Ploski Rafal (Rafal Ploski, Ploski R, Rafal Płoski, R Płoski, Rafał Płoski, Rafał Ploski)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 100

Top Venues

Genes

Clinical genetics

American journal of medical genetics. Part A

International journal of molecular sciences

Warsaw Medical University

Oslo universitetssykehus Rikshospitalet (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Warsaw Medical University

Poland

Head :: Department of Medical Genetics

Education History

Oslo universitetssykehus Rikshospitalet

Norway

PHD

Publications

Justyna Paprocka, Magdalena Nowak, Magdalena Machnikowska-Sokołowska, Karolina Rutkowska, Ploski Rafal
Leukodystrophy with Macrocephaly, Refractory Epilepsy, and Severe Hyponatremia-The Neonatal Type of Alexander Disease. Genes 15 (3) (2024)
Klaniewska Magdalena, Rydzanicz M, Bladowska J, Borys-Iwanicka A, Iwanicka-Pronicka K, Wasilewski R, Odnoczko E, Zubkiewicz-Kucharska A, Smigiel R, Ploski Rafal
Neurodevelopmental disorder in a patient with HMBS and SCN3A variants-A possibly blended phenotype further delineating autosomal recessive HMBS related disease. American journal of medical genetics. Part A 194 (8) (2024)
Przemysław Chmielewski, Ilona Kowalik, Grażyna T Truszkowska, Ewa Michalak, Joanna Kinga Ponińska, Agnieszka Sadowska, Katarzyna Kalin, Krzysztof Jaworski, Ilona Minota, Jolanta Krzysztoń-Russjan, Tomasz Zieliński, Ploski Rafal, Zofia Teresa Bilińska
Troponin T Assessment Allows for Identification of Mutation Carriers among Young Relatives of Patients with LMNA -Related Dilated Cardiomyopathy. Journal of clinical medicine 13 (11) (2024)
Justyna Frasunska, Agnieszka Pollak, Pawel Turczyn, Anna Kutkowska-Kaźmierczak, Jakub Pepłowski, Ploski Rafal, Beata Tarnacka
A Study of Polish Family with Scoliosis and Limb Contractures Expands the MYH3 Disease Spectrum. Genes 15 (1) (2024)
Justyna Paprocka, Magdalena Nowak, Magdalena Machnikowska-Sokołowska, Karolina Rutkowska, Ploski Rafal
Leukodystrophy with Macrocephaly, Refractory Epilepsy, and Severe Hyponatremia-The Neonatal Type of Alexander Disease. Genes 15 (3) (2024)
Marta Badeńska, Małgorzata Pac, Andrzej Badeński, Karolina Rutkowska, Justyna Czubilińska-Łada, Ploski Rafal, Nadezda Bohynikova, Jakub Gamrot
A Rare De Novo Mutation in the TRIM8 Gene in a 17-Year-Old Boy with Steroid-Resistant Nephrotic Syndrome: Case Report. International journal of molecular sciences 25 (8) (2024)
Aleksandra Bodetko, Joanna Chrzanowska, Malgorzata Rydzanicz, Agnieszka Borys-Iwanicka, Paweł Karpiński, Joanna Bladowska, Ploski Rafal, Smigiel Robert
Further Delineation of Clinical Phenotype of ZMYND11 Variants in Patients with Neurodevelopmental Dysmorphic Syndrome. Genes 15 (2) (2024)
Justyna Frasunska, Agnieszka Pollak, Pawel Turczyn, Anna Kutkowska-Kaźmierczak, Jakub Pepłowski, Ploski Rafal, Beata Tarnacka
A Study of Polish Family with Scoliosis and Limb Contractures Expands the MYH3 Disease Spectrum. Genes 15 (1) (2024)
Justyna Paprocka, Magdalena Nowak, Magdalena Machnikowska-Sokołowska, Karolina Rutkowska, Ploski Rafal
Leukodystrophy with Macrocephaly, Refractory Epilepsy, and Severe Hyponatremia-The Neonatal Type of Alexander Disease. Genes 15 (3) (2024)
Piotr Stawiński, Ploski Rafal
Genebe.net: Implementation and validation of an automatic ACMG variant pathogenicity criteria assignment. Clinical genetics 106 (2) (2024)
Justyna Paprocka, Magdalena Nowak, Magdalena Machnikowska-Sokołowska, Karolina Rutkowska, Ploski Rafal
Leukodystrophy with Macrocephaly, Refractory Epilepsy, and Severe Hyponatremia-The Neonatal Type of Alexander Disease. Genes 15 (3) (2024)
Piotr Stawiński, Ploski Rafal
Genebe.net: Implementation and validation of an automatic ACMG variant pathogenicity criteria assignment. Clinical genetics (2024)
Klaniewska Magdalena, Rydzanicz M, Bladowska J, Borys-Iwanicka A, Iwanicka-Pronicka K, Wasilewski R, Odnoczko E, Zubkiewicz-Kucharska A, Smigiel R, Ploski Rafal
Neurodevelopmental disorder in a patient with HMBS and SCN3A variants-A possibly blended phenotype further delineating autosomal recessive HMBS related disease. American journal of medical genetics. Part A (2024)
Justyna Frasunska, Agnieszka Pollak, Pawel Turczyn, Anna Kutkowska-Kaźmierczak, Jakub Pepłowski, Ploski Rafal, Beata Tarnacka
A Study of Polish Family with Scoliosis and Limb Contractures Expands the MYH3 Disease Spectrum. Genes 15 (1) (2024)
Marta Badeńska, Małgorzata Pac, Andrzej Badeński, Karolina Rutkowska, Justyna Czubilińska-Łada, Ploski Rafal, Nadezda Bohynikova, Jakub Gamrot
