Suivre
Associate Professor Louise Bicknell
Associate Professor Louise Bicknell
Department of Biochemistry, University of Otago
Adresse e-mail validée de otago.ac.nz
Titre
Citée par
Citée par
Année
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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