Christina Austin‐Tse
Broad Institute(US)Harvard University(US)Massachusetts General Hospital(US)Broad Center(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Cancer Genomics and Diagnostics, CRISPR and Genetic Engineering, Genetic and Kidney Cyst Diseases
Most-Cited Works
- → Genomic data in the All of Us Research Program(2024)647 cited
- → Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study(2016)593 cited
- → CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms(2012)249 cited
- → Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia(2013)200 cited
- → Genome Sequencing for Diagnosing Rare Diseases(2024)160 cited
- → The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources(2022)150 cited