Ploski R at Department of Medical Genetics Medical University of Warsaw Warsaw Poland - Research Interests, Publications & Academic Profile

Ploski R

University Name

Poland

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Research Interests

Neurology

50%

Virology

40%

Medical Science

100%

Rare Disease

70%

Neurodevelopmental Disorders

60%

Genomic

30%

Birth Defect

30%

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Articles20

Neurodevelopmental disorder in a patient with <scp>HMBS</scp> and <scp>SCN3A</scp> variants—A possibly blended phenotype further delineating autosomal recessive <scp>HMBS</scp> related disease

Article Link

Year:

2024

Troponin T Assessment Allows for Identification of Mutation Carriers among Young Relatives of Patients with LMNA-Related Dilated Cardiomyopathy

Article Link

Year:

2024

A novel non-recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia

Article Link

Year:

2024

A Rare De Novo Mutation in the TRIM8 Gene in a 17-Year-Old Boy with Steroid-Resistant Nephrotic Syndrome: Case Report

Article Link

Year:

2024

Leukodystrophy with Macrocephaly, Refractory Epilepsy, and Severe Hyponatremia—The Neonatal Type of Alexander Disease

Article Link

Year:

2024

Effects of maternal type 1 diabetes and confounding factors on neonatal microbiomes

Article Link

Year:

2024

The epilepsy phenotype of KCNK4-related neurodevelopmental disease

Article Link

Year:

2024

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

Article Link

Year:

2024

An Intronic Heterozygous SYNE2 Splice Site Mutation: A Rare Cause for Myalgia and hyperCKemia?

Article Link

Year:

2024

Further Delineation of Clinical Phenotype of ZMYND11 Variants in Patients with Neurodevelopmental Dysmorphic Syndrome

Article Link

Year:

2024

Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients

Article Link

Year:

2023

Identification of a new familial case of 3q29 deletion syndrome associated with cleft lip and palate via whole‐exome sequencing

Article Link

Year:

2023

Allogenic Adipose-Derived Stem Cells in Diabetic Foot Ulcer Treatment: Clinical Effectiveness, Safety, Survival in the Wound Site, and Proteomic Impact

Article Link

Year:

2023

Non-allergic eye rubbing is a major behavioral risk factor for keratoconus

Article Link

Year:

2023

DCDC2-Related Ciliopathy: Report of Six Polish Patients, Novel DCDC2 Variant, and Literature Review of Reported Cases

Article Link

Year:

2023

Good performance of the criteria of American College of Medical Genetics and Genomics/Association for Molecular Pathology in prediction of pathogenicity of genetic variants causing thoracic aortic aneurysms and dissections

Article Link

Year:

2022

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

Article Link

Year:

2022

Identification of novel susceptibility genes for non-syndromic cleft lip with or without cleft palate using NGS-based multigene panel testing

Article Link

Year:

2022

Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients

Article Link

Year:

2022

Genetic diversity in Kashubs: the regional increase in the frequency of several disease-causing variants

Article Link

Year:

2022

Collaborators33

Patryk Lipinski

Children's Memorial Health Institute

POLAND

Justyna Paprocka

Medical University of Silesia

POLAND

Szymon Ziętkiewicz

University of Gdańsk

POLAND

Barbara Steinborn

Prof.

Poznan University of Medical Sciences

POLAND

Beata Mrozikiewicz-Rakowska

Senior Lecturer

Medical University of Warsaw

POLAND

Zofia Bilinska

Head

Institute of Cardiology

POLAND

Justyna Karolak

Poznan University of Medical Sciences

POLAND

Ewa Mojs

POLAND

Leszek Czupryniak

Medical University of Warsaw

POLAND

Aleksandra Jezela-Stanek

National Tuberculosis and Lung Diseases Research Institute

POLAND

Dorota Kamińska

Poznan University of Medical Sciences

POLAND

Przemysław Chmielewski

National Institute of Cardiology

POLAND

Katarzyna Jaskiewicz-Rajewicz

Institute of Human Genetics Polish Academy of Sciences

POLAND

Tomasz Szczapa

Poznan University of Medical Sciences

POLAND

Pawel Matusik

Associated Professor

Medical University of Silesia School of Medicine in Katowice

POLAND

Adrianna Mostowska

Poznan University of Medical Sciences

POLAND

Łukasz Kępczyński

assistant professor

Polish Mother’s Memorial Hospital Research Institute

POLAND

Elżbieta Ciara

PhD; Head of the Molecular Genetics Lab

Children's Memorial Health Institute

POLAND

Jennifer G. Mulle

Emory University School of Medicine

UNITED STATES

Marzena Gajecka

Professor, Head of the Chair and Department

Uniwersytet Medyczny imienia Karola Marcinkowskiego w Poznaniu

POLAND

Karolina Rutkowska

Medical University of Warsaw

POLAND

Elzbieta Jurkiewicz

Children's Memorial Health Institute

POLAND

Robert Smigiel

prof.

