P. Votýpka

发表

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

M. Turnovec, Miroslava Balaščáková, J. Čopíková, 2020, Annals of human genetics.

(Complex approach towards patients with hypertrophic cardiomyopathy and indications to genetic testing)

J. Kautzner, M. Macek, J. Veselka, 2020 .

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

N. Samani, T. Webb, M. Kempers, 2021, International journal of molecular sciences.

(Diagnosis of laminopathy with predominant cardiac involvement during pretransplant assessment - a case report with a review of risk stratification and disease management of laminopathies)

J. Kautzner, V. Melenovský, M. Macek, 2022, Cor et Vasa.

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

M. Macek, J. Veselka, J. Bonaventura, 2020, Cardiovascular diagnosis and therapy.

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

M. Macek, B. Loeys, A. Van Berendoncks, 2022, Human mutation.

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

L. Brunerová, P. Votýpka, Veronika Zoubková, 2023, Frontiers in Medicine.

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

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

J. Kautzner, P. Tomášek, Jakub Stocek, 2023, International Journal of Legal Medicine.

(Postmortem genetic testing in sudden cardiac death victims and genetic screening of relatives at risk in the Czech Republic)

J. Kautzner, P. Tomášek, M. Kulvajtová, 2023, Cor et Vasa.

(Czech Association for Preventive Cardiology Expert Consensus Statement on the State of Genetic Testing for Inherited Cardiovascular Diseases)

I. Grochová, P. Votýpka, P. Peldová, 2023, Cor et Vasa.

Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy

M. Maron, E. Rowin, J. Bonaventura, 2024, Journal of the American Heart Association.