Søgeresultater - Marcy E. Richardson

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  1. 1
    Epigenetic regulation of the RHOX homeobox gene cluster and its association with human male infertility

    Epigenetic regulation of the RHOX homeobox gene cluster and its association with human male infertility af Marcy E. Richardson, Andreas Bleiziffer, Frank Tüttelmann, Jörg Gromoll, Miles Wilkinson

    Udgivet 2013
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  2. 2
    Universal Germline Panel Testing for Individuals With Pheochromocytoma and Paraganglioma Produces High Diagnostic Yield

    Universal Germline Panel Testing for Individuals With Pheochromocytoma and Paraganglioma Produces High Diagnostic Yield af Carolyn Horton, Holly LaDuca, Ashley Deckman, Kate Durda, Michelle Jackson, Marcy E. Richardson, Yuan Tian, Amal Yussuf, Kory Jasperson, Tobias Else

    Udgivet 2022
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  3. 3
    Double <i>CHEK2</i> Pathogenic and Low-Risk Variants and Associated Cancer Phenotypes

    Double <i>CHEK2</i> Pathogenic and Low-Risk Variants and Associated Cancer Phenotypes af Brittany Bychkovsky, Nihat Buğra Ağaoğlu, Carolyn Horton, Linda M. Polfus, Marcy E. Richardson, Colin C. Young, Rochelle Scheib, Judy E. Garber, Huma Rana

    Udgivet 2025
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  4. 4
    Rare <i>BRIP1</i> Missense Alleles Confer Risk for Ovarian and Breast Cancer

    Rare <i>BRIP1</i> Missense Alleles Confer Risk for Ovarian and Breast Cancer af Cassandra L. Moyer, Jennifer Ivanovich, Jessica L. Gillespie, Rachel Doberstein, Marc R. Radke, Marcy E. Richardson, Scott H. Kaufmann, Elizabeth M. Swisher, Paul J. Goodfellow

    Udgivet 2019
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  5. 5
    Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN

    Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN af Shawn Fayer, Carolyn Horton, Jennifer N. Dines, Alan F. Rubin, Marcy E. Richardson, Kelly McGoldrick, Felicia Hernandez, Tina Pesaran, Rachid Karam, Brian H. Shirts, Douglas M. Fowler, Lea M. Starita

    Udgivet 2021
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  6. 6
    Targeted DNA demethylation and activation of endogenous genes using programmable TALE-TET1 fusion proteins

    Targeted DNA demethylation and activation of endogenous genes using programmable TALE-TET1 fusion proteins af Morgan L. Maeder, James Angstman, Marcy E. Richardson, Samantha J Linder, Vincent Cascio, Shengdar Q. Tsai, Quan Ho, Jeffry D. Sander, Deepak Reyon, B Bernstein, J Costello, Miles Wilkinson, J. Keith Joung

    Udgivet 2013
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  7. 7
    Diagnostic Outcomes of Concurrent DNA and RNA Sequencing in Individuals Undergoing Hereditary Cancer Testing

    Diagnostic Outcomes of Concurrent DNA and RNA Sequencing in Individuals Undergoing Hereditary Cancer Testing af Carolyn Horton, Lily Hoang, Heather Zimmermann, Colin C. Young, Jessica Grzybowski, Kate Durda, Huy Gia Vuong, David Burks, Ashley Cass, Holly LaDuca, Marcy E. Richardson, Steven M. Harrison, Elizabeth Chao, Rachid Karam

    Udgivet 2023
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  8. 8
    Differences in Cancer Phenotypes Among Frequent <i>CHEK2</i> Variants and Implications for Clinical Care—Checking <i>CHEK2</i>

    Differences in Cancer Phenotypes Among Frequent <i>CHEK2</i> Variants and Implications for Clinical Care—Checking <i>CHEK2</i> af Brittany Bychkovsky, Nihat Buğra Ağaoğlu, Carolyn Horton, Jing Zhou, Amal Yussuf, Parichehr Hemyari, Marcy E. Richardson, Colin C. Young, Holly LaDuca, Deborah L. McGuinness, Rochelle Scheib, Judy E. Garber, Huma Q. Rana

    Udgivet 2022
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  9. 9
    Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance

    Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance af Marcy E. Richardson, Chunling Hu, Kun Y. Lee, Holly LaDuca, Kelly Fulk, Kate Durda, Ashley Deckman, David E. Goldgar, Álvaro N.A. Monteiro, Rohan Gnanaolivu, Steven N. Hart, Eric C. Polley, Elizabeth Chao, Tina Pesaran, Fergus J. Couch

    Udgivet 2021
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  10. 10
    The Homeobox Transcription Factor RHOX10 Drives Mouse Spermatogonial Stem Cell Establishment

    The Homeobox Transcription Factor RHOX10 Drives Mouse Spermatogonial Stem Cell Establishment af H. C. Song, Anilkumar Bettegowda, Blue B. Lake, A ZHAO, David Skarbrevik, Eric Babajanian, Meena Sukhwani, Eleen Y. Shum, Mimi H. Phan, Terra‐Dawn M. Plank, Marcy E. Richardson, Madhuvanthi Ramaiah, Vaishnavi Sridhar, Dirk G. de Rooij, Kyle E. Orwig, Kun Zhang, Miles Wilkinson

    Udgivet 2016
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  11. 11
    BRCA1 frameshift variants leading to extended incorrect protein C termini

