Irina Huning

1Department Of Dermatology, Ratzeburger Allee 160
Luebeck, SH 23538, Germany

Last Updated: 09/26/2026

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Found 31 publications

Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Journal: European journal of human genetics : EJHG

Published: April 02, 2026

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

STAG2-truncating variants reveal a mosaic STAG2 inactivation pattern and compensatory mechanisms involving cohesin complex remodeling.

STAG2-truncating variants reveal a mosaic STAG2 inactivation pattern and compensatory mechanisms involving cohesin complex remodeling.

Journal: iScience

Published: February 06, 2025

Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.

Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.

Journal: Genome medicine

Published: December 20, 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

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Journal: European journal of human genetics : EJHG

Published: June 23, 2024

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Journal: European journal of human genetics : EJHG

Published: June 23, 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

Recommendations for the healthcare of patients with FOP

Recommendations for the healthcare of patients with FOP

Journal: Orthopadie (Heidelberg, Germany)

Published: July 10, 2023

De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.

De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.

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

Published: June 20, 2023

Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases.

Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases.

Journal: Orphanet journal of rare diseases

Published: May 16, 2023

Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.

Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.

Journal: American journal of human genetics

Published: January 13, 2023

Showing 1-12 of 31

Last Updated: 09/26/2026