List of works - Eleni Giannoulatou

Advances in the Genetics of Congenital Heart Disease: A Clinician's Guide.

scientific article published on February 2017

An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis

scientific article

Analysis of hundreds of cis-regulatory landscapes at high resolution in a single, high-throughput experiment.

scientific article

Binding of transcription factor GabR to DNA requires recognition of DNA shape at a location distinct from its cognate binding site.

scientific article published on 17 December 2015

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

scientific article

Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis

scientific article published on 6 January 2013

Comparison of somatic variant detection algorithms using Ion Torrent targeted deep sequencing data

scientific article published on 24 December 2019

Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline

scientific article

Decoding the complex genetic causes of heart diseases using systems biology

scientific article

Deficiency of filaggrin regulates endogenous cysteine protease activity, leading to impaired skin barrier function

scientific article

Distinct patterns of hepcidin and iron regulation during HIV-1, HBV, and HCV infections

scientific article

Early dynamic fate changes in haemogenic endothelium characterized at the single-cell level

scientific article

Effects of TP53 and PIK3CA mutations in early breast cancer: a matter of co-mutation and tumor-infiltrating lymphocytes.

scientific article published on July 2016

Epidemiology and treatment of pulmonary arterial hypertension.

scientific article published on 8 June 2017

Evaluation of the immunogenicity and impact on the latent HIV-1 reservoir of a conserved region vaccine, MVA.HIVconsv, in antiretroviral therapy-treated subjects

scientific article published on May 2017

Familial adenomatous patients with desmoid tumours show increased expression of miR-34a in serum and high levels in tumours

scientific article published on 30 June 2016

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

scientific article

GenoSNP: a variational Bayes within-sample SNP genotyping algorithm that does not require a reference population.

scientific article published on 24 July 2008

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

scientific article published in October 2013

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

scientific article

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

article

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

scientific article published on 8 August 2017

How to test bioinformatics software?

scientific article published on 13 August 2015

Interferon-induced transmembrane protein-3 genetic variant rs12252-C is associated with severe influenza in Chinese individuals

scientific article

Isogenic mice exhibit sexually-dimorphic DNA methylation patterns across multiple tissues

scientific article published on 13 December 2017

Male-lineage transmission of an acquired metabolic phenotype induced by grand-paternal obesity

scientific article published on 23 June 2016

Maternal iron deficiency perturbs embryonic cardiovascular development in mice

scientific article published on 08 June 2021

Myelodysplastic Syndromes Are Propagated by Rare and Distinct Human Cancer Stem Cells In Vivo

Myelodysplastic syndromes are propagated by rare and distinct human cancer stem cells in vivo.

scientific article published on 15 May 2014

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

scientific article published in August 2017

Pneumococcal genome sequencing tracks a vaccine escape variant formed through a multi-fragment recombination event

scientific article published on 29 January 2012

Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children

scientific article published on 26 May 2016

Prevalent somatic BRCA1 mutations shape clinically relevant genomic patterns of nasopharyngeal carcinoma in Southeast Europe

scientific article published on 31 August 2017

Rapidly Escalating Hepcidin and Associated Serum Iron Starvation Are Features of the Acute Response to Typhoid Infection in Humans

scientific article published on 22 September 2015

SVPV: a structural variant prediction viewer for paired-end sequencing datasets

scientific article published on 27 February 2017

Separation of Dual Oxidase 2 and Lactoperoxidase Expression in Intestinal Crypts and Species Differences May Limit Hydrogen Peroxide Scavenging During Mucosal Healing in Mice and Humans

scientific article published in December 2017

Smchd1-dependent and -independent pathways determine developmental dynamics of CpG island methylation on the inactive X chromosome.

scientific article

Survival of Idiopathic Pulmonary Arterial Hypertension Patients in the Modern Era in Australia and New Zealand

scientific article

TP53 mutations and protein immunopositivity may predict for poor outcome but also for trastuzumab benefit in patients with early breast cancer treated in the adjuvant setting

scientific article published on 26 April 2016

Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease

scientific article published on December 2014

The miR-200 family is increased in dysplastic lesions in ulcerative colitis patients.

