Caswell, Richard C.

Top Publications

Top Publications Authored or Co-Authored by "Caswell, Richard C."

• Dominant ER stress-inducing WFS1 mutations underlie a genetic syndrome of neonatal/infancy-onset diabetes, congenital sensorineural deafness, and congenital cataracts

  Diabetes, Volume 66, No. 7, Year 2017, Citations 72
• Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria

  Human Molecular Genetics, Volume 32, No. 4, Year 2023, Citations 38
• Isolated pancreatic aplasia due to a hypomorphic PTF1A mutation

  Diabetes, Volume 65, No. 9, Year 2016, Citations 19
• Primate-specific ZNF808 is essential for pancreatic development in humans

  Nature Genetics, Volume 55, No. 12, Year 2023, Citations 10