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2022, 'Comparison of actionable events detected in cancer genomes by whole-genome sequencing, in silico whole-exome and mutation panels', ESMO Open, 7, http://dx.doi.org/10.1016/j.esmoop.2022.100540
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2022, 'Early cost-utility analysis of genetically guided therapy for patients with drug-resistant epilepsy.', Epilepsia, 63, pp. 3111 - 3121, http://dx.doi.org/10.1111/epi.17408
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2021, 'Considerations for using population frequency data in germline variant interpretation: Cancer syndrome genes as a model', Human Mutation, 42, pp. 530 - 536, http://dx.doi.org/10.1002/humu.24183
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2021, 'Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing', European Journal of Human Genetics, 29, pp. 760 - 770, http://dx.doi.org/10.1038/s41431-020-00796-4
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2021, 'Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency', Journal of Clinical Immunology, 41, pp. 1915 - 1935, http://dx.doi.org/10.1007/s10875-021-01141-0
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