Harrison, Rachel

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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Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

Krone, N., Reisch, N., Idkowiak, J., Dhir, V., Ivison, H. E., Hughes, B. A., Rose, I. T., O'Neil, D. M., Vijzelaar, R., Smith, M. J., et al. (2012) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

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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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Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency

Reisch, N., Idkowiak, J., Hughes, B. A., Ivison, H. E., Abdul-Rahman, O. A., Hendon, L. G., Olney, A. H., Nielsen, S., Harrison, R., Blair, E. M., et al. (2013) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

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PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Ebstein, F., Küry, S., Most, V., Rosenfelt, C., Scott-Boyer, M.-P., van Woerden, G. M., Besnard, T., Papendorf, J. J., Studencka-Turski, M., Wang, T., et al. (2023) · Science Translational Medicine

Genetics and Neurodevelopmental DisordersUbiquitin and proteasome pathways

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