Showing 1 - 4 results of 4 for search 'Christina A. Austin-Tse', query time: 0.03s
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Protein‐extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation by Johanna Ranta‐aho, Kevin J. Felice, Per Harald Jonson, Jaakko Sarparanta, Cédric Yvorel, Ines Harzallah, Renaud Touraine, Lynn Pais, Christina A. Austin‐Tse, Vijay S. Ganesh, Melanie C. O'Leary, Heidi L. Rehm, Michael K. Hehir, Sub Subramony, Qian Wu, Bjarne Udd, Marco Savarese
Published 2024-09-01
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Best practices for the interpretation and reporting of clinical whole genome sequencing by 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, Medical Genome Initiative*
Published 2022-04-01
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Publisher Correction: Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes by Jennifer L. Halford, Valerie N. Morrill, Seung Hoan Choi, Sean J. Jurgens, Giorgio Melloni, Nicholas A. Marston, Lu-Chen Weng, Victor Nauffal, Amelia W. Hall, Sophia Gunn, Christina A. Austin-Tse, James P. Pirruccello, Shaan Khurshid, Heidi L. Rehm, Emelia J. Benjamin, Eric Boerwinkle, Jennifer A. Brody, Adolfo Correa, Brandon K. Fornwalt, Namrata Gupta, Christopher M. Haggerty, Stephanie Harris, Susan R. Heckbert, Charles C. Hong, Charles Kooperberg, Henry J. Lin, Ruth J. F. Loos, Braxton D. Mitchell, Alanna C. Morrison, Wendy Post, Bruce M. Psaty, Susan Redline, Kenneth M. Rice, Stephen S. Rich, Jerome I. Rotter, Peter F. Schnatz, Elsayed Z. Soliman, Nona Sotoodehnia, Eugene K. Wong, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Marc S. Sabatine, Christian T. Ruff, Kathryn L. Lunetta, Patrick T. Ellinor, Steven A. Lubitz
Published 2022-09-01
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Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes by Jennifer L. Halford, Valerie N. Morrill, Seung Hoan Choi, Sean J. Jurgens, Giorgio Melloni, Nicholas A. Marston, Lu-Chen Weng, Victor Nauffal, Amelia W. Hall, Sophia Gunn, Christina A. Austin-Tse, James P. Pirruccello, Shaan Khurshid, Heidi L. Rehm, Emelia J. Benjamin, Eric Boerwinkle, Jennifer A. Brody, Adolfo Correa, Brandon K. Fornwalt, Namrata Gupta, Christopher M. Haggerty, Stephanie Harris, Susan R. Heckbert, Charles C. Hong, Charles Kooperberg, Henry J. Lin, Ruth J. F. Loos, Braxton D. Mitchell, Alanna C. Morrison, Wendy Post, Bruce M. Psaty, Susan Redline, Kenneth M. Rice, Stephen S. Rich, Jerome I. Rotter, Peter F. Schnatz, Elsayed Z. Soliman, Nona Sotoodehnia, Eugene K. Wong, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Marc S. Sabatine, Christian T. Ruff, Kathryn L. Lunetta, Patrick T. Ellinor, Steven A. Lubitz
Published 2022-08-01
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