| Integrating mapping-, assembly-and haplotype-based approaches for calling variants in clinical sequencing applications A Rimmer, H Phan, I Mathieson, Z Iqbal, SRF Twigg, WGS500 Consortium, ... Nature genetics 46 (8), 912-918, 2014 | 1114 | 2014 |
| 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), 136-144, 2013 | 1093 | 2013 |
| 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 | 820 | 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 | 633 | 2016 |
| 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 | 415 | 2015 |
| 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 | 324 | 2012 |
| 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 | 282 | 2014 |
| 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 | 274 | 2013 |
| Choice of transcripts and software has a large effect on variant annotation DJ McCarthy, P Humburg, A Kanapin, MA Rivas, K Gaulton, ... Genome medicine 6, 1-16, 2014 | 230 | 2014 |
| 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 | 191 | 2017 |
| 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, 1-19, 2011 | 190 | 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), 3756, 2014 | 169 | 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 (1), 7545, 2015 | 161 | 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 | 116 | 2015 |
| 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 | 83 | 2018 |
| 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), 13381, 2016 | 82 | 2016 |
| 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 | 70 | 2015 |
| Free play predicts self-regulation years later: Longitudinal evidence from a large Australian sample of toddlers and preschoolers Y Colliver, LJ Harrison, JE Brown, P Humburg Early Childhood Research Quarterly 59, 148-161, 2022 | 51 | 2022 |
| Blood pressure lowering and prevention of dementia: an individual patient data meta-analysis R Peters, Y Xu, O Fitzgerald, HL Aung, N Beckett, C Bulpitt, J Chalmers, ... European heart journal 43 (48), 4980-4990, 2022 | 47 | 2022 |
| Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice AT Pagnamenta, P Heemeryck, HC Martin, C Bosc, L Peris, I Uszynski, ... Human Molecular Genetics 28 (20), 3391-3405, 2019 | 47 | 2019 |
