検索結果 - Samantha Baxter

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  1. 1
    AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants

    AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants 著者: Jiale Xiang, Jiguang Peng, Samantha Baxter, Zhiyu Peng

    出版事項 2020
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    Artigo
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  2. 2
    Communicating new knowledge on previously reported genetic variants

    Communicating new knowledge on previously reported genetic variants 著者: Samuel Aronson, Eugene Clark, Matthew Varugheese, Samantha Baxter, Lawrence Babb, Heidi L. Rehm

    出版事項 2012
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    Artigo
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  3. 3
    Development and Validation of a Computational Method for Assessment of Missense Variants in Hypertrophic Cardiomyopathy

    Development and Validation of a Computational Method for Assessment of Missense Variants in Hypertrophic Cardiomyopathy 著者: Daniel M. Jordan, Adam Kieżun, Samantha Baxter, Vineeta Agarwala, Robert C. Green, Michael F. Murray, Trevor J. Pugh, Matthew S. Lebo, Heidi L. Rehm, Birgit Funke, Shamil Sunyaev

    出版事項 2011
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    Artigo
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  4. 4
    The GeneInsight suite: a platform to support laboratory and provider use of DNA-based genetic testing

    The GeneInsight suite: a platform to support laboratory and provider use of DNA-based genetic testing 著者: Samuel Aronson, Eugene Clark, Lawrence Babb, Samantha Baxter, Lisa Farwell, Birgit Funke, Amy Hernandez, Victoria A. Joshi, Elaine Lyon, Andrew R. Parthum, Franklin J. Russell, Matthew Varugheese, Thomas C. Venman, Heidi L. Rehm

    出版事項 2011
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    Artigo
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  5. 5
    The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing

    The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing 著者: Trevor J. Pugh, Melissa Kelly, Sivakumar Gowrisankar, Elizabeth Hynes, Michael A. Seidman, Samantha Baxter, Mark Bowser, Bryan D. Harrison, Daniel Aaron, Lisa Mahanta, Neal K. Lakdawala, Gregory McDermott, Emily White, Heidi L. Rehm, Matthew S. Lebo, Birgit Funke

    出版事項 2014
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    Artigo
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  6. 6
    Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data

    Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data 著者: Moriel Singer‐Berk, Sanna Gudmundsson, Samantha Baxter, Eleanor G. Seaby, Eleina England, Jordan C. Wood, Rachel G. Son, Nicholas A. Watts, Konrad J. Karczewski, Steven M. Harrison, Daniel G. MacArthur, Heidi L. Rehm, Anne O’Donnell‐Luria

    出版事項 2023
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    Artigo
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  7. 7
    Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach

    Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach 著者: Hyuk Jee, Zhengping Huang, Samantha Baxter, Yuelong Huang, Mária Lucía Taylor, Lauren A. Henderson, Sofia Rosenzweig, Aman Sharma, Eugene P. Chambers, Michael S. Hershfield, Qing Zhou, Fatma Dedeoğlu, Ivona Aksentijevich, Peter A. Nigrović, Anne O’Donnell‐Luria, Pui Y. Lee

    出版事項 2021
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    Artigo
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  8. 8
    A novel custom resequencing array for dilated cardiomyopathy

    A novel custom resequencing array for dilated cardiomyopathy 著者: Rebekah Zimmerman, Stephanie Cox, Neal K. Lakdawala, Allison L. Cirino, Debora Mancini‐DiNardo, Eugene Clark, Annette Leon, Elizabeth Hynes, Emily White, Samantha Baxter, Manal Alaamery, Lisa Farwell, Scott L. Weiss, Christine E. Seidman, Jonathan G. Seidman, Carolyn Y. Ho, Heidi L. Rehm, Birgit H. Funke

    出版事項 2010
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    Artigo
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  9. 9
    Genetic Testing for Dilated Cardiomyopathy in Clinical Practice

    Genetic Testing for Dilated Cardiomyopathy in Clinical Practice 著者: Neal K. Lakdawala, Birgit Funke, Samantha Baxter, Allison L. Cirino, Amy E. Roberts, Daniel P. Judge, Nicole Johnson, Nancy J. Mendelsohn, Chantal F. Morel, Melanie Care, Wendy K. Chung, Carolyn Jones, Apostolos Psychogios, Elizabeth Hynes, Heidi L. Rehm, Emily White, Jonathan G. Seidman, Christine E. Seidman, Carolyn Y. Ho

