Emma Burkitt‐Wright

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel et al. · Nature · 2020 · 674 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Magdalena Koczkowska, Yunjia Chen, Tom Callens et al. · The American Journal of Human Genetics · 2017 · 212 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

Elisabetta Flex, Mamta Jaiswal, Francesca Pantaleoni et al. · Human Molecular Genetics · 2014 · 142 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance

Jill Clayton‐Smith, Sarah Walters, Emma Hobson et al. · European Journal of Human Genetics · 2008 · 137 citations · Full text

Medicine, Pathology, Urology +13

Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only

D. Gareth Evans, Naomi L. Bowers, Emma Burkitt‐Wright et al. · EBioMedicine · 2016 · 92 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12