S. Lise

发表

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Davis J. McCarthy, Calliope A. Dendrou, Lisa J. Murray, 2015, Nature Genetics.

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study

A. Melcher, M. Punta, S. Lise, 2020, Frontiers in Immunology.

Clinical BRCA1/2 reversion analysis identifies hotspot mutations and predicted neoantigens associated with therapy resistance.

A. Tutt, M. Punta, S. Pettitt, 2020, Cancer discovery.

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

Jiannis Ragoussis, Andrea H. Németh, David Buck, 2013, Brain : a journal of neurology.

Recessive Mutations in SPTBN2 Implicate β-III Spectrin in Both Cognitive and Motor Development

Peter Donnelly, Gilean McVean, Jean-Baptiste Cazier, 2012, PLoS genetics.

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

John Broxholme, Jiannis Ragoussis, Mark W Hankins, 2012, European Journal of Human Genetics.

Langevin equations coupled through correlated noises

A. Maritan, M. Swift, S. Lise, 1999 .

Self-organization to criticality in a system without conservation law

Stefano Lise, S. Lise, 2002 .

Nonconservative earthquake model of self-organized criticality on a random graph.

Maya Paczuski, Stefano Lise, M. Paczuski, 2002, Physical review letters.

Making the most of RNA-seq: Pre-processing sequencing data with Opossum for reliable SNP variant detection

Stefano Lise, Laura E Oikkonen, S. Lise, 2017, Wellcome open research.

Extreme intratumour heterogeneity and driver evolution in mismatch repair deficient gastro-oesophageal cancer

G. Sauter, M. Gerlinger, A. Marx, 2019, Nature Communications.

Genome-wide plasma DNA methylation features of metastatic prostate cancer

M. B. Pereira, F. Demichelis, G. Franceschini, 2020, The Journal of clinical investigation.

In vivo modelling of chemo-resistant neuroblastoma provides new insights into chemo-refractory disease and metastasis.

N. Sebire, S. Robinson, Dimitrios Kleftogiannis, 2019, Cancer research.

Prediction of protein-protein and protein-ligand interactions from protein structures

Liam J. McGuffin, Kevin Bryson, J. S. Sodhi, 2005 .

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

John Broxholme, Jiannis Ragoussis, Mark W Hankins, 2013, European Journal of Human Genetics.

Accumulation of copy number alterations and clinical progression across advanced prostate cancer

D. Berney, M. Parmar, M. Sydes, 2022, Genome medicine.

Allele-informed copy number evaluation of plasma DNA samples from metastatic prostate cancer patients: the PCF_SELECT consortium assay.

M. Rubin, A. Wyatt, H. Beltran, 2022, NAR cancer.

Treatment-mediated selection of lethal prostate cancer clones defined by copy number architectures

P. Cremaschi, G. Attard, S. Friedrich, 2022, bioRxiv.

Boundary effects in a random neighbor model of earthquakes

Italy., U. Padova, S. Lise, 1998, cond-mat/9801054.

Scaling law for seismic hazard after a main shock

M. Paczuski, A. Stella, S. Lise, 2004, cond-mat/0403037.

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations.

A. Pagnamenta, A. Represa, Jenny C. Taylor, 2017, Journal of visualized experiments : JoVE.

Self-organization to criticality in a system without conservation law

S. Lise, 2002, cond-mat/0204490.

Nonconservative earthquake model of self-organized criticality on a random graph.

M. Paczuski, S. Lise, 2002, Physical review letters.

Scaling in a nonconservative earthquake model of self-organized criticality.

M. Paczuski, S. Lise, 2001, Physical review. E, Statistical, nonlinear, and soft matter physics.

Self-organized criticality and universality in a nonconservative earthquake model.

M. Paczuski, S. Lise, Stefano Lise, 2000, Physical review. E, Statistical, nonlinear, and soft matter physics.

Bethe approximation for a semiflexible polymer chain

A. Maritan, A. Pelizzola, S. Lise, 1998, cond-mat/9809210.

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study

A. Melcher, M. Punta, S. Lise, 2019, bioRxiv.

Identification of single nucleotide variants using position-specific error estimation in deep sequencing data

Marco Punta, Anuradha Jayaram, Shahneen Sandhu, 2018, bioRxiv.

Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin

R. Copley, R. Foster, M. Hankins, 2012, Genetics in Medicine.

N ov 2 00 0 Bethe Approximation for Self-Interacting Lattice Trees

P. Rios, A. Pelizzola, S. Lise, 2008 .

Bethe approximation for self-interacting lattice trees

P. Rios, A. Pelizzola, S. Lise, 2000, cond-mat/0011258.

Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden

Peter Donnelly, Gil McVean, Paolo Piazza, 2014, Nature Communications.

The CATH Domain Structure Database and related resources Gene3D and DHS provide comprehensive domain family information for genome analysis

Frances M. G. Pearl, Andrew P. Harrison, David A. Lee, 2004, Nucleic Acids Res..

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

Peter M. G. Munro, G. Holder, V. Plagnol, 2016, American journal of human genetics.

Genomic and Transcriptomic Determinants of Therapy Resistance and Immune Landscape Evolution during Anti-EGFR Treatment in Colorectal Cancer

M. Gerlinger, M. Davies, K. von Loga, 2018, bioRxiv.

Genomic and Transcriptomic Determinants of Therapy Resistance and Immune Landscape Evolution during Anti-EGFR Treatment in Colorectal Cancer

M. Gerlinger, M. Davies, K. von Loga, 2018, bioRxiv.

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 Left Ventricular Noncompaction

A. Pagnamenta, S. Knight, H. Watkins, 2016, Circulation. Cardiovascular genetics.

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.