    出版事項 2012
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    Artigo
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  10. 10
    Immune cell screening of a nanoparticle library improves atherosclerosis therapy

    Immune cell screening of a nanoparticle library improves atherosclerosis therapy 著者: Jun Tang, Samantha Baxter, Arjun Menon, Amr Alaarg, Brenda L. Sánchez-Gaytán, François Fay, Yiming Zhao, Mireille Ouimet, Mounia S. Braza, Valerie A. Longo, Dalya Abdel-Atti, Raphaël Duivenvoorden, Claudia Calcagno, Gert Storm, Sotirios Tsimikas, Kathryn J. Moore, Filip K. Świrski, Matthias Nahrendorf, Edward A. Fisher, Carlos Pérez‐Medina, Zahi A. Fayad, Thomas Reiner, Willem J. M. Mulder

    出版事項 2016
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    Artigo
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  11. 11
    RAF/MEK/extracellular signal–related kinase pathway suppresses dendritic cell migration and traps dendritic cells in Langerhans cell histiocytosis lesions

    RAF/MEK/extracellular signal–related kinase pathway suppresses dendritic cell migration and traps dendritic cells in Langerhans cell histiocytosis lesions 著者: Brandon Hogstad, Marie‐Luise Berres, Rikhia Chakraborty, Jun Tang, Camille Bigenwald, Madhavika N. Serasinghe, Karen Phaik Har Lim, Howard Lin, Tsz‐Kwong Man, Romain Remark, Samantha Baxter, Veronika Kana, Stefan Jordan, Zoi Karoulia, Wing-Hong Kwan, Marylène Leboeuf, Elisa Brandt, Hélène Salmon, Kenneth L. McClain, Poulikos I. Poulikakos, Jerry E. Chipuk, Willem J. M. Mulder, Carl E. Allen, Miriam Mérad

    出版事項 2017
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    Artigo
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  12. 12
    <i>seqr</i> : A web‐based analysis and collaboration tool for rare disease genomics

    <i>seqr</i> : A web‐based analysis and collaboration tool for rare disease genomics 著者: Lynn Pais, Hana Snow, Ben Weisburd, Shifa Zhang, Samantha Baxter, Stephanie DiTroia, Emily O’Heir, Eleina England, Katherine R. Chao, Gabrielle Lemire, Ikeoluwa Osei‐Owusu, Grace E. VanNoy, Michael W. Wilson, Kevin Nguyen, Harindra Arachchi, William Phu, Matthew Solomonson, Stacy Mano, Melanie O’Leary, Alysia Kern Lovgren, Lawrence Babb, Christina Austin‐Tse, Heidi L. Rehm, Daniel G. MacArthur, Anne O’Donnell‐Luria

    出版事項 2022
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    Artigo
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  13. 13
    Inhibiting macrophage proliferation suppresses atherosclerotic plaque inflammation

    Inhibiting macrophage proliferation suppresses atherosclerotic plaque inflammation 著者: Jun Tang, Mark E. Lobatto, Laurien Hassing, Susanne van der Staay, Sarian M. van Rijs, Claudia Calcagno, Mounia S. Braza, Samantha Baxter, François Fay, Brenda L. Sánchez-Gaytán, Raphaël Duivenvoorden, Hendrik B. Sager, Yaritzy M. Astudillo, Wei Leong, Sarayu Ramachandran, Gert Storm, Carlos Pérez‐Medina, Thomas Reiner, David P. Cormode, Gustav J. Strijkers, Erik S.G. Stroes, Filip K. Świrski, Matthias Nahrendorf, Edward A. Fisher, Zahi A. Fayad, Willem J. M. Mulder

    出版事項 2015
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    Artigo
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  14. 14
    In Vivo PET Imaging of HDL in Multiple Atherosclerosis Models

