Showing 1 - 11 results of 11 for search 'Stephen F Kingsmore', query time: 0.03s
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Genomic sequencing has a high diagnostic yield in children with congenital anomalies of the heart and urinary system by Erika T. Allred, Erika T. Allred, Elliot A. Perens, Nicole G. Coufal, Nicole G. Coufal, Erica Sanford Kobayashi, Erica Sanford Kobayashi, Stephen F. Kingsmore, David P. Dimmock
Published 2023-03-01
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Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning by Bennet Peterson, Edgar Javier Hernandez, Charlotte Hobbs, Sabrina Malone Jenkins, Barry Moore, Edwin Rosales, Samuel Zoucha, Erica Sanford, Matthew N. Bainbridge, Erwin Frise, Albert Oriol, Luca Brunelli, Stephen F. Kingsmore, Mark Yandell
Published 2023-03-01
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Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action by Vaidehi Jobanputra, Brock Schroeder, Heidi L. Rehm, Wei Shen, Elizabeth Spiteri, Ghunwa Nakouzi, Stacie Taylor, Christian R. Marshall, Linyan Meng, Stephen F. Kingsmore, Katarzyna Ellsworth, Euan Ashley, Ryan J. Taft, on behalf of the Medical Genome Initiative
Published 2024-03-01
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Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots by Yan Ding, Mallory Owen, Jennie Le, Sergey Batalov, Kevin Chau, Yong Hyun Kwon, Lucita Van Der Kraan, Zaira Bezares-Orin, Zhanyang Zhu, Narayanan Veeraraghavan, Shareef Nahas, Matthew Bainbridge, Joe Gleeson, Rebecca J. Baer, Gretchen Bandoli, Christina Chambers, Stephen F. Kingsmore
Published 2023-02-01
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Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting by Lauren Thompson, Austin Larson, Austin Larson, Lisa Salz, Regan Veith, John-Paul Tsai, Anuj Jayakar, Rachel Chapman, Rachel Chapman, Apeksha Gupta, Stephen F. Kingsmore, David Dimmock, Alan Bedrick, Alan Bedrick, Maureen Kelly Galindo, Kari Casas, Mohamed Mohamed, Lisa Straight, M. Akram Khan, Daria Salyakina
Published 2024-02-01
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Genome Sequencing and Mapping Reveal Loss of Heterozygosity as a Mechanism for Rapid Adaptation in the Vegetable Pathogen Phytophthora capsici by Kurt H. Lamour, Joann Mudge, Daniel Gobena, Oscar P. Hurtado-Gonzales, Jeremy Schmutz, Alan Kuo, Neil A. Miller, Brandon J. Rice, Sylvain Raffaele, Liliana M. Cano, Arvind K. Bharti, Ryan S. Donahoo, Sabra Finley, Edgar Huitema, Jon Hulvey, Darren Platt, Asaf Salamov, Alon Savidor, Rahul Sharma, Remco Stam, Dylan Storey, Marco Thines, Joe Win, Brian J. Haas, Darrell L. Dinwiddie, Jerry Jenkins, James R. Knight, Jason P. Affourtit, Cliff S. Han, Olga Chertkov, Erika A. Lindquist, Chris Detter, Igor V. Grigoriev, Sophien Kamoun, Stephen F. Kingsmore
Published 2012-10-01
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An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases by Mallory J. Owen, Sebastien Lefebvre, Christian Hansen, Chris M. Kunard, David P. Dimmock, Laurie D. Smith, Gunter Scharer, Rebecca Mardach, Mary J. Willis, Annette Feigenbaum, Anna-Kaisa Niemi, Yan Ding, Luca Van Der Kraan, Katarzyna Ellsworth, Lucia Guidugli, Bryan R. Lajoie, Timothy K. McPhail, Shyamal S. Mehtalia, Kevin K. Chau, Yong H. Kwon, Zhanyang Zhu, Sergey Batalov, Shimul Chowdhury, Seema Rego, James Perry, Mark Speziale, Mark Nespeca, Meredith S. Wright, Martin G. Reese, Francisco M. De La Vega, Joe Azure, Erwin Frise, Charlene Son Rigby, Sandy White, Charlotte A. Hobbs, Sheldon Gilmer, Gail Knight, Albert Oriol, Jerica Lenberg, Shareef A. Nahas, Kate Perofsky, Kyu Kim, Jeanne Carroll, Nicole G. Coufal, Erica Sanford, Kristen Wigby, Jacqueline Weir, Vicki S. Thomson, Louise Fraser, Seka S. Lazare, Yoon H. Shin, Haiying Grunenwald, Richard Lee, David Jones, Duke Tran, Andrew Gross, Patrick Daigle, Anne Case, Marisa Lue, James A. Richardson, John Reynders, Thomas Defay, Kevin P. Hall, Narayanan Veeraraghavan, Stephen F. Kingsmore
Published 2022-07-01
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