Suchergebnisse - Jennifer N. Dines

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  1. 1
    Systematic misclassification of missense variants in BRCA1 and BRCA2 “coldspots”

    Systematic misclassification of missense variants in BRCA1 and BRCA2 “coldspots” von Jennifer N. Dines, Brian H. Shirts, Thomas P. Slavin, Tom Walsh, Mary‐Claire King, Douglas M. Fowler, Colin C. Pritchard

    Veröffentlicht 2020
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  2. 2
    Expanding clinical phenotype in <i>CACNA1C</i> related disorders: From neonatal onset severe epileptic encephalopathy to late‐onset epilepsy

    Expanding clinical phenotype in <i>CACNA1C</i> related disorders: From neonatal onset severe epileptic encephalopathy to late‐onset epilepsy von Xiuhua Bozarth, Jennifer N. Dines, Qian Cong, Ghayda Mirzaa, Kimberly Foss, J. Lawrence Merritt, Jenny Thies, Heather C. Mefford, Edward J. Novotny

    Veröffentlicht 2018
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  3. 3
    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 von 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

    Veröffentlicht 2021
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  4. 4
    Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation

    Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation von Hannah Gelman, Jennifer N. Dines, Jonathan S. Berg, Alice H. Berger, Sarah E. Brnich, Fuki M. Hisama, Richard G. James, Alan F. Rubin, Jay Shendure, Brian H. Shirts, Douglas M. Fowler, Lea M. Starita

    Veröffentlicht 2019
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  5. 5
    Multiplex assessment of protein variant abundance by massively parallel sequencing

    Multiplex assessment of protein variant abundance by massively parallel sequencing von Kenneth A. Matreyek, Lea M. Starita, Jason J. Stephany, Beth Martin, Melissa A. Chiasson, Vanessa E. Gray, Martin Kircher, Arineh Khechaduri, Jennifer N. Dines, Ronald J. Hause, Smita Bhatia, William E. Evans, Mary V. Relling, Wenjian Yang, Jay Shendure, Douglas M. Fowler

    Veröffentlicht 2018
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  6. 6
    The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children

    The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children von Amanda S. Freed, Sarah V. Clowes Candadai, Megan Sikes, Jenny Thies, Heather M. Byers, Jennifer N. Dines, Mesaki Kenneth Ndugga-Kabuye, Mallory B. Smith, Katie Fogus, Heather C. Mefford, Christina Lam, Margaret P Adam, Angela Sun, John K. McGuire, Robert DiGeronimo, Katrina M. Dipple, Gail Deutsch, Zeenia Billimoria, James T. Bennett

    Veröffentlicht 2020
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  7. 7
    Clinical Validation of a Novel T-Cell Receptor Sequencing Assay for Identification of Recent or Prior Severe Acute Respiratory Syndrome Coronavirus 2 Infection

    Clinical Validation of a Novel T-Cell Receptor Sequencing Assay for Identification of Recent or Prior Severe Acute Respiratory Syndrome Coronavirus 2 Infection von Sudeb C. Dalai, Jennifer N. Dines, Thomas M. Snyder, Rachel Gittelman, Tera Eerkes, Pashmi Vaney, Sally Howard, Kipp Akers, Lynell R. Skewis, Anthony Monteforte, Pamela R Witte, Cristina Wolf, Hans P. Nesse, Megan Herndon, Jia Qadeer, Sarah Q. Duffy, Emily Svejnoha, Caroline Taromino, Ian M. Kaplan, John P. Alsobrook, Thomas Manley, Lance Baldo

    Veröffentlicht 2022
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  8. 8
    Antigen-driven expansion of public clonal T cell populations in inflammatory bowel diseases

    Antigen-driven expansion of public clonal T cell populations in inflammatory bowel diseases von Mitchell W. Pesesky, Ramit Bharanikumar, Lionel Le Bourhis, Hesham ElAbd, Elisa Rosati, Cara L. Carty, Namita Singh, Bernd Bokemeyer, Stefan Schreiber, Siegfried Görg, Marco Garcia Noceda, Paidamoyo Chapfuwa, Rachel M. Gittelman, Damon May, Jennifer N. Dines, Wenyu Zhou, Ian M. Kaplan, Thomas M. Snyder, H. Jabran Zahid, Julia Greissl, Haiyin Chen‐Harris, Bryan Howie, Andre Franke, Harlan Robins, Matthieu Allez

    Veröffentlicht 2025
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  9. 9
    A large-scale database of T-cell receptor beta (TCRβ) sequences and binding associations from natural and synthetic exposure to SARS-CoV-2.

