Christina Austin‐Tse

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 · 588 citations

Genetics, Genetic Epidemiology, Pathology +24

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 · 249 citations

Medicine, Pathology, Ciliary Dynein Arms +4

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 · 197 citations · Full text

Pathology, Degenerative Disease, Neurology +4

The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources

Marina T. DiStefano, Scott Goehringer, Lawrence Babb et al. · Genetics in Medicine · 2022 · 145 citations · Full text

Bioinformatics Database, Global Effort, Genetics +9

Genome Sequencing for Diagnosing Rare Diseases

Monica H. Wojcik, Gabrielle Lemire, Eva Berger et al. · New England Journal of Medicine · 2024 · 144 citations · Full text