|Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas|
C Palles, JB Cazier, KM Howarth, E Domingo, AM Jones, P Broderick, ...
Nature genetics 45 (2), 136, 2013
|Integrating mapping-, assembly-and haplotype-based approaches for calling variants in clinical sequencing applications|
A Rimmer, H Phan, I Mathieson, Z Iqbal, SRF Twigg, AOM Wilkie, ...
Nature genetics 46 (8), 912, 2014
|Innate immune activity conditions the effect of regulatory variants upon monocyte gene expression|
BP Fairfax, P Humburg, S Makino, V Naranbhai, D Wong, E Lau, L Jostins, ...
Science 343 (6175), 1246949, 2014
|Genomic landscape of the individual host response and outcomes in sepsis: a prospective cohort study|
EE Davenport, KL Burnham, J Radhakrishnan, P Humburg, P Hutton, ...
The Lancet Respiratory Medicine 4 (4), 259-271, 2016
|A fine-scale chimpanzee genetic map from population sequencing|
A Auton, A Fledel-Alon, S Pfeifer, O Venn, L Ségurel, T Street, EM Leffler, ...
science 336 (6078), 193-198, 2012
|Factors influencing success of clinical genome sequencing across a broad spectrum of disorders|
JC Taylor, HC Martin, S Lise, J Broxholme, JB Cazier, A Rimmer, ...
Nature genetics 47 (7), 717-726, 2015
|Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer|
E Ruark, K Snape, P Humburg, C Loveday, I Bajrami, R Brough, ...
Nature 493 (7432), 406-410, 2013
|Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis|
HC Martin, GE Kim, AT Pagnamenta, Y Murakami, GL Carvill, E Meyer, ...
Human molecular genetics 23 (12), 3200-3211, 2014
|Choice of transcripts and software has a large effect on variant annotation|
DJ McCarthy, P Humburg, A Kanapin, MA Rivas, K Gaulton, JB Cazier, ...
Genome medicine 6 (3), 26, 2014
|Extensive characterization of NF-κB binding uncovers non-canonical motifs and advances the interpretation of genetic functional traits|
D Wong, A Teixeira, S Oikonomopoulos, P Humburg, IN Lone, D Saliba, ...
Genome biology 12 (7), R70, 2011
|Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden|
JB Cazier, SR Rao, CM McLean, AK Walker, BJ Wright, EEM Jaeger, ...
Nature communications 5 (1), 1-13, 2014
|Genomic modulators of gene expression in human neutrophils|
V Naranbhai, BP Fairfax, S Makino, P Humburg, D Wong, E Ng, AVS Hill, ...
Nature communications 6, 7545, 2015
|Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders|
PA van Schouwenburg, EE Davenport, AK Kienzler, I Marwah, B Wright, ...
Clinical immunology 160 (2), 301-314, 2015
|Shared and distinct aspects of the sepsis transcriptomic response to fecal peritonitis and pneumonia|
KL Burnham, EE Davenport, J Radhakrishnan, P Humburg, AC Gordon, ...
American journal of respiratory and critical care medicine 196 (3), 328-339, 2017
|Parameter estimation for robust HMM analysis of ChIP-chip data|
P Humburg, D Bulger, G Stone
Bmc Bioinformatics 9 (1), 343, 2008
|Gain-of-function mutations in ZIC1 are associated with coronal craniosynostosis and learning disability|
SRF Twigg, J Forecki, JAC Goos, ICA Richardson, AJM Hoogeboom, ...
The American Journal of Human Genetics 97 (3), 378-388, 2015
|IgD attenuates the IgM-induced anergy response in transitional and mature B cells|
Z Sabouri, S Perotti, E Spierings, P Humburg, M Yabas, H Bergmann, ...
Nature communications 7 (1), 1-11, 2016
|NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease|
T Schwerd, RV Bryant, S Pandey, M Capitani, L Meran, JB Cazier, J Jung, ...
Mucosal immunology 11 (2), 562-574, 2018
|Genomic mapping of the MHC transactivator CIITA using an integrated ChIP-seq and genetical genomics approach|
D Wong, W Lee, P Humburg, S Makino, E Lau, V Naranbhai, BP Fairfax, ...
Genome biology 15 (10), 494, 2014
|Validation and functional annotation of expression-based clusters based on gene ontology|
R Steuer, P Humburg, J Selbig
Bmc Bioinformatics 7 (1), 380, 2006