scientific article

Transposon clusters as substrates for aberrant splice-site activation

scientific article published on 23 September 2020

Tumor Infiltrating Lymphocytes Affect the Outcome of Patients with Operable Triple-Negative Breast Cancer in Combination with Mutated Amino Acid Classes

scientific article

Verification and validation of bioinformatics software without a gold standard: a case study of BWA and Bowtie

scientific article published on 8 December 2014

Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes.

scientific article published on 8 February 2016

Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline.

scientific article

List of works by Eleni Giannoulatou

Advances in the Genetics of Congenital Heart Disease: A Clinician's Guide.

An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis

Analysis of hundreds of cis-regulatory landscapes at high resolution in a single, high-throughput experiment.

Binding of transcription factor GabR to DNA requires recognition of DNA shape at a location distinct from its cognate binding site.

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis

Comparison of somatic variant detection algorithms using Ion Torrent targeted deep sequencing data

Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline

Decoding the complex genetic causes of heart diseases using systems biology

Deficiency of filaggrin regulates endogenous cysteine protease activity, leading to impaired skin barrier function

Distinct patterns of hepcidin and iron regulation during HIV-1, HBV, and HCV infections

Early dynamic fate changes in haemogenic endothelium characterized at the single-cell level

Effects of TP53 and PIK3CA mutations in early breast cancer: a matter of co-mutation and tumor-infiltrating lymphocytes.

Epidemiology and treatment of pulmonary arterial hypertension.

Evaluation of the immunogenicity and impact on the latent HIV-1 reservoir of a conserved region vaccine, MVA.HIVconsv, in antiretroviral therapy-treated subjects

Familial adenomatous patients with desmoid tumours show increased expression of miR-34a in serum and high levels in tumours

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

GenoSNP: a variational Bayes within-sample SNP genotyping algorithm that does not require a reference population.

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

How to test bioinformatics software?

Interferon-induced transmembrane protein-3 genetic variant rs12252-C is associated with severe influenza in Chinese individuals

Isogenic mice exhibit sexually-dimorphic DNA methylation patterns across multiple tissues

Male-lineage transmission of an acquired metabolic phenotype induced by grand-paternal obesity

Maternal iron deficiency perturbs embryonic cardiovascular development in mice

Myelodysplastic Syndromes Are Propagated by Rare and Distinct Human Cancer Stem Cells In Vivo

Myelodysplastic Syndromes Are Propagated by Rare and Distinct Human Cancer Stem Cells In Vivo

Myelodysplastic syndromes are propagated by rare and distinct human cancer stem cells in vivo.

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

Pneumococcal genome sequencing tracks a vaccine escape variant formed through a multi-fragment recombination event

Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children

Prevalent somatic BRCA1 mutations shape clinically relevant genomic patterns of nasopharyngeal carcinoma in Southeast Europe

Rapidly Escalating Hepcidin and Associated Serum Iron Starvation Are Features of the Acute Response to Typhoid Infection in Humans

SVPV: a structural variant prediction viewer for paired-end sequencing datasets

Separation of Dual Oxidase 2 and Lactoperoxidase Expression in Intestinal Crypts and Species Differences May Limit Hydrogen Peroxide Scavenging During Mucosal Healing in Mice and Humans

Smchd1-dependent and -independent pathways determine developmental dynamics of CpG island methylation on the inactive X chromosome.

Survival of Idiopathic Pulmonary Arterial Hypertension Patients in the Modern Era in Australia and New Zealand

TP53 mutations and protein immunopositivity may predict for poor outcome but also for trastuzumab benefit in patients with early breast cancer treated in the adjuvant setting

Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease

The miR-200 family is increased in dysplastic lesions in ulcerative colitis patients.

Transposon clusters as substrates for aberrant splice-site activation

Tumor Infiltrating Lymphocytes Affect the Outcome of Patients with Operable Triple-Negative Breast Cancer in Combination with Mutated Amino Acid Classes

Verification and validation of bioinformatics software without a gold standard: a case study of BWA and Bowtie

Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes.

Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline.