Zobrazeno 1 - 10
of 75
pro vyhledávání: '"Deborah I, Ritter"'
Autor:
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)
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-12 (2022)
Abstract Background Identification of clinically significant genetic alterations involved in human disease has been dramatically accelerated by developments in next-generation sequencing technologies. However, the infrastructure and accessible compre
Externí odkaz:
https://doaj.org/article/c5ae77d69fae41bca5be493d02302150
Autor:
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
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-12 (2019)
Abstract Manually curated variant knowledgebases and their associated knowledge models are serving an increasingly important role in distributing and interpreting variants in cancer. These knowledgebases vary in their level of public accessibility, a
Externí odkaz:
https://doaj.org/article/39ec4aa7be3443f3b794858501c8d184
Autor:
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
Publikováno v:
Nucleic Acids Research. 51:D1230-D1241
CIViC (Clinical Interpretation of Variants in Cancer; civicdb.org) is a crowd-sourced, public domain knowledgebase composed of literature-derived evidence characterizing the clinical utility of cancer variants. As clinical sequencing becomes more pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8da3f7e2345c9e1528df39d430b1e5ce
https://doi.org/10.1093/nar/gkac979
https://doi.org/10.1093/nar/gkac979
Autor:
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
Publikováno v:
Genome Medicine, Vol 8, Iss 1, Pp 1-9 (2016)
Abstract Background To truly achieve personalized medicine in oncology, it is critical to catalog and curate cancer sequence variants for their clinical relevance. The Somatic Working Group (WG) of the Clinical Genome Resource (ClinGen), in cooperati
Externí odkaz:
https://doaj.org/article/6ef4b9fea20b4dbbbfc2a9f4940e7437
Autor:
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
Publikováno v:
Database. 2023
Von Hippel–Lindau (VHL) disease is a rare, autosomal dominant disorder that predisposes individuals to developing tumors in many organs. There is significant phenotypic variability and genetic variants encountered within this syndrome, posing a con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c42295a163888ca0bc347dc406b5ebc5
https://doi.org/10.1093/database/baac109
https://doi.org/10.1093/database/baac109
Autor:
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
Publikováno v:
Cancer Genet
Gene fusions involving the neurotrophic receptor tyrosine kinase genes NTRK1, NTRK2, and NTRK3, are well established oncogenic drivers in a broad range of pediatric and adult tumors. These fusions are also important actionable markers, predicting oft
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::394282add06e047fa1d25041606db4be
https://escholarship.org/uc/item/5jv62951
https://escholarship.org/uc/item/5jv62951
Autor:
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
Publikováno v:
Nat Cancer
As guidelines, therapies, and literature on cancer variants expand, the lack of consensus variant interpretations impedes clinical applications. CIViC is a public domain, crowd-sourced, and adaptable knowledgebase of evidence for the Clinical Interpr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ed50e6a9356f3f2f4e3e63d326c2871
https://eprints.gla.ac.uk/279775/1/279775.pdf
https://eprints.gla.ac.uk/279775/1/279775.pdf
Autor:
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
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose: Genomic testing is routinely utilized across clinical settings and can have significant variant interpretation challenges. The extent of genetic counselor (GC) engagement in variant interpretation in clinical practice is unknown. This study
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::567824276783984928fa8da124a40fbb
https://doi.org/10.1038/s41436-019-0705-9
https://doi.org/10.1038/s41436-019-0705-9
Autor:
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
Publikováno v:
Genet Med
PURPOSE: Several professional societies have published guidelines for the clinical interpretation of somatic variants, which specifically address diagnostic, prognostic, and therapeutic implications. While these guidelines for the clinical interpreta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::149b200477e66e98e0ab2750c5171fa2
https://europepmc.org/articles/PMC9081216/
https://europepmc.org/articles/PMC9081216/
Autor:
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
Publikováno v:
Cancer Genetics. :8
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c88e6d708fa9c21dbbd76b422c541ffc
https://doi.org/10.1016/j.cancergen.2022.10.025
https://doi.org/10.1016/j.cancergen.2022.10.025