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Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit
Author / Creator:Śmigiel, Robert ; Biela, Mateusz ; Szmyd, Krzysztof ; Błoch, Michal ; Szmida, Elżbieta ; Skiba, Paweł ; Walczak, Anna ; Gasperowicz, Piotr ; Kosińska, Joanna ; Rydzanicz, Małgorzata ; Stawiński, Piotr ; Biernacka, Anna ; Zielińska, Marzena ; Gołębiowski, Waldemar ; Jalowska, Agnieszka ; Ohia, Grażyna ; Głowska, Bożena ; Walas, Wojciech ; Królak-Olejnik, Barbara ; Krajewski, Paweł ; Sykut-Cegielska, Jolanta ; Sąsiadek, Maria M. ; Płoski, Rafał
Publisher:Basel: MDPI AG
Journal title:Journal of clinical medicine, 2020-07, Vol.9 (7), p.2220
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Titin Truncating Variants in Dilated Cardiomyopathy – Prevalence and Genotype-Phenotype Correlations
Author / Creator:Franaszczyk, Maria ; Chmielewski, Przemyslaw ; Truszkowska, Grazyna ; Stawinski, Piotr ; Michalak, Ewa ; Rydzanicz, Malgorzata ; Sobieszczanska-Malek, Malgorzata ; Pollak, Agnieszka ; Szczygieł, Justyna ; Kosinska, Joanna ; Parulski, Adam ; Stoklosa, Tomasz ; Tarnowska, Agnieszka ; Machnicki, Marcin M. ; Foss-Nieradko, Bogna ; Szperl, Malgorzata ; Sioma, Agnieszka ; Kusmierczyk, Mariusz ; Grzybowski, Jacek ; Zielinski, Tomasz ; Ploski, Rafal ; Bilinska, Zofia T.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2017-01, Vol.12 (1), p.e0169007-e0169007
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Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations
Author / Creator:Elżbieta Ciara ; Rokicki, Dariusz ; Lazniewski, Michal ; Mierzewska, Hanna ; Jurkiewicz, Elżbieta ; Bekiesińska-Figatowska, Monika ; Piekutowska-Abramczuk, Dorota ; Iwanicka-Pronicka, Katarzyna ; Szymańska, Edyta ; Stawiński, Piotr ; Kosińska, Joanna ; Pollak, Agnieszka ; Pronicki, Maciej ; Plewczyński, Dariusz ; Płoski, Rafał ; Pronicka, Ewa
Publisher:London: Nature Publishing Group
Journal title:Journal of human genetics, 2018-04, Vol.63 (4), p.473-485
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Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression
Author / Creator:Rydzanicz, Małgorzata ; Wachowska, Małgorzata ; Cook, Erik C ; Lisowski, Paweł ; Kuźniewska, Bożena ; Szymańska, Krystyna ; Diecke, Sebastian ; Prigione, Alessandro ; Szczałuba, Krzysztof ; Szybińska, Aleksandra ; Koppolu, Agnieszka ; Victor Murcia Pienkowski ; Kosińska, Joanna ; Wiweger, Małgorzata ; Kostrzewa, Grażyna ; Brzozowska, Małgorzata ; Domańska-Pakieła, Dorota ; Jurkiewicz, Elżbieta ; Stawiński, Piotr ; Gromadka, Agnieszka ; Zielenkiewicz, Piotr ; Demkow, Urszula ; Dziembowska, Magdalena ; Kuźnicki, Jacek ; Creamer, Trevor P ; Płoski, Rafał
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2019-01, Vol.27 (1), p.61-69
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AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant
Author / Creator:Szczałuba, Krzysztof ; Mierzewska, Hanna ; Śmigiel, Robert ; Kosińska, Joanna ; Koppolu, Agnieszka ; Biernacka, Anna ; Stawiński, Piotr ; Pollak, Agnieszka ; Rydzanicz, Małgorzata ; Płoski, Rafał
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of applied genetics, 2020-05, Vol.61 (2), p.213-218
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Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients
Author / Creator:Rutkowska, Lena ; Pinkier, Iwona ; Sałacińska, Kinga ; Kępczyński, Łukasz ; Salachna, Dominik ; Lewek, Joanna ; Banach, Maciej ; Matusik, Paweł ; Starostecka, Ewa ; Lewiński, Andrzej ; Płoski, Rafał ; Stawiński, Piotr ; Gach, Agnieszka
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2022-08, Vol.13 (8), p.1424
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Molecular Review of Suspected Alport Syndrome Patients—A Single-Centre Experience
Author / Creator:Halat-Wolska, Paulina ; Ciara, Elżbieta ; Pac, Michał ; Obrycki, Łukasz ; Wicher, Dorota ; Iwanicka-Pronicka, Katarzyna ; Bielska, Ewelina ; Chałupczyńska, Beata ; Siestrzykowska, Dorota ; Kostrzewa, Grażyna ; Stawiński, Piotr ; Płoski, Rafał ; Litwin, Mieczysław ; Chrzanowska, Krystyna
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2025-02, Vol.16 (2), p.196
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ArticlesPeer ReviewedFull Text
Phenotypic expansion in Zhu‐Tokita‐Takenouchi‐Kim syndrome caused by de novo variants in the SON gene
Author / Creator:Slezak, Ryszard ; Smigiel, Robert ; Rydzanicz, Malgorzata ; Pollak, Agnieszka ; Kosinska, Joanna ; Stawinski, Piotr ; Malgorzata Sasiadek, Maria ; Ploski, Rafal
