Rezultati - Lisa M. Vincent

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  1. 1
    Coagulation factor VA2440G causes east Texas bleeding disorder via TFPIα

    Coagulation factor VA2440G causes east Texas bleeding disorder via TFPIα od Lisa M. Vincent, Sinh Tran, Ruzica Livaja, Tracy A Bensend, Dianna M. Milewicz, Björn Dahlbäck

    Izdano 2013
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  2. 2
    Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine

    Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine od Kathryn B. Garber, Lisa M. Vincent, John Alexander, Lora Jh Bean, Sherri J. Bale, Madhuri Hegde

    Izdano 2016
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  3. 3
    Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

    Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACM... od Catherine Rehder, Lora Jh Bean, David Bick, Elizabeth Chao, Wendy K. Chung, Soma Das, Julianne O’Daniel, Heidi L. Rehm, Vandana Shashi, Lisa M. Vincent

    Izdano 2021
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  4. 4
    Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar

    Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar od 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

    Izdano 2017
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  5. 5
    ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation

    ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation od Bruce D. Gelb, Hélène Cavé, Mitchell W. Dillon, Karen W. Gripp, Jennifer A. Lee, Heather Mason‐Suares, Katherine A. Rauen, Bradley A. Williams, Martin Zenker, Lisa M. Vincent

    Izdano 2018
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  6. 6
    Assessing the gene–disease association of 19 genes with the RASopathies using the ClinGen gene curation framework

    Assessing the gene–disease association of 19 genes with the RASopathies using the ClinGen gene curation framework od Andrew R. Grant, Brandon J. Cushman, Hélène Cavé, Mitchell W. Dillon, Bruce D. Gelb, Karen W. Gripp, Jennifer A. Lee, Heather Mason‐Suares, Katherine A. Rauen, Marco Tartaglia, Lisa M. Vincent, Martin Zenker

    Izdano 2018
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  7. 7
    Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants

    Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants od Tracy Brandt, Laura M. Sack, Dolores Arjona, Duanjun Tan, Hui Mei, Hong Cui, Hua Gao, Lora Jh Bean, Arunkanth Ankala, Daniela del Gaudio, Amy Knight Johnson, Lisa M. Vincent, Caitlin Reavey, Amy Lai, Gabriele Richard, Jeanne Meck

    Izdano 2019
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  8. 8
    ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation

    ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation... od Edgar A. Rivera‐Muñoz, Laura V. Milko, Steven M. Harrison, Danielle R. Azzariti, C. Lisa Kurtz, Kristy Lee, Jessica L. Mester, Meredith Weaver, Erin Currey, William Craigen, Charis Eng, Birgit Funke, Madhuri Hegde, Ray E. Hershberger, Rong Mao, Robert D. Steiner, Lisa M. Vincent, Christa Lese Martin, Sharon E. Plon, Erin M. Ramos, Heidi L. Rehm, Michael S. Watson, Jonathan S. Berg

    Izdano 2018
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  9. 9
    Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach

    Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach od Steven M. Harrison, Jill Dolinksy, Wenjie Chen, Christin Collins, Soma Das, Joshua L. Deignan, Kathryn B. Garber, John Garcia, Olga Jarinova, Amy E. Knight Johnson, Juha Koskenvuo, Hane Lee, Rong Mao, Rebecca Mar‐Heyming, Andrew McFaddin, Krista Moyer, Narasimhan Nagan, Stefan Rentas, Avni Santani, Eija H. Seppälä, Brian H. Shirts, Timothy Tidwell, Scott Topper, Lisa M. Vincent, Kathy M. B. Vinette, Heidi L. Rehm

    Izdano 2018
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  10. 10
    Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

    Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Exp... od Melissa Kelly, Colleen Caleshu, Ana Morales, Jillian G. Buchan, Zena Wolf, Steven M. Harrison, Stuart A. Cook, Mitchell W. Dillon, John Garcia, Eden Haverfield, Jan D.H. Jongbloed, Daniela Macaya, Arjun K. Manrai, Kate M. Orland, Gabriele Richard, Katherine G. Spoonamore, Matthew Thomas, Kate Thomson, Lisa M. Vincent, Roddy Walsh, Hugh Watkins, Nicola Whiffin, Jodie Ingles, J. Peter van Tintelen, Christopher Semsarian, James S. Ware, Ray E. Hershberger, Birgit Funke

    Izdano 2018
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  11. 11
    Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

    Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome od Yline Capri, Elisabetta Flex, Oliver H.F. Krumbach, Giovanna Carpentieri, Serena Cecchetti, Christina Lißewski, Soheila Rezaei Adariani, Denny Schanze, Julia Brinkmann, Juliette Piard, Francesca Pantaleoni, Francesca Romana Lepri, Elaine Goh, Karen Chong, Elliot Stieglitz, Julia Meyer, Alma Kuechler, Nuria C. Bramswig, Stephanie Sacharow, Marion Strullu, Yoann Vial, Cédric Vignal, George Kensah, Goran Čuturilo, Neda S. Kazemein Jasemi, Radovan Dvorský, Kristin G. Monaghan, Lisa M. Vincent, Hélène Cavé, Alain Verloès, Mohammad Reza Ahmadian, Marco Tartaglia, Martin Zenker

    Izdano 2019
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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 od 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

    Izdano 2023
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  13. 13
    Noonan syndrome in diverse populations

    Noonan syndrome in diverse populations od Paul Kruszka, Antonio R. Porras, Yonit A. Addissie, Angélica Moresco, S. Arvizu Medrano, Gary Mok, Gordon K. C. Leung, Cedrik Tekendo‐Ngongang, Annette Uwineza, Meow‐Keong Thong, Premala Muthukumarasamy, Engela Honey, Ekanem N. Ekure, Ogochukwu Sokunbi, Nnenna Kalu, Kelly L. Jones, Julie Kaplan, Omar Abdul‐Rahman, Lisa M. Vincent, Amber Love, Khadija Belhassan, Karim Ouldim, Ihssane El Bouchikhi, Anju Shukla, Katta M. Girisha, Siddaramappa J. Patil, Nirmala D. Sirisena, Vajira H. W. Dissanayake, C. S. Paththinige, Rupesh Mishra, Eva Klein‐Zighelboim, Bertha Elena Gallardo Jugo, Miguel Chávez Pastor, Hugo Hernán Abarca-Barriga, Steven A. Skinner, Eloise J. Prijoles, Ëben Badoe, Ashleigh D. Gill, Vorasuk Shotelersuk, Patroula Smpokou, Monisha S. Kisling, Carlos R. Ferreira, Léon Mutesa, André Mégarbané, Antonie D. Kline, Amy Kimball, Emmy Okello, Peter Lwabi, Twalib Aliku, Emmanuel Tenywa, Nonglak Boonchooduang, Pranoot Tanpaiboon, Antônio Richieri‐Costa, Ambroise Wonkam, Brian Hon‐Yin Chung, Roger E. Stevenson, Marshall Summar, Kausik Mandal, Shubha R. Phadke, María Gabriela Obregón, Marius George Linguraru, Maximilian Muenke

    Izdano 2017
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