Dr Louise Bicknell completed her PhD with Professor Stephen Robertson, University of Otago in 2007, before moving to Edinburgh to undertake post-doctoral studies with Professor Andrew Jackson, Institute of Genetics and Molecular Medicine, University of Edinburgh.
Her post-doctoral studies focused on genetic disorders of growth; delineating the genetic causes and unravelling the biology that controls human growth. In the latter stages of her post-doctoral studies she was supported by a Medical Research Scotland fellowship and a Newlife Foundation for Disabled Children grant.
In September 2015 she returned to the University of Otago to commence her Rutherford Discovery Fellowship. Her research focuses on understanding how genetic variation present in our genomes can cause or influence genetic conditions.
Her lab is supported by the Marsden Fund, the Neurological Foundation of New Zealand, the HRC, and University of Otago.
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
Mulligan, M. R., Jenkins, D. E., Damsteegt, E., Beck, C., & Bicknell, L. S. (2021). The developmental effects of disrupting DONSON: A gene involved in genetic microcephaly. New Zealand Medical Journal, 134(1537), (pp. 115). Retrieved from https://www.nzma.org.nz/journal
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. Advance online publication. 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
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. Advance online publication. 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
Tarnauskaitė, Ž., Bicknell, L. S., Marsh, J. A., Murray, J. E., Parry, D. A., Logan, C. V., … Reijns, M. A. M. (2019). Biallelic variants in DNA2 cause microcephalic primordial dwarfism. Human Mutation, 40, 1063-1070. doi: 10.1002/humu.23776
Journal - Research Article
Reynolds, J. J., Bicknell, L. S., Carroll, P., Higgs, M. R., Shaheen, R., Murray, J. E., … Stuart, G. S. (2017). Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. Nature Genetics, 49(4), 537-549. doi: 10.1038/ng.3790
Journal - Research Article
Fenwick, A. L., Kliszczak, M., Cooper, F., Murray, J., Sanchez-Pulido, L., Twigg, S. R. F., … Bicknell, L. S. (2016). Mutations in CDC45, encoding an essential component of the pre-initiation complex, cause Meier-Gorlin syndrome and craniosynostosis. American Journal of Human Genetics, 99(1), 125-138. doi: 10.1016/j.ajhg.2016.05.019
Journal - Research Article
Harley, M. E., Murina, O., Leitch, A., Higgs, M. R., Bicknell, L. S., Yigit, G., … Jackson, A. P. (2016). TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. Nature Genetics, 48(1), 38-43. doi: 10.1038/ng.3451
Journal - Research Article
Martin, C.-A., Murray, J. E., Carroll, P., Leitch, A., Mackenzie, K. J., Halachev, M., … Bicknell, L. S., … Jackson, A. P. (2016). Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis. Genes & Development, 30, 2158-2172. doi: 10.1101/gad.286351.116
Journal - Research Article
Günther, C., Kind, B., Reijns, M. A. M., Berndt, N., Martinez-Bueno, M., Wolf, C., … Bicknell, L., … Lee-Kirsch, M. A. (2015). Defective removal of ribonucleotides from DNA promotes systemic autoimmunity. Journal of Clinical Investigation, 125(1), 413-424. doi: 10.1172/JCI78001
Journal - Research Article
Murray, J. E., van der Burg, M., IJspeert, H., Carroll, P., Wu, Q., Ochi, T., … Bicknell, L. S. (2015). Mutations in the NHEJ component XRCC4 cause primordial dwarfism. American Journal of Human Genetics, 96(3), 412-424. doi: 10.1016/j.ajhg.2015.01.013
Journal - Research Article
Waters, A. M., Asfahani, R., Carroll, P., Bicknell, L., Lescai, F., Bright, A., … Beales, P. L. (2015). The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes. Journal of Medical Genetics, 52(3), 147-156. doi: 10.1136/jmedgenet-2014-102691
Journal - Research Article
Martin, C.-A., Ahmad, I., Klingseisen, A., Hussain, M. S., Bicknell, L. S., Leitch, A., … Jackson, A. P. (2014). Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. Nature Genetics, 46(12), 1283-1292. doi: 10.1038/ng.3122
