Multi-ancestry fine mapping implicates OAS1 splicing in risk of severe COVID-19 von 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

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A Network of Nuclear Envelope Membrane Proteins Linking Centromeres to Microtubules von King, Megan C., Drivas, Theodore G., Blobel, Günter

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Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration von Drivas, Theodore G, Holzbaur, Erika L F, Bennett, Jean

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Opportunities and challenges for biomarker discovery using electronic health record data von Singhal, P., Tan, A.L.M., Drivas, T.G., Johnson, K.B., Ritchie, M.D., Beaulieu-Jones, B.K.

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The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature von Drivas, Theodore G., Taylor, Jesse A., Zackai, Elaine H.

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Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disorders von 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.

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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... von 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

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The Bionic Retina: A Small Molecule with Big Potential for Visual Restoration von Drivas, Theodore G., Bennett, Jean

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Phenotypes of undiagnosed adults with actionable OTC and GLA variants von 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.

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

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Existence of a novel clathrin-independent endocytic pathway in yeast that depends on Rho1 and formin von Prosser, Derek C, Drivas, Theodore G, Maldonado-Báez, Lymarie, Wendland, Beverly

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Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA von 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.

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The Penn Medicine BioBank: Towards a Genomics-Enabled Learning Healthcare System to Accelerate Precision Medicine in a Diverse Population von 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

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Interaction between Epsin/Yap180 adaptors and the scaffolds Ede1/Pan1 is required for endocytosis von Maldonado-Báez, Lymarie, Dores, Michael R, Perkins, Edward M, Drivas, Theodore G, Hicke, Linda, Wendland, Beverly

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Progesterone for Neurodevelopment in Fetuses With Congenital Heart Defects: A Randomized Clinical Trial von Gaynor, J William, Moldenhauer, Julie S, Zullo, Erin E, Burnham, Nancy B, Gerdes, Marsha, Bernbaum, Judy C, D'Agostino, Jo Ann, Linn, Rebecca L, Klepczynski, Brenna, Randazzo, Isabel, Gionet, Gabrielle, Choi, Grace H, Karaj, Antoneta, Russell, William W, Zackai, Elaine H, Johnson, Mark P, Gebb, Juliana S, Soni, Shelly, DeBari, Suzanne E, Szwast, Anita L, Ahrens-Nicklas, Rebecca C, Drivas, Theodore G, Jacobwitz, Marin, Licht, Daniel J, Vossough, Arastoo, Nicolson, Susan C, Spray, Thomas L, Rychik, Jack, Putt, Mary E

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End Stage Mitochondrial Cardiomyopathy and Heart Transplantation Due to Biallelic Pathogenic C1QBP Variants von Wilcox, Nicholas S., Prenner, Stuart B., Cevasco, Marisa, Condit, Courtney, Goldstein, Amy, Peterson, James T., Tondi Resta, Isabella, Palmer, Matthew, Lal, Priti, Owens, Anjali Tiku, Pieretti, Janice, Drivas, Theodore G., Reza, Nosheen

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A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome von Drivas, Theodore G., Li, Dong, Nair, Divya, Alaimo, Joseph T., Alders, Marielle, Altmueller, Janine, Barakat, Tahsin Stefan, Bebin, E. Martina, Bertsch, Nicole L., Blackburn, Patrick R., Blesson, Alyssa, Bouman, Arjan M., Brockmann, Knut, Brunelle, Perrine, Burmeister, Margit, Cooper, Gregory M., Denecke, Jonas, Dieux-Coeslier, Anne, Dubbs, Holly, Ferrer, Alejandro, Gal, Danna, Bartik, Lauren E., Gunderson, Lauren B., Hasadsri, Linda, Jain, Mahim, Karimov, Catherine, Keena, Beth, Klee, Eric W., Kloth, Katja, Lace, Baiba, Macchiaiolo, Marina, Marcadier, Julien L., Milunsky, Jeff M., Napier, Melanie P., Ortiz-Gonzalez, Xilma R., Pichurin, Pavel N., Pinner, Jason, Powis, Zoe, Prasad, Chitra, Radio, Francesca Clementina, Rasmussen, Kristen J., Renaud, Deborah L., Rush, Eric T., Saunders, Carol, Selcen, Duygu, Seman, Ann R., Shinde, Deepali N., Smith, Erica D., Smol, Thomas, Blok, Lot Snijders, Stoler, Joan M., Tang, Sha, Tartaglia, Marco, Thompson, Michelle L., van de Kamp, Jiddeke M., Wang, Jingmin, Weise, Dagmar, Weiss, Karin, Woitschach, Rixa, Wollnik, Bernd, Yan, Huifang, Zackai, Elaine H., Zampino, Giuseppe, Campeau, Philippe, Bhoj, Elizabeth

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Abstract 9872: Cardiac Enhancer Variants at the Mtss1 Locus Are Associated with Smaller, More Contractile Hearts von Burke, Megan F, Morley, Michael P, Yang, Yifan, Drivas, Theodore G, choe, dongwook, Day, Sharlene, Musunuru, Kiran, Li, Mingyao, Ritchie, Marylyn, Cappola, Thomas P

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Exome-wide evaluation of rare coding variants using electronic health records identifies new gene–phenotype associations von Park, Joseph, Lucas, Anastasia M., Zhang, Xinyuan, Chaudhary, Kumardeep, Cho, Judy H., Nadkarni, Girish, Dobbyn, Amanda, Chittoor, Geetha, Josyula, Navya S., Katz, Nathan, Breeyear, Joseph H., Ahmadmehrabi, Shadi, Drivas, Theodore G., Chavali, Venkata R. M., Fasolino, Maria, Sawada, Hisashi, Daugherty, Alan, Li, Yanming, Zhang, Chen, Bradford, Yuki, Weaver, JoEllen, Verma, Anurag, Judy, Renae L., Kember, Rachel L., Overton, John D., Reid, Jeffrey G., Ferreira, Manuel A. R., Li, Alexander H., Baras, Aris, LeMaire, Scott A., Shen, Ying H., Naji, Ali, Kaestner, Klaus H., Vahedi, Golnaz, Edwards, Todd L., Chen, Jinbo, Damrauer, Scott M., Justice, Anne E., Do, Ron, Ritchie, Marylyn D., Rader, Daniel J.

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Tissue-specific expression of Ran isoforms in the mouse von Coutavas, E E, Hsieh, C M, Ren, M, Drivas, G T, Rush, M G, D'Eustachio, P D

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