Pavel Votypka

Prague, PR, Czech Republic

Last Updated: 09/26/2026

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Found 12 publications

The Long-Term Clinical Progression of Genotype-Positive/Phenotype-Negative Patients With Hypertrophic Cardiomyopathy.

The Long-Term Clinical Progression of Genotype-Positive/Phenotype-Negative Patients With Hypertrophic Cardiomyopathy.

Journal: The American journal of cardiology

Published: January 12, 2026

Genetic yield of targeted diagnostic screening in a large European cohort of 368 thoracic aortic dissection patients.

Genetic yield of targeted diagnostic screening in a large European cohort of 368 thoracic aortic dissection patients.

Journal: European journal of human genetics : EJHG

Published: December 10, 2025

Genetic Landscape of Amyotrophic Lateral Sclerosis in Czech Patients.

Genetic Landscape of Amyotrophic Lateral Sclerosis in Czech Patients.

Journal: Journal of neuromuscular diseases

Published: July 26, 2024

Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.

Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.

Journal: Journal of the American Heart Association

Published: May 17, 2024

The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood.

The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood.

Journal: Frontiers in medicine

Published: October 11, 2023

Case report: Two heterozygous pathogenic variants of CYP24A1: A novel cause of hypercalcemia and nephrocalcinosis in adulthood.

Case report: Two heterozygous pathogenic variants of CYP24A1: A novel cause of hypercalcemia and nephrocalcinosis in adulthood.

Journal: Frontiers in medicine

Published: August 15, 2022

Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk: lessons learned from a Czech pilot multidisciplinary study.

Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk: lessons learned from a Czech pilot multidisciplinary study.

Journal: International journal of legal medicine

Published: June 29, 2022

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.

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

Published: March 14, 2022

Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants.

Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants.

Journal: Human mutation

Published: January 24, 2022

Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings.

Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings.

Journal: International journal of molecular sciences

Published: June 04, 2021

Patients with hypertrophic obstructive cardiomyopathy after alcohol septal ablation have favorable long-term outcome irrespective of their genetic background.

Patients with hypertrophic obstructive cardiomyopathy after alcohol septal ablation have favorable long-term outcome irrespective of their genetic background.

Journal: Cardiovascular diagnosis and therapy

Published: May 19, 2020

Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.

Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.

Journal: Annals of human genetics

Published: December 31, 2019

Showing 1-12 of 12

Last Updated: 09/26/2026