Результаты поиска - Samantha Baxter
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AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants по Jiale Xiang, Jiguang Peng, Samantha Baxter, Zhiyu Peng
Опубликовано 2020Artigo -
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Development and Validation of a Computational Method for Assessment of Missense Variants in Hypertrophic Cardiomyopathy по 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
Опубликовано 2011Artigo -
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The GeneInsight suite: a platform to support laboratory and provider use of DNA-based genetic testing по 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
Опубликовано 2011Artigo -
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The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing по 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
Опубликовано 2014Artigo -
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Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data по 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
Опубликовано 2023Artigo -
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Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach по 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
Опубликовано 2021Artigo -
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A novel custom resequencing array for dilated cardiomyopathy по 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
Опубликовано 2010Artigo -
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Genetic Testing for Dilated Cardiomyopathy in Clinical Practice по 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
Опубликовано 2012Artigo -
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Immune cell screening of a nanoparticle library improves atherosclerosis therapy по 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
Опубликовано 2016Artigo -
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RAF/MEK/extracellular signal–related kinase pathway suppresses dendritic cell migration and traps dendritic cells in Langerhans cell histiocytosis lesions по 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
Опубликовано 2017Artigo -
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<i>seqr</i> : A web‐based analysis and collaboration tool for rare disease genomics по 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
Опубликовано 2022Artigo -
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Inhibiting macrophage proliferation suppresses atherosclerotic plaque inflammation по 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
Опубликовано 2015Artigo -
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In Vivo PET Imaging of HDL in Multiple Atherosclerosis Models по 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
Опубликовано 2016Artigo -
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Nanobody-Facilitated Multiparametric PET/MRI Phenotyping of Atherosclerosis по 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
Опубликовано 2018Artigo -
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Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients по 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
Опубликовано 2022Revisão -
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Targeting CD40-Induced TRAF6 Signaling in Macrophages Reduces Atherosclerosis по 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
Опубликовано 2018Artigo -
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Insights into genetics, human biology and disease gleaned from family based genomic studies по 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
Опубликовано 2019Revisão -
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BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2 по 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
Опубликовано 2018Artigo -
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Inferring compound heterozygosity from large-scale exome sequencing data по 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
Опубликовано 2023Artigo
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Связанные темы
Biology
Genetics
Medicine
Gene
Computational biology
Bioinformatics
Phenotype
Genome
Pathology
Genetic testing
Internal medicine
Computer science
Exome
Exome sequencing
Mendelian inheritance
Biochemistry
Disease
Mutation
Alternative medicine
Data science
Data sharing
Environmental health
Genomics
Genotype
Immunology
Population
Copy-number variation
Dilated cardiomyopathy
Heart failure
Locus (genetics)