Hurst, Jane

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Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

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

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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

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Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification

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Prevalence and Complications of Single-Gene and Chromosomal Disorders in Craniosynostosis

Wilkie, A. O. M., Byren, J. C., Hurst, J. A., Jayamohan, J., Johnson, D., Knight, S. J. L., Lester, T., Richards, P. G., Twigg, S. R. F., & Wall, S. A. (2010) · Pediatrics

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

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De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Ito, Y., Carss, K. J., Duarte, S. T., Hartley, T., Keren, B., Kurian, M. A., Marey, I., Charles, P., Mendonça, C., Nava, C., et al. (2018) · The American Journal of Human Genetics

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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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Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure

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Further delineation of BCAP31‐linked intellectual disability: description of 17 new families with LoF and missense variants

Whalen, S., Shaw, M., Mignot, C., Héron, D., Bastaraud, S. C., Walti, C. C., Liebelt, J., Elmslie, F., Yap, P., Hurst, J., et al. (2021) · European Journal of Human Genetics

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