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Dr Louise Bicknell

Louise Bicknell imageDr 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.

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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

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