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2020-10, Vol.8 (10), p.e1432-n/a
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ArticlesPeer ReviewedFull Text
Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland
Author / Creator:Tracewska, Anna M. ; Kocyła-Karczmarewicz, Beata ; Rafalska, Agnieszka ; Murawska, Joanna ; Jakubaszko-Jablonska, Joanna ; Rydzanicz, Małgorzata ; Stawiński, Piotr ; Ciara, Elżbieta ; Khan, Muhammad Imran ; Henkes, Arjen ; Hoischen, Alexander ; Gilissen, Christian ; van de Vorst, Maartje ; Cremers, Frans P. M. ; Płoski, Rafał ; Chrzanowska, Krystyna H.
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2019-11, Vol.10 (12), p.959
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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
Author / Creator:Wolańska, Ewelina ; Pollak, Agnieszka ; Rydzanicz, Małgorzata ; Pesz, Karolina ; Kłaniewska, Magdalena ; Rozensztrauch, Anna ; Skiba, Paweł ; Stawiński, Piotr ; Płoski, Rafał ; Śmigiel, Robert
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2021-02, Vol.12 (3), p.350
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ArticlesPeer ReviewedFull Text
Tracking Clonal Evolution of Multiple Myeloma Using Targeted Next-Generation DNA Sequencing
Author / Creator:Salomon-Perzyński, Aleksander ; Barankiewicz, Joanna ; Machnicki, Marcin ; Misiewicz-Krzemińska, Irena ; Pawlak, Michał ; Radomska, Sylwia ; Krzywdzińska, Agnieszka ; Bluszcz, Aleksandra ; Stawiński, Piotr ; Rydzanicz, Małgorzata ; Jakacka, Natalia ; Solarska, Iwona ; Borg, Katarzyna ; Spyra-Górny, Zofia ; Szpila, Tomasz ; Puła, Bartosz ; Grosicki, Sebastian ; Stokłosa, Tomasz ; Płoski, Rafał ; Lech-Marańda, Ewa ; Jakubikova, Jana ; Jamroziak, Krzysztof
Publisher:Basel: MDPI AG
Journal title:Biomedicines, 2022-07, Vol.10 (7), p.1674
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Mild phenotype of glutaric aciduria type 1 in polish patients – novel data from a group of 13 cases
Author / Creator:Pokora, Paulina ; Jezela-Stanek, Aleksandra ; Różdżyńska-Świątkowska, Agnieszka ; Jurkiewicz, Elżbieta ; Bogdańska, Anna ; Szymańska, Edyta ; Rokicki, Dariusz ; Elżbieta Ciara ; Rydzanicz, Małgorzata ; Stawiński, Piotr ; Płoski, Rafał ; Tylki-Szymańska, Anna
Publisher:New York: Springer Nature B.V
Journal title:Metabolic brain disease, 2019-04, Vol.34 (2), p.641-649
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Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen
Author / Creator:Lechowicz, Urszula ; Gambin, Tomasz ; Pollak, Agnieszka ; Podgorska, Anna ; Stawinski, Piotr ; Franke, Andre ; Petersen, Britt-Sabina ; Firczuk, Malgorzata ; Oldak, Monika ; Skarzynski, Henryk ; Ploski, Rafal
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2017-05, Vol.7 (1), p.2543-10, Article 2543
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Insights into the Transposable Mobilome of Paracoccus spp. (Alphaproteobacteria)
Author / Creator:Dziewit, Lukasz ; Baj, Jadwiga ; Szuplewska, Magdalena ; Maj, Anna ; Tabin, Mateusz ; Czyzkowska, Anna ; Skrzypczyk, Grazyna ; Adamczuk, Marcin ; Sitarek, Tomasz ; Stawinski, Piotr ; Tudek, Agnieszka ; Wanasz, Katarzyna ; Wardal, Ewa ; Piechucka, Ewa ; Bartosik, Dariusz
Publisher:United States: Public Library of Science
Journal title:PloS one, 2012-02, Vol.7 (2), p.e32277-e32277
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Clinical heterogeneity of polish patients with KAT6B–related disorder
Author / Creator:Magdalena, Klaniewska ; Anna, Bolanowska‐Tyszko ; Anna, Latos‐Bielenska ; Aleksandra, Jezela‐Stanek ; Krzysztof, Szczaluba ; Malgorzata, Krajewska‐Walasek ; Elzbieta, Ciara ; Magdalena, Pelc ; Dorota, Jurkiewicz ; Piotr, Stawinski ; Agnieszka, Zubkiewicz‐Kucharska ; Małgorzata, Rydzanicz ; Rafal, Ploski ; Robert, Smigiel
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2023-12, Vol.11 (12), p.e2265-n/a
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A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations
Author / Creator:Truszkowska, Grażyna T ; Bilińska, Zofia T ; Kosińska, Joanna ; Śleszycka, Justyna ; Rydzanicz, Małgorzata ; Sobieszczańska-Małek, Małgorzata ; Franaszczyk, Maria ; Bilińska, Maria ; Stawiński, Piotr ; Michalak, Ewa ; Małek, Łukasz A ; Chmielewski, Przemysław ; Foss-Nieradko, Bogna ; Machnicki, Marcin M ; Stokłosa, Tomasz ; Ponińska, Joanna ; Szumowski, Łukasz ; Grzybowski, Jacek ; Piwoński, Jerzy ; Drygas, Wojciech ; Zieliński, Tomasz ; Płoski, Rafał
Publisher:England: BioMed Central
