Author details

Full Name

Eleni Giannoulatou

Affiliation

ORCID

Career Start Year

2008

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36792598	Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.	Nat Commun	2023
36656928	Heritable defects in telomere and mitotic function selectively predispose to sarcomas.	Science	2023
36804918	Polygenic risk scores are associated with atrial electrophysiologic substrate abnormalities and outcomes after atrial fibrillation catheter ablation.		2023
36792982	ConanVarvar: a versatile tool for the detection of large syndromic copy number variation from whole-genome sequencing data.		2023
34670123	Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genes.	American Heart Journal	2022
35522174	CHDgene: A Curated Database for Congenital Heart Disease Genes.	Circ Genom Precis Med	2022
35583931	Exploring the Genetic Architecture of Spontaneous Coronary Artery Dissection Using Whole-Genome Sequencing.	Circ Genom Precis Med	2022
35784319	Exposure of Keratinocytes to in the Context of Atopic Induces Changes in the Surface Glycosylation Pattern of Small Extracellular Vesicles to Enhance Their Propensity to Interact With Inhibitory Siglec Receptors.	Frontiers in Immunology	2022
35350246	Benchmarking the Effectiveness and Accuracy of Multiple Mitochondrial DNA Variant Callers: Practical Implications for Clinical Application.	Frontiers in Genetics	2022
36417540	The rapid evolution of flagellar ion selectivity in experimental populations of .	Science advances	2022
36115390	Insights into the genetic architecture underlying complex, critical congenital heart disease.	American Heart Journal	2022
36561772	Arterial dissections: Common features and new perspectives.		2022
33161028	Genotype-phenotype associations in colorectal adenocarcinomas and their matched metastases.	Human Pathology	2021
34103494	Maternal iron deficiency perturbs embryonic cardiovascular development in mice.	Nature Communications	2021
34141624	Tumor Genotyping and Homologous Recombination Repair Gene Variants in Patients With Epithelial Ovarian Cancer: Is Pathogenic Enough?	Frontiers in Oncology	2021
32713767	Spontaneous Coronary Artery Dissection and Fibromuscular Dysplasia: Vasculopathies With a Predilection for Women.	Heart Lung Circ	2021
33365374	Genotyping data of routinely processed matched primary/metastatic tumor samples.	Data in Brief	2021
32965162	Transposon clusters as substrates for aberrant splice-site activation.	RNA Biology	2021
33329587	Dynamics of Transforming Growth Factor (TGF)-Î² Superfamily Cytokine Induction During HIV-1 Infection Are Distinct From Other Innate Cytokines.	Frontiers in Immunology	2020
32321427	Multi-omic profiling reveals associations between the gut mucosal microbiome, the metabolome, and host DNA methylation associated gene expression in patients with colorectal cancer.	BMC Microbiol	2020
32315409	dv-trio: a family-based variant calling pipeline using DeepVariant.	Bioinformatics	2020
31891871	Is There an Independent Role of TERT and NF1 in High Grade Gliomas?	Translational Oncology	2020
32002119	Pathogenic mutations and overall survival in 3,084 patients with cancer: the Hellenic Cooperative Oncology Group Precision Medicine Initiative.	Oncotarget	2020
31625560	Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease.	Hum Mol Genet	2020
32345669	Prognostic Biomarkers in Early-stage Gastric Adenocarcinoma Treated With Adjuvant Chemoradiotherapy.	Cancer Genomics and Proteomics	2020
32108041	Tumor Mutational Patterns and Infiltrating Lymphocyte Density in Young and Elderly Patients With Breast Cancer.	Cancer Genomics and Proteomics	2020
31813956	Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants.	Human Molecular Genetics	2020
33125268	Spontaneous Coronary Artery Dissection: Insights on Rare Genetic Variation From Genome Sequencing.	Circ Genom Precis Med	2020
33276377	Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.	Hum Mol Genet	2020
30993321	Spliceogen: an integrative, scalable tool for the discovery of splice-altering variants.		2019
31874647	Comparison of somatic variant detection algorithms using Ion Torrent targeted deep sequencing data.	BMC Med Genomics	2019
31765830	VPOT: A Customizable Variant Prioritization Ordering Tool for Annotated Variants.		2019
29892087	A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy.	Genet Med	2019
30510168	Antiviral activity of bone morphogenetic proteins and activins.	Nat Microbiol	2019
30446274	Pathogenic BRCA1 mutations may be necessary but not sufficient for tissue genomic heterogeneity: Deep sequencing data from ovarian cancer patients.	Gynecol Oncol	2019
30545790	Relapsed and De Novo Metastatic HER2-positive Breast Cancer Treated With Trastuzumab: Tumor Genotypes and Clinical Measures Associated With Patient Outcome.	Clinical Breast Cancer	2019
30293987	Identification of clinically actionable variants from genome sequencing of families with congenital heart disease.	Genet Med	2019
30627872	Host and microbiome multi-omics integration: applications and methodologies.	Biophys Rev	2019
30621952	Association of the PHACTR1/EDN1 Genetic Locus With Spontaneous Coronary Artery Dissection.	J Am Coll Cardiol	2019
31018950	Opposite Prognostic Impact of Single PTEN-loss and Mutations in Early High-risk Breast Cancer.	Cancer Genomics and Proteomics	2019
30684130	Big data: the elements of good questions, open data, and powerful software.	Biophys Rev	2019
29555671	A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.	Circ Genom Precis Med	2018
28857155	Prevalent somatic BRCA1 mutations shape clinically relevant genomic patterns of nasopharyngeal carcinoma in Southeast Europe.	International Journal of Cancer	2018
29029950	Survival of Idiopathic Pulmonary Arterial Hypertension Patients in the Modern Era in Australia and New Zealand.	Heart Lung and Circulation	2018
30355600	Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes.	Genome Res	2018
29910053	Genetic burden and associations with adverse neurodevelopment in neonates with congenital heart disease.	American Heart Journal	2018
29855806	Phase II study of panitumumab combined with capecitabine and oxaliplatin as first-line treatment in metastatic colorectal cancer patients: clinical results including extended tumor genotyping.	Medical Oncology	2018
28209227	Advances in the Genetics of Congenital HeartÂ Disease: A Clinician's Guide.	Journal of the American College of Cardiology	2017
28556377	Deficiency of filaggrin regulates endogenous cysteine protease activity, leading to impaired skin barrier function.	Clinical and Experimental Dermatology	2017
28593996	Epidemiology and treatment of pulmonary arterial hypertension.	Nature Reviews Cardiology	2017