Multi-ancestry fine mapping implicates OAS1 splicing in risk of severe COVID-19
Huffman, Jennifer E., Butler-Laporte, Guillaume, Khan, Atlas, Pairo-Castineira, Erola, Drivas, Theodore G., Peloso, Gina M., Nakanishi, Tomoko, Ganna, Andrea, Verma, Anurag, Baillie, J. Kenneth, Kiryluk, Krzysztof, Richards, J. Brent, Zeberg, Hugo
Published in Nature genetics (01.02.2022)
Published in Nature genetics (01.02.2022)
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Journal Article
Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration
Drivas, Theodore G, Holzbaur, Erika L F, Bennett, Jean
Published in The Journal of clinical investigation (01.10.2013)
Published in The Journal of clinical investigation (01.10.2013)
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Journal Article
Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disorders
Zhang, Xinyuan, Lucas, Anastasia M., Veturi, Yogasudha, Drivas, Theodore G., Bone, William P., Verma, Anurag, Chung, Wendy K., Crosslin, David, Denny, Joshua C., Hebbring, Scott, Jarvik, Gail P., Kullo, Iftikhar, Larson, Eric B., Rasmussen-Torvik, Laura J., Schaid, Daniel J., Smoller, Jordan W., Stanaway, Ian B., Wei, Wei-Qi, Weng, Chunhua, Ritchie, Marylyn D.
Published in Nature communications (14.06.2022)
Published in Nature communications (14.06.2022)
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Journal Article
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
Raper, Anna C, Weathers, Benita L, Drivas, Theodore G, Ellis, Colin A, Kripke, Colleen Morse, Oyer, Randall A, Owens, Anjali T, Verma, Anurag, Wileyto, Paul E, Wollack, Colin C, Zhou, Wenting, Ritchie, Marylyn D, Schnoll, Robert A, Nathanson, Katherine L
Published in Implementation science : IS (19.08.2024)
Published in Implementation science : IS (19.08.2024)
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Journal Article
Opportunities and challenges for biomarker discovery using electronic health record data
Singhal, P., Tan, A.L.M., Drivas, T.G., Johnson, K.B., Ritchie, M.D., Beaulieu-Jones, B.K.
Published in Trends in molecular medicine (01.09.2023)
Published in Trends in molecular medicine (01.09.2023)
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Journal Article
Phenotypes of undiagnosed adults with actionable OTC and GLA variants
Gold, Jessica I., Madhavan, Sarina, Park, Joseph, Zouk, Hana, Perez, Emma, Strong, Alanna, Drivas, Theodore G., Karaa, Amel, Yudkoff, Marc, Rader, Daniel, Green, Robert C., Gold, Nina B.
Published in HGG advances (12.10.2023)
Published in HGG advances (12.10.2023)
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Journal Article
An Autogenously Regulated Expression System for Gene Therapeutic Ocular Applications
Sochor, Matthew A., Vasireddy, Vidyullatha, Drivas, Theodore G., Wojno, Adam, Doung, Thu, Shpylchak, Ivan, Bennicelli, Jeannette, Chung, Daniel, Bennett, Jean, Lewis, Mitchell
Published in Scientific reports (24.11.2015)
Published in Scientific reports (24.11.2015)
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Journal Article
Unraveling a history of overlap: A phenotypic comparison of RBCK1‐related disease and glycogen storage disease type IV
Crane, Haley M., Asher, Stephanie, Conway, Laura, Drivas, Theodore G., Kallish, Staci
Published in American journal of medical genetics. Part A (01.07.2024)
Published in American journal of medical genetics. Part A (01.07.2024)
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Journal Article
Basal exon skipping and genetic pleiotropy: A predictive model of disease pathogenesis
Drivas, Theodore G, Wojno, Adam P, Tucker, Budd A, Stone, Edwin M, Bennett, Jean
Published in Science translational medicine (10.06.2015)
Published in Science translational medicine (10.06.2015)
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Journal Article
Comparison of Transthoracic Contrast Echocardiography with High-Resolution Chest CT after Embolization of Pulmonary Arteriovenous Malformation
Curnes, Nicole R., Hung, Matthew L., DePietro, Daniel M., Ferrari, Victor A., Drivas, Theodore G., Chittams, Jesse, Quinn, Ryan, Trerotola, Scott O.
Published in Journal of vascular and interventional radiology (01.08.2023)
Published in Journal of vascular and interventional radiology (01.08.2023)
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Journal Article
Unmasking the challenges of Kabuki syndrome in adulthood: A case series
Priestley, Jessica R C, Rippert, Alyssa L, Condit, Courtney, Izumi, Kosuke, Kallish, Staci, Drivas, Theodore G
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.06.2023)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.06.2023)
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Journal Article
Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA
Nriagu, Bede N., Williams, Lydia S., Brewer, Niambi, Surrey, Lea F., Srinivasan, Abhay S., Li, Dong, Britt, Allison, Treat, James, Crowley, T. Blaine, O'Connor, Nora, Ganguly, Arupa, Low, David, Queenan, Maria, Drivas, Theodore G., Zackai, Elaine H., Adams, Denise M., Hakonarson, Hakon, Snyder, Kristen M., Sheppard, Sarah E.
Published in American journal of medical genetics. Part A (01.01.2024)
Published in American journal of medical genetics. Part A (01.01.2024)
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Journal Article
The Penn Medicine BioBank: Towards a Genomics-Enabled Learning Healthcare System to Accelerate Precision Medicine in a Diverse Population
Verma, Anurag, Damrauer, Scott M, Naseer, Nawar, Weaver, JoEllen, Kripke, Colleen M, Guare, Lindsay, Sirugo, Giorgio, Kember, Rachel L, Drivas, Theodore G, Dudek, Scott M, Bradford, Yuki, Lucas, Anastasia, Judy, Renae, Verma, Shefali S, Meagher, Emma, Nathanson, Katherine L, Feldman, Michael, Ritchie, Marylyn D, Rader, Daniel J, For The Penn Medicine BioBank
Published in Journal of personalized medicine (29.11.2022)
Published in Journal of personalized medicine (29.11.2022)
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