Christina Austin‐Tse

Genomic data in the All of Us Research Program

Alexander G. Bick, Ginger Metcalf, Kelsey Mayo et al. · Nature · 2024 · 753 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

Frederick E. Dewey, Michael F. Murray, John D. Overton et al. · Science · 2016 · 602 citations

Medicine, Genetics, Molecular Genetics +17

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

Jennifer R. Panizzi, Anita Becker-Heck, Victoria Castleman et al. · Nature Genetics · 2012 · 250 citations

Medicine, Molecular Genetics, Neuroscience +12

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia

Christina Austin‐Tse, Jan Halbritter, Maimoona A. Zariwala et al. · The American Journal of Human Genetics · 2013 · 201 citations · Full text

Life Sciences, Molecular Genetics, Neuroscience +6

Genome Sequencing for Diagnosing Rare Diseases

Monica H. Wojcik, Gabrielle Lemire, Eva Berger et al. · New England Journal of Medicine · 2024 · 184 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17