Richard Caswell

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease

Sarah E. Flanagan, Emma Haapaniemi, Mark A. Russell et al. · Nature Genetics · 2014 · 484 citations · Full text

Immunogenetics, Autoimmune Disease, Autoantibody Production +11

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis

Michael N. Weedon, Inês Cebola, Ann‐Marie Patch et al. · Nature Genetics · 2013 · 313 citations

Developmental Biology, Pancreatic Cancer, Genetics +5

Improved genetic testing for monogenic diabetes using targeted next-generation sequencing

Sian Ellard, Hana Lango Allen, Elisa De Franco et al. · Diabetologia · 2013 · 307 citations · Full text

GATA6 haploinsufficiency causes pancreatic agenesis in humans

Hana Lango Allen, Sarah E. Flanagan, Charles Shaw‐Smith et al. · Nature Genetics · 2011 · 301 citations

Developmental Biology, Aging, Pancreatic Cancer +3

Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease

Michael N. Weedon, Robert Hastings, Richard Caswell et al. · The American Journal of Human Genetics · 2011 · 285 citations · Full text

Mendelian Disorder, Genetic Disorder, Exome Sequencing +10