Patrick Short
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Cancer Genomics and Diagnostics, RNA Research and Splicing, RNA modifications and cancer
Most-Cited Works
- → Evidence for 28 genetic disorders discovered by combining healthcare and research data(2020)646 cited
- → De novo mutations in regulatory elements in neurodevelopmental disorders(2018)307 cited
- → Quantifying the contribution of recessive coding variation to developmental disorders(2018)219 cited
- → TNFα signals through specialized factories where responsive coding and miRNA genes are transcribed(2012)143 cited
- → The Probability Distribution of the Amplitude of a Constant Vector Plus a Rayleigh-Distributed Vector(1955)113 cited
- → Pathogenicity and selective constraint on variation near splice sites(2018)99 cited
- → Genetic and chemotherapeutic influences on germline hypermutation(2022)94 cited
- → Total quality management in hospitals(1995)81 cited
- → Contribution of retrotransposition to developmental disorders(2019)59 cited
- → Towards programming immune tolerance through geometric manipulation of phosphatidylserine(2015)55 cited