Sarah Bowdin
University of Cambridge(GB)Hospital for Sick Children(CA)Cambridge University Hospitals NHS Foundation Trust(GB)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Cancer Genomics and Diagnostics, Congenital heart defects research, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Loeys–Dietz syndrome: a primer for diagnosis and management(2014)564 cited
- → Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test(2017)558 cited
- → Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine(2016)375 cited
- → Reappraisal of Reported Genes for Sudden Arrhythmic Death(2018)363 cited
- → Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome(2005)303 cited
- → Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies(2008)274 cited