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List of works by Stefano Castellana

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

scientific article published in January 2016

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

scientific article published on 17 September 2019

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

scientific article published on 08 September 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

scientific article published on 5 September 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

scientific article

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

scientific article published on 22 May 2019

Association of a homozygous GCK missense mutation with mild diabetes

scientific article published on 14 June 2019

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

scientific article published on 16 September 2019

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

scientific article (publication date: 6 May 2011)

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

scientific article

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

scientific article

Identification of p53-target genes in Danio rerio

scientific article published on September 2016

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

scientific article published on 27 August 2014

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

scientific article published on December 2016

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

scientific article published on 17 December 2014

Molecular dynamics recipes for genome research.

scientific article published on 18 February 2017

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

scientific article

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

scientific article published on 5 May 2014

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

scientific article published on 3 March 2017

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

scientific article published on 01 October 2020

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

scientific article published on 27 March 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

scientific article published on 09 June 2018

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

scientific article published on 02 January 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

scientific article published on 05 December 2018

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

scientific article (publication date: 3 June 2008)

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

scientific article published on 13 January 2015

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