Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 29 publications
Institutional impact of multidisciplinary aortic team implementation on practice patterns and surgical productivity.
Journal: Seminars in vascular surgery
Published: August 06, 2025
A comprehensive multidisciplinary thoracic aortic program improves patient quality metrics after type A aortic dissection repair.
Journal: JTCVS open
Published: June 24, 2025
Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts.
Journal: Rare (Amsterdam, Netherlands)
Published: October 18, 2024
Multidisciplinary hybrid approach to management of a thoracoabdominal aneurysm in a patient with both Loeys-Dietz and vascular Ehlers-Danlos syndrome.
Journal: Journal of vascular surgery cases and innovative techniques
Published: December 22, 2023
Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition.
Journal: bioRxiv : the preprint server for biology
Published: October 09, 2023
Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A.
Journal: bioRxiv : the preprint server for biology
Published: February 17, 2023
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A.
Journal: Neurology. Genetics
Published: February 03, 2023
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Journal: Annals of clinical and translational neurology
Published: January 30, 2023
Splenic artery pathology presentation, operative interventions, and outcomes in 88 patients with vascular Ehlers-Danlos syndrome.
Journal: Journal of vascular surgery
Published: November 20, 2022
Abnormal Bone Collagen Cross-Linking in Osteogenesis Imperfecta/Bruck Syndrome Caused by Compound Heterozygous PLOD2 Mutations.
Journal: JBMR plus
Published: November 19, 2020
Last Updated: 09/26/2026