检索结果 - Deborah Ritter

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  1. 1
    Transcriptional Enhancers in Protein-Coding Exons of Vertebrate Developmental Genes

    Transcriptional Enhancers in Protein-Coding Exons of Vertebrate Developmental Genes 由 Deborah Ritter, Zhiqiang Dong, Su Guo, Jeffrey H. Chuang

    出版 2012
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  2. 2
    A systematic approach to identify functional motifs within vertebrate developmental enhancers

    A systematic approach to identify functional motifs within vertebrate developmental enhancers 由 Qiang Li, Deborah Ritter, Nan Yang, Zhiqiang Dong, Hao Li, Jeffrey H. Chuang, Su Guo

    出版 2009
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  3. 3
    Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

    Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Ge... 由 Erin Rooney Riggs, Erica Andersen, Athena M. Cherry, Sibel Kantarci, Hutton M. Kearney, Ankita Patel, Gordana Raca, Deborah Ritter, Sarah T. South, Erik C. Thorland, Daniel Pineda‐Alvarez, Swaroop Aradhya, Alastair J. Martin

    出版 2019
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  4. 4
    Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

    Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Gen... 由 Erin Rooney Riggs, Erica Andersen, Athena M. Cherry, Sibel Kantarci, Hutton M. Kearney, Ankita Patel, Gordana Raca, Deborah Ritter, Sarah T. South, Erik C. Thorland, Daniel Pineda‐Alvarez, Swaroop Aradhya, Christa Lese Martin

    出版 2021
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  5. 5
    Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels

    Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels 由 Kristy Lee, Bryce A. Seifert, Hermela Shimelis, Rajarshi Ghosh, Stephanie B. Crowley, Natalie J. Carter, Kurston Doonanco, Ann Katherine M. Foreman, Deborah Ritter, Sharisse Jimenez, Mackenzie Trapp, Kenneth Offit, Sharon E. Plon, Fergus J. Couch

    出版 2018
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  6. 6
    Somatic cancer variant curation and harmonization through consensus minimum variant level data

    Somatic cancer variant curation and harmonization through consensus minimum variant level data 由 Deborah Ritter, Sameek Roychowdhury, Angshumoy Roy, Shruti Rao, Melissa Landrum, Dmitriy Sonkin, Mamatha Shekar, Caleb Davis, Reece K. Hart, Christine Micheel, Meredith Weaver, Eliezer M. Van Allen, D. Williams Parsons, Howard L. McLeod, Michael S. Watson, Sharon E. Plon, Shashikant Kulkarni, Subha Madhavan

    出版 2016
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  7. 7
    Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes

    Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes 由 Michael F. Walsh, Deborah Ritter, Chimene Kesserwan, Dmitriy Sonkin, Debyani Chakravarty, Elizabeth Chao, Rajarshi Ghosh, Yelena Kemel, Gang Wu, Kristy Lee, Shashikant Kulkarni, Dale J. Hedges, Diana Mandelker, Ozge Ceyhan‐Birsoy, Minjie Luo, Michael W. Drazer, Liying Zhang, Kenneth Offit, Sharon E. Plon

    出版 2018
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  8. 8
    The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics

    The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics 由 Alice B. Popejoy, Deborah Ritter, Kristy Crooks, Erin Currey, Stephanie M. Fullerton, Lucia A. Hindorff, Barbara A. Koenig, Erin M. Ramos, Elena P. Sorokin, Hannah Wand, Matt W. Wright, James Zou, Christopher R. Gignoux, Vence L. Bonham, Sharon E. Plon, Carlos D. Bustamante

    出版 2018
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  9. 9
    Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures

    Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures 由 Alice B. Popejoy, Kristy Crooks, Stephanie M. Fullerton, Lucia A. Hindorff, Gillian W. Hooker, Barbara A. Koenig, Natalie Pino, Erin M. Ramos, Deborah Ritter, Hannah Wand, Matt W. Wright, Michael Yudell, James Zou, Sharon E. Plon, Carlos D. Bustamante, Kelly E. Ormond

    出版 2020
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  10. 10
    Viral oncoprotein antibodies as a marker for recurrence of Merkel cell carcinoma: A prospective validation study

    Viral oncoprotein antibodies as a marker for recurrence of Merkel cell carcinoma: A prospective validation study 由 Kelly G. Paulson, Christopher W. Lewis, Mary W. Redman, William Simonson, Aaron Lisberg, Deborah Ritter, Chihiro Morishima, Kathleen Hutchinson, Lola Mudgistratova, Astrid Blom, Jayasri G. Iyer, Ata S. Moshiri, Erica S. Tarabadkar, Joseph J. Carter, Shailender Bhatia, Masaoki Kawasumi, Denise A. Galloway, Mark H. Wener, Paul Nghiem

    出版 2016
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  11. 11
    Assessing structural variation in a personal genome—towards a human reference diploid genome

