Peter Humburg
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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
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