Barnicoat, Angela

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

Kaplanis, J., Samocha, K. E., Wiel, L., Zhang, Z., Arvai, K. J., Eberhardt, R. Y., Gallone, G., Lelieveld, S. H., Martin, H. C., McRae, J. F., et al. (2020) · Nature

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

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Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Jenkinson, E. M., Rodero, M. P., Kasher, P. R., Uggenti, C., Oojageer, A., Goosey, L. C., Rose, Y., Kershaw, C. J., Urquhart, J. E., Williams, S. G., et al. (2016) · Nature Genetics

Cerebrovascular and genetic disordersGenomics and Rare Diseases

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Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype

Sadleir, L. G., Mountier, E. I., Gill, D., Davis, S., Joshi, C., DeVile, C., Kurian, M. A., Study, F. T. D., Mandelstam, S., Wirrell, E., et al. (2017) · Neurology

Epilepsy research and treatmentIon channel regulation and function

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Holistic management of DSD

Brain, C. E., Creighton, S. M., Mushtaq, I., Carmichael, P. A., Barnicoat, A., Honour, J. W., Larcher, V., & Achermann, J. C. (2010) · Best Practice & Research Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

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Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

Sousa, S. B., Jenkins, D., Chanudet, E., Tasseva, G., Ishida, M., Anderson, G., Docker, J., Ryten, M., Sa, J., Saraiva, J. M., et al. (2014) · Nature Genetics

Dermatological and Skeletal DisordersGenomics and Rare Diseases

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Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

McRae, J. F., Clayton, S., Fitzgerald, T. W., Kaplanis, J., Prigmore, E., Rajan, D., Sifrim, A., Aitken, S., Akawi, N., Alvi, M., et al. (2016) · bioRxiv (Cold Spring Harbor Laboratory)

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

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