I. Scheffer, A. Pagnamenta, F. Michel, 2013, Brain : a journal of neurology.

Periventricular heterotopia in 6 q terminal deletion syndrome : role of the C 6 orf 70 gene

I. Scheffer, A. Pagnamenta, F. Michel, 2013 .

Premalignant SOX2 overexpression in the fallopian tubes of ovarian cancer patients: Discovery and validation studies

Rebecca Yu Zhang, C. Yau, G. McVean, 2016, EBioMedicine.

Erythrocytosis associated with a novel missense mutation in the BPGM gene

Davis J. McCarthy, Lisa J. Murray, P. Donnelly, 2010, Haematologica.

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies

A. Pagnamenta, D. Keays, I. Mathieson, 2011, Journal of Human Genetics.

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

Martin W. Breuss, A. Reymond, A. Pagnamenta, 2018, Neuron.

Mutations in MAST 1 Caus e Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations Graphical

Martin W. Breuss, A. Reymond, A. Pagnamenta, 2018 .

Sequence patterns associated with disordered regions in proteins

D. T. Jones, S. Lise, S Lise, 2004, Proteins.

A de novo frameshift in HNRNPK causing a Kabuki‐like syndrome with nodular heterotopia

A. Pagnamenta, S. Knight, H. Stewart, 2016, Clinical genetics.

Microenvironmental niche divergence shapes BRCA1-dysregulated ovarian cancer morphological plasticity

Yinyin Yuan, M. Punta, A. Sottoriva, 2018, Nature Communications.

Carbon dating cancer: defining the chronology of metastatic progression in colorectal cancer

M. Fassan, M. Greaves, C. Maley, 2017, Annals of oncology : official journal of the European Society for Medical Oncology.

Docking protein domains in contact space

David T. Jones, David T. Jones, Stefano Lise, 2006, BMC Bioinformatics.

PHASE DIAGRAM AND CRITICAL BEHAVIOUR OF HOMOPOLYMERS WITH STERIC FRUSTRATION

S. Lise, 1998 .

Prediction of hot spot residues at protein-protein interfaces by combining machine learning and energy-based methods

Massimiliano Pontil, Cédric Archambeau, David T. Jones, 2009, BMC Bioinformatics.

Predictions of Hot Spot Residues at Protein-Protein Interfaces Using Support Vector Machines

Daniel W. A. Buchan, David T. Jones, M. Pontil, 2011, PloS one.

A pr 2 00 2 Self-Organisation to Criticality in a System without Conservation

S. Lise, 2008 .

Ultra-sensitive mutation detection and genome-wide DNA copy 11 number reconstruction by error corrected circulating tumor DNA 12 sequencing 13 14

M. Davies, B. Herman, M. Hubank, 2018 .

PepSite: prediction of peptide-binding sites from protein surfaces

Robert B. Russell, Evangelia Petsalaki, Stefano Lise, 2012, Nucleic Acids Res..

Predictions of Hot Spot Residues at Protein-Protein Interfaces Using Support Vector Machines

Daniel W. A. Buchan, David T. Jones, M. Pontil, 2011, PloS one.

Driver mutations in GNAQ and GNA11 genes as potential targets for precision immunotherapy in uveal melanoma patients

R. Sanz-Pamplona, Z. Trajanoski, M. Punta, 2022, bioRxiv.

A. Pagnamenta, S. Knight, H. Watkins, 2016, Circulation. Cardiovascular genetics.

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 left ventricular noncompaction

A. Pagnamenta, S. Knight, H. Watkins, 2016 .

Copy number architectures define treatment-mediated selection of lethal prostate cancer clones

A. Tutt, C. Caldas, E. Provenzano, 2023, Nature communications.

Reply to Comment on " Universal Fluctuations in Correlated Systems"

M. Sellitto, K. Christensen, H. Jensen, 2001, cond-mat/0209416.

Nonconservative sandpile models

Henrik Jeldtoft Jensen, Stefano Lise, Peyman Ghaffari, 1997 .

Identification of single nucleotide variants using position-specific error estimation in deep sequencing data

M. Punta, Dimitrios Kleftogiannis, V. Conteduca, 2018, BMC Medical Genomics.

NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease

Jimmy D Bell, J. Danesh, G. McVean, 2017, Mucosal Immunology.

Microenvironmental niche divergence shapes BRCA1-dysregulated ovarian cancer morphological plasticity

Marco Punta, Cecilia Orbegoso, Andrea Sottoriva, 2018, Nature Communications.

Mortality in neurofibromatosis 1: in North West England: an assessment of actuarial survival in a region of the UK since 1989

J. Ragoussis, R. Copley, D. Evans, 2013, European Journal of Human Genetics.

Targeted Capture and Next Generation Sequencing (NGS) of genes involved in Inherited Retinal Degeneration (IRD)

J. Ragoussis, R. Copley, Jenny C. Taylor, 2011 .

Mutations in MAST1 cause mega-corpus-callosum with

Martin W. Breuss, A. Pagnamenta, D. Keays, 2019 .

Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation

Jenny C. Taylor, Sian E. Piret, R. Thakker, 2016, American journal of medical genetics. Part A.

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2017, American journal of human genetics.

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies

A. Pagnamenta, D. Keays, I. Mathieson, 2011, Journal of Human Genetics.