the utility of a next-generation seq...

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Bibliographic Details
Published in:Eur J Hum Genet
Main Authors: Thomas, Mervyn G, Maconachie, Gail DE, Sheth, Viral, McLean, Rebecca J, Gottlob, Irene
Format: Artigo
Language:Inglês
Published: Nature Publishing Group 2017
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5477371/
https://ncbi.nlm.nih.gov/pubmed/28378818
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.44
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