Britta Hanker

Ratzeburger Allee 160
Luebeck, SH 23538, Germany

Last Updated: 09/26/2026

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Found 12 publications

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

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

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

Episignature analysis of moderate effects and mosaics.

Episignature analysis of moderate effects and mosaics.

Journal: European journal of human genetics : EJHG

Published: January 30, 2023

Phenotypic specificity in patients with neurodevelopmental delay does not correlate with diagnostic yield of trio-exome sequencing.

Phenotypic specificity in patients with neurodevelopmental delay does not correlate with diagnostic yield of trio-exome sequencing.

Journal: European journal of medical genetics

Published: October 24, 2022

Progressive Respiratory Insufficiency in a Teenager with Diaphragmatic Hypomotility Due to a Novel Combination of Gliomedin Gene Variants.

Progressive Respiratory Insufficiency in a Teenager with Diaphragmatic Hypomotility Due to a Novel Combination of Gliomedin Gene Variants.

Journal: Children (Basel, Switzerland)

Published: April 13, 2022

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.

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

Published: January 30, 2022

ANKRD11 variants: KBG syndrome and beyond.

ANKRD11 variants: KBG syndrome and beyond.

Journal: Clinical genetics

Published: March 26, 2021

Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.

Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.

Journal: Parkinsonism & related disorders

Published: May 04, 2020

Maternal transmission of a mild Coffin-Siris syndrome phenotype caused by a SOX11 missense variant.

Maternal transmission of a mild Coffin-Siris syndrome phenotype caused by a SOX11 missense variant.

Journal: European journal of human genetics : EJHG

Published: April 16, 2020

Genotype-phenotype correlation on 45 individuals with West syndrome.

Genotype-phenotype correlation on 45 individuals with West syndrome.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: July 12, 2019

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Last Updated: 09/26/2026