Nora Shannon
Nottingham University Hospitals NHS Trust(GB)Nottingham City Hospital(GB)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Prenatal Screening and Diagnostics, Aortic Disease and Treatment Approaches
Most-Cited Works
- → Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B(2004)606 cited
- → Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome(2012)243 cited
- → Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations(2012)214 cited
- → Mutations in CEP57 cause mosaic variegated aneuploidy syndrome(2011)168 cited
- → Mutation Analysis and Embryonic Expression of the HLXB9 Currarino Syndrome Gene(2000)137 cited
- → An epidemiological study of Wolf-Hirschhorn syndrome: life expectancy and cause of mortality(2001)89 cited
- → Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing(2017)77 cited