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Associate Professor Louise Bicknell
Associate Professor Louise Bicknell
Department of Biochemistry, University of Otago
Verified email at otago.ac.nz
Title
Cited by
Cited by
Year
Cerebral organoids model human brain development and microcephaly
MA Lancaster, M Renner, CA Martin, D Wenzel, LS Bicknell, ME Hurles, ...
Nature 501 (7467), 373-379, 2013
46852013
CEP152 is a genome maintenance protein disrupted in Seckel syndrome
E Kalay, G Yigit, Y Aslan, KE Brown, E Pohl, LS Bicknell, H Kayserili, Y Li, ...
Nature genetics 43 (1), 23-26, 2011
2712011
Mutations in the pre-replication complex cause Meier-Gorlin syndrome
LS Bicknell, EMHF Bongers, A Leitch, S Brown, J Schoots, ME Harley, ...
Nature genetics 43 (4), 356-359, 2011
2672011
Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome
LS Bicknell, S Walker, A Klingseisen, T Stiff, A Leitch, C Kerzendorfer, ...
Nature genetics 43 (4), 350-355, 2011
2262011
Defective removal of ribonucleotides from DNA promotes systemic autoimmunity
C Günther, B Kind, MAM Reijns, N Berndt, M Martinez-Bueno, C Wolf, ...
The Journal of clinical investigation 125 (1), 413-424, 2015
2102015
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy
CA Martin, I Ahmad, A Klingseisen, MS Hussain, LS Bicknell, A Leitch, ...
Nature genetics 46 (12), 1283-1292, 2014
1892014
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB
LS Bicknell, C Farrington-Rock, Y Shafeghati, P Rump, Y Alanay, ...
Journal of medical genetics 44 (2), 89-98, 2007
1432007
Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis
CA Martin, JE Murray, P Carroll, A Leitch, KJ Mackenzie, M Halachev, ...
Genes & development 30 (19), 2158-2172, 2016
1182016
Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis
SA De Munnik, LS Bicknell, S Aftimos, JY Al-Aama, Y Van Bever, ...
European Journal of Human Genetics 20 (6), 598-606, 2012
1142012
A missense mutation in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome
LS Bicknell, J Pitt, S Aftimos, R Ramadas, MA Maw, SP Robertson
European journal of human genetics 16 (10), 1176-1186, 2008
1082008
Mutations in CDC45, encoding an essential component of the pre-initiation complex, cause Meier-Gorlin syndrome and craniosynostosis
AL Fenwick, M Kliszczak, F Cooper, J Murray, L Sanchez-Pulido, ...
The American Journal of Human Genetics 99 (1), 125-138, 2016
1052016
Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice
J Rainger, E van Beusekom, JK Ramsay, L McKie, L Al-Gazali, R Pallotta, ...
PLoS genetics 7 (7), e1002114, 2011
992011
Quantifying single nucleotide variant detection sensitivity in exome sequencing
AM Meynert, LS Bicknell, ME Hurles, AP Jackson, MS Taylor
BMC bioinformatics 14, 1-10, 2013
952013
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes
AM Waters, R Asfahani, P Carroll, L Bicknell, F Lescai, A Bright, ...
Journal of medical genetics 52 (3), 147-156, 2015
932015
Extreme growth failure is a common presentation of ligase IV deficiency
JE Murray, LS Bicknell, G Yigit, AL Duker, M van Kogelenberg, ...
Human mutation 35 (1), 76-85, 2014
912014
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism
JJ Reynolds, LS Bicknell, P Carroll, MR Higgs, R Shaheen, JE Murray, ...
Nature genetics 49 (4), 537-549, 2017
882017
Mutations in FLNB cause boomerang dysplasia
LS Bicknell, T Morgan, L Bonafe, MW Wessels, MG Bialer, PJ Willems, ...
Journal of Medical Genetics 42 (7), e43-e43, 2005
882005
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism
ME Harley, O Murina, A Leitch, MR Higgs, LS Bicknell, G Yigit, ...
Nature genetics 48 (1), 36-43, 2016
852016
Mutations in the NHEJ component XRCC4 cause primordial dwarfism
JE Murray, M Van Der Burg, H IJspeert, P Carroll, Q Wu, T Ochi, A Leitch, ...
The American Journal of Human Genetics 96 (3), 412-424, 2015
852015
DNA polymerase epsilon deficiency causes IMAGe syndrome with variable immunodeficiency
CV Logan, JE Murray, DA Parry, A Robertson, R Bellelli, Ž Tarnauskaitė, ...
The American Journal of Human Genetics 103 (6), 1038-1044, 2018
782018
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