Publications by authors named "Theodore Drivas"

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Racial and socioeconomic disparities in genetic evaluation and testing in the adult patient population.
Jessica I Gold, Yehuda Elkaim, Nina B Gold, Stephanie Asher, Anna Raper, Theodore G Drivas

Am J Hum Genet· December 2025

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Patient interpretation and implementation of air embolism prevention guidelines in hereditary hemorrhagic telangiectasia (HHT): a survey-based study.
Kimberly Wei, Susan Shamimi-Noori, Theodore G Drivas, Scott O Trerotola

CVIR Endovasc· November 2025

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Practice-Based Insights into Adult Genetics: High Diagnostic Yield, Demographic Determinants, and Patterns of Test Utilization in Over 7,000 Patients.
Jessica I Gold, Yehuda Elkaim, Stephanie Asher, Anna Raper, Courtney Condit, Theodore G Drivas

medRxiv· October 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, Theodore Drivas

medRxiv· September 2025

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Turbulence without Walls: Whither the Zeroth Law of Turbulence?
Kartik P Iyer, Theodore D Drivas, Gregory L Eyink, Katepalli R Sreenivasan

Phys Rev Lett· September 2025

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Exclusion-based exome sequencing in critically ill adults 18-40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing.
Jessica I Gold, Colleen M Kripke, , , Theodore G Drivas

Am J Hum Genet· August 2025

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The polygenic architecture of hidradenitis suppurativa reveals signaling mechanisms that implicate epithelial remodeling.
Atlas Khan, Poppy A Gould, Yiming Luo, Errol P Prens, Lee Wheless, Theodore G Drivas

medRxiv· July 2025

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A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.
Anton Safonov, Tomoki T Nomakuchi, Elizabeth Chao, Carrie Horton, Jill S Dolinsky, Theodore G Drivas

Nat Commun· April 2025

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Kidney multiome-based genetic scorecard reveals convergent coding and regulatory variants.
Hongbo Liu, Amin Abedini, Eunji Ha, Ziyuan Ma, Xin Sheng, Theodore G Drivas

Science· February 2025

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Sex-Specific Effects of Downregulation on Dilated Cardiomyopathy.
Dongwook Choe, Megan Burke, Jeffrey A Brandimarto, Ingrid Marti-Pamies, Jaime Yob, Theodore G Drivas

Circulation· November 2024

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Protocol for a type 3 hybrid implementation cluster randomized clinical trial to evaluate the effect of patient and clinician nudges to advance the use of genomic medicine across a diverse health system.
Anna C Raper, Benita L Weathers, Theodore G Drivas, Colin A Ellis, Colleen Morse Kripke

Implement Sci· August 2024

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Unraveling a history of overlap: A phenotypic comparison of RBCK1-related disease and glycogen storage disease type IV.
Haley M Crane, Stephanie Asher, Laura Conway, Theodore G Drivas, Staci Kallish

Am J Med Genet A· July 2024

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Progesterone for Neurodevelopment in Fetuses With Congenital Heart Defects: A Randomized Clinical Trial.
J William Gaynor, Julie S Moldenhauer, Erin E Zullo, Nancy B Burnham, Marsha Gerdes, Theodore G Drivas

JAMA Netw Open· May 2024

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Universal Exome Sequencing in Critically Ill Adults: A Diagnostic Yield of 25% and Race-Based Disparities in Access to Genetic Testing.
Jessica Gold, Colleen M Kripke, , , Theodore G Drivas

medRxiv· April 2024

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Sex-Specific Effect of MTSS1 Downregulation on Dilated Cardiomyopathy.
Dongwook Choe, Megan Burke, Jeffrey A Brandimarto, Ingrid Marti-Pamies, Jaime Yob, Theodore G Drivas

medRxiv· March 2024

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Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA.
Bede N Nriagu, Lydia S Williams, Niambi Brewer, Lea F Surrey, Abhay S Srinivasan, Theodore G Drivas

Am J Med Genet A· January 2024

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Self-similarity and vanishing diffusion in fluvial landscapes.
Shashank Kumar Anand, Matteo B Bertagni, Theodore D Drivas, Amilcare Porporato

Proc Natl Acad Sci U S A· December 2023

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Phenotypes of undiagnosed adults with actionable and variants.
Jessica I Gold, Sarina Madhavan, Joseph Park, Hana Zouk, Emma Perez, Theodore G Drivas

HGG Adv· October 2023

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Comparison of Transthoracic Contrast Echocardiography with High-Resolution Chest CT after Embolization of Pulmonary Arteriovenous Malformation.
Nicole R Curnes, Matthew L Hung, Daniel M DePietro, Victor A Ferrari, Theodore G Drivas

J Vasc Interv Radiol· August 2023

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A genotype-first approach identifies high incidence of pathogenic variants with distinct disease associations.
Anton Safonov, Tomoki T Nomakuchi, Elizabeth Chao, Carrie Horton, Jill S Dolinsky, Theodore G Drivas

medRxiv· August 2023

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Unmasking the challenges of Kabuki syndrome in adulthood: A case series.
Jessica R C Priestley, Alyssa L Rippert, Courtney Condit, Kosuke Izumi, Staci Kallish, Theodore G Drivas

Am J Med Genet C Semin Med Genet· June 2023

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Inference of Causal Relationships Between Genetic Risk Factors for Cardiometabolic Phenotypes and Female-Specific Health Conditions.
Brenda Xiao, Digna R Velez Edwards, Anastasia Lucas, Theodore Drivas, Kathryn Gray

J Am Heart Assoc· March 2023

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Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Theodore G Drivas

Sci Adv· March 2023

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Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.
Guillaume Butler-Laporte, Gundula Povysil, Jack A Kosmicki, Elizabeth T Cirulli, Theodore Drivas

PLoS Genet· November 2022

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The Penn Medicine BioBank: Towards a Genomics-Enabled Learning Healthcare System to Accelerate Precision Medicine in a Diverse Population.
Anurag Verma, Scott M Damrauer, Nawar Naseer, JoEllen Weaver, Colleen M Kripke, Theodore G Drivas

J Pers Med· November 2022

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