Wroclaw Medical University

POLAND

Maria Mazurkiewicz-Bełdzińska

Medical University of Gdansk

POLAND

ILONA SZABŁOWSKA-GADOMSKA

Medical University of Warsaw

POLAND

Ewa Zietkiewicz

professor

Institute of Human Genetics

POLAND

Dominik Cysewski

Medical University of Białystok

POLAND

Magdalena Machnikowska-Sokołowska

MD, PhD, ass., Head of Magnetic Resonance Department

Medical University of Silesia

POLAND

Justyna Dąbrowska

Poznan University of Medical Sciences

POLAND

Malgorzata Lewandowska-Szumiel

Medical University of Warsaw

POLAND

Anna Kutkowska-Kaźmierczak

Instytut Matki i Dziecka

POLAND

Malgorzata Pac

Head od department of immunology

Instytut Pomnik -Centrum Zdrowia Dziecka

POLAND

Maria Szczepanska

Prof.

Medical University of Silesia Faculty of Medical Sciences in Zabrze

POLAND

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Ploski R

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Research Interests

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Articles20

Neurodevelopmental disorder in a patient with <scp><i>HMBS</i></scp> and <scp><i>SCN3A</i></scp> variants—A possibly blended phenotype further delineating autosomal recessive <scp><i>HMBS</i></scp> related disease

Troponin T Assessment Allows for Identification of Mutation Carriers among Young Relatives of Patients with LMNA-Related Dilated Cardiomyopathy

A novel non-recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia

A Rare De Novo Mutation in the <i>TRIM8</i> Gene in a 17-Year-Old Boy with Steroid-Resistant Nephrotic Syndrome: Case Report

Leukodystrophy with Macrocephaly, Refractory Epilepsy, and Severe Hyponatremia—The Neonatal Type of Alexander Disease

Effects of maternal type 1 diabetes and confounding factors on neonatal microbiomes

The epilepsy phenotype of KCNK4-related neurodevelopmental disease

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

An Intronic Heterozygous SYNE2 Splice Site Mutation: A Rare Cause for Myalgia and hyperCKemia?

Further Delineation of Clinical Phenotype of ZMYND11 Variants in Patients with Neurodevelopmental Dysmorphic Syndrome

Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients

Identification of a new familial case of 3q29 deletion syndrome associated with cleft lip and palate via whole‐exome sequencing

Allogenic Adipose-Derived Stem Cells in Diabetic Foot Ulcer Treatment: Clinical Effectiveness, Safety, Survival in the Wound Site, and Proteomic Impact

Non-allergic eye rubbing is a major behavioral risk factor for keratoconus

DCDC2-Related Ciliopathy: Report of Six Polish Patients, Novel DCDC2 Variant, and Literature Review of Reported Cases

Good performance of the criteria of American College of Medical Genetics and Genomics/Association for Molecular Pathology in prediction of pathogenicity of genetic variants causing thoracic aortic aneurysms and dissections

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 novel susceptibility genes for non-syndromic cleft lip with or without cleft palate using NGS-based multigene panel testing

Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients

Genetic diversity in Kashubs: the regional increase in the frequency of several disease-causing variants

Collaborators33

Patryk Lipinski

Justyna Paprocka

Szymon Ziętkiewicz

Barbara Steinborn

Beata Mrozikiewicz-Rakowska

Zofia Bilinska

Justyna Karolak

Ewa Mojs

Leszek Czupryniak

Aleksandra Jezela-Stanek

Dorota Kamińska

Przemysław Chmielewski

Katarzyna Jaskiewicz-Rajewicz

Tomasz Szczapa

Pawel Matusik

Adrianna Mostowska

Łukasz Kępczyński

Elżbieta Ciara

Jennifer G. Mulle

Marzena Gajecka

Karolina Rutkowska

Elzbieta Jurkiewicz

Robert Smigiel

Maria Mazurkiewicz-Bełdzińska

ILONA SZABŁOWSKA-GADOMSKA

Ewa Zietkiewicz

Dominik Cysewski

Magdalena Machnikowska-Sokołowska

Justyna Dąbrowska

Malgorzata Lewandowska-Szumiel

Anna Kutkowska-Kaźmierczak

Malgorzata Pac

Maria Szczepanska

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