Dominik S. Westphal

Ismaninger Str. 22
Munich, BY 81675, Germany

Last Updated: 09/26/2026

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Found 47 publications

Medizinisch-genetische Patient*innenversorgung in den sechs Zentren für Medizinische Genetik.

Medizinisch-genetische Patient*innenversorgung in den sechs Zentren für Medizinische Genetik.

Journal: Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V

Published: July 08, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: American journal of human genetics

Published: February 15, 2026

Brugada Syndrome in the Pediatric Population: Diagnostic Challenges and Clinical Outcome-Results of the German Multicenter Study COGIA.

Brugada Syndrome in the Pediatric Population: Diagnostic Challenges and Clinical Outcome-Results of the German Multicenter Study COGIA.

Journal: Journal of cardiovascular electrophysiology

Published: February 08, 2026

Magnetocardiography to screen adults with arrhythmogenic cardiomyopathy: A feasibility study.

Magnetocardiography to screen adults with arrhythmogenic cardiomyopathy: A feasibility study.

Journal: American heart journal plus : cardiology research and practice

Published: January 19, 2026

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 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

Systematic reassessment of reported variants in individuals with suspicion of Alport spectrum disorder reveals a high rate of ambiguous results.

Systematic reassessment of reported variants in individuals with suspicion of Alport spectrum disorder reveals a high rate of ambiguous results.

Journal: European journal of human genetics : EJHG

Published: June 19, 2025

Apremilast improves cardiomyocyte cohesion and arrhythmia in different models for arrhythmogenic cardiomyopathy.

Apremilast improves cardiomyocyte cohesion and arrhythmia in different models for arrhythmogenic cardiomyopathy.

Journal: Stem cell research & therapy

Published: May 28, 2025

Cardiac involvement in female elite athletes with carrier status of Duchenne muscular dystrophy.

Cardiac involvement in female elite athletes with carrier status of Duchenne muscular dystrophy.

Journal: Frontiers in cardiovascular medicine

Published: April 06, 2025

Showing 1-12 of 47

Last Updated: 09/26/2026