Malgorzata Rydzanicz (Małgorzata Rydzanicz)

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 24

Top Topics

Bacillus Subtilis

Genome Wide Analysis

Polycystic Kidney Disease

Top Venues

Molecular genetics & genomic medicine

American journal of medical genetics. Part A

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

Publications

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)
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)
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)
Anna Balcerak, Ewelina Macech-Klicka, Maciej Wakula, Rafal Tomecki, Krzysztof Goryca, Malgorzata Rydzanicz, Mateusz Chmielarczyk, Malgorzata Szostakowska-Rodzos, Marta Wisniewska, Filip Lyczek, Aleksandra Helwak, David Tollervey, Grzegorz Kudla, Ewa A Grzybowska
The RNA-Binding Landscape of HAX1 Protein Indicates Its Involvement in Translation and Ribosome Assembly. Cells 11 (19) (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)
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)
Agnieszka Koppolu, Radosław B Maksym, Wiktor Paskal, Marcin Machnicki, Beata Rak, Monika Pępek, Filip Garbicz, Kacper Pełka, Zofia Kuśmierczyk, Joanna Jacko, Malgorzata Rydzanicz, Magdalena Banach-Orłowska, Stokłosa Tomasz, Rafał Płoski, Jacek Malejczyk, Paweł K Włodarski
Epithelial Cells of Deep Infiltrating Endometriosis Harbor Mutations in Cancer Driver Genes. Cells 10 (4) (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)
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)
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)
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)
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)
Magdalena Dagmara Machnikowska-Sokołowska, Jacek Pilch, Justyna Paprocka, Malgorzata Rydzanicz, Agnieszka Pollak, Joanna Kosińska, Piotr Gasperowicz, Katarzyna Gruszczyńska, Ewa Emich-Widera, Rafał Płoski
Leukoencephalopathy with Calcifications and Cysts-The First Polish Patient with Labrune Syndrome. Brain sciences 10 (11) (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)
Justyna A Karolak, Barbara Ginter-Matuszewska, Katarzyna Tomela, Michal Kabza, Dorota M Nowak-Malczewska, Malgorzata Rydzanicz, Piotr Polakowski, Jacek P Szaflik, Marzena Gajecka
Further evaluation of differential expression of keratoconus candidate genes in human corneas. 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)
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)
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)