| 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 | 426 | 2015 |
| The CATH Domain Structure Database and related resources Gene3D and DHS provide comprehensive domain family information for genome analysis F Pearl, A Todd, I Sillitoe, M Dibley, O Redfern, T Lewis, C Bennett, ... Nucleic acids research 33 (suppl_1), D247-D251, 2005 | 347 | 2005 |
| Universal fluctuations in correlated systems ST Bramwell, K Christensen, JY Fortin, PCW Holdsworth, HJ Jensen, ... Physical Review Letters 84 (17), 3744, 2000 | 329 | 2000 |
| Genomic and transcriptomic determinants of therapy resistance and immune landscape evolution during anti-EGFR treatment in colorectal cancer A Woolston, K Khan, G Spain, LJ Barber, B Griffiths, R Gonzalez-Exposito, ... Cancer cell 36 (1), 35-50. e9, 2019 | 223 | 2019 |
| Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model AH Németh, AC Kwasniewska, S Lise, R Parolin Schnekenberg, ... Brain 136 (10), 3106-3118, 2013 | 200 | 2013 |
| PepSite: prediction of peptide-binding sites from protein surfaces LG Trabuco, S Lise, E Petsalaki, RB Russell Nucleic Acids Research 40, W423-W427, 2012 | 197 | 2012 |
| 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 | 170 | 2014 |
| Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease ME Shanks, SM Downes, RR Copley, S Lise, J Broxholme, KAZ Hudspith, ... European Journal of Human Genetics 21, 274-280, 2013 | 150 | 2013 |
| Prediction of hot spot residues at protein-protein interfaces by combining machine learning and energy-based methods S Lise, C Archambeau, M Pontil, DT Jones BMC bioinformatics 10, 1-17, 2009 | 135 | 2009 |
| Mutations in REEP6 cause autosomal-recessive retinitis pigmentosa G Arno, SA Agrawal, A Eblimit, J Bellingham, M Xu, F Wang, C Chakarova, ... The American Journal of Human Genetics 99 (6), 1305-1315, 2016 | 134 | 2016 |
| Clinical BRCA1/2 Reversion Analysis Identifies Hotspot Mutations and Predicted Neoantigens Associated with Therapy Resistance SJ Pettitt, JR Frankum, M Punta, S Lise, J Alexander, Y Chen, TA Yap, ... Cancer discovery 10 (10), 1475-1488, 2020 | 130 | 2020 |
| Predictions of hot spot residues at protein-protein interfaces using support vector machines S Lise, D Buchan, M Pontil, DT Jones PLoS one 6 (2), e16774, 2011 | 117 | 2011 |
| Recessive Mutations in SPTBN2 Implicate β-III Spectrin in Both Cognitive and Motor Development S Lise, Y Clarkson, E Perkins, A Kwasniewska, E Sadighi Akha, ... PLoS genetics 8 (12), e1003074, 2012 | 113 | 2012 |
| Self-organized criticality and universality in a nonconservative earthquake model S Lise, M Paczuski Physical Review E 63 (3), 036111, 2001 | 109 | 2001 |
| Sequence patterns associated with disordered regions in proteins S Lise, DT Jones PROTEINS: Structure, Function, and Bioinformatics 58 (1), 144-150, 2005 | 105 | 2005 |
| Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene V Conti, A Carabalona, E Pallesi-Pocachard, E Parrini, RJ Leventer, ... Brain 136 (11), 3378-3394, 2013 | 101 | 2013 |
| Combination of whole genome sequencing, linkage, and functional studies implicates a missense mutation in titin as a cause of autosomal dominant cardiomyopathy with features of … R Hastings, CP De Villiers, C Hooper, L Ormondroyd, A Pagnamenta, ... Circulation: Cardiovascular Genetics 9 (5), 426-435, 2016 | 90 | 2016 |
| Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies AT Pagnamenta, S Lise, V Harrison, H Stewart, S Jayawant, ... Journal of Human Genetics 57 (1), 70-72, 2012 | 85 | 2012 |
| 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 |
| Genome-wide plasma DNA methylation features of metastatic prostate cancer A Wu, P Cremaschi, D Wetterskog, V Conteduca, GM Franceschini, ... The Journal of clinical investigation 130 (4), 1991-2000, 2020 | 81 | 2020 |
David JonesProfessor of Bioinformatics, University College LondonVerified email at ucl.ac.uk
