Dian Donnai
Manchester University NHS Foundation Trust(GB)St Mary's Hospital(GB)
Publications by Year
Research Areas
Genomics and Rare Diseases, Prenatal Screening and Diagnostics, Genomic variations and chromosomal abnormalities, BRCA gene mutations in cancer, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti(2000)736 cited
- → A Clinical Study of Type 2 Neurofibromatosis(1992)641 cited
- → BMPR2 Haploinsufficiency as the Inherited Molecular Mechanism for Primary Pulmonary Hypertension(2001)536 cited
- → A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity.(1992)466 cited
- → Williams syndrome: From genotype through to the cognitive phenotype(2000)321 cited
- → Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR(2004)321 cited