Elisabeth Mangold

Sigmund Freud Str. 25
Bonn, NW 53127, Germany

Last Updated: 09/26/2026

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Found 109 publications

Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease.

Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease.

Journal: EMBO molecular medicine

Published: April 25, 2026

Evidence that disruption of Discoidin domain receptor 2 contributes to palate malformations through effects on the extracellular matrix.

Evidence that disruption of Discoidin domain receptor 2 contributes to palate malformations through effects on the extracellular matrix.

Journal: Human molecular genetics

Published: November 20, 2025

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Journal: Nature genetics

Published: June 24, 2025

Genetic heterogeneity and homogeneity among orofacial cleft subtypes: genome-wide association studies in the cleft collective.

Genetic heterogeneity and homogeneity among orofacial cleft subtypes: genome-wide association studies in the cleft collective.

Journal: Human molecular genetics

Published: April 09, 2025

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Journal: Nature communications

Published: March 31, 2025

KLHL13 functional defects cause neurodevelopmental disorder in humans that can be rescued via inhibition of AURKB in cellular and animal models.

KLHL13 functional defects cause neurodevelopmental disorder in humans that can be rescued via inhibition of AURKB in cellular and animal models.

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

Published: March 07, 2025

A non-syndromic orofacial cleft risk locus links tRNA splicing defects to neural crest cell pathologies.

A non-syndromic orofacial cleft risk locus links tRNA splicing defects to neural crest cell pathologies.

Journal: American journal of human genetics

Published: March 03, 2025

Combining genetic and single-cell expression data reveals cell types and novel candidate genes for orofacial clefting.

Combining genetic and single-cell expression data reveals cell types and novel candidate genes for orofacial clefting.

Journal: Scientific reports

Published: August 22, 2024

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Journal: American journal of human genetics

Published: May 09, 2024

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Journal: American journal of human genetics

Published: March 20, 2024

Role of ZFHX4 in orofacial clefting based on human genetic data and zebrafish models.

Role of ZFHX4 in orofacial clefting based on human genetic data and zebrafish models.

Journal: European journal of human genetics : EJHG

Published: March 11, 2024

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Journal: Nature genetics

Published: July 19, 2023

Showing 1-12 of 109

Last Updated: 09/26/2026