A Rare De Novo Mutation in the TRIM8 Gene in a 17-Year-Old Boy with Steroid-Resistant Nephrotic Syndrome: Case Report. International journal of molecular sciences 25 (8) (2024)
Aleksandra Bodetko, Joanna Chrzanowska, Malgorzata Rydzanicz, Agnieszka Borys-Iwanicka, Paweł Karpiński, Joanna Bladowska, Ploski Rafal, Smigiel Robert
Further Delineation of Clinical Phenotype of ZMYND11 Variants in Patients with Neurodevelopmental Dysmorphic Syndrome. Genes 15 (2) (2024)
Aleksandra Bodetko, Joanna Chrzanowska, Malgorzata Rydzanicz, Agnieszka Borys-Iwanicka, Paweł Karpiński, Joanna Bladowska, Ploski Rafal, Smigiel Robert
Further Delineation of Clinical Phenotype of ZMYND11 Variants in Patients with Neurodevelopmental Dysmorphic Syndrome. Genes 15 (2) (2024)
Aleksandra Bodetko, Joanna Chrzanowska, Malgorzata Rydzanicz, Agnieszka Borys-Iwanicka, Paweł Karpiński, Joanna Bladowska, Ploski Rafal, Smigiel Robert
Further Delineation of Clinical Phenotype of ZMYND11 Variants in Patients with Neurodevelopmental Dysmorphic Syndrome. Genes 15 (2) (2024)
Justyna Frasunska, Agnieszka Pollak, Pawel Turczyn, Anna Kutkowska-Kaźmierczak, Jakub Pepłowski, Ploski Rafal, Beata Tarnacka
A Study of Polish Family with Scoliosis and Limb Contractures Expands the MYH3 Disease Spectrum. Genes 15 (1) (2024)
Justyna Frasunska, Agnieszka Pollak, Pawel Turczyn, Anna Kutkowska-Kaźmierczak, Jakub Pepłowski, Ploski Rafal, Beata Tarnacka
A Study of Polish Family with Scoliosis and Limb Contractures Expands the MYH3 Disease Spectrum. Genes 15 (1) (2024)
Przemysław Chmielewski, Ilona Kowalik, Grażyna T Truszkowska, Ewa Michalak, Joanna Kinga Ponińska, Agnieszka Sadowska, Katarzyna Kalin, Krzysztof Jaworski, Ilona Minota, Jolanta Krzysztoń-Russjan, Tomasz Zieliński, Ploski Rafal, Zofia Teresa Bilińska
Troponin T Assessment Allows for Identification of Mutation Carriers among Young Relatives of Patients with LMNA -Related Dilated Cardiomyopathy. Journal of clinical medicine 13 (11) (2024)
Marta Badeńska, Małgorzata Pac, Andrzej Badeński, Karolina Rutkowska, Justyna Czubilińska-Łada, Ploski Rafal, Nadezda Bohynikova, Jakub Gamrot
A Rare De Novo Mutation in the TRIM8 Gene in a 17-Year-Old Boy with Steroid-Resistant Nephrotic Syndrome: Case Report. International journal of molecular sciences 25 (8) (2024)
Klaniewska Magdalena, Rydzanicz M, Bladowska J, Borys-Iwanicka A, Iwanicka-Pronicka K, Wasilewski R, Odnoczko E, Zubkiewicz-Kucharska A, Smigiel R, Ploski Rafal
Neurodevelopmental disorder in a patient with HMBS and SCN3A variants-A possibly blended phenotype further delineating autosomal recessive HMBS related disease. American journal of medical genetics. Part A 194 (8) (2024)
Klaniewska Magdalena, Rydzanicz M, Bladowska J, Borys-Iwanicka A, Iwanicka-Pronicka K, Wasilewski R, Odnoczko E, Zubkiewicz-Kucharska A, Smigiel R, Ploski Rafal
Neurodevelopmental disorder in a patient with HMBS and SCN3A variants-A possibly blended phenotype further delineating autosomal recessive HMBS related disease. American journal of medical genetics. Part A 194 (8) (2024)
Aleksandra Bodetko, Joanna Chrzanowska, Malgorzata Rydzanicz, Agnieszka Borys-Iwanicka, Paweł Karpiński, Joanna Bladowska, Ploski Rafal, Smigiel Robert
Further Delineation of Clinical Phenotype of ZMYND11 Variants in Patients with Neurodevelopmental Dysmorphic Syndrome. Genes 15 (2) (2024)
Beata Mrozikiewicz-Rakowska, Ilona Szabłowska-Gadomska, Dominik Cysewski, Stefan Rudziński, Ploski Rafal, Piotr Gasperowicz, Magdalena Konarzewska, Jakub Zielinski, Mateusz Mieczkowski, Damian Sieńko, Tomasz Grzela, Maria Noszczyk, Barbara Paleska, Leszek Czupryniak, Malgorzata Lewandowska-Szumiel
Allogenic Adipose-Derived Stem Cells in Diabetic Foot Ulcer Treatment: Clinical Effectiveness, Safety, Survival in the Wound Site, and Proteomic Impact. International journal of molecular sciences 24 (2) (2023)
Klaas Koop, Weimin Yuan, Federico Tessadori, Wilmer R Rodriguez-Polanco, Jeremy Grubbs, Bo Zhang, Matt Osmond, Gail Graham, Sarah Sawyer, Erin Conboy, Francesco Vetrini, Kayla Treat, Ploski Rafal, Victor Murcia Pienkowski, Anna Kłosowska, Elizabeth Fieg, Joel Krier, Coralie Mallebranche, Ziegler Alban, Kimberly A Aldinger, Deborah Ritter, Ellen Macnamara, Bonnie Sullivan, John Herriges, Joseph T Alaimo, Catherine Helbig, Colin A Ellis, Clare Eyk, Jozef Gecz, Daniel Farrugia, Ikeoluwa Osei-Owusu, Lesley Adès, Marie-Jose Boogaard, Sabine Fuchs, Jeroen Bakker, Karen Duran, Zachary D Dawson, Anika Lindsey, Huiyan Huang, Dustin Baldridge, Gary A Silverman, Barth D Grant, David Raizen, Undiagnosed Diseases Network, Gijs Haaften, Stephen C Pak, Holger Rehmann, Tim Schedl, Peter van Hasselt
