Hasil Pencarian - Marcy Richardson
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P690: Integration of protein stability and structural context scores improves bioinformatics predictions for BRCA1 and TP53 gene variants oleh Nitsan Rotenberg, Lobna Ramadane-Morchadi, Matthew Varga, Adam Chamberlin, Marcy Richardson, Cristina Fortuno, Miguel de la Hoya, Amanda Spurdle
Diterbitkan 2024-01-01
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P074: Characterization of complex hereditary cancer associated germline variants with long read sequencing oleh Sami Belhadj, Felicia Hernandez, Terra Brannan, Colin Young, Jesus Ramirez Castano, Cassidy Carraway, Jessica Grzybowski, Carolyn Horton, Marcy Richardson, Rachid Karam
Diterbitkan 2024-01-01
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Prevalence of pathogenic variants in DNA damage response and repair genes in patients undergoing cancer risk assessment and reporting a personal history of early-onset renal cancer oleh Tiffiney R. Hartman, Elena V. Demidova, Randy W. Lesh, Lily Hoang, Marcy Richardson, Andrea Forman, Lisa Kessler, Virginia Speare, Erica A. Golemis, Michael J. Hall, Mary B. Daly, Sanjeevani Arora
Diterbitkan 2020-08-01
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P061: ATM and PALB2 variant curation guidelines progress update: ClinGen Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel oleh Megan Holdren, Marcy Richardson, Deborah Ritter, Colin Young, Terra Brannan, Tina Pesaran, Lauren Zec, Susan Hiraki, Michael Anderson, Melissa Southey, Clare Turnbull, Marc Tischkowitz, Huma Rana, Shannon McNulty Gray, Sean Tavtigian, Logan Walker, William Foulkes, Alvaro Monteiro, Sarah Brnich, Melissa Cline, Amanda Spurdle, Miguel de la Hoya, Fergus Couch
Diterbitkan 2023-01-01
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Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management oleh Giovanni Innella, Cristina Fortuno, Laura Caleca, Bing‐Jian Feng, Courtney Carroll, Michael T. Parsons, Sara Miccoli, Marco Montagna, Daniele Calistri, Laura Cortesi, Barbara Pasini, Siranoush Manoukian, Daniela Giachino, Laura Matricardi, Maria Cristina Foti, Valentina Zampiga, Claudia Piombino, Elena Barbieri, Francesca Vignolo Lutati, Jacopo Azzolini, Rita Danesi, Valentina Arcangeli, Sandrine M. Caputo, Nadia Boutry‐Kryza, Vincent Goussot, Susan Hiraki, Marcy Richardson, Hereditary Breast/Ovarian Cancer IOV network (HBOC IOVnet), Simona Ferrari, Paolo Radice, Amanda B. Spurdle, Daniela Turchetti
Diterbitkan 2024-08-01
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P076: The ClinGen ENIGMA BRCA1/2 expert panel: A dynamic framework for evidence-based recommendations to improve classification criteria for variants in BRCA1/2* oleh Michael Parsons, Michael Anderson, Windy Berkofsky-Fessler, Sandrine Caputo, Raymond Chan, Melissa Cline, Fergus Couch, Miguel de la Hoya, Bing-Jian Feng, David Goldgar, Encarna Gomez-Garcia, Susan Hiraki, Megan Holdren, Claude Houdayer, Paul James, Rachid Karam, Huei San Leong, Alexandra Martins, Arjen Mensenkamp, Alvaro Monteiro, Vaishnavi Nathan, Robert O'Connor, Tina Pesaran, Paolo Radice, Marcy Richardson, Gunnar Schmidt, Inge Sokilde Pedersen, Melissa Southey, Sean Tavtigian, Bryony Thompson, Amanda Toland, Emma Tudini, Clare Turnbull, Maaike Vreeswijk, Logan Walker, Lauren Zec, Amanda Spurdle
Diterbitkan 2023-01-01
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