Cryptic MYC insertions in Burkitt lymphoma: New data and a review of the literature
Woroniecka, Renata, Rymkiewicz, Grzegorz, Szafron, Lukasz M, Blachnio, Katarzyna, Szafron, Laura A, Bystydzienski, Zbigniew, Pienkowska-Grela, Barbara, Borkowska, Klaudia, Rygier, Jolanta, Kotyl, Aleksandra, Malawska, Natalia, Wojtkowska, Katarzyna, Parada, Joanna, Borysiuk, Anita, Murcia Pienkowski, Victor, Rydzanicz, Malgorzata, Grygalewicz, Beata
Published in PloS one (15.02.2022)
Published in PloS one (15.02.2022)
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Journal Article
Gene Expression Profile of Human Mesenchymal Stromal Cells Exposed to Hypoxic and Pseudohypoxic Preconditioning—An Analysis by RNA Sequencing
Zielniok, Katarzyna, Burdzinska, Anna, Murcia Pienkowski, Victor, Koppolu, Agnieszka, Rydzanicz, Malgorzata, Zagozdzon, Radoslaw, Paczek, Leszek
Published in International journal of molecular sciences (01.08.2021)
Published in International journal of molecular sciences (01.08.2021)
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Journal Article
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy
Riedhammer, Korbinian M, Stockler, Sylvia, Ploski, Rafal, Wenzel, Maren, Adis-Dutschmann, Burkhard, Ahting, Uwe, Alhaddad, Bader, Blaschek, Astrid, Haack, Tobias B, Kopajtich, Robert, Lee, Jessica, Murcia Pienkowski, Victor, Pollak, Agnieszka, Szymanska, Krystyna, Tarailo-Graovac, Maja, van der Lee, Robin, van Karnebeek, Clara D, Meitinger, Thomas, Krägeloh-Mann, Ingeborg, Vill, Katharina
Published in Brain (London, England : 1878) (03.03.2021)
Published in Brain (London, England : 1878) (03.03.2021)
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Journal Article
Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression
Rydzanicz, Małgorzata, Wachowska, Małgorzata, Cook, Erik C, Lisowski, Paweł, Kuźniewska, Bożena, Szymańska, Krystyna, Diecke, Sebastian, Prigione, Alessandro, Szczałuba, Krzysztof, Szybińska, Aleksandra, Koppolu, Agnieszka, Murcia Pienkowski, Victor, 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
Published in European journal of human genetics : EJHG (01.01.2019)
Published in European journal of human genetics : EJHG (01.01.2019)
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Journal Article
Developmental delay with hypotrophy associated with homozygous functionally relevant REV3L variant
Halas, Agnieszka, Fijak-Moskal, Jolanta, Kuberska, Renata, Murcia Pienkowski, Victor, Kaniak-Golik, Aneta, Pollak, Agnieszka, Poznanski, Jarosław, Rydzanicz, Malgorzata, Bik-Multanowski, Mirosław, Sledziewska-Gojska, Ewa, Płoski, Rafał
Published in Journal of molecular medicine (Berlin, Germany) (01.03.2021)
Published in Journal of molecular medicine (Berlin, Germany) (01.03.2021)
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Journal Article
Syndromic chorioretinal coloboma associated with heterozygous de novo RARA mutation affecting an amino acid critical for retinoic acid interaction
Jakubiuk‐Tomaszuk, Anna, Murcia Pienkowski, Victor, Zietkiewicz, Szymon, Rydzanicz, Małgorzata, Kosińska, Joanna, Stawiński, Piotr, Szumiński, Michał, Płoski, Rafał
Published in Clinical genetics (01.10.2019)
Published in Clinical genetics (01.10.2019)
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Journal Article
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
Murcia Pienkowski, Victor, Kucharczyk, Marzena, Młynek, Marlena, Szczałuba, Krzysztof, Rydzanicz, Małgorzata, Poszewiecka, Barbara, Skórka, Agata, Sykulski, Maciej, Biernacka, Anna, Koppolu, Agnieszka Anna, Posmyk, Renata, Walczak, Anna, Kosińska, Joanna, Krajewski, Paweł, Castaneda, Jennifer, Obersztyn, Ewa, Jurkiewicz, Elżbieta, Śmigiel, Robert, Gambin, Anna, Chrzanowska, Krystyna, Krajewska-Walasek, Małgorzata, Płoski, Rafał
