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 | 4685 | 2013 |
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 | 271 | 2011 |
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 | 267 | 2011 |
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 | 226 | 2011 |
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 | 210 | 2015 |
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 | 189 | 2014 |
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 | 143 | 2007 |
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 | 118 | 2016 |
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 | 114 | 2012 |
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 | 108 | 2008 |
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 | 105 | 2016 |
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 | 99 | 2011 |
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 | 95 | 2013 |
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 | 93 | 2015 |
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 | 91 | 2014 |
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 | 88 | 2017 |
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 | 88 | 2005 |
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 | 85 | 2016 |
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 | 85 | 2015 |
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 | 78 | 2018 |