Macrocephaly and developmental delay caused by missense variants in RAB5C. Human molecular genetics (2023)
Anna Kloska, Agata Gielczyk, Tomasz Grzybowski, Ploski Rafal, Sylwester Michal Kloska, Tomasz Marciniak, Krzysztof Pałczyński, Urszula Rogalla-Ładniak, Boris A Malyarchuk, Miroslava V Derenko, Nataša Kovačević-Grujičić, Milena J Stevanović, Danijela Drakulić, Slobodan Davidović, Magdalena Spólnicka, Magdalena Zubańska, Marcin Woźniak
A Machine-Learning-Based Approach to Prediction of Biogeographic Ancestry within Europe. International journal of molecular sciences 24 (20) (2023)
Beata Mrozikiewicz-Rakowska, Ilona Szabłowska-Gadomska, Dominik Cysewski, Stefan Rudziński, Ploski Rafal, Piotr Gasperowicz, Magdalena Konarzewska, Jakub Zielinski, Mateusz Mieczkowski, Damian Sieńko, Tomasz Grzela, Maria Noszczyk, Barbara Paleska, Leszek Czupryniak, Malgorzata Lewandowska-Szumiel
Allogenic Adipose-Derived Stem Cells in Diabetic Foot Ulcer Treatment: Clinical Effectiveness, Safety, Survival in the Wound Site, and Proteomic Impact. International journal of molecular sciences 24 (2) (2023)
Marzena Gajecka, Agnieszka Zawiejska, Katarzyna Jaskiewicz, Malgorzata Rydzanicz, Tomasz Szczapa, Dorota Kaminska, Grzegorz Kosewski, Juliusz Przysławski, Ploski Rafal, Pawel Gutaj
Effects of maternal type 1 diabetes and confounding factors on neonatal microbiomes. Diabetologia (2023)
Beata Mrozikiewicz-Rakowska, Ilona Szabłowska-Gadomska, Dominik Cysewski, Stefan Rudziński, Ploski Rafal, Piotr Gasperowicz, Magdalena Konarzewska, Jakub Zielinski, Mateusz Mieczkowski, Damian Sieńko, Tomasz Grzela, Maria Noszczyk, Barbara Paleska, Leszek Czupryniak, Malgorzata Lewandowska-Szumiel
Allogenic Adipose-Derived Stem Cells in Diabetic Foot Ulcer Treatment: Clinical Effectiveness, Safety, Survival in the Wound Site, and Proteomic Impact. International journal of molecular sciences 24 (2) (2023)
Justyna Paprocka, Aleksandra Jezela-Stanek, Smigiel Robert, Anna Walczak, Hanna Mierzewska, Anna Kutkowska-Kaźmierczak, Ploski Rafal, Ewa Emich-Widera, Barbara Steinborn
Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients. Genes 14 (5) (2023)
Joanna Kinga Ponińska, Weronika Pelczar-Płachta, Agnieszka Pollak, Katarzyna Jończyk-Potoczna, Grażyna Truszkowska, Ilona Michałowska, Emilia Szafran, Zofia Teresa Bilińska, Waldemar Bobkowski, Ploski Rafal
Double Heterozygous Pathogenic Variants in the LOX and PKD1 Genes in a 5-Year-Old Patient with Thoracic Aortic Aneurysm and Polycystic Kidney Disease. Genes 14 (11) (2023)
Klaniewska Magdalena, Bolanowska-Tyszko Anna, Latos-Bielenska Anna, Jezela-Stanek Aleksandra, Szczaluba Krzysztof, Krajewska-Walasek Malgorzata, Ciara Elzbieta, Pelc Magdalena, Jurkiewicz Dorota, Stawinski Piotr, Zubkiewicz-Kucharska Agnieszka, Rydzanicz Małgorzata, Ploski Rafal, Smigiel Robert
Clinical heterogeneity of polish patients with KAT6B-related disorder. Molecular genetics & genomic medicine (2023)
Beata Mrozikiewicz-Rakowska, Ilona Szabłowska-Gadomska, Dominik Cysewski, Stefan Rudziński, Ploski Rafal, Piotr Gasperowicz, Magdalena Konarzewska, Jakub Zielinski, Mateusz Mieczkowski, Damian Sieńko, Tomasz Grzela, Maria Noszczyk, Barbara Paleska, Leszek Czupryniak, Malgorzata Lewandowska-Szumiel
Allogenic Adipose-Derived Stem Cells in Diabetic Foot Ulcer Treatment: Clinical Effectiveness, Safety, Survival in the Wound Site, and Proteomic Impact. International journal of molecular sciences 24 (2) (2023)
Katarzyna Bzdęga, Mateusz Biela, Gail H Deutsch, Joseph A Kitzmiller, Małgorzata Rydzanicz, Ploski Rafal, Jeffrey A Whitsett, Robert Śmigiel, Justyna A Karolak
A novel non-recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia. Clinical genetics (2023)
Katarzyna Jaskiewicz, Magdalena Maleszka-Kurpiel, Andrzej Michalski, Ploski Rafal, Malgorzata Rydzanicz, Marzena Gajecka
Non-allergic eye rubbing is a major behavioral risk factor for keratoconus. PloS one 18 (4) (2023)
Patryk Lipiński, Elżbieta Ciara, Dorota Jurkiewicz, Magda Mekrouda, Joanna Cielecka-Kuszyk, Elżbieta Jurkiewicz, Ploski Rafal, Joanna Pawłowska, Irena Jankowska
DCDC2 -Related Ciliopathy: Report of Six Polish Patients, Novel DCDC2 Variant, and Literature Review of Reported Cases. Diagnostics (Basel, Switzerland) 13 (11) (2023)
