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Health Sciences profile

Dr Karen Knapp

PositionResearch Fellow
DepartmentDepartment of Biochemistry
Research summaryGenetic disorders, cancer

Research

She completed her PhD in the research group of Professor Norbert Sträter at Leipzig University, Germany (2010), carrying out research involving the biochemical and structural characterization of a cancer drug target (CD73). She went on to carry out postdoctoral research within the Biochemistry Department, at the University of Otago (2010-2013), involving the structural characterisation of viral and host protein complexes, followed by further postdoctoral research at the North West Cancer Research Institute, Bangor University, UK (2013-2015), investigating DNA repair mechanisms and their role in cancer. In 2016 Karen joined the Bicknell Lab as a postdoctoral research fellow, and is carrying out research which focuses on identifying and characterising novel DNA replication components, in which mutations cause the rare Mendelian disorder Meier-Gorlin syndrome (MGS).

Publications

Tessadori, F., Duran, K., Knapp, K., Fellner, M., Deciphering Developmental Disorders Study, Smithson, S., … Robertson, S. P., … Mace, P. D., Bicknell, L. S., & van Haaften, G. (2022). Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome. American Journal of Human Genetics. Advance online publication. doi: 10.1016/j.ajhg.2022.02.003

Knapp, K. M., Jenkins, D. E., Sullivan, R., Harms, F. L., von Elsner, L., Ockeloen, C. W., … Bicknell, L. S. (2021). MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency. European Journal of Human Genetics, 29, 1110-1120. doi: 10.1038/s41431-021-00839-4

Knapp, K. M., Fellows, B., Aggarwal, S., Dalal, A., & Bicknell, L. S. (2021). A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis. European Journal of Medical Genetics, 64(4), 104182. doi: 10.1016/j.ejmg.2021.104182

Knapp, K. M., Murray, J., Temple, I. K., & Bicknell, L. S. (2021). Successful pregnancies in an adult with Meier-Gorlin syndrome harboring biallelic CDT1 variants. American Journal of Medical Genetics Part A, 185A, 871-876. doi: 10.1002/ajmg.a.62016

Blakes, A. J. M., Gaul, E., Lam, W., Shannon, N., Knapp, K. M., Bicknell, L. S., Jackson, M. R., Wade, E. M., Robertson, S., … Douglas, A. G. L. (2021). Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity. European Journal of Human Genetics, 29, 593-603. doi: 10.1038/s41431-020-00766-w

Tessadori, F., Duran, K., Knapp, K., Fellner, M., Deciphering Developmental Disorders Study, Smithson, S., … Robertson, S. P., … Mace, P. D., Bicknell, L. S., & van Haaften, G. (2022). Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome. American Journal of Human Genetics. Advance online publication. doi: 10.1016/j.ajhg.2022.02.003

Journal - Research Article

Blakes, A. J. M., Gaul, E., Lam, W., Shannon, N., Knapp, K. M., Bicknell, L. S., Jackson, M. R., Wade, E. M., Robertson, S., … Douglas, A. G. L. (2021). Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity. European Journal of Human Genetics, 29, 593-603. doi: 10.1038/s41431-020-00766-w

Journal - Research Article

Knapp, K. M., Fellows, B., Aggarwal, S., Dalal, A., & Bicknell, L. S. (2021). A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis. European Journal of Medical Genetics, 64(4), 104182. doi: 10.1016/j.ejmg.2021.104182

Journal - Research Article

Knapp, K. M., Jenkins, D. E., Sullivan, R., Harms, F. L., von Elsner, L., Ockeloen, C. W., … Bicknell, L. S. (2021). MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency. European Journal of Human Genetics, 29, 1110-1120. doi: 10.1038/s41431-021-00839-4

Journal - Research Article

Knapp, K. M., Luu, R., Baerenfaenger, M., Zijlstra, F., Wessels, H. J. C. T., Jenkins, D., … Bicknell, L. S. (2020). Biallelic variants in SLC35C1 as a cause of isolated short stature with intellectual disability. Journal of Human Genetics, 65, 743-750. doi: 10.1038/s10038-020-0764-4

Journal - Research Article

Knapp, K. M., Sullivan, R., Murray, J., Gimenez, G., Arn, P., D'Souza, P., … Bicknell, L. S. (2020). Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome. Journal of Medical Genetics, 57, 195-202. doi: 10.1136/jmedgenet-2019-106396

Journal - Research Article

Villahermosa, D., Christensen, O., Knapp, K., & Fleck, O. (2017). Schizosaccharomyces pombe MutSα and MutLα maintain stability of tetra-nucleotide repeats and Msh3 of hepta-nucleotide repeats. Genes Genomes Genetics, 7(5), 1463-1473. doi: 10.1534/g3.117.040816

Journal - Research Article

Villahermosa, D., Knapp, K., & Fleck, O. (2017). A mutated dph3 gene causes sensitivity of Schizosaccharomyces pombe cells to cytotoxic agents. Current Genetics, 63(6), 1081-1091. doi: 10.1007/s00294-017-0711-x

Journal - Research Article

Couñago, R. M., Knapp, K. M., Nakatani, Y., Fleming, S. B., Corbett, M., Wise, L. M., Mercer, A. A., & Krause, K. L. (2015). Structures of orf virus chemokine binding protein in complex with host chemokines reveal clues to broad binding specificity. Structure, 23(7), 1199-1213. doi: 10.1016/j.str.2015.04.023

Journal - Research Article

Knapp, K. M., Zebisch, M., & Sträter, N. (2012). Crystallization and preliminary X-ray analysis of the open form of human ecto-5′-nucleotidase (CD73). Acta Crystallographica Section F, 68(12), 1545-1549. doi: 10.1107/s1744309112045447

Journal - Research Article

Knapp, K., Zebisch, M., Pippel, J., El-Tayeb, A., Müller, C. E., & Sträter, N. (2012). Crystal structure of the human ecto-5′-nucleotidase (CD73): Insights into the regulation of purinergic signaling. Structure, 20(12), 2161-2173. doi: 10.1016/j.str.2012.10.001

Journal - Research Article

Knapp, K. M., Murray, J., Temple, I. K., & Bicknell, L. S. (2021). Successful pregnancies in an adult with Meier-Gorlin syndrome harboring biallelic CDT1 variants. American Journal of Medical Genetics Part A, 185A, 871-876. doi: 10.1002/ajmg.a.62016

Journal - Research Other

Knapp, K. M., Poke, G., Jenkins, D., Truter, W., & Bicknell, L. S. (2019). Expanding the phenotypic spectrum associated with DPF2: A new case report. American Journal of Medical Genetics Part A, 179A, 1637-1641. doi: 10.1002/ajmg.a.61262

Journal - Research Other

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