List of works - Eran Eyal

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

scientific article

A congenital neutrophil defect syndrome associated with mutations in VPS45.

scientific article published on 05 June 2013

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

scientific article

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

scientific article published on March 2017

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

scientific article published on December 17, 2012

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

scientific article

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

scientific article published on 8 March 2013

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

scientific article published on June 2013

Mutagen-Specific Mutation Signature Determines Global microRNA Binding ⬇️

scientific article published on November 9, 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

scientific article published on 13 November 2017

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

scientific article published on 17 July 2019

Somatic NRAS mutation in patient with generalized lymphatic anomaly

scientific article published on 3 February 2018

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

scientific article

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

scientific article

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

scientific article published on 12 January 2018

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

scientific article

List of works by Eran Eyal

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

A congenital neutrophil defect syndrome associated with mutations in VPS45.

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