Thessalia E. Papasavva

Nicosia, Cyprus

Last Updated: 09/26/2026

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Found 13 publications

Decoding thalassemia and sickle cell disease: advances in molecular technologies for comprehensive variant detection.

Decoding thalassemia and sickle cell disease: advances in molecular technologies for comprehensive variant detection.

Journal: Frontiers in genetics

Published: February 13, 2026

ACMG/AMP-Based Variant Classification of a Novel HBA2 Variant (HBA2: C.297del, Hb Taiping) in Compound Heterozygosity With Hb Adana (HBA2:C.179G>A) Causing Non-Deletional Hb H Disease.

ACMG/AMP-Based Variant Classification of a Novel HBA2 Variant (HBA2: C.297del, Hb Taiping) in Compound Heterozygosity With Hb Adana (HBA2:C.179G>A) Causing Non-Deletional Hb H Disease.

Journal: International journal of laboratory hematology

Published: September 08, 2025

Non-Invasive Determination of the Paternal Inheritance in Pregnancies at Risk for β-Thalassaemia by Analyzing Cell-Free Fetal DNA Using Targeted Next-Generation Sequencing.

Non-Invasive Determination of the Paternal Inheritance in Pregnancies at Risk for β-Thalassaemia by Analyzing Cell-Free Fetal DNA Using Targeted Next-Generation Sequencing.

Journal: International journal of molecular sciences

Published: November 25, 2024

Case report: Rethinking NGS analysis in diagnosing Diamond-Blackfan anemia syndrome.

Case report: Rethinking NGS analysis in diagnosing Diamond-Blackfan anemia syndrome.

Journal: Frontiers in genetics

Published: July 04, 2024

Unravelling the Complexity of the +33 C>G [HBB:c.-18C>G] Variant in Beta Thalassemia.

Unravelling the Complexity of the +33 C>G [HBB:c.-18C>G] Variant in Beta Thalassemia.

Journal: Biomedicines

Published: December 04, 2023

Optimized Droplet Digital PCR Assay on Cell-Free DNA Samples for Non-Invasive Prenatal Diagnosis: Application to Beta-Thalassemia.

Optimized Droplet Digital PCR Assay on Cell-Free DNA Samples for Non-Invasive Prenatal Diagnosis: Application to Beta-Thalassemia.

Journal: Clinical chemistry

Published: January 27, 2022

Fast Temperature-Gradient COLD PCR for the enrichment of the paternally inherited SNPs in cell free fetal DNA; an application to non-invasive prenatal diagnosis of β-thalassaemia.

Fast Temperature-Gradient COLD PCR for the enrichment of the paternally inherited SNPs in cell free fetal DNA; an application to non-invasive prenatal diagnosis of β-thalassaemia.

Journal: PloS one

Published: March 14, 2018

The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study.

The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study.

Journal: Scientific reports

Published: January 08, 2016

Prevalence of RhD status and clinical application of non-invasive prenatal determination of fetal RHD in maternal plasma: a 5 year experience in Cyprus.

Prevalence of RhD status and clinical application of non-invasive prenatal determination of fetal RHD in maternal plasma: a 5 year experience in Cyprus.

Journal: BMC research notes

Published: August 18, 2015

A minimal set of SNPs for the noninvasive prenatal diagnosis of β-thalassaemia.

A minimal set of SNPs for the noninvasive prenatal diagnosis of β-thalassaemia.

Journal: Annals of human genetics

Published: July 07, 2012

Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia.

Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia.

Journal: European journal of human genetics : EJHG

Published: June 13, 2012

Arrayed primer extension for the noninvasive prenatal diagnosis of beta-thalassemia based on detection of single nucleotide polymorphisms.

Arrayed primer extension for the noninvasive prenatal diagnosis of beta-thalassemia based on detection of single nucleotide polymorphisms.

Journal: Annals of the New York Academy of Sciences

Published: October 08, 2008

Showing 1-12 of 13

Last Updated: 09/26/2026