Katalin Szakszon

Debrecen, HB, Hungary

Last Updated: 09/26/2026

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Found 35 publications

Severe neonatal epilepsy linked to a novel homozygous SLC12A5 Arg508Cys variant with impaired chloride transport.

Severe neonatal epilepsy linked to a novel homozygous SLC12A5 Arg508Cys variant with impaired chloride transport.

Journal: Experimental neurology

Published: March 05, 2026

A comprehensive framework for the interpretation of TTN missense variants.

A comprehensive framework for the interpretation of TTN missense variants.

Journal: Genome medicine

Published: July 17, 2025

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci.

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci.

Journal: European journal of human genetics : EJHG

Published: March 04, 2025

International Clinical Evidence-based Guideline for Kleefstra Syndrome.

International Clinical Evidence-based Guideline for Kleefstra Syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: February 14, 2025

International clinical evidence-based guideline for Kleefstra syndrome.

International clinical evidence-based guideline for Kleefstra syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: February 14, 2025

Priority-setting criteria for clinical practice guideline development on rare genetic neurodevelopmental disorders: a Delphi study within the European Reference Network ITHACA.

Priority-setting criteria for clinical practice guideline development on rare genetic neurodevelopmental disorders: a Delphi study within the European Reference Network ITHACA.

Journal: Journal of clinical epidemiology

Published: August 08, 2024

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

Journal: American journal of human genetics

Published: July 24, 2024

Genetic counselling legislation and practice in cancer in EU Member States.

Genetic counselling legislation and practice in cancer in EU Member States.

Journal: European journal of public health

Published: June 21, 2024

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.

Journal: HGG advances

Published: November 13, 2023

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.

Journal: Journal of medical genetics

Published: June 01, 2023

Chromosomal breakage tests in the differential diagnosis of Fanconi anemia and aplastic anemia.

Chromosomal breakage tests in the differential diagnosis of Fanconi anemia and aplastic anemia.

Journal: European journal of haematology

Published: December 10, 2022

Helsmoortel-Van der Aa Syndrome-Cardiothoracic and Ectodermal Manifestations in Two Patients as Further Support of a Previous Observation on Phenotypic Overlap with RASopathies.

Helsmoortel-Van der Aa Syndrome-Cardiothoracic and Ectodermal Manifestations in Two Patients as Further Support of a Previous Observation on Phenotypic Overlap with RASopathies.

Journal: Genes

Published: November 20, 2022

Showing 1-12 of 35

Last Updated: 09/26/2026