Lachlan, Katherine

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

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Update on Kleefstra syndrome

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

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Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis

Guerrini, R., Mei, D., Kerti-Szigeti, K., Pepe, S., Koenig, M. K., Von Allmen, G., Cho, M. T., McDonald, K., Baker, J., Bhambhani, V., et al. (2022) · Brain

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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)

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