Justyna Dąbrowska, Barbara Biedziak, Anna Szponar-Żurowska, Margareta Budner, Pawel Piotr Jagodzinski, Ploski Rafal, Adrianna Mostowska
Identification of novel susceptibility genes for non-syndromic cleft lip with or without cleft palate using NGS-based multigene panel testing. Molecular genetics and genomics : MGG 297 (5) (2022)
Maciej Jankowski, Patrycja Daca-Roszak, Cezary Obracht-Prondzyński, Ploski Rafal, Beata Stefania Lipska-Ziętkiewicz, Ewa Zietkiewicz
Genetic diversity in Kashubs: the regional increase in the frequency of several disease-causing variants. Journal of applied genetics 63 (4) (2022)
Joanna Kinga Ponińska, Zofia Teresa Bilińska, Grażyna Truszkowska, Ewa Michalak, Anna Podgórska, Małgorzata Stępień-Wojno, Przemysław Chmielewski, Anna Lutyńska, Ploski Rafal
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. Journal of translational medicine 20 (1) (2022)
Abhishek Anil Dubey, Magdalena Krygier, Natalia A Szulc, Karolina Rutkowska, Joanna Kosińska, Agnieszka Pollak, Małgorzata Rydzanicz, Tomasz Kmieć, Maria Mazurkiewicz-Bełdzińska, Wojciech Pokrzywa, Ploski Rafal
A novel de novo FEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs, and limb ataxia. Human molecular genetics (2022)
Malgorzata Rydzanicz, Wojciech Michał Glinkowski, Anna Walczak, Agnieszka Koppolu, Grażyna Kostrzewa, Piotr Gasperowicz, Agnieszka Pollak, Piotr Stawiński, Ploski Rafal
Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis. American journal of medical genetics. Part A 188 (5) (2022)
Ting-Yu Lin, Robert Smigiel, Bozena Kuzniewska, Joanna J Chmielewska, Joanna Kosińska, Mateusz Biela, Anna Biela, Anna Kościelniak, Dominika Dobosz, Izabela Laczmanska, Andrzej Chramiec-Głąbik, Jakub Jeżowski, Jakub Nowak, Monika Gos, Sylwia Rzonca-Niewczas, Magdalena Dziembowska, Ploski Rafal, Sebastian Glatt
Destabilization of mutated human PUS3 protein causes intellectual disability. Human mutation (2022)
Mateusz Biela, Malgorzata Rydzanicz, Agnieszka Jankowska, Agnieszka Szlagatys Sidorkiewicz, Anna Rozensztrauch, Ploski Rafal, Robert Smigiel
Further Delineation of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities Caused by ZNF699 Gene Mutation. Genes 13 (2) (2022)
Barbara Biedziak, Justyna Dąbrowska, Anna Szponar-Żurowska, Ewelina M Olech, Aleksander Jamsheer, Marek Ruchala, Jennifer Gladys Mulle, Ploski Rafal, Adrianna Mostowska
Identification of a new familial case of 3q29 deletion syndrome associated with cleft lip and palate via whole-exome sequencing. American journal of medical genetics. Part A (2022)
Lena Rutkowska, Iwona Pinkier, Kinga Sałacińska, Łukasz Kępczyński, Dominik Salachna, Joanna Lewek, Maciej Banach, Pawel Matusik, Ewa Starostecka, Andrzej Lewiński, Ploski Rafal, Piotr Stawiński, Agnieszka Gach
Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients. Genes 13 (8) (2022)
Magdalena Badura-Stronka, Robert Śmigiel, Karolina Rutkowska, Krystyna Szymańska, Adam Sebastian Hirschfeld, Michał Monkiewicz, Joanna Kosińska, Ewelina Wolańska, Małgorzata Rydzanicz, Anna Latos-Bieleńska, Ploski Rafal
FINCA syndrome-Defining neurobehavioral phenotype in survivors into late childhood. Molecular genetics & genomic medicine 10 (4) (2022)
Anna Sedakierska-Chudy, Paweł Szymanowski, Arleta Lebioda, Ploski Rafal
Identification and In Silico Characterization of a Novel COLGALT2 Gene Variant in a Child with Mucosal Rectal Prolapse. International journal of molecular sciences 23 (7) (2022)
Marta Zawadzka, Magdalena Krygier, Małgorzata Pawłowicz, Matheus Vernet Machado Bressan Wilke, Karolina Rutkowska, Naig Gueguen, Valerie Desquiret-Dumas, Eric W Klee, Lisa A Schimmenti, Jaroslaw Slawek, Vincent Procaccio, Ploski Rafal, Maria Mazurkiewicz-Beldzinska
Expanding the phenotype of DNAJC30-associated Leigh syndrome. Clinical genetics 102 (5) (2022)
Agnieszka Stembalska, Malgorzata Rydzanicz, Wojciech Walas, Piotr Gasperowicz, Agnieszka Pollak, Victor Murcia Pienkowski, Mateusz Biela, Klaniewska Magdalena, Zuzanna Gamrot, Ewa Gronska, Ploski Rafal, Robert Smigiel
Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene. Genes 13 (5) (2022)
Agnieszka Stembalska, Malgorzata Rydzanicz, Klaniewska Magdalena, Lech Dudarewicz, Agnieszka Pollak, Mateusz Biela, Piotr Stawinski, Ploski Rafal, Robert Smigiel
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. Genes 13 (8) (2022)
