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

Topics Community

Article

Genotyping as Part of Routine Clinical Care-The Outcomes for a Large Paediatric Vascular Anomaly Cohort.

American journal of medical genetics. Part A - 1 May 2025

O'Sullivan Sinead, Shilova Maria, Webb Angharad, Francis Glenn, Robertson Jeremy, Gupta Romi Das, Kimble Roy, Richmond Christopher M

Abstract excerpt

We describe the phenotypic and genotypic spectrum of patients with vascular anomaly (VA) in a paediatric multi-disciplinary VA clinic. We measured the clinical utility of genotyping by comparing pre and posttest diagnosis and management. A 46-month retrospective analysis occurred for 250 patients offered genetic testing in the VA clinic. DNA was extracted from biopsied vascular lesions. The coding regions of 27...

Topics

Join the communities discussing this publication.

Child
Child, Preschool
Gene Frequency
Genetic Testing
Genotyping Techniques

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant, Newborn

Vascular Malformations

Source

Identifiers

PMID: 39789873
DOI: 10.1002/ajmg.a.63976

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genotyping as Part of Routine Clinical Care-The Outcomes for a Large Paediatric Vascular Anomaly Cohort.PMID 39789873Read ↗

Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCASemantic proximity Read ↗

Germline genetic mutations in pediatric cerebrovascular anomalies: a multidisciplinary approach to screening, testing, and management.Semantic proximity Read ↗

Variant discovery in patients with Mendelian vascular anomalies by next-generation sequencing and their use in patient clinical management.Semantic proximity Read ↗

How we approach genetics in the diagnosis and management of vascular anomalies.Semantic proximity Read ↗

Genomic profiling informs diagnoses and treatment in vascular anomalies.Semantic proximity Read ↗

Genetic syndromes with vascular malformations – update on molecular background and diagnosticsSemantic proximity Read ↗

Barriers to Genetic Testing in Vascular Malformations.Semantic proximity Read ↗

Droplet Digital PCR as a First-Line Detection Tool in the Genetic Diagnosis of Vascular AnomaliesSemantic proximity Read ↗

Genetic mutations and phenotype characteristics in peripheral vascular malformations: A systematic review.Semantic proximity Read ↗

Genes and phenotypes in vascular malformations.Semantic proximity Read ↗

Multiple Genomic Technologies Validate Rare Novel Variant and Direct Medical Care in Vascular Anomalies.Semantic proximity Read ↗

A Primer on a Comprehensive Genetic Approach to Vascular AnomaliesSemantic proximity Read ↗

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