Lista de obras -

A Congenital Neutrophil Defect Syndrome Associated with Mutations inVPS45 ⬇️

artículo científico publicado el 5 de junio de 2013

A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF).

artículo científico publicado en 2016

Characterizing of functional human coding RNA editing from evolutionary, structural, and dynamic perspectives.

artículo científico publicado en 2014

Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy.

artículo científico publicado en 2017

Detection of BCR‐ABL1 mutations in chronic myeloid leukaemia by massive parallel sequencing ⬇️

artículo científico publicado el 17 de diciembre de 2012

G23D: Online tool for mapping and visualization of genomic variants on 3D protein structures

artículo científico publicado en 2016

Global regulation of alternative splicing by adenosine deaminase acting on RNA (ADAR).

artículo científico publicado en 2013

MicroRNA-mediated loss of ADAR1 in metastatic melanoma promotes tumor growth

artículo científico publicado en 2013

Mutagen-Specific Mutation Signature Determines Global microRNA Binding ⬇️

artículo científico publicado el 9 de noviembre de 2011

Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.

scientific article published on 18 July 2016

RNA editing by ADAR1 leads to context-dependent transcriptome-wide changes in RNA secondary structure

artículo científico publicado en 2017

Reduced Function and Diversity of T Cell Repertoire and Distinct Clinical Course in Patients With IL7RA Mutation

artículo científico publicado en 2019

Somatic NRAS mutation in patient with generalized lymphatic anomaly

artículo científico publicado en 2018

Stem cells. m6A mRNA methylation facilitates resolution of naïve pluripotency toward differentiation

artículo científico publicado en 2015

The dynamic N(1)-methyladenosine methylome in eukaryotic messenger RNA

scientific journal article

The effect of gentamicin-induced readthrough on a novel premature termination codon of CD18 leukocyte adhesion deficiency patients

artículo científico publicado en 2010

Whole exome sequencing (WES) approach for diagnosing primary immunodeficiencies (PIDs) in a highly consanguineous community

scientific article published on 03 March 2020

Whole-genome sequencing reveals principles of brain retrotransposition in neurodevelopmental disorders

artículo científico publicado en 2018

e23D: database and visualization of A-to-I RNA editing sites mapped to 3D protein structures

artículo científico publicado en 2016

Lista de obras de

A Congenital Neutrophil Defect Syndrome Associated with Mutations inVPS45 ⬇️

A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF).

Characterizing of functional human coding RNA editing from evolutionary, structural, and dynamic perspectives.

Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy.

Detection of BCR‐ABL1 mutations in chronic myeloid leukaemia by massive parallel sequencing ⬇️

G23D: Online tool for mapping and visualization of genomic variants on 3D protein structures

Global regulation of alternative splicing by adenosine deaminase acting on RNA (ADAR).

MicroRNA-mediated loss of ADAR1 in metastatic melanoma promotes tumor growth

Mutagen-Specific Mutation Signature Determines Global microRNA Binding ⬇️

Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.

RNA editing by ADAR1 leads to context-dependent transcriptome-wide changes in RNA secondary structure

Reduced Function and Diversity of T Cell Repertoire and Distinct Clinical Course in Patients With IL7RA Mutation

Somatic NRAS mutation in patient with generalized lymphatic anomaly

Stem cells. m6A mRNA methylation facilitates resolution of naïve pluripotency toward differentiation

The dynamic N(1)-methyladenosine methylome in eukaryotic messenger RNA

The effect of gentamicin-induced readthrough on a novel premature termination codon of CD18 leukocyte adhesion deficiency patients

Whole exome sequencing (WES) approach for diagnosing primary immunodeficiencies (PIDs) in a highly consanguineous community

Whole-genome sequencing reveals principles of brain retrotransposition in neurodevelopmental disorders

e23D: database and visualization of A-to-I RNA editing sites mapped to 3D protein structures