Sökresultat - Marc S. Greenblatt

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  1. 1
    In silico analysis of missense substitutions using sequence-alignment based methods

    In silico analysis of missense substitutions using sequence-alignment based methods av Sean V. Tavtigian, Marc S. Greenblatt, Fabienne Lesueur, Graham Byrnes

    Publicerad 2008
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  2. 2
    Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group

    Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group av Sean V. Tavtigian, Marc S. Greenblatt, David E. Goldgar, Paolo Boffetta

    Publicerad 2008
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  3. 3
    Somatic point mutations in the p53 gene of human tumors and cell lines: updated compilation

    Somatic point mutations in the p53 gene of human tumors and cell lines: updated compilation av Monica Hollstein, Benny Shomer, Marc S. Greenblatt, Thierry Soussi, Eivind Hovig, Ruggero Montesano, Harris Cc

    Publicerad 1996
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  4. 4
    Genetic evidence and integration of various data sources for classifying uncertain variants into a single model

    Genetic evidence and integration of various data sources for classifying uncertain variants into a single model av David E. Goldgar, Douglas F. Easton, Graham Byrnes, Amanda B. Spurdle, Edwin S. Iversen, Marc S. Greenblatt

    Publicerad 2008
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  5. 5
    Database of p53 gene somatic mutations in human tumors and cell lines: updated compilation and future prospects

    Database of p53 gene somatic mutations in human tumors and cell lines: updated compilation and future prospects av Pierre Hainaut, Thierry Soussi, Benny Shomer, Monica Hollstein, Marc S. Greenblatt, Eivind Hovig, C C Harris, Ruggero Montesano

    Publicerad 1997
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  6. 6
    Assessment of functional effects of unclassified genetic variants

    Assessment of functional effects of unclassified genetic variants av Fergus J. Couch, Lene Juel Rasmussen, Robert M.W. Hofstra, Álvaro N.A. Monteiro, Marc S. Greenblatt, Niels de Wind

    Publicerad 2008
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  7. 7
    Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework

    Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework av Sean V. Tavtigian, Marc S. Greenblatt, Steven M. Harrison, Robert L. Nussbaum, Snehit Prabhu, Kenneth M. Boucher, Leslie G. Biesecker

    Publicerad 2018
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  8. 8
    Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

    Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results av Sharon E. Plon, Diana Eccles, Douglas F. Easton, William D. Foulkes, Maurizio Genuardi, Marc S. Greenblatt, Frans B.L. Hogervorst, Nicoline Hoogerbrugge, Amanda B. Spurdle, Sean V. Tavtigian

    Publicerad 2008
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  9. 9
    Functional Characterization of a Genetic Variant in the 5′ <scp>UTR</scp> of <scp><i>APC</i> 1B</scp> Promoter in a Familial Adenomatous Polyposis Family

    Functional Characterization of a Genetic Variant in the 5′ <scp>UTR</scp> of <scp><i>APC</i> 1B</scp> Promoter in a Familial Adenomatous Polyposis Family av Brendon Young, Deborah W. Neklason, Kathleen A. Clark, Bing Feng, Megan Keener, Thérèse M.F. Tuohy, Austin C. Wood, Wendy McKinnon, Marc S. Greenblatt, Sean V. Tavtigian

    Publicerad 2025
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  10. 10
    HGVS Recommendations for the Description of Sequence Variants: 2016 Update

    HGVS Recommendations for the Description of Sequence Variants: 2016 Update av Johan T. den Dunnen, Raymond Dalgleish, Donna Maglott, Reece K. Hart, Marc S. Greenblatt, Jean McGowan‐Jordan, Anne‐Françoise Roux, Tim D. Smith, Stylianos E. Antonarakis, Peter E.M. Taschner

    Publicerad 2016
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  11. 11
    Interpreting missense variants: comparing computational methods in human disease genes<i>CDKN2A</i>,<i>MLH1</i>,<i>MSH2</i>,<i>MECP2</i>, and tyrosinase (<i>TYR</i>)

    Interpreting missense variants: comparing computational methods in human disease genes<i>CDKN2A</i>,<i>MLH1</i>,<i>MSH2</i>,<i>MECP2</i>, and tyrosinase (<i>TYR</i>) av Philip A. Chan, Sekhar Duraisamy, Peter J. Miller, Joan A. Newell, Carole McBride, Jeffrey P. Bond, Tiina Raevaara, Saara Ollila, Minna Nyström, Andrew Grimm, John Christodoulou, William S. Oetting, Marc S. Greenblatt

    Publicerad 2007
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  12. 12
    Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations

    Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations av Sarah L. Stenton, Vikas Pejaver, Timothy Bergquist, Leslie G. Biesecker, Alicia B. Byrne, Emily A.W. Nadeau, Marc S. Greenblatt, Steven M. Harrison, Sean V. Tavtigian, Predrag Radivojac, Steven E. Brenner, Anne O’Donnell‐Luria

