Sylwia Rzonca-Niewczas (Sylwia Rzońca-Niewczas, Sylwia Rzonca, Sylwia Olimpia Rzońca-Niewczas)

Publication Activity (10 Years)

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

Top Topics

Transcription Factor

Intellectual Disability

Top Venues

Journal of mother and child

European journal of human genetics : EJHG

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

Publications

Valery Zayat, Zuzanna Kuczynska, Michal Liput, Erkan Metin, Sylwia Rzonca-Niewczas, Marta Smyk, Tomasz Mazurczak, Alicja Goszczanska-Ciuchta, Pawel Leszczynski, Dorota Hoffman-Zacharska, Leonora Buzanska
The Generation of Human iPSC Lines from Three Individuals with Dravet Syndrome and Characterization of Neural Differentiation Markers in iPSC-Derived Ventral Forebrain Organoid Model. Cells 12 (2) (2023)
Valery Zayat, Zuzanna Kuczynska, Michal Liput, Erkan Metin, Sylwia Rzonca-Niewczas, Marta Smyk, Tomasz Mazurczak, Alicja Goszczanska-Ciuchta, Pawel Leszczynski, Dorota Hoffman-Zacharska, Leonora Buzanska
The Generation of Human iPSC Lines from Three Individuals with Dravet Syndrome and Characterization of Neural Differentiation Markers in iPSC-Derived Ventral Forebrain Organoid Model. Cells 12 (2) (2023)
Valery Zayat, Zuzanna Kuczynska, Michal Liput, Erkan Metin, Sylwia Rzonca-Niewczas, Marta Smyk, Tomasz Mazurczak, Alicja Goszczanska-Ciuchta, Pawel Leszczynski, Dorota Hoffman-Zacharska, Leonora Buzanska
The Generation of Human iPSC Lines from Three Individuals with Dravet Syndrome and Characterization of Neural Differentiation Markers in iPSC-Derived Ventral Forebrain Organoid Model. Cells 12 (2) (2023)
Valery Zayat, Zuzanna Kuczynska, Michal Liput, Erkan Metin, Sylwia Rzonca-Niewczas, Marta Smyk, Tomasz Mazurczak, Alicja Goszczanska-Ciuchta, Pawel Leszczynski, Dorota Hoffman-Zacharska, Leonora Buzanska
The Generation of Human iPSC Lines from Three Individuals with Dravet Syndrome and Characterization of Neural Differentiation Markers in iPSC-Derived Ventral Forebrain Organoid Model. Cells 12 (2) (2023)
Emanuela Leonardi, Maria Cristina Aspromonte, Denise Drongitis, Elisa Bettella, Lucia Verrillo, Roberta Polli, Meriel McEntagart, Laura Licchetta, Robertino Dilena, Stefano D'Arrigo, Claudia Ciaccio, Silvia Esposito, Vincenzo Leuzzi, Annalaura Torella, Demetrio Baldo, Fortunato Lonardo, Giulia Bonato, Serena Pellegrin, Franco Stanzial, Renata Posmyk, Ewa Kaczorowska, Miryam Carecchio, Monika Gos, Sylwia Rzonca-Niewczas, Maria Giuseppina Miano, Alessandra Murgia
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants. European journal of human genetics : EJHG (2022)
Lukasz M Milanowski, Xu Hou, Jenny M Bredenberg, Fabienne C Fiesel, Liam T Cocker, Alexandra I Soto-Beasley, Ronald L Walton, Audrey J Strongosky, Ayman H Faroqi, Maria Barcikowska, Magdalena Boczarska-Jedynak, Jarosław Dulski, Lyuda Fedoryshyn, Piotr Janik, Anna Potulska-Chromik, Katherine Karpinsky, Anna Krygowska-Wajs, Tim Lynch, Diana A Olszewska, Grzegorz Opala, Aleksander Pulyk, Irena Rektorova, Yanosh Sanotsky, Joanna Siuda, Mariusz Widlak, Jaroslaw Slawek, Monika Rudzinska Bar, Ryan Uitti, Monika Figura, Stanislaw Szlufik, Sylwia Rzonca-Niewczas, Elzbieta Podgorska, Pamela J McLean, Dariusz Koziorowski, Owen A Ross, Dorota Hoffman-Zacharska, Wolfdieter Springer, Zbigniew K Wszolek
Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis. International journal of molecular sciences 23 (13) (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)
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)
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)
Joanna Oświęcimska, Mateusz Dawidziuk, Tomasz Gambin, Katarzyna Ziora, Marta Marek, Sylwia Rzonca-Niewczas, D. Lys Guilbride, Shalini N. Jhangiani, Anna Obuchowicz, Alicja Sikora, James R. Lupski, Wojciech Wiszniewski, Paweł Gawliński
A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy Journal of clinical research in pediatric endocrinology 11 (3) (2018)