Aleksander Salomon-Perzyński, Joanna Barankiewicz, Marcin M Machnicki, Irena Misiewicz-Krzeminska, Michał Pawlak, Sylwia Radomska, Agnieszka Krzywdzińska, Aleksandra Bluszcz, Piotr Stawiński, Malgorzata Rydzanicz, Natalia Jakacka, Iwona Solarska, Katarzyna Borg, Zofia Spyra-Górny, Tomasz Szpila, Bartosz Puła, Sebastian Grosicki, Stokłosa Tomasz, Ploski Rafal, Ewa Lech-Marańda, Jana Jakubikova, Krzysztof Jamroziak
Tracking Clonal Evolution of Multiple Myeloma Using Targeted Next-Generation DNA Sequencing. Biomedicines 10 (7) (2022)
Patryk Lipiński, Krzysztof Szczałuba, Piotr Buda, Ekaterina Y Zakharova, Galina Baydakova, Agnieszka Ługowska, Agnieszka Różdzyńska-Świątkowska, Zuzanna Cyske, Grzegorz Wegrzyn, Agnieszka Pollak, Ploski Rafal, Anna Tylki-Szymańska
Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients. International journal of molecular sciences 23 (19) (2022)
Mateusz Biela, Malgorzata Rydzanicz, Krystyna Szymanska, Karolina Pieniawska-Smiech, Aleksandra Lewandowicz-Uszynska, Joanna Chruszcz, Lucyna Benben, Malgorzata Kuzior-Plawiak, Pawel Szyld, Aleksandra Jakubiak, Leszek Szenborn, Ploski Rafal, Smigiel Robert
Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review. Molecular genetics & genomic medicine 9 (9) (2021)
Anna Materna-Kiryluk, Agnieszka Pollak, Karol Gawalski, Aleksandra Szczawinska-Poplonyk, Zuzanna Rydzynska, Anna Sosnowska, Bożena Cukrowska, Piotr Gasperowicz, Ewa Konopka, Barbara Pietrucha, Tomasz M Grzywa, Magdalena Banaszak-Ziemska, Marek Niedziela, Jolanta Skalska-Sadowska, Piotr Stawiński, Dariusz Śladowski, Dominika Nowis, Ploski Rafal
Mosaic IL6ST variant inducing constitutive GP130 cytokine receptor signaling as a cause of neonatal onset immunodeficiency with autoinflammation and dysmorphy. Human molecular genetics 30 (3-4) (2021)
Aleksandra Jezela-Stanek, Elżbieta Szczepanik, Hanna Mierzewska, Małgorzata Rydzanicz, Karolina Rutkowska, Alexej Knaus, Robert Śmigiel, Iwona Stępniak, Michał G Markiewicz, Snir Boniel, Peter Krawitz, Ploski Rafal
Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients. Clinical genetics 98 (5) (2021)
Łukasz Milewski, Aneta Ścieżyńska, Joanna Ponińska, Marta Soszyńska, Ewa Barcz, Piotr I Roszkowski, Paweł Kamiński, Paweł K Włodarski, Ploski Rafal, Jacek Malejczyk
Endometriosis Is Associated with Functional Polymorphism in the Promoter of Heme Oxygenase 1 (HMOX1) Gene. Cells 10 (3) (2021)
Agnieszka Ługowska, Joanna K Purzycka-Olewiecka, Ploski Rafal, Grażyna Truszkowska, Maciej Pronicki, Paulina Felczak, Mateusz Śpiewak, Aleksandra Podlecka-Piętowska, Martyna Sitek, Zofia Teresa Bilińska, Przemysław Leszek, Małgorzata Bednarska-Makaruk
Tripeptidyl Peptidase 1 (TPP1) Deficiency in a 36-Year-Old Patient with Cerebellar-Extrapyramidal Syndrome and Dilated Cardiomyopathy. Life (Basel, Switzerland) 12 (1) (2021)
Ewelina Wolańska, Agnieszka Pollak, Malgorzata Rydzanicz, Karolina Pesz, Klaniewska Magdalena, Anna Rozensztrauch, Paweł Skiba, Piotr Stawiński, Ploski Rafal, Robert Śmigiel
The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited xq24 Deletion including the UBE2A and CXorf56 Genes. Genes 12 (3) (2021)
Krzysztof Szczaluba, Malgorzata Rydzanicz, Anna Walczak, Joanna Kosińska, Agnieszka Koppolu, Anna Biernacka, Katarzyna Iwanicka-Pronicka, Wieslawa Grajkowska, Elżbieta Jurkiewicz, Paweł Kowalczyk, Ploski Rafal
Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith-Kingsmore Phenotype with Recurrent Hypoglycemia-A Novel Phenotype and a Further Proof for Testing of an Affected Tissue. Diagnostics (Basel, Switzerland) 11 (7) (2021)
Sylwia Rzonca-Niewczas, Jolanta Wierzba, Ewa Kaczorowska, Milena Poryszewska, Joanna Kosińska, Piotr Stawiński, Ploski Rafal, Jerzy Bal
WDR13 : A Novel Gene Implicated in Non-Syndromic Intellectual Disability. Genes 12 (12) (2021)
Dmytro Sirokha, Olexandra Gorodna, Yakov Vitrenko, Nataliya Zelinska, Ploski Rafal, Serge Nef, Maciej J Smialek, Kamila Kusz-Zamelczyk, Liudmyla Livshits
A Novel WT1 Mutation Identified in a 46,XX Testicular/Ovotesticular DSD Patient Results in the Retention of Intron 9. Biology 10 (12) (2021)
Sarah L Stenton, Dorota Piekutowska-Abramczuk, Lea Kulterer, Robert Kopajtich, Kristl G Claeys, Elżbieta Ciara, Johannes Eisen, Ploski Rafal, Ewa Pronicka, Katarzyna Malczyk, Matias Wagner, Saskia B Wortmann, Holger Prokisch
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance. Human mutation 42 (3) (2021)
Agnieszka Stembalska, Malgorzata Rydzanicz, Agnieszka Pollak, Grazyna Kostrzewa, Piotr Stawinski, Mateusz Biela, Ploski Rafal, Smigiel Robert
