Resultados de procura - Tina Pesaran

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  1. 1
    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 por Tina Pesaran, Rachid Karam, Robert Huether, S. Li, Suzette Farber-Katz, Adam Chamberlin, Hansook Kim Chong, Holly LaDuca, Aaron Elliott

    Publicado 2016
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  2. 2
    Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

    Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion por Ahmad Abou Tayoun, Tina Pesaran, Marina T. DiStefano, Andrea M. Oza, Heidi L. Rehm, Leslie G. Biesecker, Steven M. Harrison

    Publicado 2018
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  3. 3
    ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification

    ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification por Leslie G. Biesecker, Alicia B. Byrne, Steven M Harrison, Tina Pesaran, Alejandro A. Schäffer, Brian H. Shirts, Sean V Tavtigian, Heidi L Rehm

    Publicado 2023
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  4. 4
    REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification

    REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification por Yuan Tian, Tina Pesaran, Adam Chamberlin, R. Bryn Fenwick, Shuwei Li, Chia‐Ling Gau, Elizabeth Chao, Hsiao‐Mei Lu, Mary Helen Black, Dajun Qian

    Publicado 2019
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  5. 5
    Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar

    Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar por Steven M. Harrison, Jill S. Dolinsky, Amy E. Knight Johnson, Tina Pesaran, Danielle R. Azzariti, Sherri J. Bale, Elizabeth Chao, Soma Das, Lisa M. Vincent, Heidi L. Rehm

    Publicado 2017
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  6. 6
    Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients

    Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients por Holly LaDuca, Aaron J. Stuenkel, Jill S. Dolinsky, Steven Keiles, Stephany Tandy, Tina Pesaran, Elaine Chen, Chia‐Ling Gau, Erika Palmaer, Kamelia Shoaepour, Divya Shah, Virginia Speare, Stephanie Gandomi, Elizabeth Chao

    Publicado 2014
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  7. 7
    The Contribution of Germline Predisposition Gene Mutations to Clinical Subtypes of Invasive Breast Cancer From a Clinical Genetic Testing Cohort

    The Contribution of Germline Predisposition Gene Mutations to Clinical Subtypes of Invasive Breast Cancer From a Clinical Genetic Testing Cohort por Chunling Hu, Eric C. Polley, Siddhartha Yadav, Jenna Lilyquist, Hermela Shimelis, Jie Na, Steven N. Hart, David E. Goldgar, Swati Shah, Tina Pesaran, Jill S. Dolinsky, Holly LaDuca, Fergus J. Couch

    Publicado 2020
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  8. 8
    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 por 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

    Publicado 2021
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  9. 9
    Multigene Hereditary Cancer Panels Reveal High-Risk Pancreatic Cancer Susceptibility Genes

    Multigene Hereditary Cancer Panels Reveal High-Risk Pancreatic Cancer Susceptibility Genes por Chunling Hu, Holly LaDuca, Hermela Shimelis, Eric C. Polley, Jenna Lilyquist, Steven N. Hart, Jie Na, Abigail Thomas, Kun Y. Lee, Brigette Tippin Davis, Mary Helen Black, Tina Pesaran, David E. Goldgar, Jill S. Dolinsky, Fergus J. Couch

    Publicado 2018
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  10. 10
    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 por 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

    Publicado 2018
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  11. 11
    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 por 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

    Publicado 2021
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  12. 12
    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 por 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

    Publicado 2023
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  13. 13
    Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer

    Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer por Fergus J. Couch, Hermela Shimelis, Chunling Hu, Steven N. Hart, Eric C. Polley, Jie Na, Emily Hallberg, Raymond M. Moore, Abigail Thomas, Jenna Lilyquist, Bing Feng, Rachel McFarland, Tina Pesaran, Robert Huether, Holly LaDuca, Elizabeth Chao, David E. Goldgar, Jill S. Dolinsky

    Publicado 2017
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  14. 14
    Somatic TP53 variants frequently confound germ-line testing results

    Somatic TP53 variants frequently confound germ-line testing results por Jeffrey N. Weitzel, Elizabeth Chao, Bita Nehoray, Lily R. Van Tongeren, Holly LaDuca, Kathleen R. Blazer, Thomas P. Slavin, Tina Pesaran, Christina Rybak, Ilana Solomon, Mariana Niell‐Swiller, Jill S. Dolinsky, Danielle Castillo, Aaron Elliott, Chia‐Ling Gau, Virginia Speare, Kory Jasperson

    Publicado 2017
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  15. 15
    A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients

    A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk pa... por Holly LaDuca, Eric C. Polley, Amal Yussuf, Lily Hoang, Stephanie Gutierrez, Steven N. Hart, Siddhartha Yadav, Chunling Hu, Jie Na, David E. Goldgar, Kelly Fulk, Laura P. Smith, Carolyn Horton, Jessica Profato, Tina Pesaran, Chia-Ling Gau, Melissa Pronold, Brigette Tippin Davis, Elizabeth Chao, Fergus J. Couch, Jill S. Dolinsky

    Publicado 2019
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  16. 16
    Suggested application of HER2+ breast tumor phenotype for germline <i>TP53</i> variant classification within ACMG/AMP guidelines

    Suggested application of HER2+ breast tumor phenotype for germline <i>TP53</i> variant classification within ACMG/AMP guidelines por Cristina Fortuño, Jessica L. Mester, Tina Pesaran, Jeffrey N. Weitzel, Jill S. Dolinsky, Amal Yussuf, Kelly McGoldrick, Judy E. Garber, Sharon A. Savage, Payal P. Khincha, D. Gareth Evans, Maria Isabel Achatz, Kim E. Nichols, Kara N. Maxwell, Joshua D. Schiffman, Renata Lazari Sandoval, Paul A. James, Amanda B. Spurdle

    Publicado 2020
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  17. 17
    Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer

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

    Publicado 2019
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  18. 18
    Specifications of the ACMG/AMP variant interpretation guidelines for germline <i>TP53</i> variants

    Specifications of the ACMG/AMP variant interpretation guidelines for germline <i>TP53</i> variants por Cristina Fortuño, Kristy Lee, Magali Olivier, Tina Pesaran, L. Phuong, Kelvin C. de Andrade, Laura D. Attardi, Stephanie B. Crowley, D. Gareth Evans, Bing Feng, Ann Katherine M. Foreman, Megan N. Frone, Robert Huether, Paul A. James, Kelly McGoldrick, Jessica L. Mester, Bryce A. Seifert, Thomas P. Slavin, Leora Witkowski, Liying Zhang, Sharon E. Plon, Amanda B. Spurdle, Sharon A. Savage

    Publicado 2020
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  19. 19
    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 por 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

    Publicado 2018
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  20. 20
    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 por 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

    Publicado 2024
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