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

doi:10.1038/gim.2016.14

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

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

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2016

Weerakkody Ruwan A, Vandrovcova Jana, Kanonidou Christina, Mueller Michael, Gampawar Piyush, Ibrahim Yousef, Norsworthy Penny, Biggs Jennifer, Abdullah Abdulshakur, Ross David, Black Holly A, Ferguson David, Cheshire Nicholas J, Kazkaz Hanadi, Grahame Rodney, Ghali Neeti, Vandersteen Anthony, Pope F Michael, Aitman Timothy J

Abstract excerpt

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 for targeted, unbiased sequencing of 12 collagen and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Collagen

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ehlers-Danlos Syndrome

Share to Genetic Testing

Share to High-Throughput Nucleotide Sequencing

Share to Pathology, Molecular

Share to Protein Serine-Threonine Kinases

Share to Receptor, Transforming Growth Factor-beta Type I

Share to Receptors, Transforming Growth Factor beta

Source

Open in PubMed

Identifiers

PMID: 27011056
DOI: 10.1038/gim.2016.14

Genes

FBN1
SMAD3
TGFBR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.PMID 27011056Read ↗

Collagen & aortopathy gene abnormalities in Ehlers Danlos Syndrome (EDS) & sporadic Thoracic Aortic Aneurysm & Dissection (TAAD)Semantic proximity Read ↗

Next-Generation Sequencing of Connective Tissue Genes in Patients with Classical Ehlers-Danlos SyndromeSemantic proximity Read ↗

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.Semantic proximity Read ↗

Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.Semantic proximity Read ↗

Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.Semantic proximity Read ↗

Whole-exome sequencing facilitates the differential diagnosis of Ehlers-Danlos syndrome (EDS).Semantic proximity Read ↗

Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers-Danlos syndrome.Semantic proximity Read ↗

Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.Semantic proximity Read ↗

Genetic complexity of diagnostically unresolved Ehlers-Danlos syndromeSemantic proximity Read ↗

Diversity in heritable disorders of connective tissue at a single center.Semantic proximity Read ↗

Structural in silico dissection of the collagen V interactome to identify genotype-phenotype correlations in classic Ehlers-Danlos Syndrome (EDS).Semantic proximity Read ↗

Hypermobile Ehlers-Danlos syndrome: A review and a critical appraisal of published genetic research to date.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.