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

Ruwan Weerakkody | Zendy; Jana Vandrovcová | Zendy; Christina Kaidou | Zendy; Michael Mueller | Zendy; Piyush Gampawar | Zendy; Yousef Ibrahim | Zendy; Penny J. Norsworthy | Zendy; Jennifer Biggs | Zendy; Abdulshakur Abdullah | Zendy; David Ross | Zendy; Holly A. Black | Zendy; David Ferguson | Zendy; Nicholas Cheshire | Zendy; Hanadi Kazkaz | Zendy; Rodney Grahame | Zendy; Neeti Ghali | Zendy; Anthony Vandersteen | Zendy; F M Pope | Zendy; Timothy J. Aitman | Zendy

Open Access

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

Author(s) -

Ruwan Weerakkody,

Jana Vandrovcová,

Christina Kaidou,

Michael Mueller,

Piyush Gampawar,

Yousef Ibrahim,

Penny J. Norsworthy,

Jennifer Biggs,

Abdulshakur Abdullah,

David Ross,

Holly A. Black,

David Ferguson,

Nicholas Cheshire,

Hanadi Kazkaz,

Rodney Grahame,

Neeti Ghali,

Anthony Vandersteen,

F M Pope,

Timothy J. Aitman

Publication year - 2016

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2016.14

Subject(s) - ehlers–danlos syndrome , sanger sequencing , dna sequencing , genetics , genetic testing , biology , genotype , gene , phenotype , cohort , exome sequencing , medicine , bioinformatics , pathology

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.

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