Richard Caswell
University of Exeter(GB)Royal Devon & Exeter NHS Foundation Trust(GB)
Publications by Year
Research Areas
Pancreatic function and diabetes, Genomics and Rare Diseases, Legal Cases and Commentary, Diverse Scientific and Economic Studies, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease(2014)490 cited
- → Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis(2013)315 cited
- → Improved genetic testing for monogenic diabetes using targeted next-generation sequencing(2013)311 cited
- → GATA6 haploinsufficiency causes pancreatic agenesis in humans(2011)303 cited
- → Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease(2011)285 cited
- → The human cytomegalovirus 80-kilodalton but not the 72-kilodalton immediate-early protein transactivates heterologous promoters in a TATA box-dependent mechanism and interacts directly with TFIID(1992)194 cited