    In Vivo PET Imaging of HDL in Multiple Atherosclerosis Models 著者: Carlos Pérez‐Medina, Tina Binderup, Mark E. Lobatto, Jun Tang, Claudia Calcagno, Luuk Giesen, Chang Ho Wessel, Julia J. Witjes, Seigo Ishino, Samantha Baxter, Yiming Zhao, Sarayu Ramachandran, Mootaz Eldib, Brenda L. Sánchez-Gaytán, Philip M. Robson, Jason Bini, Juan F. Granada, Kenneth Fish, Erik S.G. Stroes, Raphaël Duivenvoorden, Sotirios Tsimikas, Jason S. Lewis, Thomas Reiner, Valentı́n Fuster, Andreas Kjær, Edward A. Fisher, Zahi A. Fayad, Willem J. M. Mulder

    出版事項 2016
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    Artigo
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  15. 15
    Nanobody-Facilitated Multiparametric PET/MRI Phenotyping of Atherosclerosis

    Nanobody-Facilitated Multiparametric PET/MRI Phenotyping of Atherosclerosis 著者: Max L. Senders, Sophie Hernot, Giuseppe Carlucci, Jan C. van de Voort, François Fay, Claudia Calcagno, Jun Tang, Amr Alaarg, Yiming Zhao, Seigo Ishino, Anna Palmisano, Gilles Boeykens, Anu E. Meerwaldt, Brenda L. Sánchez-Gaytán, Samantha Baxter, Laura Zendman, Mark E. Lobatto, Nicolas A. Karakatsanis, Philip M. Robson, Alexis Broisat, Geert Raes, Jason S. Lewis, Sotirios Tsimikas, Thomas Reiner, Zahi A. Fayad, Nick Devoogdt, Willem J. M. Mulder, Carlos Pérez‐Medina

    出版事項 2018
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    Artigo
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  16. 16
    Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients

    Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients 著者: Christina Y. Miyake, Erica Julianne Lay, Claudia Soler‐Alfonso, Kevin E. Glinton, Kimberly Houck, Mustafa Tosur, Nancy E. Moran, Sara B. Stephens, Fernando Scaglia, Taylor S. Howard, Jeffrey Kim, Tam Dam Pham, Santiago O. Valdés, Na Li, Chaya N. Murali, Lilei Zhang, Maina Kava, Deane Yim, Cheyenne M. Beach, Gregory Webster, Leonardo Liberman, Christopher M. Janson, Prince J. Kannankeril, Samantha Baxter, Moriel Singer‐Berk, Jordan Daniel Wood, Samuel Mackenzie, Michael Sacher, Lina Ghaloul‐Gonzalez, Claudia Pedroza, Shaine A. Morris, Saad A. Ehsan, Mahshid S. Azamian, Seema R. Lalani

    出版事項 2022
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    Revisão
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  17. 17
    Targeting CD40-Induced TRAF6 Signaling in Macrophages Reduces Atherosclerosis

    Targeting CD40-Induced TRAF6 Signaling in Macrophages Reduces Atherosclerosis 著者: Tom Seijkens, Claudia M. van Tiel, Pascal Kusters, Dorothee Atzler, Oliver Soehnlein, Barbara Zarzycka, Suzanne A. B. M. Aarts, Marnix Lameijer, Marion J. Gijbels, Linda Beckers, Myrthe den Toom, Bram Slütter, Johan Kuiper, Johan Duchêne, Maria Aslani, Remco T. A. Megens, Cornelis van ’t Veer, Gijs Kooij, Roy Schrijver, Marten A. Hoeksema, Louis Boon, François Fay, Jun Tang, Samantha Baxter, Aldo Jongejan, Perry D. Moerland, Gert Vriend, Boris Bleijlevens, Edward A. Fisher, Raphaël Duivenvoorden, Norbert Gerdes, Menno P.J. de Winther, Gerry A. F. Nicolaes, Willem J. M. Mulder, Christian Weber, Esther Lutgens

    出版事項 2018
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    Artigo
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  18. 18
    Insights into genetics, human biology and disease gleaned from family based genomic studies

    Insights into genetics, human biology and disease gleaned from family based genomic studies 著者: Jennifer E. Posey, Anne O’Donnell‐Luria, Jessica X. Chong, Tamar Harel, Shalini N. Jhangiani, Zeynep H. Coban Akdemir, Steven Buyske, Davut Pehli̇van, Claudia M.B. Carvalho, Samantha Baxter, Nara Sobreira, Pengfei Liu, Nan Wu, Jill A. Rosenfeld, Sushant Kumar, Dimitri Avramopoulos, Janson J. White, Kimberly F. Doheny, P. Dane Witmer, Corinne D. Boehm, V. Reid Sutton, Donna M. Muzny, Eric Boerwinkle, Murat Günel, Deborah A. Nickerson, Shrikant Mane, Daniel G. MacArthur, Richard A. Gibbs, Ada Hamosh, Richard P. Lifton, Tara C. Matise, Heidi L. Rehm, Mark Gerstein, Michael J. Bamshad, David Valle, James R. Lupski

