Targeted next-generation sequencing makes new molecular diagnoses and expands genotype–phenotype relationship in Ehlers–Danlos syndrome

Abstract

Purpose:Ehlers–Danlos syndrome (EDS) comprises a group of overlapping hereditary disorders of connective tissue with significant morbidity and mortality, including major vascular complications. We sought to identify the diagnostic utility of a next-generation sequencing (NGS) panel in a mixed EDS cohort.Methods:We developed and applied PCR-based NGS assays… (More)
DOI: 10.1038/gim.2016.14

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Cite this paper

@article{Weerakkody2016TargetedNS, title={Targeted next-generation sequencing makes new molecular diagnoses and expands genotype–phenotype relationship in Ehlers–Danlos syndrome}, author={Ruwan A Weerakkody and Jana Vandrovcova and Christina Kanonidou and Michael Mueller and Piyush Gampawar and Yousef Ibrahim and Penny Norsworthy and Jennifer Biggs and Abdulshakur Abdullah and David Ross and Holly A. Black and David J P Ferguson and Nicholas J. W. Cheshire and Hanadi Kazkaz and Rodney Grahame and N. M. Ghali and Anthony Martin Vandersteen and F. M. Pope and Timothy J. Aitman}, journal={Genetics in Medicine}, year={2016}, volume={18}, pages={1119-1127} }