Damien Lederer

Charleroi, WAL 6041, Belgium

Last Updated: 09/26/2026

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Found 64 publications

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Journal: medRxiv : the preprint server for health sciences

Published: March 13, 2026

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Journal: medRxiv : the preprint server for health sciences

Published: March 13, 2026

Correction: GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy.

Correction: GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy.

Journal: Molecular psychiatry

Published: January 07, 2026

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants.

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants.

Journal: Epilepsia

Published: October 02, 2025

Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants.

Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants.

Journal: Neurology

Published: June 26, 2025

Video-EEG as a precision medicine tool in vitamin-dependent epilepsy: A clinical experience.

Video-EEG as a precision medicine tool in vitamin-dependent epilepsy: A clinical experience.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: May 05, 2025

Epilepsy phenotype and developmental outcome in girls with mosaicism in X-linked neurodevelopmental disorders.

Epilepsy phenotype and developmental outcome in girls with mosaicism in X-linked neurodevelopmental disorders.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: March 11, 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

Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.

Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.

Journal: American journal of human genetics

Published: February 11, 2025

GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy.

GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy.

Journal: Molecular psychiatry

Published: November 15, 2024

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

Journal: American journal of human genetics

Published: April 01, 2024

Natural history of adults with KBG syndrome: A physician-reported experience.

Natural history of adults with KBG syndrome: A physician-reported experience.

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

Published: January 31, 2024

Showing 1-12 of 64

Last Updated: 09/26/2026