Prenatal Versus Postnatal Diagnosis of Meckel-Gruber and Joubert Syndrome in Patients with TMEM67 Mutations. Genes 12 (7) (2021)
Malgorzata Rydzanicz, Piotr Zwoliński, Piotr Gasperowicz, Agnieszka Pollak, Grażyna Kostrzewa, Anna Walczak, Magdalena Konarzewska, Ploski Rafal
A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy. American journal of medical genetics. Part A 185 (11) (2021)
Agnieszka Halas, Jolanta Fijak-Moskal, Renata Kuberska, Victor Murcia Pienkowski, Aneta Kaniak-Golik, Agnieszka Pollak, Jarosław Poznanski, Malgorzata Rydzanicz, Mirosław Bik-Multanowski, Ewa Sledziewska-Gojska, Ploski Rafal
Developmental delay with hypotrophy associated with homozygous functionally relevant REV3L variant. Journal of molecular medicine (Berlin, Germany) 99 (3) (2021)
Magdalena Kukla-Bartoszek, Paweł Teisseyre, Ewelina Pośpiech, Joanna Karłowska-Pik, Piotr Zieliński, Anna Woźniak, Michał Boroń, Michal Dabrowski, Magdalena Zubańska, Agata Jarosz, Ploski Rafal, Tomasz Grzybowski, Magdalena Spólnicka, Jan Mielniczuk, Wojciech Branicki
Searching for improvements in predicting human eye colour from DNA. International journal of legal medicine 135 (6) (2021)
Przemysław Chmielewski, Grażyna T Truszkowska, Ilona Kowalik, Malgorzata Rydzanicz, Ewa Michalak, Małgorzata Sobieszczańska-Małek, Maria Franaszczyk, Piotr Stawiński, Małgorzata Stępień-Wojno, Artur Oręziak, Michał Lewandowski, Przemysław Leszek, Maria Bilińska, Tomasz Zieliński, Ploski Rafal, Zofia Teresa Bilińska
Titin-Related Dilated Cardiomyopathy: The Clinical Trajectory and the Role of Circulating Biomarkers in the Clinical Assessment. Diagnostics (Basel, Switzerland) 12 (1) (2021)
Anna Kutkowska-Kaźmierczak, Maria Boczar, Ewa Kalka, Jennifer Castañeda, Jakub Klapecki, Aleksandra Pietrzyk, Artur Barczyk, Olga Malinowska, Aleksandra Landowska, Tomasz Gambin, Katarzyna Kowalczyk, Barbara Wiśniowiecka-Kowalnik, Marta Smyk, Mateusz Dawidziuk, Katarzyna Niepokój, Magdalena Paczkowska, Paweł Szyld, Beata Lipska-Ziętkiewicz, Krzysztof Szczaluba, Ewa Kostyk, Agata Runge, Karolina Rutkowska, Ploski Rafal, Beata Nowakowska, Jerzy Bal, Ewa Obersztyn, Monika Gos
Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3. Genes 12 (8) (2021)
Mateusz Dawidziuk, Anna Kutkowska-Kaźmierczak, Paweł Gawliński, Wojciech Wiszniewski, Monika Gos, Piotr Stawiński, Malgorzata Rydzanicz, Joanna Kosińska, Paweł Własienko, Olga Malinowska Kordowska, Magdalena Bartnik-Głaska, Joanna Bernaciak, Krzysztof Szczaluba, Monika Bekiesińska-Figatowska, Ploski Rafal, Jerzy Bal, Sylwia Rzonca-Niewczas
The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981*). Journal of mother and child 24 (3) (2021)
Ryszard Slezak, Smigiel Robert, Ewa Obersztyn, Agnieszka Pollak, Mateusz Dawidziuk, Wojciech Wiszniewski, Monika Bekiesińska-Figatowska, Malgorzata Rydzanicz, Ploski Rafal, Pawel Gawlinski
Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene. Genes 12 (4) (2021)
Arwin Ralf, Delano Lubach, Nefeli Kousouri, Christian Winkler, Iris Schulz, Lutz Roewer, Josephine Purps, Rüdiger Lessig, Pawel Krajewski, Ploski Rafal, Tadeusz Dobosz, Lotte Henke, Jürgen Henke, Maarten H D Larmuseau, Manfred Kayser
Identification and characterization of novel rapidly mutating Y-chromosomal short tandem repeat markers. Human mutation 41 (9) (2020)
Przemysław Chmielewski, Grażyna T Truszkowska, Piotr Kukla, Joanna Zakrzewska-Koperska, Mateusz Śpiewak, Małgorzata Stępień-Wojno, Maria Bilińska, Anna Lutyńska, Ploski Rafal, Zofia Teresa Bilińska
A Novel DSP Truncating Variant in a Family with Episodic Myocardial Injury in the Course of Arrhythmogenic Cardiomyopathy-A Possible Role of a Low Penetrance NLRP3 Variant. Diagnostics (Basel, Switzerland) 10 (11) (2020)
Krzysztof Szczaluba, Hanna Mierzewska, Smigiel Robert, Joanna Kosińska, Agnieszka Koppolu, Anna Biernacka, Piotr Stawiński, Agnieszka Pollak, Malgorzata Rydzanicz, Ploski Rafal
AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant. Journal of applied genetics 61 (2) (2020)
Malgorzata Rydzanicz, Pawel Olszewski, Darek Kedra, Hanna Davies, Natalia Filipowicz, Bożena Bruhn-Olszewska, Marco Cavalli, Krzysztof Szczaluba, Marlena Młynek, Marcin M Machnicki, Piotr Stawiński, Grażyna Kostrzewa, Paweł Krajewski, Dariusz Śladowski, Krystyna Chrzanowska, Jan P Dumanski, Ploski Rafal
Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins-Diagnostic implications. Molecular genetics & genomic medicine 9 (1) (2020)