Published in Journal of medical genetics (01.02.2019)
Published in Journal of medical genetics (01.02.2019)
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Journal Article
Novel COL12A1 variant as a cause of mild familial extracellular matrix‐related myopathy
Jezela‐Stanek, Aleksandra, Walczak, Anna, Łaźniewski, Michał, Kosińska, Joanna, Stawiński, Piotr, Murcia Pienkowski, Victor, Biernacka, Anna, Rydzanicz, Małgorzata, Kostrzewa, Grażyna, Krajewski, Paweł, Plewczyński, Dariusz, Płoski, Rafał
Published in Clinical genetics (01.06.2019)
Published in Clinical genetics (01.06.2019)
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Journal Article
A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene
Krygier, Magdalena, Kwarciany, Mariusz, Wasilewska, Krystyna, Pienkowski, Victor Murcia, Krawczyńska, Natalia, Zielonka, Daniel, Kosińska, Joanna, Stawinski, Piotr, Rudzińska‐Bar, Monika, Boczarska‐Jedynak, Magdalena, Karaszewski, Bartosz, Limon, Janusz, Sławek, Jarosław, Płoski, Rafał, Rydzanicz, Małgorzata
Published in Clinical genetics (01.03.2019)
Published in Clinical genetics (01.03.2019)
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Journal Article
Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines
Szczałuba, Krzysztof, Chmielewska, Joanna J., Sokolowska, Olga, Rydzanicz, Małgorzata, Szymańska, Krystyna, Feleszko, Wojciech, Włodarski, Paweł, Biernacka, Anna, Murcia Pienkowski, Victor, Walczak, Anna, Bargeł, Elżbieta, Królewczyk, Katarzyna, Nowacka, Agata, Stawiński, Piotr, Nowis, Dominika, Dziembowska, Magdalena, Płoski, Rafał
Published in Clinical genetics (01.12.2018)
Published in Clinical genetics (01.12.2018)
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Journal Article
Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6 , KLF13 and UBR3 Genes to Novel Disease Phenotype
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
Published in Journal of clinical medicine (25.04.2020)
Published in Journal of clinical medicine (25.04.2020)
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Journal Article
Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome
Smigiel, Robert, Biernacka, Anna, Biela, Mateusz, Murcia-Pienkowski, Victor, Szmida, Elzbieta, Gasperowicz, Piotr, Kosinska, Joanna, Kostrzewa, Grazyna, Koppolu, Agnieszka Anna, Walczak, Anna, Wawrzuta, Dominik, Rydzanicz, Malgorzata, Sasiadek, Malgorzata, Ploski, Rafal
Published in Journal of human genetics (01.04.2018)
Published in Journal of human genetics (01.04.2018)
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Journal Article
Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene
Stembalska, Agnieszka, Rydzanicz, Małgorzata, Walas, Wojciech, Gasperowicz, Piotr, Pollak, Agnieszka, Pienkowski, Victor Murcia, Biela, Mateusz, Klaniewska, Magdalena, Gamrot, Zuzanna, Gronska, Ewa, Ploski, Rafal, Smigiel, Robert
Published in Genes (21.04.2022)
Published in Genes (21.04.2022)
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Journal Article
Novel variant in HDAC8 gene resulting in the severe Cornelia de Lange phenotype
Jezela-Stanek, Aleksandra, Murcia, Pienkowski Victor, Jurkiewicz, Dorota, Iwanicka-Pronicka, Katarzyna, Jędrzejowska, Maria, Krajewska-Walasek, Małgorzata, Płoski, Rafał
Published in Clinical dysmorphology (01.07.2019)
Published in Clinical dysmorphology (01.07.2019)
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Journal Article
Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss
Pollak, Agnieszka, Lechowicz, Urszula, Murcia Pieńkowski, Victor Abel, Stawiński, Piotr, Kosińska, Joanna, Skarżyński, Henryk, Ołdak, Monika, Płoski, Rafał
Published in BMC medical genetics (02.12.2017)
Published in BMC medical genetics (02.12.2017)
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Journal Article
TADeus2: a web server facilitating the clinical diagnosis by pathogenicity assessment of structural variations disarranging 3D chromatin structure
Poszewiecka, Barbara, Pienkowski, Victor Murcia, Nowosad, Karol, Robin, Jérôme D, Gogolewski, Krzysztof, Gambin, Anna
Published in Nucleic acids research (05.07.2022)
Published in Nucleic acids research (05.07.2022)
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Journal Article
827 Streamlining design of safe and effective TCR therapies with AI
Mizera, Mikolaj, Sanecka-Duin, Anna, Jasiński, Maciej, Król, Paulina, Mazzocco, Giovanni, Pieńkowski, Victor Murcia, Myronov, Alexander, Niemiec, Iga, Skoczylas, Piotr, Stachura, Sławomir, Stępniak, Piotr, Wojciechowski, Daniel, Grochowalski, Łukasz, Gniewek, Oskar, Kaczmarczyk, Jan, Blum, Agnieszka
Published in Journal for immunotherapy of cancer (01.11.2021)
Published in Journal for immunotherapy of cancer (01.11.2021)
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Journal Article
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy
Usmani, Muhammad A., Ahmed, Zubair M., Magini, Pamela, Pienkowski, Victor Murcia, Rasmussen, Kristen J., Hernan, Rebecca, Rasheed, Faiza, Hussain, Mureed, Shahzad, Mohsin, Lanpher, Brendan C., Niu, Zhiyv, Lim, Foong-Yen, Pippucci, Tommaso, Ploski, Rafal, Kraus, Verena, Matuszewska, Karolina, Palombo, Flavia, Kianmahd, Jessica, Martinez-Agosto, Julian A., Lee, Hane, Colao, Emma, Motazacker, M. Mahdi, Brigatti, Karlla W., Puffenberger, Erik G., Riazuddin, S. Amer, Gonzaga-Jauregui, Claudia, Chung, Wendy K., Wagner, Matias, Schultz, Matthew J., Seri, Marco, Kievit, Anneke J.A., Perrotti, Nicola, Klein Wassink-Ruiter, J.S., van Bokhoven, Hans, Riazuddin, Sheikh, Riazuddin, Saima
Published in American journal of human genetics (01.07.2021)
Published in American journal of human genetics (01.07.2021)
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Journal Article
Macrocephaly and developmental delay caused by missense variants in RAB5C
Koop, Klaas, Yuan, Weimin, Tessadori, Federico, Rodriguez-Polanco, Wilmer R, Grubbs, Jeremy, Zhang, Bo, Osmond, Matt, Graham, Gail, Sawyer, Sarah, Conboy, Erin, Vetrini, Francesco, Treat, Kayla, Płoski, Rafal, Pienkowski, Victor Murcia, Kłosowska, Anna, Fieg, Elizabeth, Krier, Joel, Mallebranche, Coralie, Alban, Ziegler, Aldinger, Kimberly A, Ritter, Deborah, Macnamara, Ellen, Sullivan, Bonnie, Herriges, John, Alaimo, Joseph T, Helbig, Catherine, Ellis, Colin A, van Eyk, Clare, Gecz, Jozef, Farrugia, Daniel, Osei-Owusu, Ikeoluwa, Adès, Lesley, van den Boogaard, Marie-Jose, Fuchs, Sabine, Bakker, Jeroen, Duran, Karen, Dawson, Zachary D, Lindsey, Anika, Huang, Huiyan, Baldridge, Dustin, Silverman, Gary A, Grant, Barth D, Raizen, David, van Haaften, Gijs, Pak, Stephen C, Rehmann, Holger, Schedl, Tim, van Hasselt, Peter
Published in Human molecular genetics (17.10.2023)
Published in Human molecular genetics (17.10.2023)
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Journal Article
Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked ILAS1L/I Gene
Stembalska, Agnieszka, Rydzanicz, Ma?gorzata, Walas, Wojciech, Gasperowicz, Piotr, Pollak, Agnieszka, Pienkowski, Victor Murcia, Biela, Mateusz, Klaniewska, Magdalena, Gamrot, Zuzanna, Gronska, Ewa, Ploski, Rafal, Smigiel, Robert
Published in Genes (21.04.2022)
Published in Genes (21.04.2022)
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