Jan Synodinos-Traeger

Athens, ESYE31 11527, Greece

Last Updated: 09/26/2026

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Found 19 publications

Mapping Current and Emerging Laboratory Techniques for Haemoglobinopathy Carrier Detection and Prevention: A Narrative Review from the HELIOS Action.

Mapping Current and Emerging Laboratory Techniques for Haemoglobinopathy Carrier Detection and Prevention: A Narrative Review from the HELIOS Action.

Journal: International journal of molecular sciences

Published: March 06, 2026

HELIOS Action: Advancing research, education, and equity in hemoglobinopathies across Europe and beyond.

HELIOS Action: Advancing research, education, and equity in hemoglobinopathies across Europe and beyond.

Journal: HemaSphere

Published: September 23, 2025

Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling.

Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling.

Journal: medRxiv : the preprint server for health sciences

Published: July 15, 2024

Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling.

Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling.

Journal: American journal of human genetics

Published: July 10, 2024

Twelve years of assessing the quality of preimplantation genetic testing for monogenic disorders.

Twelve years of assessing the quality of preimplantation genetic testing for monogenic disorders.

Journal: Prenatal diagnosis

Published: September 08, 2022

A Novel εγδβ-Thalassemia Deletion Associated with Severe Anemia at Birth and a β-Thalassemia Intermedia Phenotype Later in Life in Three Generations of a Greek Family.

A Novel εγδβ-Thalassemia Deletion Associated with Severe Anemia at Birth and a β-Thalassemia Intermedia Phenotype Later in Life in Three Generations of a Greek Family.

Journal: Hemoglobin

Published: December 13, 2019

ATR-16 syndrome: mechanisms linking monosomy to phenotype.

ATR-16 syndrome: mechanisms linking monosomy to phenotype.

Journal: Journal of medical genetics

Published: August 28, 2019

Critical points for an accurate human genome analysis.

Critical points for an accurate human genome analysis.

Journal: Human mutation

Published: September 12, 2016

Multi-allele DNA biosensor for the rapid genotyping of 'nondeletion' alpha thalassaemia mutations in HBA1 and HBA2 genes by means of multiplex primer extension reaction.

Multi-allele DNA biosensor for the rapid genotyping of 'nondeletion' alpha thalassaemia mutations in HBA1 and HBA2 genes by means of multiplex primer extension reaction.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: February 06, 2015

Screening non-deletion α-thalassaemia mutations in the HBA1 and HBA2 genes by high-resolution melting analysis.

Screening non-deletion α-thalassaemia mutations in the HBA1 and HBA2 genes by high-resolution melting analysis.

Journal: Clinical chemistry and laboratory medicine

Published: January 23, 2015

Hb Souli, a 6 bp in-frame deletion on the HBA2 gene (HBA2: c.[41-46delCCTGGG]) leads to α-thalassemia intermedia, when in trans to a single α-globin gene deletion.

Hb Souli, a 6 bp in-frame deletion on the HBA2 gene (HBA2: c.[41-46delCCTGGG]) leads to α-thalassemia intermedia, when in trans to a single α-globin gene deletion.

Journal: Hemoglobin

Published: December 06, 2014

A simplified approach for FSHD molecular testing.

A simplified approach for FSHD molecular testing.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: November 08, 2013

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Last Updated: 09/26/2026