    A large-scale database of T-cell receptor beta (TCRβ) sequences and binding associations from natural and synthetic exposure to SARS-CoV-2. von Sean Nolan, Marissa Vignali, Mark Klinger, Jennifer N. Dines, Ian M. Kaplan, Emily Svejnoha, Tracy Craft, Katie Boland, Mitch Pesesky, Rachel Gittelman, Thomas M. Snyder, Christopher J. Gooley, Simona Semprini, Claudio Cerchione, Massimiliano Mazza, Ottavia M. Delmonte, Kerry Dobbs, Gonzalo Carreño‐Tarragona, Santiago Barrio, Vittorio Sambri, Giovanni Martinelli, Jason D. Goldman, James R. Heath, Luigi D. Notarangelo, Jonathan M. Carlson, Joaquín Martínez‐López, Harlan Robins

    Veröffentlicht 2020
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  10. 10
    A large-scale database of T-cell receptor beta sequences and binding associations from natural and synthetic exposure to SARS-CoV-2

    A large-scale database of T-cell receptor beta sequences and binding associations from natural and synthetic exposure to SARS-CoV-2 von Sean Nolan, Marissa Vignali, Mark Klinger, Jennifer N. Dines, Ian M. Kaplan, Emily Svejnoha, Tracy Craft, Katie Boland, Mitchell W. Pesesky, Rachel M. Gittelman, Thomas M. Snyder, Christopher J. Gooley, Simona Semprini, Claudio Cerchione, Fabio Nicolini, Massimiliano Mazza, Ottavia M. Delmonte, Kerry Dobbs, Gonzalo Carreño‐Tarragona, Santiago Barrio, Vittorio Sambri, Giovanni Martinelli, Jason D. Goldman, James R. Heath, Luigi D. Notarangelo, Joaquín Martínez‐López, Bryan Howie, Jonathan M. Carlson, Harlan Robins

    Veröffentlicht 2025
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  11. 11
    TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

    TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants von Jennifer N. Dines, Katie Golden‐Grant, Amy Lacroix, Alison M. Muir, Dianne Laboy Cintrón, Kirsty McWalter, Megan T. Cho, Angela Sun, J. Lawrence Merritt, Jenny Thies, Dmitriy Niyazov, Barbara K. Burton, Katherine Kim, Leah R. Fleming, Rachel Westman, Peter Karachunski, Joline Dalton, Alice Basinger, Can Fıçıcıoğlu, Ingo Helbig, Manuela Pendziwiat, Hiltrud Muhle, Katherine L. Helbig, Almuth Caliebe, René Santer, Kolja Becker, Sharon F. Suchy, Ganka Douglas, Francisca Millan, Amber Begtrup, Kristin G. Monaghan, Heather C. Mefford

    Veröffentlicht 2018
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  12. 12
    Magnitude and Dynamics of the T-Cell Response to SARS-CoV-2 Infection at Both Individual and Population Levels

    Magnitude and Dynamics of the T-Cell Response to SARS-CoV-2 Infection at Both Individual and Population Levels von Thomas M. Snyder, Rachel M. Gittelman, Mark Klinger, Damon May, Edward J. Osborne, Ruth Taniguchi, H. Jabran Zahid, Ian M. Kaplan, Jennifer N. Dines, Matthew T. Noakes, Ravi Pandya, Xiaoyu Chen, Summer Elasady, Emily Svejnoha, Peter Ebert, Mitchell W. Pesesky, Patrícia de Almeida, Hope O’Donnell, Quinn DeGottardi, Gladys J. Keitany, Jennifer Lu, Allen M. Vong, Rebecca Elyanow, Paul Fields, Julia Greissl, Lance Baldo, Simona Semprini, Claudio Cerchione, Fabio Nicolini, Massimiliano Mazza, Ottavia M. Delmonte, Kerry Dobbs, Rocío Laguna‐Goya, Gonzalo Carreño‐Tarragona, Santiago Barrio, Luisa Imberti, Alessandra Sottini, Eugenia Quirós-Roldán, Camillo Rossi, Andrea Biondi, Laura Rachele Bettini, Mariella D’Angiò, Paolo Bonfanti, Miranda F. Tompkins, Camille Alba, Clifton L. Dalgard, Vittorio Sambri, Giovanni Martinelli, Jason D. Goldman, James R. Heath, Helen C. Su, Luigi D. Notarangelo, Estela Paz‐Artal, Joaquín Martínez‐López, Jonathan M. Carlson, Harlan Robins