Journal - Research Article
Murray, J. E., Bicknell, L. S., Yigit, G., Duker, A. L., van Kogelenberg, M., Haghayegh, S., … Jackson, A. P. (2014). Extreme growth failure is a common presentation of ligase IV deficiency. Human Mutation, 35(1), 76-85. doi: 10.1002/humu.22461
Journal - Research Article
Lancaster, M. A., Renner, M., Martin, C.-A., Wenzel, D., Bicknell, L. S., Hurles, M. E., … Knoblich, J. A. (2013). Cerebral organoids model human brain development and microcephaly. Nature, 501(7467), 373-379. doi: 10.1038/nature12517
Journal - Research Article
Meynert, A. M., Bicknell, L. S., Hurles, M. E., Jackson, A. P., & Taylor, M. S. (2013). Quantifying single nucleotide variant detection sensitivity in exome sequencing. BMC Bioinformatics, 14, 195. doi: 10.1186/1471-2105-14-195
Journal - Research Article
Bober, M. B., Niiler, T., Duker, A. L., Murray, J. E., Ketterer, T., Harley, M. E., … Bicknell, L. S., … Jackson, A. P. (2012). Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations. American Journal of Medical Genetics Part A, 158 A(11), 2719-2725. doi: 10.1002/ajmg.a.35447
Journal - Research Article
de Munnik, S. A., Bicknell, L. S., Aftimos, S., Al-Aama, J. Y., van Bever, Y., Bober, M. B., … Bongers, E. M. H. F. (2012). Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. European Journal of Human Genetics, 20(6), 598-606. doi: 10.1038/ejhg.2011.269
Journal - Research Article
de Munnik, S. A., Otten, B. J., Schoots, J., Bicknell, L. S., Aftimos, S., Al-Aama, J. Y., … Bongers, E. M. H. F. (2012). Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder. American Journal of Medical Genetics Part A, 158 A(11), 2733-2742. doi: 10.1002/ajmg.a.35681
Journal - Research Article
Bicknell, L. S., Bongers, E. M. H. F., Leitch, A., Brown, S., Schoots, J., Harley, M. E., … Jackson, A. P. (2011). Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nature Genetics, 43(4), 356-360. doi: 10.1038/ng.775
Journal - Research Article
Bicknell, L. S., Walker, S., Klingseisen, A., Stiff, T., Leitch, A., Kerzendorfer, C., … Jeggo, P. A. (2011). Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. Nature Genetics, 43(4), 350-356. doi: 10.1038/ng.776
Journal - Research Article
Huang-Doran, I., Bicknell, L. S., Finucane, F. M., Rocha, N., Porter, K. M., Tung, Y. C. L., … for the Majewski Osteodysplastic Primordial Dwarfism Study Group. (2011). Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes. Diabetes, 60(3), 925-935. doi: 10.2337/db10-1334
Journal - Research Article
Kalay, E., Yigit, G., Aslan, Y., Brown, K. E., Pohl, E., Bicknell, L. S., … Wollnik, B. (2011). CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nature Genetics, 43(1), 23-26. doi: 10.1038/ng.725
Journal - Research Article
Leung, J. W., Leitch, A., Wood, J. L., Shaw-Smith, C., Metcalfe, K., Bicknell, L. S., … Chen, J. (2011). SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensation. Journal of Biological Chemistry, 286(24), 21393-21400. doi: 10.1074/jbc.M110.208793
Journal - Research Article
Rainger, J., van Beusekom, E., Ramsay, J. K., McKie, L., Al-Gazali, L., Pallotta, R., … Bicknell, L., … FitzPatrick, D. R. (2011). Loss of the BMP antagonist, SMOC-1, causes ophthalmo-acromelic (Waardenburg anophthalmia) syndrome in humans and mice. PLoS Genetics, 7(7), e1002114. doi: 10.1371/journal.pgen.1002114
Journal - Research Article
Bicknell, L. S., Pitt, J., Aftimos, S., Ramadas, R., Maw, M. A., & Robertson, S. P. (2008). A missense mutation in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. European Journal of Human Genetics, 16, 1176-1186. doi: 10.1038/ejhg.2008.91
Journal - Research Article
Bicknell, L. S., Farrington-Rock, C., Shafeghati, Y., Rump, P., Alanay, Y., Alembik, Y., … Robertson, S. P. (2007). A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. Journal of Medical Genetics, 44, 89-98.