Justyna A Karolak, Tomasz Gambin, Malgorzata Rydzanicz, Piotr Polakowski, Ploski Rafal, Jacek P Szaflik, Marzena Gajecka
Accumulation of sequence variants in genes of Wnt signaling and focal adhesion pathways in human corneas further explains their involvement in keratoconus. PeerJ 8 (2020)
Krzysztof Szczaluba, Ewa Makuła, Anna Piórecka-Makuła, Justyna Sicińska, Malgorzata Rydzanicz, Piotr Gasperowicz, Ploski Rafal, Bozena Werner
Intracardiac tumor as a rare manifestation of genetic syndromes-presentation of a family with Gorlin syndrome and a literature review. Journal of applied genetics 61 (4) (2020)
Victor Murcia Pienkowski, Marzena Kucharczyk, Małgorzata Rydzanicz, Barbara Poszewiecka, Katarzyna Pachota, Marlena Młynek, Piotr Stawiński, Agnieszka Pollak, Joanna Kosińska, Katarzyna Wojciechowska, Monika Lejman, Agata Cieślikowska, Dorota Wicher, Agnieszka Stembalska, Karolina Matuszewska, Anna Materna-Kiryluk, Anna Gambin, Krystyna Chrzanowska, Małgorzata Krajewska-Walasek, Ploski Rafal
Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype. Journal of clinical medicine 9 (5) (2020)
Robert Marek Nowak, Jan Paweł Jastrzębski, Wiktor Kuśmirek, Rusłan Sałamatin, Małgorzata Rydzanicz, Agnieszka Sobczyk-Kopcioł, Anna Sulima-Celińska, Łukasz Paukszto, Karol Gustaw Makowczenko, Ploski Rafal, Vasyl V Tkach, Katarzyna Basałaj, Daniel Młocicki
Author Correction: Hybrid de novo whole-genome assembly and annotation of the model tapeworm Hymenolepis diminuta. Scientific data 7 (1) (2020)
Ryszard Slezak, Robert Smigiel, Malgorzata Rydzanicz, Agnieszka Pollak, Joanna Kosinska, Piotr Stawinski, Maria Malgorzata Sasiadek, Ploski Rafal
Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene. Molecular genetics & genomic medicine 8 (10) (2020)
Robert Marek Nowak, Jan Paweł Jastrzębski, Wiktor Kuśmirek, Rusłan Sałamatin, Małgorzata Rydzanicz, Agnieszka Sobczyk-Kopcioł, Anna Sulima-Celińska, Łukasz Paukszto, Karol Gustaw Makowczenko, Ploski Rafal, Vasyl V Tkach, Katarzyna Basałaj, Daniel Młocicki
Hybrid de novo whole-genome assembly and annotation of the model tapeworm Hymenolepis diminuta. Scientific data 6 (1) (2019)
Agnieszka Ługowska, Katarzyna Hetmańczyk-Sawicka, Roksana Iwanicka-Nowicka, Anna Fogtman, Jarosław Cieśla, Joanna Karolina Purzycka-Olewiecka, Dominika Sitarska, Ploski Rafal, Mirella Filocamo, Susanna Lualdi, Małgorzata Bednarska-Makaruk, Marta Koblowska
Gene expression profile in patients with Gaucher disease indicates activation of inflammatory processes. Scientific reports 9 (1) (2019)
Katarzyna Krenke, Krzysztof Szczaluba, Teresa Bielecka, Malgorzata Rydzanicz, Joanna Lange, Agnieszka Koppolu, Ploski Rafal
FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects. Clinical genetics 96 (5) (2019)
Magdalena Krygier, Mariusz Kwarciany, Krystyna Wasilewska, Victor Murcia Pienkowski, Natalia Krawczyńska, Daniel Zielonka, Joanna Kosińska, Piotr Stawinski, Monika Rudzińska-Bar, Magdalena Boczarska-Jedynak, Bartosz Karaszewski, Janusz Limon, Jarosław Sławek, Ploski Rafal, Małgorzata Rydzanicz
A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene. Clinical genetics 95 (3) (2019)
Anna Jakubiuk-Tomaszuk, Victor Murcia Pienkowski, Szymon Zietkiewicz, Małgorzata Rydzanicz, Joanna Kosińska, Piotr Stawiński, Michał Szumiński, Ploski Rafal
Syndromic chorioretinal coloboma associated with heterozygous de novo RARA mutation affecting an amino acid critical for retinoic acid interaction. Clinical genetics 96 (4) (2019)
Justyna Paprocka, Aleksandra Jezela-Stanek, Agniesz Koppolu, Małgorzata Rydzanicz, Joanna Kosińska, Piotr Stawiński, Ploski Rafal
FGF12p.Gly112Ser variant as a cause of phenytoin/phenobarbital responsive epilepsy. Clinical genetics 96 (3) (2019)
Maciej Janiak, Karol Perlejewski, Piotr Grabarczyk, Dorota Kubicka-Russel, Osvaldo Zagordi, Hanna Berak, Sylwia Osuch, Agnieszka Pawełczyk, Iwona Bukowska-Ośko, Ploski Rafal, Tomasz Laskus, Kamila Caraballo Cortes
Hepatitis C virus (HCV) genotype 1b displays higher genetic variability of hypervariable region 1 (HVR1) than genotype 3. Scientific reports 9 (1) (2019)
Aleksandra Jezela-Stanek, Anna Walczak, Michał Łaźniewski, Joanna Kosińska, Piotr Stawiński, Victor Murcia Pienkowski, Anna Biernacka, Małgorzata Rydzanicz, Grażyna Kostrzewa, Paweł Krajewski, Dariusz Plewczyński, Ploski Rafal
Novel COL12A1 variant as a cause of mild familial extracellular matrix-related myopathy. Clinical genetics 95 (6) (2019)
