檢索結果 - Rachid Karam

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  1. 1
    Regulation of nonsense-mediated mRNA decay: Implications for physiology and disease

    Regulation of nonsense-mediated mRNA decay: Implications for physiology and disease 由 Rachid Karam, Jordan Wengrod, Lawrence B. Gardner, Miles Wilkinson

    出版 2013
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  2. 2
    Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome

    Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome 由 Anthony Scott, Felicia Hernandez, Adam Chamberlin, Cathy Smith, Rachid Karam, Jacob O. Kitzman

    出版 2022
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  3. 3
    The unfolded protein response is shaped by the <scp>NMD</scp> pathway

    The unfolded protein response is shaped by the <scp>NMD</scp> pathway 由 Rachid Karam, Chih‐Hong Lou, Heike Kroeger, Lulu Huang, Jonathan H. Lin, Miles Wilkinson

    出版 2015
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  4. 4
    Genetics of gastric cancer: what do we know about the genetic risks?

    Genetics of gastric cancer: what do we know about the genetic risks? 由 Thomas P. Slavin, Jeffrey N. Weitzel, Susan L. Neuhausen, Kasmintan A. Schrader, Carla Oliveíra, Rachid Karam

    出版 2019
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  5. 5
    Posttranscriptional Control of the Stem Cell and Neurogenic Programs by the Nonsense-Mediated RNA Decay Pathway

    Posttranscriptional Control of the Stem Cell and Neurogenic Programs by the Nonsense-Mediated RNA Decay Pathway 由 Chih H. Lou, Ada Shao, Eleen Y. Shum, Josh L. Espinoza, Lulu Huang, Rachid Karam, Miles Wilkinson

    出版 2014
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  6. 6
    Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes

    Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes 由 Tina Pesaran, Rachid Karam, Robert Huether, S. Li, Suzette Farber-Katz, Adam Chamberlin, Hansook Kim Chong, Holly LaDuca, Aaron Elliott

    出版 2016
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  7. 7
    RNA Homeostasis Governed by Cell Type-Specific and Branched Feedback Loops Acting on NMD

    RNA Homeostasis Governed by Cell Type-Specific and Branched Feedback Loops Acting on NMD 由 Lulu Huang, Chih-Hong Lou, Waikin Chan, Eleen Y. Shum, Ada Shao, Erica L. Stone, Rachid Karam, Hye-Won Song, Miles Wilkinson

    出版 2011
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  8. 8
    Clinical features and cancer risk in families with pathogenic<i>CDH1</i>variants irrespective of clinical criteria

    Clinical features and cancer risk in families with pathogenic<i>CDH1</i>variants irrespective of clinical criteria 由 Rosa M. Xicola, Shuwei Li, Nicolette J. Rodriguez, Patrick Reinecke, Rachid Karam, Virginia Speare, Mary Helen Black, Holly LaDuca, Xavier Llor

    出版 2019
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  9. 9
    Identification of a MicroRNA that Activates Gene Expression by Repressing Nonsense-Mediated RNA Decay

    Identification of a MicroRNA that Activates Gene Expression by Repressing Nonsense-Mediated RNA Decay 由 Ivone G. Bruno, Rachid Karam, Lulu Huang, Anjana Bhardwaj, Chih H. Lou, Eleen Y. Shum, Hye-Won Song, Mark Corbett, Wesley D. Gifford, Jozef Gécz, Samuel L. Pfaff, Miles Wilkinson

    出版 2011
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  10. 10
    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 由 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

    出版 2021
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  11. 11
    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 由 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

    出版 2023
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  12. 12
    Quantification of Epigenetic and Genetic 2nd Hits in CDH1 During Hereditary Diffuse Gastric Cancer Syndrome Progression

    Quantification of Epigenetic and Genetic 2nd Hits in CDH1 During Hereditary Diffuse Gastric Cancer Syndrome Progression 由 Carla Oliveíra, Sónia Sousa, Hugo Pinheiro, Rachid Karam, Renata Bordeira–Carriço, Janine Senz, Pardeep Kaurah, Joana Carvalho, Rui Pereira, Leonor Gusmão, Xiaogang Wen, Maria Augusta Cipriano, Jun Yokota, Fátima Carneiro, David G. Huntsman, Raquel Seruca

    出版 2009
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  13. 13
    Gene‐specific criteria for <i>PTEN</i> variant curation: Recommendations from the ClinGen PTEN Expert Panel

