Author: "Amanda Thomas-Wilson" / Topic: qh426-470 - Searchworks@Jio Institute Digital Library Search Results

Author: Emily Groopman, Jenny Goldstein, Amanda Thomas-Wilson, Daniel Reich, Emily Kyle, Vimla Aggarwal, Christine Preston, Kim Hart, Nicole Si Yan Liang, Sarah Young, Simona Bianconi, Nicola Longo, Heidi Wallis, and Saadet Mercimek-Andrews
Subjects: Genetics, QH426-470, Medicine
Published: 2024
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Author: Kara Simpson, Nicholas Ah Mew, Ljubica Caldovic, Annette Feigenbaum, Raquel Fernandez, Emily Groopman, Andrea Gropman, Emily Kudalkar, Uta Lichter-Konecki, McKenna Kyriss, Elaine Spector, Meredith Weaver, Manya Warrier, Diane Zastrow, and Amanda Thomas-Wilson
Subjects: Genetics, QH426-470, Medicine
Published: 2024
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Author: Volkan Okur, Sowmya Thirumalai Srinivasa, Amanda Halstrom, John Falcone, Atteeq Rehman, Amanda Thomas-Wilson, Saurav Guha, Shruti Phadke, Avinash Abhyankar, Ashley Wilson, Caroline Nava, Shahid Khan, Maurice Hurd, Sarah Stewart, Katerine Claudio, Anne Jablonski, Jyothi Manohar, Sonal Kumar, Michele Yeung, Gregory Dakin, Omar Bellorin-Marin, Cheguevara Afaneh, Lisa Hudgins, Jessica Pena, Esther Wei, Laura Gingras, Alexandra King, Judy Tung, Shuibing Chen, Ryan Smith, Theresa MacDonald, Megan Ritter, Lauro Alonso, Olivier Elemento, Miriam Udler, Marcus Goncalves, and Vaidehi Jobanputra
Subjects: Genetics, QH426-470, Medicine
Published: 2024
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Author: Vaidehi Jobanputra, Jessica Giordano, Josie Pervola, Ashley Wilson, Saurav Guha, Amanda Thomas-Wilson, Atteeq Rehman, Volkan Okur, Ted Han, Cecilia Esteves, Alexandra Tinfow, Stephanie Galloway, Sowmya T. Srinivasa, Shahid Khan, Poppy Brace, Caroline Nava, Hannah Perrin, Bruce Elder, Endre Hegedus, Vanessa Felice, Shruti Phadke, Avinash Abhyankar, and Ronald Wapner
Subjects: Genetics, QH426-470, Medicine
Published: 2024
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Author: Atteeq Rehman, Amanda Thomas-Wilson, Frederic Tran Mau-Them, Leandra Tolusso, Avinash Abyankar, Saurav Guha, Volkan Okur, Vanessa Felice, Robert Hopkin, Ashley Wilson, Ted Han, Qiaoning Guan, Jessica Giordano, Anne-Claire Bréhin, Ronald Wapner, and Vaidehi Jobanputra
Subjects: Genetics, QH426-470, Medicine
Published: 2024
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Author: Amanda Thomas-Wilson, Nina Harkavy, Corbin Schwanke, Jonathan Schoof, Sowmya Thirumalai Srinivasa, Saurav Guha, Atteeq Rehman, Volkan Okur, Jessica Giordano, Abdallah Elias, Ronald Wapner, and Vaidehi Jobanputra
Subjects: Genetics, QH426-470, Medicine
Published: 2024
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Author: Jessica Giordano, Josie Pervola, Ashley Wilson, Atteeq Rehman, Amanda Thomas-Wilson, Saurav Guha, Volkan Okur, Alexandra Tinfow, Stephanie Galloway, Hannah Perrin, Cecilia Esteves, Poppy Brace, Caitlin Baptiste, Sowmya Thirumalai Srinivasa, Shahid Khan, Bruce Elder, Endre Hegedus, Vanessa Felice, Shruti Phadke, Avinash Abhyankar, Vaidehi Jobanputra, and Ronald Wapner
Subjects: Genetics, QH426-470, Medicine
Published: 2024
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Author: Christina A. Austin-Tse, Vaidehi Jobanputra, Denise L. Perry, David Bick, Ryan J. Taft, Eric Venner, Richard A. Gibbs, Ted Young, Sarah Barnett, John W. Belmont, Nicole Boczek, Shimul Chowdhury, Katarzyna A. Ellsworth, Saurav Guha, Shashikant Kulkarni, Cherisse Marcou, Linyan Meng, David R. Murdock, Atteeq U. Rehman, Elizabeth Spiteri, Amanda Thomas-Wilson, Hutton M. Kearney, Heidi L. Rehm, and Medical Genome Initiative
Subjects: Medicine, Genetics, QH426-470
Abstract: Abstract Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients with rare genetic disorders. However, standards addressing the definition and deployment practice of a best-in-class test are lacking. To address these gaps, the Medical Genome Initiative, a consortium of leading health care and research organizations in the US and Canada, was formed to expand access to high quality clinical WGS by convening experts and publishing best practices. Here, we present best practice recommendations for the interpretation and reporting of clinical diagnostic WGS, including discussion of challenges and emerging approaches that will be critical to harness the full potential of this comprehensive test.
Published: 2022
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Author: Emily Groopman, Amanda Thomas-Wilson, Shruthi Mohan, Jennifer Goldstein, Meredith Weaver, Raquel Fernandez, Heidi Wallis, Ljuba Caldovic, Nicholas Ah Mew, Irene De Biase, Ann Moser, Sharon Suchy, Tatiana Yuzyuk, Sarah Young, Saadet Mercimek-Andrews, Nancy Braverman, and Rong Mao
Subjects: Genetics, QH426-470, Medicine
Published: 2023
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