    出版事項 2019
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    Revisão
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  19. 19
    BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2

    BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2 著者: Melissa Cline, Rachel G. Liao, Michael T. Parsons, Benedict Paten, Faisal Alquaddoomi, Antonis C. Antoniou, Samantha Baxter, Larry Brody, Robert Cook‐Deegan, Amy Coffin, Fergus J. Couch, Brian Craft, Robert Currie, Chloe C. Dlott, Lena Dolman, Johan T. den Dunnen, Stephanie O. M. Dyke, Susan M. Domchek, Douglas F. Easton, Zachary Fischmann, William D. Foulkes, Judy E. Garber, David E. Goldgar, Mary J. Goldman, Peter Goodhand, Steven M. Harrison, David Haussler, Yoshihiro Kato, Bartha Maria Knoppers, Charles Markello, Robert L. Nussbaum, Kenneth Offit, Sharon E. Plon, Jem Rashbass, Heidi L. Rehm, Mark E. Robson, Wendy S. Rubinstein, Dominique Stoppa‐Lyonnet, Sean V. Tavtigian, Adrian Thorogood, Can Zhang, Marc Zimmermann, John Burn, Stephen J. Chanock, Gunnar Rätsch, Amanda B. Spurdle

    出版事項 2018
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    Artigo
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  20. 20
    Inferring compound heterozygosity from large-scale exome sequencing data

    Inferring compound heterozygosity from large-scale exome sequencing data 著者: Michael H. Guo, Laurent C. Francioli, Sarah L. Stenton, Julia K. Goodrich, Nicholas A. Watts, Moriel Singer‐Berk, Emily Groopman, Philip W. Darnowsky, Matthew Solomonson, Samantha Baxter, María T. Abreu, Carlos A. Aguilar‐Salinas, Tariq Ahmad, Christine M. Albert, Jessica Alföldi, Diego Ardissino, Irina M. Armean, Gil Atzmon, Eric Banks, John Barnard, Samantha Baxter, Laurent Beaugerie, Emelia J. Benjamin, David Benjamin, Louis Bergelson, Michael Boehnke, Lori L. Bonnycastle, Erwin P. Böttinger, Donald W. Bowden, Matthew J. Bown, Steven R. Brant, Sarah E. Calvo, Hannia Campos, John C. Chambers, Juliana C.N. Chan, Katherine R. Chao, Sinéad B. Chapman, Daniel I. Chasman, Siwei Chen, Rex L. Chisholm, Judy H. Cho, Rajiv Chowdhury, Mina K. Chung, Wendy K. Chung, Kristian Cibulskis, Bruce M. Cohen, Ryan L. Collins, Kristen M. Connolly, Adolfo Correa, Miguel Covarrubias, Beryl B. Cummings, Dana Dabelea, John Danesh, Dawood Darbar, Joshua C. Denny, Stacey Donnelly, Ravindranath Duggirala, Josée Dupuis, Patrick T. Ellinor, Roberto Elosúa, James Emery, Eleina England, Jeanette Erdmann, Tõnu Esko, Emily Evangelista, Yossi Farjoun, Diane Fatkin, Steven Ferriera, José C. Florez, André Franke, Martti Färkkilâ, Stacey Gabriel, Kiran Garimella, Laura D. Gauthier, Jeff Gentry, Gad Getz, David C. Glahn, Benjamin Gläser, Stephen J. Glatt, David B. Goldstein, Clicerio González, Leif Groop, Sanna Gudmundsson, Namrata Gupta, Andrea Haessly, Christopher A. Haiman, Ira M. Hall, Craig L. Hanis, Matthew Harms, Mikko Hiltunen, Matti Holi, Christina M. Hultman, Chaim Jalas, Thibault Jeandet, Mikko Kallela, Diane Kaplan, Jaakko Kaprio, Sekar Kathiresan, Eimear E. Kenny, Bong-Jo Kim

    出版事項 2023
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    Artigo
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