Jan Traeger-Synodinos at National and Kapodistrian University of Athens - Faculty of Medicine - Research Interests, Publications & Academic Profile

Jan Traeger-Synodinos

Professor (currently)

National and Kapodistrian University of Athens - Faculty of Medicine

Greece

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Research Interests

Biostatistics

90%

Biochemistry

40%

Medical Science

100%

Rare Disease

70%

Exome Sequencing

50%

Genomic

40%

Assisted Reproductive Technology

30%

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Recent Grants

Grant: Close

Introducing diagnostic applications of ‘3Gb-testing’ in human genetics

Open Date: 2013-09-01

Close Date: 2015-08-01

Articles16

A TMEM63A Nonsense Heterozygous Variant Linked to Infantile Transient Hypomyelinating Leukodystrophy Type 19?

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Year:

2024

Impact of α-Globin Gene Expression and α-Globin Modifiers on the Phenotype of β-Thalassemia and Other Hemoglobinopathies: Implications for Patient Management

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Year:

2024

The current clinical applications of preimplantation genetic testing (PGT): acknowledging the limitations of biology and technology

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Year:

2024

Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature

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Year:

2024

SCN1A Channels a Wide Range of Epileptic Phenotypes: Report of Novel and Known Variants with Variable Presentations

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Year:

2024

Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children

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Year:

2024

Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia

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Year:

2024

Identification of a Novel IQCE Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7

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Year:

2023

Screening for the FMR1 premutation in Greek patients with late-onset movement disorders

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Year:

2023

Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases

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Year:

2023

Contributing to the on-going debate around the clinical application of preimplantation embryo selection based on polygenic risk scores (PGT-P)

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Year:

2023

A Greek National Cross-Sectional Study on Myotonic Dystrophies

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Year:

2022

Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies

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Year:

2022

Hemoglobinopathies and preimplantation diagnostics

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Year:

2022

Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel

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Year:

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

Article Link

Year:

2021

Collaborators8

Roberto Gambari

Full Professor

University of Ferrara

ITALY

Georgios Koutsis

Associate Professor of Neurology and Neurogenetics

Ethniko kai Kapodistriako Panepistemio Athenon Iatrike Schole

GREECE

Christalena Sofocleous

National and Kapodistrian University of Athens

GREECE

Leonidas Stefanis

GREECE

Florentia Fostira

National Centre for Scientific Research-Demokritos

GREECE

George P. Chrousos

University Research Institute of Maternal and Child Health and Precision Medicine

GREECE

Vasilios Kimiskidis

Professor

Aristotle University of Thessaloniki

GREECE

Dimitrios Vlachakis

Researcher B - associate professor level

University Research Institute of Maternal and Child Health and Precision Medicine

GREECE

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