    Assessing structural variation in a personal genome—towards a human reference diploid genome 由 Adam C. English, William Salerno, Oliver Hampton, Claudia Gonzaga‐Jauregui, Shruthi Ambreth, Deborah Ritter, Christine R. Beck, Caleb Davis, Mahmoud Dahdouli, Singer Ma, Andrew Carroll, Narayanan Veeraraghavan, Jeremy Bruestle, Becky Drees, Alex Hastie, Ernest T. Lam, Simon White, Pamela Mishra, Min Wang, Yi Han, Feng Zhang, Paweł Stankiewicz, David A. Wheeler, Jeffrey G. Reid, Donna M. Muzny, Jeffrey Rogers, Aniko Sabo, Kim C. Worley, James R. Lupski, Eric Boerwinkle, Richard A. Gibbs

    出版 2015
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  12. 12
    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... 由 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

    出版 2023
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  13. 13
    The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation

    The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation 由 Erica Andersen, Danielle R. Azzariti, Lawrence Babb, Jonathan S. Berg, Leslie G. Biesecker, Zo Bly, Adam H. Buchanan, Marina T. DiStefano, Li Gong, Steven M. Harrison, Jessica Ezzell Hunter, B Kattman, Teri E. Klein, Melissa Landrum, Kandamurugu Manickam, Alessandra Serrano Marroquin, Alastair J. Martin, Laura V. Milko, Aleksandar Milosavljevic, Joannella Morales, Tristan Nelson, Sharon E. Plon, Bradford C. Powell, Erin M. Ramos, Heidi L. Rehm, Erin Rooney Riggs, Deborah Ritter, Neethu Shah, Courtney Thaxton, Erik C. Thorland, Meredith Weaver, Phillip Weller, Matt W. Wright

    出版 2024
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  14. 14
    Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease

    Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease 由 Saskia N. van der Crabben, Marije P. Hennus, Grant A. McGregor, Deborah Ritter, Sandesh C.S. Nagamani, Owen S. Wells, Magdaléna Harakaľová, Iván K. Chinn, Aaron Alt, Lucie Vondrová, Ron Hochstenbach, Joris M. van Montfrans, Suzanne Terheggen‐Lagro, Stef van Lieshout, Markus J. van Roosmalen, Ivo Renkens, Karen Duran, Isaäc J. Nijman, Wigard P. Kloosterman, Eric A. M. Hennekam, Jordan S. Orange, Peter M. van Hasselt, David A. Wheeler, Jan Paleček, Alan R. Lehmann, Antony W. Oliver, Laurence H. Pearl, Sharon E. Plon, Johanne M. Murray, Gijs van Haaften

    出版 2016
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  15. 15
    A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer

    A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer 由 Alex H. Wagner, Brian Walsh, Georgia Mayfield, David Tamborero, Dmitriy Sonkin, Kilannin Krysiak, Jordi Deu-Pons, Ryan P. Duren, Jianjiong Gao, Julie A. McMurry, Sara E. Patterson, Catherine Del Vecchio Fitz, Beth A. Pitel, Uğur Sezerman, Kyle Ellrott, Jeremy L. Warner, Damian Rieke, Tero Aittokallio, Ethan Cerami, Deborah Ritter, Lynn M. Schriml, Robert R. Freimuth, Melissa Haendel, Gordana Raca, Subha Madhavan, Michael Baudis, J. Beckmann, Rodrigo Dienstmann, Debyani Chakravarty, Xuan Shirley Li, Susan M. Mockus, Olivier Elemento, Nikolaus Schultz, Núria López-Bigas, Mark Lawler, Jeremy Goecks, Malachi Griffith, Obi L. Griffith, Adam A. Margolin

    出版 2020
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    Revisão
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  16. 16
    ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines

    ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines 由 Christine G. Preston, Matt W. Wright, Rao Madhavrao, Steven M. Harrison, Jennifer Goldstein, Xi Luo, Hannah Wand, Bryan Wulf, Gloria Cheung, Mark E. Mandell, Howard Tong, Shaung Cheng, Michael A. Iacocca, Arturo López Pineda, Alice B. Popejoy, Karen Dalton, Jimmy Zhen, Selina S. Dwight, Lawrence Babb, Marina T. DiStefano, Julianne O’Daniel, Kristy Lee, Erin Rooney Riggs, Diane B. Zastrow, Jessica L. Mester, Deborah Ritter, Ronak Y. Patel, Sai Lakshmi Subramanian, Aleksander Milosavljevic, Jonathan S. Berg, Heidi L. Rehm, Sharon E. Plon, J. Michael Cherry, Carlos D. Bustamante, Helio A. Costa

    出版 2022
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  17. 17
    Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC)

    Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consort... 由 Peter Horak, Malachi Griffith, Arpad Danos, Beth A. Pitel, Subha Madhavan, Xue‐Lu Liu, Cynthia Chow, Heather Williams, Leigh Carmody, Lisa Barrow-Laing, Damian Rieke, Simon Kreutzfeldt, Albrecht Stenzinger, David Tamborero, Manuela Benary, Padma Sheila Rajagopal, Cristiane M. Ida, Harry Lesmana, Laveniya Satgunaseelan, Jason D. Merker, Michael Tolstorukov, Paulo Vidal Campregher, Jeremy L. Warner, Shruti Rao, Maya Natesan, Haolin Shen, Jeffrey M. Venstrom, Somak Roy, Kayoko Tao, Rashmi Kanagal‐Shamanna, Xinjie Xu, Deborah Ritter, Kym Pagel, Kilannin Krysiak, Adrian M. Dubuc, Yassmine Akkari, Xuan Shirley Li, Jennifer Lee, Ian King, Gordana Raca, Alex H. Wagner, Marylin M. Li, Sharon E. Plon, Shashikant Kulkarni, Obi L. Griffith, Debyani Chakravarty, Dmitriy Sonkin

    出版 2022
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  18. 18
    A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia

    A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia 由 Sohela Shah, Kasmintan A. Schrader, Esmé Waanders, Andrew E. Timms, Joseph Vijai, Cornelius Miething, Jeremy Wechsler, Jun J. Yang, James E. Hayes, Robert J. Klein, Jinghui Zhang, Lei Wei, Gang Wu, Michael Rusch, Panduka Nagahawatte, Jing Ma, Shann-Ching Chen, Guangchun Song, Jinjun Cheng, Paul A. Meyers, Deepa Bhojwani, Suresh C. Jhanwar, P. Maslak, Martin Fleisher, Jason Littman, Lily Offit, Rohini Rau‐Murthy, Megan Harlan Fleischut, Marina Corines, Rajmohan Murali, Xiaoni Gao, Christopher Manschreck, Thomas Kitzing, Vundavalli V. Murty, Susana C. Raimondi, Roland P. Kuiper, Annet Simons, Joshua D. Schiffman, Kenan Onel, Sharon E. Plon, David A. Wheeler, Deborah Ritter, David S. Ziegler, Kathy Tucker, Rosemary Sutton, Georgia Chenevix‐Trench, Jun Li, David G. Huntsman, Samantha Hansford, Janine Senz, Tom Walsh, Ming Lee, Christopher N Hahn, Kathryn G. Roberts, Mary‐Claire King, Sarah M. Lo, Ross L. Levine, Agnès Viale, Nicholas D. Socci, Katherine L. Nathanson, Hamish S. Scott, Mark J. Daly, Steven M. Lipkin, Scott W. Lowe, James R. Downing, David Altshuler, John T. Sandlund, Marshall S. Horwitz, Charles G. Mullighan, Kenneth Offit

    出版 2013
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  19. 19
    Pathogenic Germline Variants in 10,389 Adult Cancers

    Pathogenic Germline Variants in 10,389 Adult Cancers 由 Kuan‐lin Huang, R. Jay Mashl, Yige Wu, Deborah Ritter, Jiayin Wang, Clara Oh, Marta Paczkowska, Sheila M. Reynolds, Matthew A. Wyczalkowski, Ninad Oak, Adam Scott, Michał Krassowski, Andrew D. Cherniack, Kathleen E. Houlahan, Reyka G. Jayasinghe, Liang-Bo Wang, Daniel Cui Zhou, Di Liu, Song Cao, Young Won Kim, Amanda Koire, Joshua F. McMichael, Vishwanathan Hucthagowder, Tae‐Beom Kim, Abigail Hahn, Chen Wang, Michael D. McLellan, Fahd Al‐Mulla, Kimberly Johnson, Olivier Lichtarge, Paul C. Boutros, Benjamin J. Raphael, Alexander J. Lazar, Wei Zhang, Michael C. Wendl, Ramaswamy Govindan, Sanjay Jain, David A. Wheeler, Shashikant Kulkarni, John F. DiPersio, Jüri Reimand, Funda Meric‐Bernstam, Ken Chen, Ilya Shmulevich, Sharon E. Plon, Feng Chen, Li Ding, Rory Johnson, John A. Demchok, Ina Felau, Melpomeni Kasapi, Martin L. Ferguson, Carolyn M. Hutter, Heidi J. Sofia, Roy Tarnuzzer, Linghua Wang, Liming Yang, Jean C. Zenklusen, Jiashan Zhang, Sudha Chudamani, Jia Liu, Laxmi Lolla, Rashi Naresh, Todd Pihl, Qiang Sun, Yunhu Wan, Ye Wu, Juok Cho, Timothy Defreitas, Scott Frazer, Nils Gehlenborg, Gad Getz, David I. Heiman, Seungchan Kim, Michael S. Lawrence, Pei Lin, Thomas J. Giordano, Michael S. Noble, Gordon Saksena, Doug Voet, Hailei Zhang, Brady Bernard, Nyasha Chambwe, Varsha Dhankani, Theo Knijnenburg, Roger Kramer, Kalle Leinonen, Yuexin Liu, Michael B. Miller, Sheila M. Reynolds, Ilya Shmulevich, Vésteinn Thórsson, Wei Zhang, Rehan Akbani, Bradley M. Broom, Apurva M. Hegde, Zhenlin Ju, Rupa S. Kanchi, Anil Korkut, Jun Li

    出版 2018
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