    BRCA1 frameshift variants leading to extended incorrect protein C termini af Thales C. Nepomuceno, Tzeh Keong Foo, Marcy E. Richardson, John Michael O. Rañola, Jamie Weyandt, Matthew J. Varga, Amaya Alarcon, Diana Gutiérrez, Anna von Wachenfeldt, Daniel Eriksson, Raymond H. Kim, Susan Randall Armel, Edwin S. Iversen, Fergus J. Couch, Åke Borg, Bing Xia, Marcelo A. Carvalho, Álvaro N.A. Monteiro

    Udgivet 2023
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  12. 12
    Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance

    Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance af Paulo C. Lyra, Thales C. Nepomuceno, Marcele Lorentz Mattos de Souza, Géssica F. Machado, Mariana Friedrich Veloso, Taciane Barbosa Henriques, Diandra Zipinotti dos Santos, Iuly G. Ribeiro, Roberto Silva Ribeiro, Letícia Batista Azevedo Rangel, Marcy E. Richardson, Edwin S. Iversen, David E. Goldgar, Fergus J. Couch, Marcelo A. Carvalho, Álvaro N.A. Monteiro

    Udgivet 2020
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  13. 13
    Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer

    Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer af Rachid Karam, Blair R. Conner, Holly LaDuca, Kelly McGoldrick, Kate Krempely, Marcy E. Richardson, Heather Zimmermann, Stephanie Gutierrez, Patrick Reineke, Lily Hoang, Kyle Allen, Amal Yussuf, Suzette Farber-Katz, Huma Q. Rana, Samantha Culver, John Lee, Sarah Nashed, Deborah Toppmeyer, Debra L. Collins, Ginger Haynes, Tina Pesaran, Jill S. Dolinsky, Brigette Tippin Davis, Aaron Elliott, Elizabeth Chao

    Udgivet 2019
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  14. 14
    Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain

    Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain af Chunling Hu, Huaizhi Huang, Jie Na, Carolyn A. Lumby, Mohamed Abozaid, Megan Holdren, T. Jagan Mohan Rao, Rachid Karam, Tina Pesaran, Jamie Weyandt, Christen M. Csuy, Christina Seelaus, Colin C. Young, Kelly Fulk, Zahra Heidari, Paulo C. Lyra, Ronan E. Couch, Benjamin Persons, Eric C. Polley, Rohan Gnanaolivu, Nicholas J. Boddicker, Álvaro N.A. Monteiro, Siddhartha Yadav, Susan M. Domchek, Marcy E. Richardson, Fergus J. Couch

    Udgivet 2024
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  15. 15
    Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel

    Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Pa... af Isabel Spier, Xiaoyu Yin, Marcy E. Richardson, Marta Pineda, Andreas Laner, Deborah Ritter, Julie Boyle, Pilar Mur, Thomas van Overeem Hansen, Xuemei Shi, Khalid Mahmood, John‐Paul Plazzer, Elisabet Ognedal, Margareta Nordling, Susan M. Farrington, Gou Yamamoto, Stéphanie Baert‐Desurmont, Alexandra Martins, Ester Borràs, Carli M.J. Tops, Erica Webb, Victoria Beshay, Maurizio Genuardi, Tina Pesaran, Gabriel Capellà, Sean V. Tavtigian, Andrew Latchford, Ian M. Frayling, Sharon E. Plon, Marc S. Greenblatt, Finlay Macrae, Stefan Aretz

    Udgivet 2023
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  16. 16
    Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

    Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel af Michael T. Parsons, Miguel de la Hoya, Marcy E. Richardson, Emma Tudini, Michael G. Anderson, Windy Berkofsky‐Fessler, Sandrine M. Caputo, Raymond C. Chan, Melissa Cline, Bing Feng, Cristina Fortuño, E. Gómez, Johanna Hadler, Susan Hiraki, Megan Holdren, Claude Houdayer, Kathleen S. Hruska, Paul A. James, Rachid Karam, Huei San Leong, Alexandra Martins, Arjen R. Mensenkamp, Álvaro N.A. Monteiro, Vaishnavi Nathan, Robert O’Connor, Inge Søkilde Pedersen, Tina Pesaran, Paolo Radice, Gunnar Schmidt, Melissa C. Southey, Sean V. Tavtigian, Bryony A. Thompson, Amanda E. Toland, Clare Turnbull, Maartje J. Vogel, Jamie Weyandt, George A. R. Wiggins, Lauren Zec, Fergus J. Couch, Logan C. Walker, Maaike P.G. Vreeswijk, David E. Goldgar, Amanda B. Spurdle

    Udgivet 2024
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  17. 17
    Functional evaluation and clinical classification of BRCA2 variants

    Functional evaluation and clinical classification of BRCA2 variants af Huaizhi Huang, Chunling Hu, Jie Na, Steven N. Hart, Rohan Gnanaolivu, Mohamed Abozaid, Tara Rao, Yohannes A. Tecleab, Christine B. Ambrosone, Song Yao, Amy Trentham-Dietz, A. Heather Eliassen, Lauren R. Teras, Alpa V. Patel, Christopher A. Haiman, Esther M. John, Elena Martínez, James V. Lacey, Dale P. Sandler, Clarice R. Weinberg, Julie R. Palmer, Celine M. Vachon, Janet E. Olson, Kathryn J. Ruddy, Hoda Anton Culver, Jeffrey N. Weitzel, Peter Kraft, Tina Pesaran, Paulo C. Lyra, Rachid Karam, Siddhartha Yadav, Katherine L. Nathanson, Susan M. Domchek, Miguel de la Hoya, Mark E. Robson, Miika Mehine, Chaitanya Bandlamudi, Diana Mandelker, Álvaro N.A. Monteiro, Edwin S. Iversen, Nicholas J. Boddicker, Wenan Chen, Marcy E. Richardson, Fergus J. Couch

    Udgivet 2025
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