Christina A Austin-Tse (Christina Austin-Tse)

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 5

Top Topics

Gene Expression

Health Insurance

Clinical Practice

Top Venues

medRxiv : the preprint server for health sciences

NPJ genomic medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Shloka Negi, Sarah L Stenton, Seth I Berger, Brandy McNulty, Ivo Violich, Joshua Gardner, Todd Hillaker, Sara M O'Rourke, Melanie C O'Leary, Elizabeth Carbonell, Christina A Austin-Tse, Gabrielle T Lemire, Jillian Serrano, Brian Mangilog, Grace E VanNoy, Mikhail Kolmogorov, Eric Vilain, Anne H O'Donnell-Luria, Emmanuèle C Délot, Karen H Miga, Jean Monlong, Benedict Paten
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection. medRxiv : the preprint server for health sciences (2024)
Marina Villamor-Payà, María Sanchiz-Calvo, Jordann Smak, Lynn S Pais, Malika Sud, Uma T Shankavaram, Alysia Kern Lovgren, Christina A Austin-Tse, Vijay S Ganesh, Marina Gay, Marta Vilaseca, Gianluca Arauz-Garofalo, Lluís Palenzuela, Grace E VanNoy, Anne H O'Donnell-Luria, Travis H Stracker
Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency. medRxiv : the preprint server for health sciences (2023)
Victor Nauffal, Valerie N Morrill, Sean Joseph Jurgens, Seung Hoan Choi, Amelia W Hall, Lu-Chen Weng, Jennifer L Halford, Christina A Austin-Tse, Christopher M Haggerty, Stephanie L Harris, Eugene K Wong, Alvaro Alonso, Dan E Arking, Emelia J Benjamin, Eric Boerwinkle, Yuan-I Min, Adolfo Correa, Brandon K Fornwalt, Susan R Heckbert, null null, Charles Kooperberg, Henry J Lin, Ruth J F Loos, Kenneth M Rice, Namrata Gupta, Thomas W Blackwell, Braxton D Mitchell, Alanna C Morrison, Bruce M Psaty, Wendy S Post, Susan Redline, Michael J Bamshad, Stephen S Rich, Jerome I Rotter, Elsayed Z Soliman, Nona Sotoodehnia, Kathryn L Lunetta, Patrick T Ellinor, Steven A Lubitz, null null
Monogenic and Polygenic Contributions to QTc Prolongation in the Population. Circulation 145 (20) (2022)
Christina A Austin-Tse, Vaidehi Jobanputra, Denise L Perry, David Bick, Ryan J Taft, Eric Venner, Richard A Gibbs, Edwin J 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, null null
Best practices for the interpretation and reporting of clinical whole genome sequencing. NPJ genomic medicine 7 (1) (2022)
Steven M Harrison, Christina A Austin-Tse, Serra Kim, Matthew Lebo, Annette Leon, David Murdock, Aparna Radhakrishnan, Brian H Shirts, Marcie Steeves, Eric Venner, Richard A Gibbs, Gail P Jarvik, Michael J Bamshad
Harmonizing variant classification for return of results in the All of Us Research Program. Human mutation 43 (8) (2021)