Charles Shaw‐Smith
Royal Devon & Exeter NHS Foundation Trust(GB)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Congenital heart defects research, Genomics and Rare Diseases, Congenital Diaphragmatic Hernia Studies
Most-Cited Works
- → Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene(1998)757 cited
- → Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations(2009)527 cited
- → Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability(2006)372 cited
- → Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology(2005)338 cited
- → Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis(2013)315 cited
- → GATA6 haploinsufficiency causes pancreatic agenesis in humans(2011)303 cited
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