Piotr Stawinski

Warsaw, MZ 02106, Poland

Last Updated: 09/26/2026

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Found 74 publications

Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.

Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.

Journal: Genes
Published: November 30, 2025

Rubinstein-Taybi Syndrome: A Comprehensive Analysis of a Polish Cohort with Most Cases Due to Novel CREBBP and EP300 Variants.

Rubinstein-Taybi Syndrome: A Comprehensive Analysis of a Polish Cohort with Most Cases Due to Novel CREBBP and EP300 Variants.

Journal: Genes
Published: August 20, 2025

Genetic architecture of dilated cardiomyopathy in Poland: variant distribution, clinical characteristics, and prognosis.

Genetic architecture of dilated cardiomyopathy in Poland: variant distribution, clinical characteristics, and prognosis.

Journal: Polish archives of internal medicine
Published: August 12, 2025

Ataxia and oculomotor apraxia caused by a large-scale deletion in the senataxin gene.

Ataxia and oculomotor apraxia caused by a large-scale deletion in the senataxin gene.

Journal: Journal of applied genetics
Published: May 21, 2025

Molecular Review of Suspected Alport Syndrome Patients-A Single-Centre Experience.

Molecular Review of Suspected Alport Syndrome Patients-A Single-Centre Experience.

Journal: Genes
Published: December 27, 2024

Genebe.net: Implementation and validation of an automatic ACMG variant pathogenicity criteria assignment.

Genebe.net: Implementation and validation of an automatic ACMG variant pathogenicity criteria assignment.

Journal: Clinical genetics
Published: November 17, 2023

Clinical features, etiology, and survival in patients with restrictive cardiomyopathy: A single-center experience.

Clinical features, etiology, and survival in patients with restrictive cardiomyopathy: A single-center experience.

Journal: Kardiologia polska
Published: October 17, 2023

Cardiovascular involvement and prognosis in Loeys-Dietz syndrome.

Cardiovascular involvement and prognosis in Loeys-Dietz syndrome.

Journal: Kardiologia polska
Published: September 12, 2023

Clinical heterogeneity of polish patients with KAT6B-related disorder.

Clinical heterogeneity of polish patients with KAT6B-related disorder.

Journal: Molecular genetics & genomic medicine
Published: March 29, 2023

Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients.

Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients.

Journal: Genes
Published: July 18, 2022

Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias.

Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias.

Journal: Genes
Published: July 11, 2022

Tracking Clonal Evolution of Multiple Myeloma Using Targeted Next-Generation DNA Sequencing.

Tracking Clonal Evolution of Multiple Myeloma Using Targeted Next-Generation DNA Sequencing.

Journal: Biomedicines
Published: June 11, 2022
Showing 1-12 of 74

Last Updated: 09/26/2026