Lista de obras - Stefano Lise - Dominio Público Uruguay

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

artículo científico publicado en 2017

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

artículo científico publicado en 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.

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 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.

artículo científico publicado en 2006

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

artículo científico publicado en 2020

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

artículo científico publicado en 2015

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.

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2009

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

Self-organized criticality and universality in a nonconservative earthquake model

artículo científico publicado en 2001

Sequence patterns associated with disordered regions in proteins

artículo científico publicado en 2005

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

artículo científico publicado en 2005

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

artículo científico publicado en 2018

Universal Fluctuations in Correlated Systems

artículo científico publicado en 2000

Lista de obras de 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.

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

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