Zachary Zappala
Vertex Pharmaceuticals (United States)(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetic Associations and Epidemiology, RNA and protein synthesis mechanisms, RNA Research and Splicing, CRISPR and Genetic Engineering
Most-Cited Works
- → The mutational constraint spectrum quantified from variation in 141,456 humans(2020)9,854 cited
- → Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts(2019)342 cited
- → The impact of rare variation on gene expression across tissues(2017)289 cited
- → Long-read genome sequencing identifies causal structural variation in a Mendelian disease(2017)272 cited
- → Impact of the X Chromosome and sex on regulatory variation(2016)113 cited
- → Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder(2018)106 cited
- → Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes(2021)105 cited
- → Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans(2021)97 cited
- → Local genetic effects on gene expression across 44 human tissues(2016)63 cited