Journal title:BMC medical genetics, 2015-04, Vol.16 (1), p.21-21, Article 21
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Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype
Author / Creator:Murcia Pienkowski, Victor ; Kucharczyk, Marzena ; Rydzanicz, Małgorzata ; Poszewiecka, Barbara ; Pachota, Katarzyna ; Młynek, Marlena ; Stawiński, Piotr ; Pollak, Agnieszka ; Kosińska, Joanna ; Wojciechowska, Katarzyna ; Lejman, Monika ; Cieślikowska, Agata ; Wicher, Dorota ; Stembalska, Agnieszka ; Matuszewska, Karolina ; Materna-Kiryluk, Anna ; Gambin, Anna ; Chrzanowska, Krystyna ; Krajewska-Walasek, Małgorzata ; Płoski, Rafał
Publisher:Switzerland: MDPI AG
Journal title:Journal of clinical medicine, 2020-04, Vol.9 (5), p.1245
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Application of next‑generation sequencing to identify mitochondrial mutations: Study on m.7511T>C in patients with hearing loss
Author / Creator:Lechowicz, Urszula ; Pollak, Agnieszka ; Frączak, Agnieszka ; Rydzanicz, Małgorzata ; Stawiński, Piotr ; Lorens, Artur ; Skarżyński, Piotr ; Skarżyński, Henryk ; Płoski, Rafał ; Ołdak, Monika
Publisher:Greece: Spandidos Publications UK Ltd
Journal title:Molecular medicine reports, 2018-01, Vol.17 (1), p.1782-1790
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Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy
Author / Creator:Truszkowska, Grażyna T. ; Bilińska, Zofia T. ; Muchowicz, Angelika ; Pollak, Agnieszka ; Biernacka, Anna ; Kozar-Kamińska, Katarzyna ; Stawiński, Piotr ; Gasperowicz, Piotr ; Kosińska, Joanna ; Zieliński, Tomasz ; Płoski, Rafał
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2017-06, Vol.7 (1), p.3362-5, Article 3362
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Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants
Author / Creator:Lipiński, Patryk ; Stawiński, Piotr ; Rydzanicz, Małgorzata ; Wypchło, Maria ; Płoski, Rafał ; Stradomska, Teresa Joanna ; Jurkiewicz, Elżbieta ; Ferdinandusse, Sacha ; Wanders, Ronald J. A. ; Vaz, Frederic M. ; Tylki-Szymańska, Anna
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of applied genetics, 2020-02, Vol.61 (1), p.87-91
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Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit

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Titin Truncating Variants in Dilated Cardiomyopathy – Prevalence and Genotype-Phenotype Correlations

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Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations

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Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression

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AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant

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

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

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Phenotypic expansion in Zhu‐Tokita‐Takenouchi‐Kim syndrome caused by de novo variants in the SON gene

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Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland

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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

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

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Mild phenotype of glutaric aciduria type 1 in polish patients – novel data from a group of 13 cases

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Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen

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Insights into the Transposable Mobilome of Paracoccus spp. (Alphaproteobacteria)

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Clinical heterogeneity of polish patients with KAT6B–related disorder

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A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations

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Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype

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Application of next‑generation sequencing to identify mitochondrial mutations: Study on m.7511T>C in patients with hearing loss

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Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy

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Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants

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