Hasil Pencarian - Tina Pesaran

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  1. 1
    P712: A novel framework for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification

    P712: A novel framework for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification oleh Leslie Biesecker, Alicia Byrne, Steven Harrison, Tina Pesaran, Alejandro Schäffer, Brian Shirts, Sean Tavtigian, Heidi Rehm

    Diterbitkan 2024-01-01
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  2. 2
    Assigning credit where it is due: an information content score to capture the clinical value of multiplexed assays of variant effect

    Assigning credit where it is due: an information content score to capture the clinical value of multiplexed assays of variant effect oleh John Michael O. Ranola, Carolyn Horton, Tina Pesaran, Shawn Fayer, Lea M. Starita, Brian H. Shirts

    Diterbitkan 2024-09-01
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  3. 3
    Curated multiple sequence alignment for the Adenomatous Polyposis Coli (APC) gene and accuracy of in silico pathogenicity predictions.

    Curated multiple sequence alignment for the Adenomatous Polyposis Coli (APC) gene and accuracy of in silico pathogenicity predictions. oleh Alexander D Karabachev, Dylan J Martini, David J Hermel, Dana Solcz, Marcy E Richardson, Tina Pesaran, Indra Neil Sarkar, Marc S Greenblatt

    Diterbitkan 2020-01-01
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  4. 4
    A Bayesian framework for efficient and accurate variant prediction.

    A Bayesian framework for efficient and accurate variant prediction. oleh Dajun Qian, Shuwei Li, Yuan Tian, Jacob W Clifford, Brice A J Sarver, Tina Pesaran, Chia-Ling Gau, Aaron M Elliott, Hsiao-Mei Lu, Mary Helen Black

    Diterbitkan 2018-01-01
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  5. 5
    Two Missense Variants Detected in Breast Cancer Probands Preventing BRCA2-PALB2 Protein Interaction

    Two Missense Variants Detected in Breast Cancer Probands Preventing BRCA2-PALB2 Protein Interaction oleh Laura Caleca, Irene Catucci, Gisella Figlioli, Loris De Cecco, Tina Pesaran, Maggie Ward, Sara Volorio, Sara Volorio, Anna Falanga, Marina Marchetti, Maria Iascone, Carlo Tondini, Alberto Zambelli, Jacopo Azzollini, Siranoush Manoukian, Paolo Radice, Paolo Peterlongo

    Diterbitkan 2018-10-01
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  6. 6
    An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance

    An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance oleh Edwin S. Iversen, Gary Lipton, Steven N. Hart, Kun Y. Lee, Chunling Hu, Eric C. Polley, Tina Pesaran, Amal Yussuf, Holly LaDuca, Elizabeth Chao, Rachid Karam, David E. Goldgar, Fergus J. Couch, Alvaro N. A. Monteiro

    Diterbitkan 2022-06-01
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  7. 7
    P061: ATM and PALB2 variant curation guidelines progress update: ClinGen Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel

    P061: ATM and PALB2 variant curation guidelines progress update: ClinGen Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel oleh Megan Holdren, Marcy Richardson, Deborah Ritter, Colin Young, Terra Brannan, Tina Pesaran, Lauren Zec, Susan Hiraki, Michael Anderson, Melissa Southey, Clare Turnbull, Marc Tischkowitz, Huma Rana, Shannon McNulty Gray, Sean Tavtigian, Logan Walker, William Foulkes, Alvaro Monteiro, Sarah Brnich, Melissa Cline, Amanda Spurdle, Miguel de la Hoya, Fergus Couch

    Diterbitkan 2023-01-01
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  8. 8
    P103: Operationalizing structured curated scientific literature (CIViC and Hypothesis) in developing gene-specific recommendations of the ClinGen VHL Variant Curation Expert Panel

    P103: Operationalizing structured curated scientific literature (CIViC and Hypothesis) in developing gene-specific recommendations of the ClinGen VHL Variant Curation Expert Panel oleh Deborah Ritter, Chansonette Badduke, Michael Anderson, Arpad Danos, Kurston Doonanco, Kirsten Farncombe, Bailey Gallinger, Rachel Giles, Malachi Griffith, Obi Griffith, Carolyn Horton, Kathleen Hruska, Hio Chung Kang, Kilannin Krysiak, Minjie Luo, Jerry Machado, Eamonn Maher, Kelly McGoldrick, Tina Pesaran, Neta Pipko, Sarah Ridd, Jason Saliba, Clare Sheen, Raymond Kim

    Diterbitkan 2024-01-01
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  9. 9
    P076: The ClinGen ENIGMA BRCA1/2 expert panel: A dynamic framework for evidence-based recommendations to improve classification criteria for variants in BRCA1/2*

    P076: The ClinGen ENIGMA BRCA1/2 expert panel: A dynamic framework for evidence-based recommendations to improve classification criteria for variants in BRCA1/2* oleh Michael Parsons, Michael Anderson, Windy Berkofsky-Fessler, Sandrine Caputo, Raymond Chan, Melissa Cline, Fergus Couch, Miguel de la Hoya, Bing-Jian Feng, David Goldgar, Encarna Gomez-Garcia, Susan Hiraki, Megan Holdren, Claude Houdayer, Paul James, Rachid Karam, Huei San Leong, Alexandra Martins, Arjen Mensenkamp, Alvaro Monteiro, Vaishnavi Nathan, Robert O'Connor, Tina Pesaran, Paolo Radice, Marcy Richardson, Gunnar Schmidt, Inge Sokilde Pedersen, Melissa Southey, Sean Tavtigian, Bryony Thompson, Amanda Toland, Emma Tudini, Clare Turnbull, Maaike Vreeswijk, Logan Walker, Lauren Zec, Amanda Spurdle

    Diterbitkan 2023-01-01
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  10. 10
    Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes

    Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes oleh Tyler Landrith, Bing Li, Ashley A. Cass, Blair R. Conner, Holly LaDuca, Danielle B. McKenna, Kara N. Maxwell, Susan Domchek, Nichole A. Morman, Christopher Heinlen, Deborah Wham, Cathryn Koptiuch, Jennie Vagher, Ragene Rivera, Ann Bunnell, Gayle Patel, Jennifer L. Geurts, Morgan M. Depas, Shraddha Gaonkar, Sara Pirzadeh-Miller, Rebekah Krukenberg, Meredith Seidel, Robert Pilarski, Meagan Farmer, Khateriaa Pyrtel, Kara Milliron, John Lee, Elizabeth Hoodfar, Deepika Nathan, Amanda C. Ganzak, Sitao Wu, Huy Vuong, Dong Xu, Aarani Arulmoli, Melissa Parra, Lily Hoang, Bhuvan Molparia, Michele Fennessy, Susanne Fox, Sinead Charpentier, Julia Burdette, Tina Pesaran, Jessica Profato, Brandon Smith, Ginger Haynes, Emily Dalton, Joy Rae-Radecki Crandall, Ruth Baxter, Hsiao-Mei Lu, Brigette Tippin-Davis, Aaron Elliott, Elizabeth Chao, Rachid Karam

    Diterbitkan 2020-02-01
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