Lista de obras - Stefano Castellana - Dominio Público Uruguay

A Broad Overview of Computational Methods for Predicting the Pathophysiological Effects of Non-synonymous Variants.

artículo científico publicado en 2016

A Multi-Layered Study on Harmonic Oscillations in Mammalian Genomics and Proteomics

artículo científico publicado en 2019

A novel mutation in CDH11 , encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome

artículo científico publicado en 2018

A primary tumor gene expression signature identifies a crucial role played by tumor stroma myofibroblasts in lymph node involvement in oral squamous cell carcinoma

artículo científico publicado en 2017

A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion

scientific article published on 24 September 2018

A solid quality-control analysis of AB SOLiD short-read sequencing data

artículo científico publicado en 2012

Are Gaming-Enabled Graphic Processing Unit Cards Convenient for Molecular Dynamics Simulation?

artículo científico publicado en 2019

Association of a homozygous GCK missense mutation with mild diabetes

scientific article published on 14 June 2019

Congruency in the prediction of pathogenic missense mutations: state-of-the-art web-based tools ⬇️

artículo científico publicado el 15 de marzo de 2013

Double missense mutations in cardiac myosin-binding protein C and myopalladin genes: A case report with diffuse coronary disease, complete atrioventricular block, and progression to dilated cardiomyopathy

artículo científico publicado en 2019

Evolutionary patterns of the mitochondrial genome in Metazoa: exploring the role of mutation and selection in mitochondrial protein coding genes

artículo científico publicado en 2011

Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.

artículo científico publicado en 2016

Gene code CD274/PD-L1: from molecular basis toward cancer immunotherapy

article

High-confidence assessment of functional impact of human mitochondrial non-synonymous genome variations by APOGEE

artículo científico publicado en 2017

Identification of p53-target genes in Danio rerio

artículo científico publicado en 2016

Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort.

artículo científico publicado en 2014

Inflammatory Bowel Disease Meets Systems Biology: A Multi-Omics Challenge and Frontier.

artículo científico publicado en 2016

MitImpact: an exhaustive collection of pre-computed pathogenicity predictions of human mitochondrial non-synonymous variants.

artículo científico publicado en 2014

Molecular dynamics recipes for genome research.

artículo científico publicado en 2017

Multifaceted enrichment analysis of RNA-RNA crosstalk reveals cooperating micro-societies in human colorectal cancer

artículo científico publicado en 2016

Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome

artículo científico publicado en 2014

Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing.

artículo científico publicado en 2017

Pyntacle: a parallel computing-enabled framework for large-scale network biology analysis

artículo científico publicado en 2020

Stepwise analysis of MIR9 loci identifies miR-9-5p to be involved in Oestrogen regulated pathways in breast cancer patients

artículo científico publicado en 2017

Sudden cardiac death in J wave syndrome with short QT associated to a novel mutation in Nav 1.8 coding gene SCN10A: First case report for a possible pharmacogenomic role

artículo científico publicado en 2018

Sudden death in mild hypertrophic cardiomyopathy with compound DSG2/DSC2/MYH6 mutations: Revisiting phenotype after genetic assessment in a master runner athlete

artículo científico publicado en 2019

Systematic Analysis of Mouse Genome Reveals Distinct Evolutionary and Functional Properties Among Circadian and Ultradian Genes

article

TRIM8-driven transcriptomic profile of neural stem cells identified glioma-related nodal genes and pathways

artículo científico publicado en 2018

The RHNumtS compilation: features and bioinformatics approaches to locate and quantify Human NumtS

artículo científico publicado en 2008

The biological clock and the molecular basis of lysosomal storage diseases.

artículo científico publicado en 2015

Lista de obras de Stefano Castellana

A Broad Overview of Computational Methods for Predicting the Pathophysiological Effects of Non-synonymous Variants.

A Multi-Layered Study on Harmonic Oscillations in Mammalian Genomics and Proteomics

A novel mutation in CDH11 , encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome

A primary tumor gene expression signature identifies a crucial role played by tumor stroma myofibroblasts in lymph node involvement in oral squamous cell carcinoma

A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion

A solid quality-control analysis of AB SOLiD short-read sequencing data

Are Gaming-Enabled Graphic Processing Unit Cards Convenient for Molecular Dynamics Simulation?

Association of a homozygous GCK missense mutation with mild diabetes

Congruency in the prediction of pathogenic missense mutations: state-of-the-art web-based tools ⬇️

Double missense mutations in cardiac myosin-binding protein C and myopalladin genes: A case report with diffuse coronary disease, complete atrioventricular block, and progression to dilated cardiomyopathy

Evolutionary patterns of the mitochondrial genome in Metazoa: exploring the role of mutation and selection in mitochondrial protein coding genes

Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.

Gene code CD274/PD-L1: from molecular basis toward cancer immunotherapy

High-confidence assessment of functional impact of human mitochondrial non-synonymous genome variations by APOGEE

Identification of p53-target genes in Danio rerio

Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort.

Inflammatory Bowel Disease Meets Systems Biology: A Multi-Omics Challenge and Frontier.

MitImpact: an exhaustive collection of pre-computed pathogenicity predictions of human mitochondrial non-synonymous variants.

Molecular dynamics recipes for genome research.

Multifaceted enrichment analysis of RNA-RNA crosstalk reveals cooperating micro-societies in human colorectal cancer

Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome

Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing.

Pyntacle: a parallel computing-enabled framework for large-scale network biology analysis

Stepwise analysis of MIR9 loci identifies miR-9-5p to be involved in Oestrogen regulated pathways in breast cancer patients

Sudden cardiac death in J wave syndrome with short QT associated to a novel mutation in Nav 1.8 coding gene SCN10A: First case report for a possible pharmacogenomic role

Sudden death in mild hypertrophic cardiomyopathy with compound DSG2/DSC2/MYH6 mutations: Revisiting phenotype after genetic assessment in a master runner athlete

Systematic Analysis of Mouse Genome Reveals Distinct Evolutionary and Functional Properties Among Circadian and Ultradian Genes

TRIM8-driven transcriptomic profile of neural stem cells identified glioma-related nodal genes and pathways

The RHNumtS compilation: features and bioinformatics approaches to locate and quantify Human NumtS

The biological clock and the molecular basis of lysosomal storage diseases.