Victor Murcia Pienkowski, Marzena Kucharczyk, Marlena Młynek, Krzysztof Szczaluba, Małgorzata Rydzanicz, Barbara Poszewiecka, Agata Skórka, Maciej Sykulski, Anna Biernacka, Agnieszka Anna Koppolu, Renata Posmyk, Anna Walczak, Joanna Kosińska, Paweł Krajewski, Jennifer Castaneda, Ewa Obersztyn, Elżbieta Jurkiewicz, Robert Śmigiel, Anna Gambin, Krystyna Chrzanowska, Małgorzata Krajewska-Walasek, Ploski Rafal
Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders. Journal of medical genetics 56 (2) (2018)
Anna Kutkowska-Kaźmierczak, Małgorzata Rydzanicz, Aleksander Chlebowski, Kamila Kłosowska-Kosicka, Adriana Mika, Jakub Gruchota, Elżbieta Jurkiewicz, Cezary Kowalewski, Agnieszka Pollak, Teresa Joanna Stradomska, Tomasz Kmieć, Rafał Jakubowski, Piotr Gasperowicz, Anna Walczak, Dariusz Śladowski, Ewa Jankowska-Steifer, Lech Korniszewski, Joanna Kosińska, Ewa Obersztyn, Wieslaw Nowak, Tomasz Śledziński, Andrzej Dziembowski, Ploski Rafal
Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features. Journal of medical genetics 55 (6) (2018)
Bartłomiej Kisiel, Robert Kruszewski, Aleksandra Juszkiewicz, Anna Raczkiewicz, Artur Bachta, Krzysztof Kłos, Krzysztof Duda, Artur Maliborski, Konrad Szymański, Ploski Rafal, Marek Saracyn, Stanisław Niemczyk, Katarzyna Kisiel, Małgorzata Tłustochowicz, Witold Tłustochowicz
Common atherosclerosis genetic risk factors and subclinical atherosclerosis in rheumatoid arthritis: the relevance of disease duration. Rheumatology international 39 (2) (2018)
Marek Saracyn, Bartłomiej Kisiel, Artur Bachta, Maria Franaszczyk, Dorota Brodowska-Kania, Wawrzyniec Żmudzki, Konrad Szymański, Antoni Sokalski, Wiesław Klatko, Marek Stopiński, Janusz Grochowski, Marek Papliński, Zdzisław Goździk, Longin Niemczyk, Barbara Bober, Maciej Kołodziej, Witold Tłustochowicz, Grzegorz Kamiński, Ploski Rafal, Stanisław Niemczyk
Value of multilocus genetic risk score for atrial fibrillation in end-stage kidney disease patients in a Polish population. Scientific reports 8 (1) (2018)
Smigiel Robert, Anna Biernacka, Mateusz Biela, Victor Murcia-Pienkowski, Elzbieta Szmida, Piotr Gasperowicz, Joanna Kosinska, Grazyna Kostrzewa, Agnieszka Anna Koppolu, Anna Walczak, Dominik Wawrzuta, Malgorzata Rydzanicz, Malgorzata Sasiadek, Ploski Rafal
Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome. Journal of human genetics 63 (4) (2018)
Alina T Midro, Beata Stasiewicz-Jarocka, Jan Borys, Kazimierz Kozłowski, Bożena Skotnicka, Eugeniusz Tarasów, Ewa Hubert, Jerzy Konstantynowicz, Barbara Panasiuk, Małgorzata Rydzanicz, Agnieszka Pollak, Piotr Stawiński, Rafał Skowroński, Ploski Rafal
A 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation. American journal of medical genetics. Part A 176 (11) (2018)
Jacek Pilch, Agnieszka A Koppolu, Anna Walczak, Victor A Murcia Pienkowski, Anna Biernacka, Paweł Skiba, Joanna Machnik-Broncel, Piotr Gasperowicz, Joanna Kosińska, Małgorzata Rydzanicz, Ewa Emich-Widera, Ploski Rafal
Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation. Clinical genetics 94 (3-4) (2018)
Krzysztof Szczaluba, Joanna J Chmielewska, Olga Sokolowska, Malgorzata Rydzanicz, Krystyna Szymańska, Wojciech Feleszko, Paweł Włodarski, Anna Biernacka, Victor Murcia Pienkowski, Anna Walczak, Elżbieta Bargeł, Katarzyna Królewczyk, Agata Nowacka, Piotr Stawiński, Dominika Nowis, Magdalena Dziembowska, Ploski Rafal
Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines. Clinical genetics 94 (6) (2018)
Anna Wawrocka, Joanna Walczak-Sztulpa, Magdalena Badura-Stronka, Michal Owecki, Przemysław Kopczynski, Ewa Mrukwa-Kominek, Anna Skorczyk-Werner, Piotr Gasperowicz, Ploski Rafal, Maciej R Krawczynski
Co-occurrence of Jalili syndrome and muscular overgrowth. American journal of medical genetics. Part A 173 (8) (2017)
Agnieszka Kalinska-Bienias, Agnieszka Pollak, Cezary Kowalewski, Urszula Lechowicz, Piotr Stawinski, Aleksandra Gergont, Joanna Kosinska, Ewa Pronicka, Pawel Kowalski, Katarzyna Wozniak, Ploski Rafal
Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy. American journal of medical genetics. Part A 173 (11) (2017)
Krzysztof Szczaluba, K Szymańska, M Rydzanicz, Elżbieta Ciara, A Walczak, D Piekutowska-Abramczuk, J Kosińska, A Jacoszek, K Czerska, A Biernacka, M Laure-Kamionowska, P Gasperowicz, E Pronicka, Ploski Rafal
A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa. Clinical genetics 93 (5) (2017)

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Ploski Rafal (Rafal Ploski, Ploski R, Rafal Płoski, R Płoski, Rafał Płoski, Rafał Ploski)