Publications by authors named "Reed Pyeritz"

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An electronic review of clinical outcomes after return of actionable genetic research results from a health system research biobank.
Giorgio Cocchella, Lillian Phung, Elisabeth Wood, Brian Egleston, Lily Hoffman-Andrews, Reed Pyeritz

Eur J Med Genet· December 2025

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Leveraging Open-Source Large Language Models to Identify Undiagnosed Patients with Rare Genetic Aortopathies.
Pankhuri Singhal, Zilinghan Li, Ze Yang, Tarak Nandi, Colleen Morse, Reed E Pyeritz

medRxiv· September 2025

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Family functioning and health-related quality of life in children and young adults with Marfan syndrome.
Lauren S Crafts, Lynn A Sleeper, Karen Uzark, Andrew M Atz, Timothy J Bradley, Reed E Pyeritz

Qual Life Res· June 2025

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Aortic and arterial manifestations and clinical features in -related heritable thoracic aortic disease: results from the Montalcino Aortic Consortium.
Michelle Su-Anne Lim, Dong-Chuan Guo, Walter Velasco Torrez, Andrew Lai, Jonathan Schweber, Reed Pyeritz

J Med Genet· January 2025

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Facilitating return of actionable genetic research results from a biobank repository: Participant uptake and utilization of digital interventions.
Lillian Phung, Elisabeth Wood, Brian Egleston, Lily Hoffman-Andrews, Demetrios Ofidis, Reed Pyeritz

HGG Adv· October 2024

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Acute Aortic Dissection: Observational Lessons Learned From 11 000 Patients.
Eduardo Bossone, Kim A Eagle, Christoph A Nienaber, Santi Trimarchi, Himanshu J Patel, Reed E Pyeritz

Circ Cardiovasc Qual Outcomes· September 2024

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Vertebral Tortuosity Is Associated With Increased Rate of Cardiovascular Events in Vascular Ehlers-Danlos Syndrome.
Sara B Stephens, Sherene Shalhub, Nicholas Dodd, Jesse Li, Michael Huang, Reed E Pyeritz

J Am Heart Assoc· October 2023

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Early Mortality in Type A Acute Aortic Dissection: Insights From the International Registry of Acute Aortic Dissection.
Kevin M Harris, Christoph A Nienaber, Mark D Peterson, Elise M Woznicki, Alan C Braverman, Reed Pyeritz

JAMA Cardiol· October 2022

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Comparative Risks of Initial Aortic Events Associated With Genetic Thoracic Aortic Disease.
Ellen S Regalado, Shaine A Morris, Alan C Braverman, Ellen M Hostetler, Julie De Backer, Reed E Pyeritz

J Am Coll Cardiol· August 2022

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Development and performance of a hereditary hemorrhagic telangiectasia-specific quality-of-life instrument.
Raj S Kasthuri, Shruti Chaturvedi, Sonia Thomas, Nathan Vandergrift, Carla Bann, Reed Pyeritz

Blood Adv· July 2022

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Location of Aortic Enlargement and Risk of Type A Dissection at Smaller Diameters.
Asvin M Ganapathi, David N Ranney, Mark D Peterson, Mark E Lindsay, Himanshu J Patel, Reed E Pyeritz

J Am Coll Cardiol· May 2022

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Cardiovascular Outcomes in Aortopathy: GenTAC Registry of Genetically Triggered Aortic Aneurysms and Related Conditions.
Kathryn W Holmes, Sheila Markwardt, Kim A Eagle, Richard B Devereux, Jonathan W Weinsaft, Reed E Pyeritz

J Am Coll Cardiol· May 2022

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Digital vascular lesions detected by transillumination.
Reed E Pyeritz

Am J Med Genet A· January 2022

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Publisher Correction: Marfan syndrome.
Dianna M Milewicz, Alan C Braverman, Julie De Backer, Shaine A Morris, Catherine Boileau, Reed E Pyeritz

Nat Rev Dis Primers· January 2022

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Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes.
Alanna Strong, Cara Skraban, Kevin Meyers, Sandra Amaral, Susan Furth, Reed E Pyeritz

Am J Med Genet A· December 2021

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Marfan syndrome.
Dianna M Milewicz, Alan C Braverman, Julie De Backer, Shaine A Morris, Catherine Boileau, Reed E Pyeritz

Nat Rev Dis Primers· September 2021

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Uncertainty in Genomics Impacts Precision Medicine.
Reed E Pyeritz

Trends Genet· August 2021

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Arachnodactyly represented in art.
Reed E Pyeritz

Am J Med Genet C Semin Med Genet· June 2021

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Marfan Syndrome: Expanding the Cardiovascular Phenotype?
Reed E Pyeritz

J Am Coll Cardiol· June 2021

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Clinical Features and Outcomes of Pregnancy-Related Acute Aortic Dissection.
Alan C Braverman, Eric Mittauer, Kevin M Harris, Arturo Evangelista, Reed E Pyeritz

JAMA Cardiol· January 2021

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Cerebrovascular Malformations in a Pediatric Hereditary Hemorrhagic Telangiectasia Cohort.
Lauren A Beslow, Jake Breimann, Daniel J Licht, Jake Waldman, Samantha Fallacaro, Reed E Pyeritz

Pediatr Neurol· September 2020

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Open Thoracoabdominal Aortic Repair in Patients With Heritable Aortic Disease in the GenTAC Registry.
William C Frankel, Howard K Song, Rita K Milewski, Sherene Shalhub, Norma L Pugh, Reed E Pyeritz

Ann Thorac Surg· May 2020

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Postembolotherapy Pulmonary Arteriovenous Malformation Follow-Up: A Role for Graded Transthoracic Contrast Echocardiography Prior to High-Resolution Chest CT Scan.
Daniel M DePietro, Nicole R Curnes, Jesse Chittams, Victor A Ferrari, Reed E Pyeritz

Chest· May 2020

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Features of Marfan syndrome not listed in the Ghent nosology - the dark side of the disease.
Yskert von Kodolitsch, Anthony Demolder, Evaldas Girdauskas, Harald Kaemmerer, Katharina Kornhuber, Reed Pyeritz

Expert Rev Cardiovasc Ther· December 2019

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Carnival: A Graph-Based Data Integration and Query Tool to Support Patient Cohort Generation for Clinical Research.
David Birtwell, Heather Williams, Reed Pyeritz, Scott Damrauer, Danielle L Mowery

Stud Health Technol Inform· August 2019

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