Sampson, Julian

Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34

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Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts

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

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

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Extensive Telomere Erosion in the Initiation of Colorectal Adenomas and Its Association With Chromosomal Instability

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De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Klöckner, C., Sticht, H., Zacher, P., Popp, B., Babcock, H. E., Bakker, D. P., Barwick, K., Bonfert, M. V., Bönnemann, C. G., Brilstra, E. H., et al. (2021) · Genetics in Medicine

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Identification of a region required for TSC1 stability by functional analysis of TSC1missense mutations found in individuals with tuberous sclerosis complex

Mozaffari, M., Hoogeveen-Westerveld, M., Kwiatkowski, D., Sampson, J., Ekong, R., Povey, S., den Dunnen, J. T., van den Ouweland, A., Halley, D., & Nellist, M. (2009) · BMC Medical Genetics

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

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