    Gene‐specific criteria for <i>PTEN</i> variant curation: Recommendations from the ClinGen PTEN Expert Panel 由 Jessica L. Mester, Rajarshi Ghosh, Tina Pesaran, Robert Huether, Rachid Karam, Kathleen S. Hruska, Helio A. Costa, Katherine Lachlan, Joanne Ngeow, Jill S. Barnholtz‐Sloan, Kaitlin Sesock, Felicia Hernandez, Liying Zhang, Laura V. Milko, Sharon E. Plon, Madhuri Hegde, Charis Eng

    出版 2018
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  14. 14
    The UPF1 RNA surveillance gene is commonly mutated in pancreatic adenosquamous carcinoma

    The UPF1 RNA surveillance gene is commonly mutated in pancreatic adenosquamous carcinoma 由 Chen Liu, Rachid Karam, Yingqi Zhou, Fang Su, Yuan Ji, Gang Li, Guo‐Tong Xu, Lixia Lü, Chongren Wang, Meiyi Song, Jingping Zhu, Yiran Wang, Yifan Zhao, Wai Chin Foo, Mingxin Zuo, Mark A. Valasek, Milind Javle, Miles Wilkinson, Yanjun Lu

    出版 2014
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  15. 15
    Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer

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

    出版 2019
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  16. 16
    Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer

    Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer 由 Thierry Frébourg, Carla Oliveíra, Patrick Hochain, Rachid Karam, Sylvie Manouvrier, Carla Graziadio, Michel Vekemans, A Hartmann, Stéphanie Baert‐Desurmont, C Alexandre, S Lejeune Dumoulin, Cláudio Augusto Marroni, Cosette Martin, Sérgio Castedo, Michael Lovett, Janet S. Winston, José Carlos Machado, Tania Attié‐Bitach, Ethylin Wang Jabs, Juanliang Cai, P. Pellerin, J.-P. Triboulet, Michel Scotté, Florence Le Pessot, A Hedouin, Fátima Carneiro, Martine Blayau, Raquel Seruca

    出版 2005
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  17. 17
    Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline <i>CDH1</i> sequence variants

    Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline <i>CDH1</i> sequence variants 由 Kristy Lee, Kate Krempely, Maegan E. Roberts, Michael J. Anderson, Fátima Carneiro, Elizabeth Chao, Katherine Dixon, Joana Figueiredo, Rajarshi Ghosh, David G. Huntsman, Pardeep Kaurah, Chimene Kesserwan, Tyler Landrith, Shuwei Li, Arjen R. Mensenkamp, Carla Oliveíra, Carolina Pardo‐Díaz, Tina Pesaran, Matthew Richardson, Thomas P. Slavin, Amanda B. Spurdle, Mackenzie Trapp, Leora Witkowski, Charles Sunghoon Yi, Liying Zhang, Sharon E. Plon, Kasmintan A. Schrader, Rachid Karam

    出版 2018
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  18. 18
    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 由 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

    出版 2024
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  19. 19
    Targeting cellular heterogeneity with CXCR2 blockade for the treatment of therapy-resistant prostate cancer

    Targeting cellular heterogeneity with CXCR2 blockade for the treatment of therapy-resistant prostate cancer 由 Yanjing Li, Yiping He, William Butler, Lingfan Xu, Yan Chang, Kefeng Lei, Hong Zhang, Yinglu Zhou, Allen C. Gao, Qingfu Zhang, Daniel Taylor, Donghui Cheng, Suzette Farber-Katz, Rachid Karam, Tyler Landrith, Bing Li, Sitao Wu, Vickie Hsuan, Qing Yang, Hailiang Hu, Xufeng Chen, Melissa Flowers, Shannon J. McCall, John K. Lee, B. Smith, Jung Wook Park, Andrew S. Goldstein, Owen N. Witte, Qianben Wang, Matthew B. Rettig, Andrew J. Armstrong, Qing Cheng, Jiaoti Huang

    出版 2019
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  20. 20
    Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

    Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup 由 Logan C. Walker, Miguel de la Hoya, George A. R. Wiggins, Amanda Lindy, Lisa M. Vincent, Michael T. Parsons, Daffodil M. Canson, Dana M. Bis‐Brewer, Ashley Cass, Alexander Tchourbanov, Heather Zimmermann, Alicia B. Byrne, Tina Pesaran, Rachid Karam, Steven M. Harrison, Amanda B. Spurdle, Leslie G. Biesecker, Steven M. Harrison, Ahmad Abou Tayoun, Jonathan S. Berg, Steven E. Brenner, Garry R. Cutting, Sian Ellard, Marc S. Greenblatt, Peter B. Kang, Izabela Karbassi, Rachel Karchin, Jessica L. Mester, Anne O’Donnell‐Luria, Tina Pesaran, Sharon E. Plon, Heidi L. Rehm, Natasha T. Strande, Sean V. Tavtigian, Scott Topper

    出版 2023
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