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1دورية أكاديمية
المؤلفون: Christine G. Preston, Matt W. Wright, Rao Madhavrao, Steven M. Harrison, Jennifer L. Goldstein, Xi Luo, Hannah Wand, Bryan Wulf, Gloria Cheung, Mark E. Mandell, Howard Tong, Shaung Cheng, Michael A. Iacocca, Arturo Lopez Pineda, Alice B. Popejoy, Karen Dalton, Jimmy Zhen, Selina S. Dwight, Lawrence Babb, Marina DiStefano, Julianne M. O’Daniel, Kristy Lee, Erin R. Riggs, Diane B. Zastrow, Jessica L. Mester, Deborah I. 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, on behalf of the Clinical Genome Resource (ClinGen)
المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-12 (2022)
مصطلحات موضوعية: Variant curation, Precision medicine, Clinical genetics, Clinical Genome Resource Consortium, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1756-994XTest
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2دورية أكاديمية
المؤلفون: Arpad M. Danos, Kilannin Krysiak, Erica K. Barnell, Adam C. Coffman, Joshua F. McMichael, Susanna Kiwala, Nicholas C. Spies, Lana M. Sheta, Shahil P. Pema, Lynzey Kujan, Kaitlin A. Clark, Amber Z. Wollam, Shruti Rao, Deborah I. Ritter, Dmitriy Sonkin, Gordana Raca, Wan-Hsin Lin, Cameron J. Grisdale, Raymond H. Kim, Alex H. Wagner, Subha Madhavan, Malachi Griffith, Obi L. Griffith
المصدر: Genome Medicine, Vol 11, Iss 1, Pp 1-12 (2019)
مصطلحات موضوعية: Cancer, Variant, Curation, Standard operating procedure, Knowledgebase, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1756-994XTest
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3دورية أكاديمية
المؤلفون: Deborah I. Ritter, Sameek Roychowdhury, Angshumoy Roy, Shruti Rao, Melissa J. Landrum, Dmitriy Sonkin, Mamatha Shekar, Caleb F. Davis, Reece K. Hart, Christine Micheel, Meredith Weaver, Eliezer M. Van Allen, Donald W. Parsons, Howard L. McLeod, Michael S. Watson, Sharon E. Plon, Shashikant Kulkarni, Subha Madhavan, on behalf of the ClinGen Somatic Cancer Working Group
المصدر: Genome Medicine, Vol 8, Iss 1, Pp 1-9 (2016)
مصطلحات موضوعية: Cancer genomics, Somatic variant interpretation, Data standard, Somatic variant curation, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13073-016-0367-zTest; https://doaj.org/toc/1756-994XTest
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المؤلفون: Kilannin Krysiak, Arpad M Danos, Jason Saliba, Joshua F McMichael, Adam C Coffman, Susanna Kiwala, Erica K Barnell, Lana Sheta, Cameron J Grisdale, Lynzey Kujan, Shahil Pema, Jake Lever, Sarah Ridd, Nicholas C Spies, Veronica Andric, Andreea Chiorean, Damian T Rieke, Kaitlin A Clark, Caralyn Reisle, Ajay C Venigalla, Mark Evans, Payal Jani, Hideaki Takahashi, Avila Suda, Peter Horak, Deborah I Ritter, Xin Zhou, Benjamin J Ainscough, Sean Delong, Chimene Kesserwan, Mario Lamping, Haolin Shen, Alex R Marr, My H Hoang, Kartik Singhal, Mariam Khanfar, Brian V Li, Wan-Hsin Lin, Panieh Terraf, Laura B Corson, Yasser Salama, Katie M Campbell, Kirsten M Farncombe, Jianling Ji, Xiaonan Zhao, Xinjie Xu, Rashmi Kanagal-Shamanna, Ian King, Kelsy C Cotto, Zachary L Skidmore, Jason R Walker, Jinghui Zhang, Aleksandar Milosavljevic, Ronak Y Patel, Rachel H Giles, Raymond H Kim, Lynn M Schriml, Elaine R Mardis, Steven J M Jones, Gordana Raca, Shruti Rao, Subha Madhavan, Alex H Wagner, Malachi Griffith, Obi L Griffith
المصدر: Nucleic Acids Research. 51:D1230-D1241
مصطلحات موضوعية: Genetics
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8da3f7e2345c9e1528df39d430b1e5ceTest
https://doi.org/10.1093/nar/gkac979Test -
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المؤلفون: Dena Salehipour, Kirsten M Farncombe, Veronica Andric, Safa Ansar, Sean Delong, Eric Li, Samantha Macpherson, Sarah Ridd, Deborah I Ritter, Courtney Thaxton, Raymond H Kim
المصدر: Database. 2023
مصطلحات موضوعية: General Agricultural and Biological Sciences, General Biochemistry, Genetics and Molecular Biology, Information Systems
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c42295a163888ca0bc347dc406b5ebc5Test
https://doi.org/10.1093/database/baac109Test -
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المؤلفون: Jason Saliba, Alanna J. Church, Shruti Rao, Arpad Danos, Larissa V. Furtado, Theodore Laetsch, Liying Zhang, Valentina Nardi, Wan-Hsin Lin, Deborah I. Ritter, Subha Madhavan, Marilyn M. Li, Obi L. Griffith, Malachi Griffith, Gordana Raca, Angshumoy Roy
المصدر: Cancer Genet
