Jasmin Beygo

Essen, NW, Germany

Last Updated: 09/26/2026

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Found 47 publications

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: May 18, 2026

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.

Journal: medRxiv : the preprint server for health sciences

Published: December 03, 2025

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

Journal: Nature communications

Published: October 17, 2025

MYCN Amplification in RB1-Inactivated Retinoblastoma: Association With High-Risk Features.

MYCN Amplification in RB1-Inactivated Retinoblastoma: Association With High-Risk Features.

Journal: Pediatric blood & cancer

Published: October 14, 2025

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: August 18, 2025

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: August 18, 2025

No indications of weight gain associated DNA methylation changes in patients with anorexia nervosa.

No indications of weight gain associated DNA methylation changes in patients with anorexia nervosa.

Journal: Scientific reports

Published: January 09, 2025

Lipid and protein imbalances in muscle of a FAR1-patient with a heterozygous de novo variant.

Lipid and protein imbalances in muscle of a FAR1-patient with a heterozygous de novo variant.

Journal: Journal of neuropathology and experimental neurology

Published: July 29, 2024

An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype.

An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype.

Journal: Frontiers in genetics

Published: July 29, 2024

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.

Journal: Clinical epigenetics

Published: April 25, 2024

Prenatal testing for imprinting disorders: A laboratory perspective.

Prenatal testing for imprinting disorders: A laboratory perspective.

Journal: Prenatal diagnosis

Published: February 06, 2023

FGF9-Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational Family.

FGF9-Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational Family.

Journal: Genes

Published: February 03, 2023

Showing 1-12 of 47

Last Updated: 09/26/2026