Stefano Lise
Cytowane przez
Cytowane przez
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
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
Universal fluctuations in correlated systems
ST Bramwell, K Christensen, JY Fortin, PCW Holdsworth, HJ Jensen, ...
Physical Review Letters 84 (17), 3744, 2000
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
PepSite: prediction of peptide-binding sites from protein surfaces
LG Trabuco, S Lise, E Petsalaki, RB Russell
Nucleic Acids Research 40, W423-W427, 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
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
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
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
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
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
Self-organized criticality and universality in a nonconservative earthquake model
S Lise, M Paczuski
Physical Review E 63 (3), 036111, 2001
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
Sequence patterns associated with disordered regions in proteins
S Lise, DT Jones
PROTEINS: Structure, Function, and Bioinformatics 58 (1), 144-150, 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
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
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
Clinical BRCA1/2 Reversion Analysis Identifies Hotspot Mutations and Predicted Neoantigens Associated with Therapy ResistanceBRCA Gene Reversions
SJ Pettitt, JR Frankum, M Punta, S Lise, J Alexander, Y Chen, TA Yap, ...
Cancer discovery 10 (10), 1475-1488, 2020
Nonconservative earthquake model of self-organized criticality on a random graph
S Lise, M Paczuski
Physical review letters 88 (22), 228301, 2002
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
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