مصطلحات موضوعية: Adult, Cancer Research, Oncogene Proteins, Fusion, Carcinogenesis, Oncology and Carcinogenesis, Article, oncogenicity, Neoplasms, reading-frame, Genetics, Biomarkers, Tumor, Humans, pathogenicity, Oncology & Carcinogenesis, Receptor, trkA, Fusion, Child, Molecular Biology, Adaptor Proteins, Signal Transducing, Cancer, Oncogene Proteins, Tumor, Signal Transducing, Adaptor Proteins, curation, Cytoskeletal Proteins, Good Health and Well Being, trkA, biomarker, Gene Fusion, actionable, Biomarkers, Receptor, Biotechnology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::394282add06e047fa1d25041606db4beTest
https://escholarship.org/uc/item/5jv62951Test -
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المؤلفون: Kilannin Krysiak, Arpad M. Danos, Susanna Kiwala, Joshua F. McMichael, Adam C. Coffman, Erica K. Barnell, Lana Sheta, Jason Saliba, Cameron J. Grisdale, Lynzey Kujan, Shahil Pema, Jake Lever, Nicholas C. Spies, Andreea Chiorean, Damian T. Rieke, Kaitlin A. Clark, Payal Jani, Hideaki Takahashi, Peter Horak, Deborah I. Ritter, Xin Zhou, Benjamin J. Ainscough, Sean Delong, Mario Lamping, Alex R. Marr, Brian V. Li, Wan-Hsin Lin, Panieh Terraf, Yasser Salama, Katie M. Campbell, Kirsten M. Farncombe, Jianling Ji, Xiaonan Zhao, Xinjie Xu, Rashmi Kanagal-Shamanna, Kelsy C. Cotto, Zachary L. Skidmore, Jason R. Walker, Jinghui Zhang, Aleksandar Milosavljevic, Ronak Y. Patel, Rachel H. Giles, Raymond H. Kim, Lynn M. Schriml, Elaine R. Mardis, Steven J. M. Jones, Gordana Raca, Shruti Rao, Subha Madhavan, Alex H. Wagner, Obi L. Griffith, Malachi Griffith
المصدر: Nat Cancer
مصطلحات موضوعية: Cancer Research, Oncology, Neoplasms, Genetic Variation, Humans, Article
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ed50e6a9356f3f2f4e3e63d326c2871Test
https://eprints.gla.ac.uk/279775/1/279775.pdfTest -
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المؤلفون: Jason Saliba, Gordana Raca, Angshumoy Roy, Ian King, Shamini Selvarajah, Xinjie Xu, Rashmi Kanagal-Shamanna, Laveniya Satgunaseelan, David Meredith, Charles Mullighan, Kilannin Krysiak, Mark G. Evans, Yassmine Akkari, Panieh Terraf, Alanna J. Church, Alexandra Kovach, Heather Williams, Wan-Hsin Lin, Chimene Kesserwan, Deborah I. Ritter, Arpad Danos, Shalini C. Reshmi, Marilyn M. Li, Dmitriy Sonkin, Jonathan S. Berg, Sharon E. Plon, Heidi L. Rehm, Alex H. Wagner, Shashikant Kulkarni, Ramaswamy Govindan, Obi L. Griffith, Malachi Griffith, null on behalf of the ClinGen Somatic Working Group
المصدر: Cancer Genetics. :8
مصطلحات موضوعية: Cancer Research, Genetics, Molecular Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c88e6d708fa9c21dbbd76b422c541ffcTest
https://doi.org/10.1016/j.cancergen.2022.10.025Test -
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المؤلفون: Peter Horak, Malachi Griffith, Arpad M. Danos, Beth A. Pitel, Subha Madhavan, Xuelu 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 Y. Tolstorukov, Paulo Vidal Campregher, Jeremy L. Warner, Shruti Rao, Maya Natesan, Haolin Shen, Jeffrey Venstrom, Somak Roy, Kayoko Tao, Rashmi Kanagal-Shamanna, Xinjie Xu, Deborah I. Ritter, Kym Pagel, Kilannin Krysiak, Adrian Dubuc, Yassmine M. 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
المصدر: Genet Med
مصطلحات موضوعية: Virulence, Genome, Human, Neoplasms, Genetic Variation, Humans, Genetic Testing, Genomics, Genetics (clinical), Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::149b200477e66e98e0ab2750c5171fa2Test
https://europepmc.org/articles/PMC9081216Test/ -
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المؤلفون: Christa Lese Martin, Juliann M. Savatt, Amy K. Johnson, Deborah I. Ritter, Erin Rooney Riggs, Julianne M. O’Daniel, Patti Krautscheid, Karen E. Wain, Jennifer L. Goldstein, Brianna Lepore, Danielle R. Azzariti
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
مصطلحات موضوعية: Counseling, medicine.medical_specialty, Scope of practice, scope of practice, Genetic counseling, Genetic Counseling, Clinical settings, Article, Patient care, Pregnancy, Surveys and Questionnaires, Humans, Medicine, clinical genetic counselors, Genetics (clinical), business.industry, variant interpretation, Interpretation (philosophy), Professional development, variant discrepancy, Clinical Practice, Counselors, Family medicine, Female, professional education, Personalized medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::567824276783984928fa8da124a40fbbTest
https://doi.org/10.1038/s41436-019-0705-9Test