Ngā hua rapu - Marcy E. Richardson

  • E whakaatu ana i te 1 - 17 hua o te 17
Whakamahine hua
  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 mā Marcy E. Richardson, Andreas Bleiziffer, Frank Tüttelmann, Jörg Gromoll, Miles Wilkinson

    I whakaputaina 2013
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  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 mā Carolyn Horton, Holly LaDuca, Ashley Deckman, Kate Durda, Michelle Jackson, Marcy E. Richardson, Yuan Tian, Amal Yussuf, Kory Jasperson, Tobias Else

    I whakaputaina 2022
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  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 mā Brittany Bychkovsky, Nihat Buğra Ağaoğlu, Carolyn Horton, Linda M. Polfus, Marcy E. Richardson, Colin C. Young, Rochelle Scheib, Judy E. Garber, Huma Rana

    I whakaputaina 2025
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  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 mā 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

    I whakaputaina 2019
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  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 mā 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

    I whakaputaina 2021
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  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 mā 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

    I whakaputaina 2013
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  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 mā 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

    I whakaputaina 2023
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  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> mā 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

    I whakaputaina 2022
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  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 mā 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

    I whakaputaina 2021
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  10. 10
    The Homeobox Transcription Factor RHOX10 Drives Mouse Spermatogonial Stem Cell Establishment

    The Homeobox Transcription Factor RHOX10 Drives Mouse Spermatogonial Stem Cell Establishment mā 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

    I whakaputaina 2016
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  11. 11
    BRCA1 frameshift variants leading to extended incorrect protein C termini

    BRCA1 frameshift variants leading to extended incorrect protein C termini mā 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

    I whakaputaina 2023
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  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 mā 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

    I whakaputaina 2020
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  13. 13
    Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer

    Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer mā 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

    I whakaputaina 2019
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  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 mā 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

    I whakaputaina 2024
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  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... mā 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

    I whakaputaina 2023
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  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 mā 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

    I whakaputaina 2024
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  17. 17
    Functional evaluation and clinical classification of BRCA2 variants

    Functional evaluation and clinical classification of BRCA2 variants mā 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

    I whakaputaina 2025
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:

Ngā utauta rapu: