Search Results - Debora S Marks
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An Atlas of Variant Effects to understand the genome at nucleotide resolution by Douglas M. Fowler, David J. Adams, Anna L. Gloyn, William C. Hahn, Debora S. Marks, Lara A. Muffley, James T. Neal, Frederick P. Roth, Alan F. Rubin, Lea M. Starita, Matthew E. Hurles
Published in Genome Biology (2023-07-01)Get full text
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Multiplexed measurement of variant abundance and activity reveals VKOR topology, active site and human variant impact by Melissa A Chiasson, Nathan J Rollins, Jason J Stephany, Katherine A Sitko, Kenneth A Matreyek, Marta Verby, Song Sun, Frederick P Roth, Daniel DeSloover, Debora S Marks, Allan E Rettie, Douglas M Fowler
Published in eLife (2020-09-01)Get full text
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Simultaneous enhancement of multiple functional properties using evolution-informed protein design by Benjamin Fram, Yang Su, Ian Truebridge, Adam J. Riesselman, John B. Ingraham, Alessandro Passera, Eve Napier, Nicole N. Thadani, Samuel Lim, Kristen Roberts, Gurleen Kaur, Michael A. Stiffler, Debora S. Marks, Christopher D. Bahl, Amir R. Khan, Chris Sander, Nicholas P. Gauthier
Published in Nature Communications (2024-06-01)Get full text
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Guidelines for releasing a variant effect predictor by Benjamin J. Livesey, Mihaly Badonyi, Mafalda Dias, Jonathan Frazer, Sushant Kumar, Kresten Lindorff-Larsen, David M. McCandlish, Rose Orenbuch, Courtney A. Shearer, Lara Muffley, Julia Foreman, Andrew M. Glazer, Ben Lehner, Debora S. Marks, Frederick P. Roth, Alan F. Rubin, Lea M. Starita, Joseph A. Marsh
Published in Genome Biology (2025-04-01)Get full text
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MaveDB 2024: a curated community database with over seven million variant effects from multiplexed functional assays by Alan F. Rubin, Jeremy Stone, Aisha Haley Bianchi, Benjamin J. Capodanno, Estelle Y. Da, Mafalda Dias, Daniel Esposito, Jonathan Frazer, Yunfan Fu, Sally B. Grindstaff, Matthew R. Harrington, Iris Li, Abbye E. McEwen, Joseph K. Min, Nick Moore, Olivia G. Moscatelli, Jesslyn Ong, Polina V. Polunina, Joshua E. Rollins, Nathan J. Rollins, Ashley E. Snyder, Amy Tam, Matthew J. Wakefield, Shenyi Sunny Ye, Lea M. Starita, Vanessa L. Bryant, Debora S. Marks, Douglas M. Fowler
Published in Genome Biology (2025-01-01)Get full text
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Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration by Stefan Groeneweg, Ferdy S. van Geest, Mariano Martín, Mafalda Dias, Jonathan Frazer, Carolina Medina-Gomez, Rosalie B. T. M. Sterenborg, Hao Wang, Anna Dolcetta-Capuzzo, Linda J. de Rooij, Alexander Teumer, Ayhan Abaci, Erica L. T. van den Akker, Gautam P. Ambegaonkar, Christine M. Armour, Iiuliu Bacos, Priyanka Bakhtiani, Diana Barca, Andrew J. Bauer, Sjoerd A. A. van den Berg, Amanda van den Berge, Enrico Bertini, Ingrid M. van Beynum, Nicola Brunetti-Pierri, Doris Brunner, Marco Cappa, Gerarda Cappuccio, Barbara Castellotti, Claudia Castiglioni, Krishna Chatterjee, Alexander Chesover, Peter Christian, Jet Coenen-van der Spek, Irenaeus F. M. de Coo, Regis Coutant, Dana Craiu, Patricia Crock, Christian DeGoede, Korcan Demir, Cheyenne Dewey, Alice Dica, Paul Dimitri, Marjolein H. G. Dremmen, Rachana Dubey, Anina Enderli, Jan Fairchild, Jonathan Gallichan, Luigi Garibaldi, Belinda George, Evelien F. Gevers, Erin Greenup, Annette Hackenberg, Zita Halász, Bianka Heinrich, Anna C. Hurst, Tony Huynh, Amber R. Isaza, Anna Klosowska, Marieke M. van der Knoop, Daniel Konrad, David A. Koolen, Heiko Krude, Abhishek Kulkarni, Alexander Laemmle, Stephen H. LaFranchi, Amy Lawson-Yuen, Jan Lebl, Selmar Leeuwenburgh, Michaela Linder-Lucht, Anna López Martí, Cláudia F. Lorea, Charles M. Lourenço, Roelineke J. Lunsing, Greta Lyons, Jana Krenek Malikova, Edna E. Mancilla, Kenneth L. McCormick, Anne McGowan, Veronica Mericq, Felipe Monti Lora, Carla Moran, Katalin E. Muller, Lindsey E. Nicol, Isabelle Oliver-Petit, Laura Paone, Praveen G. Paul, Michel Polak, Francesco Porta, Fabiano O. Poswar, Christina Reinauer, Klara Rozenkova, Rowen Seckold, Tuba Seven Menevse, Peter Simm, Anna Simon, Yogen Singh, Marco Spada, Milou A. M. Stals, Merel T. Stegenga, Athanasia Stoupa, Gopinath M. Subramanian, Lilla Szeifert, Davide Tonduti, Serap Turan, Joel Vanderniet, Adri van der Walt, Jean-Louis Wémeau, Anne-Marie van Wermeskerken, Jolanta Wierzba, Marie-Claire Y. de Wit, Nicole I. Wolf, Michael Wurm, Federica Zibordi, Amnon Zung, Nitash Zwaveling-Soonawala, Fernando Rivadeneira, Marcel E. Meima, Debora S. Marks, Juan P. Nicola, Chi-Hua Chen, Marco Medici, W. Edward Visser
Published in Nature Communications (2025-03-01)Get full text
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