Last Updated: 09/26/2026
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Found 17 publications
From Atherosclerosis to Spontaneous Coronary Artery Dissection: Defining a Clinical and Genetic Risk Spectrum for Myocardial Infarction.
Journal: Current atherosclerosis reports
Published: May 02, 2024
Implementing evidence-based assertions of clinical actionability in the context of secondary findings: Updates from the ClinGen Actionability Working Group.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 19, 2024
Advancements in the Genetics of Spontaneous Coronary Artery Dissection.
Journal: Current cardiology reports
Published: October 24, 2023
ATP1A1 -linked diseases require a malfunctioning protein product from one allele.
Journal: bioRxiv : the preprint server for biology
Published: April 24, 2023
ATP1A1-linked diseases require a malfunctioning protein product from one allele.
Journal: Biochimica et biophysica acta. Molecular cell research
Published: February 28, 2023
Genotype first: Clinical genomics research through a reverse phenotyping approach.
Journal: American journal of human genetics
Published: January 07, 2023
Fibromuscular Dysplasia and Abdominal Aortic Aneurysms Are Dimorphic Sex-Specific Diseases With Shared Complex Genetic Architecture.
Journal: Circulation. Genomic and precision medicine
Published: November 14, 2022
The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 08, 2021
Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of results.
Journal: Clinical genetics
Published: October 07, 2020
A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia.
Journal: Arteriosclerosis, thrombosis, and vascular biology
Published: September 17, 2020
Management of Secondary Genomic Findings.
Journal: American journal of human genetics
Published: July 04, 2020
Common genetic susceptibility loci link PFAPA syndrome, Behçet's disease, and recurrent aphthous stomatitis.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: June 11, 2020
Last Updated: 09/26/2026