Last Updated: 09/26/2026
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Found 13 publications
Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel.
Journal: The Journal of molecular diagnostics : JMD
Published: September 18, 2020
A Novel Frameshift COL3A1 Variant in Vascular Ehlers-Danlos Syndrome.
Journal: Annals of vascular surgery
Published: September 28, 2018
Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms.
Journal: American journal of human genetics
Published: July 23, 2018
Current Practices and the Provider Perspectives on Inconclusive Genetic Test Results for Osteogenesis Imperfecta in Children with Unexplained Fractures: ELSI Implications.
Journal: The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics
Published: September 03, 2016
Endovascular Repair of Internal Mammary Artery Aneurysms in 2 Sisters with SMAD3 Mutation.
Journal: Annals of vascular surgery
Published: July 01, 2016
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
Journal: Genome research
Published: February 01, 2015
The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 02, 2014
Pregnancy-related deaths and complications in women with vascular Ehlers-Danlos syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 06, 2014
The genetic basis of DOORS syndrome: an exome-sequencing study.
Journal: The Lancet. Neurology
Published: December 03, 2013
FKBP14-related Ehlers-Danlos syndrome: expansion of the phenotype to include vascular complications.
FKBP14-related Ehlers-Danlos syndrome: expansion of the phenotype to include vascular complications.
Journal: American journal of medical genetics. Part A
Published: September 24, 2013
Ehlers-Danlos syndrome: a showcase of conditions that lead to understanding matrix biology.
Journal: Matrix biology : journal of the International Society for Matrix Biology
Published: June 20, 2013
Heritable collagen disorders: the paradigm of the Ehlers-Danlos syndrome.
Journal: The Journal of investigative dermatology
Published: November 17, 2012
Last Updated: 09/26/2026