Tzung-chien Hsieh

Bonn, NW, Germany

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 61 publications

Further characterization of the BRSK2-associated neurodevelopmental disorder.

Further characterization of the BRSK2-associated neurodevelopmental disorder.

Journal: European journal of human genetics : EJHG

Published: January 13, 2026

Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis.

Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis.

Journal: Research square

Published: January 08, 2026

Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET.

Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET.

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

Published: December 11, 2025

Comprehensive Assessment of the KDM2B-Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome.

Comprehensive Assessment of the KDM2B-Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome.

Journal: Clinical genetics

Published: November 28, 2025

Multimodal genotype-phenotype analysis in SMARCB1-associated developmental disorders.

Multimodal genotype-phenotype analysis in SMARCB1-associated developmental disorders.

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

Published: October 22, 2025

Multimodal Genotype-Phenotype Analysis in SMARCB1-Associated Developmental Disorders.

Multimodal Genotype-Phenotype Analysis in SMARCB1-Associated Developmental Disorders.

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

Published: October 22, 2025

Role of CAMK2D in neurodevelopment and associated conditions.

Role of CAMK2D in neurodevelopment and associated conditions.

Journal: American journal of human genetics

Published: August 12, 2025

Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder.

Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder.

Journal: The Journal of clinical investigation

Published: July 23, 2025

Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies.

Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies.

Journal: American journal of human genetics

Published: July 17, 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

Leveraging Next-Generation Phenotyping in Dysmorphology to Support Variant Interpretation in Mowat-Wilson Syndrome.

Leveraging Next-Generation Phenotyping in Dysmorphology to Support Variant Interpretation in Mowat-Wilson Syndrome.

Journal: Neurology. Genetics

Published: June 10, 2025

HYPK-Related Neurodevelopmental Syndrome: Case Report of Intellectual Disability, Developmental Delay, and Dysmorphic Features.

HYPK-Related Neurodevelopmental Syndrome: Case Report of Intellectual Disability, Developmental Delay, and Dysmorphic Features.

Journal: Clinical genetics

Published: May 14, 2025

Showing 1-12 of 61

Last Updated: 09/26/2026