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The Penn Medicine BioBank: Towards a Genomics-Enabled Learning Healthcare System to Accelerate Precision Medicine in a Diverse Population.
Published in:
Journal of Personalized Medicine, 2022, v. 12, n. 12, p. 1974, doi. 10.3390/jpm12121974
By:
- 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.;
- BioBank, For The Penn Medicine
Publication type:
Article
Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disorders.
Published in:
Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30678-w
By:
- 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.
Publication type:
Article
Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration.
Published in:
Journal of Clinical Investigation, 2013, v. 123, n. 10, p. 4525, doi. 10.1172/JCI69448
By:
- Drivas, Theodore G.;
- Holzbaur, Erika L. F.;
- Bennett, Jean
Publication type:
Article
Unmasking the challenges of Kabuki syndrome in adulthood: A case series.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 2, p. 128, doi. 10.1002/ajmg.c.32054
By:
- Priestley, Jessica R. C.;
- Rippert, Alyssa L.;
- Condit, Courtney;
- Izumi, Kosuke;
- Kallish, Staci;
- Drivas, Theodore G.
Publication type:
Article
Unraveling a history of overlap: A phenotypic comparison of RBCK1‐related disease and glycogen storage disease type IV.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63574
By:
- Crane, Haley M.;
- Asher, Stephanie;
- Conway, Laura;
- Drivas, Theodore G.;
- Kallish, Staci
Publication type:
Article
Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 64, doi. 10.1002/ajmg.a.63385
By:
- 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.
Publication type:
Article
The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1063, doi. 10.1002/ajmg.a.61121
By:
- Drivas, Theodore G.;
- Taylor, Jesse A.;
- Zackai, Elaine H.
Publication type:
Article
An Autogenously Regulated Expression System for Gene Therapeutic Ocular Applications.
Published in:
Scientific Reports, 2015, p. 17105, doi. 10.1038/srep17105
By:
- Sochor, Matthew A.;
- Vasireddy, Vidyullatha;
- Drivas, Theodore G.;
- Wojno, Adam;
- Doung, Thu;
- Shpylchak, Ivan;
- Bennicelli, Jeannette;
- Chung, Daniel;
- Bennett, Jean;
- Lewis, Mitchell
Publication type:
Article
Basal exon skipping and genetic pleiotropy: A predictive model of disease pathogenesis.
Published in:
Science Translational Medicine, 2015, v. 7, n. 291, p. 1, doi. 10.1126/scitranslmed.aaa5370
By:
- Drivas, Theodore G.;
- Wojno, Adam P.;
- Tucker, Budd A.;
- Stone, Edwin M.;
- Bennett, Jean
Publication type:
Article
eQTpLot: a user-friendly R package for the visualization of colocalization between eQTL and GWAS signals.
Published in:
BioData Mining, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13040-021-00267-6
By:
- Drivas, Theodore G.;
- Lucas, Anastasia;
- Ritchie, Marylyn D.
Publication type:
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.
Published in:
Implementation Science, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13012-024-01385-5
By:
- 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.
Publication type:
Article
Author Correction: An Autogenously Regulated Expression System for Gene Therapeutic Ocular Applications.
Published in:
Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-35960-w
By:
- Sochor, Matthew A.;
- Vasireddy, Vidyullatha;
- Drivas, Theodore G.;
- Wojno, Adam;
- Duong, Thu T.;
- Shpylchak, Ivan;
- Bennicelli, Jeannette;
- Chung, Daniel;
- Bennett, Jean;
- Lewis, Mitchell
Publication type:
Article
Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome.
Published in:
Genes, 2021, v. 13, n. 6, p. 937, doi. 10.3390/genes12060937
By:
- Vasko, Ashley;
- Drivas, Theodore G.;
- Schrier Vergano, Samantha A.
Publication type:
Article

Found: 13