List of works - Stefano Lise

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

scientific article

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

scientific article published on 08 March 2016

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

scientific article published on 29 January 2020

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

scientific article

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

scientific article

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

scientific article published on 22 July 2020

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.

scientific article published on 13 September 2016

Comment on “Self-Organized Criticality in the Olami-Feder-Christensen Model”

article

Docking protein domains in contact space.

scientific article published on 21 June 2006

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

scientific article published on December 1, 2011

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

scientific article published on 16 January 2020

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

scientific article

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

scientific article published on 02 August 2019

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

scientific article

Microenvironmental niche divergence shapes BRCA1-dysregulated ovarian cancer morphological plasticity

scientific article published in Nature Communications

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

scientific article published on 15 November 2018

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

scientific article published on 11 September 2013

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

scientific article published on 12 September 2012

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

scientific article published on 15 August 2013

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

scientific article

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

scientific article published in Physical Review Letters

PepSite: prediction of peptide-binding sites from protein surfaces

scientific article published on 16 May 2012

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

scientific journal article

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

scientific article

Predictions of hot spot residues at protein-protein interfaces using support vector machines.

scientific article

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

scientific article published on 02 July 2016

Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development

scientific article (publication date: 2012)

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

scientific article published on September 21, 2001

Self-organized criticality and universality in a nonconservative earthquake model

scientific article (publication date: 21 February 2001)

Sequence patterns associated with disordered regions in proteins

scientific article published on 01 January 2005

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

scientific article

Transitions in Nonconserving Models of Self-Organized Criticality

scientific article published on 01 March 1996

Ultra-Sensitive Mutation Detection and Genome-Wide DNA Copy Number Reconstruction by Error-Corrected Circulating Tumor DNA Sequencing

scientific article published in November 2018

Universal Fluctuations in Correlated Systems

scientific article

List of works by Stefano Lise

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

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

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

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

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

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

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.

Comment on “Self-Organized Criticality in the Olami-Feder-Christensen Model”

Docking protein domains in contact space.

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

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

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

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

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

Microenvironmental niche divergence shapes BRCA1-dysregulated ovarian cancer morphological plasticity

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

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

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

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

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

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

PepSite: prediction of peptide-binding sites from protein surfaces

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

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

Predictions of hot spot residues at protein-protein interfaces using support vector machines.

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

Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development

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

Self-organized criticality and universality in a nonconservative earthquake model

Sequence patterns associated with disordered regions in proteins

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

Transitions in Nonconserving Models of Self-Organized Criticality

Ultra-Sensitive Mutation Detection and Genome-Wide DNA Copy Number Reconstruction by Error-Corrected Circulating Tumor DNA Sequencing

Universal Fluctuations in Correlated Systems