    Veröffentlicht 2020
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  13. 13
    Magnitude and dynamics of the T-cell response to SARS-CoV-2 infection at both individual and population levels

    Magnitude and dynamics of the T-cell response to SARS-CoV-2 infection at both individual and population levels von Thomas M. Snyder, Rachel M. Gittelman, Mark R. Klinger, Damon May, Edward J. Osborne, Ruth Taniguchi, H. Jabran Zahid, Ian M. Kaplan, Jennifer N. Dines, Matthew T. Noakes, Ravi Pandya, Xiaoyu Chen, Summer Elasady, Emily Svejnoha, Peter Ebert, Mitchell W. Pesesky, Patrícia de Almeida, Hope O’Donnell, Quinn DeGottardi, Gladys J. Keitany, Jennifer Lu, Allen M. Vong, Rebecca Elyanow, Paul Fields, Hussein Al-Asadi, Julia Greissl, Lance Baldo, Simona Semprini, Claudio Cerchione, Fabio Nicolini, Massimiliano Mazza, Ottavia M. Delmonte, Kerry Dobbs, Rocío Laguna‐Goya, Gonzalo Carreño‐Tarragona, Santiago Barrio, Luisa Imberti, Alessandra Sottini, Eugenia Quirós-Roldán, Camillo Rossi, Andrea Biondi, Laura Rachele Bettini, Mariella D’Angiò, Paolo Bonfanti, Miranda F. Tompkins, Camille Alba, Clifton L. Dalgard, Vittorio Sambri, Giovanni Martinelli, Jason D. Goldman, James R. Heath, Helen C. Su, Luigi D. Notarangelo, Estela Paz‐Artal, Joaquín Martínez‐López, Bryan Howie, Jonathan M. Carlson, Harlan Robins

    Veröffentlicht 2025
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  14. 14
    Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

    Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway von Justyna A. Karolak, Marie Vincent, Gail Deutsch, Tomasz Gambin, Benjamin Cogné, Olivier Pichon, Francesco Vetrini, Heather C. Mefford, Jennifer N. Dines, Katie Golden‐Grant, Katrina M. Dipple, Amanda S. Freed, Kathleen A. Leppig, Megan K. Dishop, David Mowat, Bruce Bennetts, Andrew J. Gifford, Martin Weber, Anna F. Lee, Cornelius F. Boerkoel, Tina M. Bartell, Catherine Ward‐Melver, Thomas Besnard, Florence Petit, Iben Bache, Zeynep Tümer, Marie Denis-Musquer, Madeleine Joubert, Jéléna Martinovic, Claire Bénéteau, Arnaud Molin, Dominique Carles, Gwenaëlle André, Éric Bieth, Nicolas Chassaing, Louise Devisme, Lara Chalabreysse, Laurent Pasquier, Véronique Secq, Massimiliano Don, Maria ­Orsaria, Chantal Missirian, Jérémie Mortreux, Damien Sanlaville, Linda Pons, Sébastien Küry, Stéphane Bézieau, Jean-Michel Liet, Nicolas Joram, Tiphaine Bihouée, Daryl A. Scott, Chester Brown, Fernando Scaglia, Anne Chun-Hui Tsai, Dorothy K. Grange, John A. Phillips, Jean P. Pfotenhauer, Shalini N. Jhangiani, Claudia Gonzaga‐Jauregui, Wendy K. Chung, Galen M. Schauer, Mark Lipson, Catherine L. Mercer, Arie van Haeringen, Qian Liu, Edwina J. Popek, Zeynep H. Coban Akdemir, James R. Lupski, Przemysław Szafrański, Bertrand Isidor, Cédric Le Caignec, Paweł Stankiewicz

    Veröffentlicht 2019
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