Journal - Research Article
Farrington-Rock, C., Firestein, M. H., Bicknell, L. S., Superti-Furga, A., Bacino, C. A., Cormier-Daire, V., … Robertson, S. P., … Krakow, D. (2006). Mutations in two regions of FLNB result in atelosteogenesis I and III. Human Mutation, 27(7), 705-710. doi: 10.1002/humu.20348
Journal - Research Article
Bicknell, L. S., Morgan, T., Bonafé, L., Wessels, M. W., Bialer, M. G., Willems, P. J., … Robertson, S. P. (2005). Mutations in FLNB cause boomerang dysplasia. Journal of Medical Genetics, 42(7), e43. doi: 10.1136/jmg.2004.029967
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
Llorens-Agost, M., Luessing, J., van Beneden, A., Eykelenboom, J., O'Reilly, D., Bicknell, L. S., … Lowndes, N. F. (2018). Analysis of novel missense ATR mutations reveals new splicing defects underlying Seckel Syndrome. Human Mutation, 39, 1847-1853. doi: 10.1002/humu.23648
Journal - Research Other
Logan, C. V., Murray, J. E., Parry, D. A., Robertson, A., Bellelli, R., Tarnauskaite, Z., … Bicknell, L. S., … Jackson, A. P. (2018). DNA polymerase epsilon deficiency causes IMAGe syndrome with variable immunodeficiency [Report]. American Journal of Human Genetics, 103(6), 1038-1044. doi: 10.1016/j.ajhg.2018.10.024
Journal - Research Other
Kroigard, A. B., Jackson, A. P., Bicknell, L. S., Baple, E., Brusgaard, K., Hansen, L. K., & Ousager, L. B. (2016). Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1. Clinical Dysmorphology, 25(2), 68-72. doi: 10.1097/mcd.0000000000000110
Journal - Research Other
Pagnamenta, A. T., Murray, J. E., Yoon, G., Akha, E. S., Harrison, V., Bicknell, L. S., … Knight, S. J. L. (2012). A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss [Clinical report]. American Journal of Medical Genetics Part A, 158 A(10), 2577-2582. doi: 10.1002/ajmg.a.35558
Journal - Research Other
Mulligan, M. R., Jenkins, D. E., Damsteegt, E., Beck, C., & Bicknell, L. S. (2021). The developmental effects of disrupting DONSON: A gene involved in genetic microcephaly. New Zealand Medical Journal, 134(1537), (pp. 115). Retrieved from https://www.nzma.org.nz/journal
Conference Contribution - Published proceedings: Abstract
Bicknell, L. (2017). Deciphering the role of DNA replication in human growth and development. Proceedings of the Annual Conference of the Genetics Society of Australasia (GSA) with the New Zealand Society for Biochemistry and Molecular Biology (NZSBMB). 622. Retrieved from http://gen2017.w.events4you.currinda.com
Conference Contribution - Published proceedings: Abstract
Taylor, A., Beck, C., & Bicknell, L. (2017). Modelling rare disease in Xenopus laevis using CRISPR/Cas9. Proceedings of the Annual Conference of the Genetics Society of Australasia (GSA) with the New Zealand Society for Biochemistry and Molecular Biology (NZSBMB). 689. Retrieved from http://gen2017.w.events4you.currinda.com
Conference Contribution - Published proceedings: Abstract
Bicknell, L., Sutherland-Smith, A., Pitt, J., Maw, M., Ramadas, R., Aftimos, S., & Robertson, S. (2007). Pathogenicity of a missense mutation in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5C5) in a consanguineous NZ family. New Zealand Medical Journal, 120(1262). Retrieved from http://journal.nzma.org.nz/journal/120-1262/2740/content.pdf
Conference Contribution - Published proceedings: Abstract
Bicknell, L., Pitt, J., Maw, M., Ramadas, R., Wilson, C., Aftimos, S., & Robertson, S. (2006). Deficiency of delta-1-pyrroline-5-carboxylate synthase (P5CS) in a consanguineous NZ family. Proceedings of the 11th International Congress of Human Genetics. Retrieved from http://www.ichg2006.com/abstract/461.htm
Conference Contribution - Published proceedings: Abstract
Knapp, K. M., & Bicknell, L. S. (2017, September). Discovering new disease causing genes using Chromium whole-genome sequencing. Poster session presented at the Queenstown Molecular Biology (QMB) Meetings, Queenstown, New Zealand.
Conference Contribution - Poster Presentation (not in published proceedings)
Bicknell, L. (2018, August). Gene hunting in Meier-Gorlin syndrome. Verbal presentation at the Queenstown Molecular Biology (QMB) Meetings, Queenstown, New Zealand.
Conference Contribution - Verbal presentation and other Conference outputs
Bicknell, L. (2017, June). Harnessing rare genetic disorders to understand human growth and development. Invited presentation at the Southern Health Symposium, Dunedin, New Zealand.
Conference Contribution - Verbal presentation and other Conference outputs
Bicknell, L. S. (2007). Genetic contributors to congenital joint dislocation (PhD). University of Otago, Dunedin, New Zealand. 264p.
Awarded Doctoral Degree