Emma M.M. Burkitt Wright

Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance

Emma M.M. Burkitt Wright, Helen Spencer, Sarah B. Daly et al. · The American Journal of Human Genetics · 2011 · 136 citations · Full text

Life Sciences, Genetics, Molecular Biology +12

Contributions of intrinsic mutation rate and selfish selection to levels of de novo <i>HRAS</i> mutations in the paternal germline

Eleni Giannoulatou, Gil McVean, Indira B. Taylor et al. · Proceedings of the National Academy of Sciences · 2013 · 87 citations · Full text

Medicine, Genetics, Molecular Genetics +17

X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions

Emma M.M. Burkitt Wright, Rahat Perveen, Peter Clayton et al. · Clinical Dysmorphology · 2009 · 34 citations · Full text

Medicine, Endocrinology, Genetics +8

Pierpont syndrome: A collaborative study

Emma M.M. Burkitt Wright, Mohnish Suri, Susan M. White et al. · American Journal of Medical Genetics Part A · 2011 · 16 citations · Full text

Medicine, Pediatrics, Craniofacial Genetics +6

Clinical and neuroradiological characterisation of spinal lesions in adults with Neurofibromatosis type 1

Carlos Curtis-Lopez, Calvin Soh, John Ealing et al. · Journal of Clinical Neuroscience · 2020 · 16 citations

Medicine, Neurology, Radiology +16