    Publicerad 2024
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  13. 13
    Evidence-based calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for clinical use of PP3/BP4 criteria

    Evidence-based calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for clinical use of PP3/BP4 criteria av Vikas Pejaver, Alicia B. Byrne, Bing Feng, Kymberleigh A. Pagel, Sean D. Mooney, Rachel Karchin, Anne O’Donnell‐Luria, Steven M. Harrison, Sean V. Tavtigian, Marc S. Greenblatt, Leslie G. Biesecker, Predrag Radivojac, Steven E. Brenner

    Publicerad 2022
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  14. 14
    Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

    Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria av Vikas Pejaver, Alicia B. Byrne, Bing Feng, Kymberleigh A. Pagel, Sean D. Mooney, Rachel Karchin, Anne O’Donnell‐Luria, Steven M. Harrison, Sean V. Tavtigian, Marc S. Greenblatt, Leslie G. Biesecker, Predrag Radivojac, Steven E. Brenner, 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

    Publicerad 2022
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  15. 15
    Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

    Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework av Sarah E. Brnich, Ahmad Abou Tayoun, Fergus J. Couch, Garry R. Cutting, Marc S. Greenblatt, Christopher D. Heinen, Dona Kanavy, Xi Luo, Shannon McNulty, Lea M. Starita, Sean V. Tavtigian, Matt W. Wright, Steven M. Harrison, Leslie G. Biesecker, Jonathan S. Berg

    Publicerad 2019
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  16. 16
    Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

    Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework av Sarah E. Brnich, Ahmad Abou Tayoun, Fergus J. Couch, Garry R. Cutting, Marc S. Greenblatt, Christopher D. Heinen, Dona Kanavy, Xi Luo, Shannon McNulty, Lea M. Starita, Sean V. Tavtigian, Matt W. Wright, Steven M. Harrison, Leslie G. Biesecker, Jonathan S. Berg

    Publicerad 2019
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  17. 17
    Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions

    Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions av Bryony A. Thompson, Marc S. Greenblatt, Maxime Vallée, Johanna C. Herkert, Chloé Tessereau, Erin L. Young, Ivan Adzhubey, Biao Li, Russell Bell, Bing Feng, Sean D. Mooney, Predrag Radivojac, Shamil Sunyaev, Thierry Frébourg, Robert M.W. Hofstra, Rolf H. Sijmons, Kenneth M. Boucher, Alun Thomas, David E. Goldgar, Amanda B. Spurdle, Sean V. Tavtigian

    Publicerad 2012
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  18. 18
    A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome

    A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome av Mark Drost, Yvonne Tiersma, Bryony A. Thompson, Jane Hübertz Frederiksen, Guido Keijzers, Dylan M. Glubb, Scott D. Kathe, Jan Osinga, Helga Westers, Lisa M. Pappas, Kenneth M. Boucher, Siska Molenkamp, José B.M. Zonneveld, Christi J. van Asperen, David E. Goldgar, Susan S. Wallace, Rolf H. Sijmons, Amanda B. Spurdle, Lene Juel Rasmussen, Marc S. Greenblatt, Niels de Wind, Sean V. Tavtigian

    Publicerad 2018
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  19. 19
    The Human Variome Project

    The Human Variome Project av Richard G.H. Cotton, Arleen D. Auerbach, Myles Axton, Carol Isaacson Barash, Samuel F. Berkovic, Anthony J. Brookes, John Burn, Garry R. Cutting, Johan T. den Dunnen, Paul Flicek, Nelson B. Freimer, Marc S. Greenblatt, Heather J. Howard, Michael Katz, Finlay Macrae, Donna Maglott, Gabriela Möslein, Sue Povey, Raj Ramesar, C. Sue Richards, Daniela Seminara, Tim D. Smith, María-Jesús Sobrido, Jan Helge Solbakk, Rudolph E. Tanzi, Sean V. Tavtigian, Graham R. Taylor, Joji Utsunomiya, Michael S. Watson

    Publicerad 2008
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  20. 20
    Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel

    Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Pa... av Isabel Spier, Xiaoyu Yin, Marcy E. Richardson, Marta Pineda, Andreas Laner, Deborah Ritter, Julie Boyle, Pilar Mur, Thomas van Overeem Hansen, Xuemei Shi, Khalid Mahmood, John‐Paul Plazzer, Elisabet Ognedal, Margareta Nordling, Susan M. Farrington, Gou Yamamoto, Stéphanie Baert‐Desurmont, Alexandra Martins, Ester Borràs, Carli M.J. Tops, Erica Webb, Victoria Beshay, Maurizio Genuardi, Tina Pesaran, Gabriel Capellà, Sean V. Tavtigian, Andrew Latchford, Ian M. Frayling, Sharon E. Plon, Marc S. Greenblatt, Finlay Macrae, Stefan Aretz

    Publicerad 2023
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