Frequency of thrombophilia associated genes variants: population-based study

by Wawrusiewicz-Kurylonek, Natalia, Krętowski, Adam Jacek, Posmyk, Renata
Published in BMC Med Genet (2020)

Pharmacogenomics, How to Deal with Different Types of Variants in Next Generation Sequencing Data in the Personalized Medicine Area

by Tafazoli, Alireza, Wawrusiewicz-Kurylonek, Natalia, Posmyk, Renata, Miltyk, Wojciech
Published in J Clin Med (2020)

Salivary Gland Function, Antioxidant Defence and Oxidative Damage in the Saliva of Patients with Breast Cancer: Does the BRCA1 Mutation Disturb the Salivary Redox Profile?

by Sawczuk, Beata, Maciejczyk, Mateusz, Sawczuk-Siemieniuk, Magdalena, Posmyk, Renata, Zalewska, Anna, Car, Halina
Published in Cancers (Basel) (2019)

Breast cancer in an 18-year-old female: A fatal case report and literature review

by Jóźwik, Maciej, Posmyk, Renata, Jóźwik, Marcin, Semczuk, Andrzej, Gogiel-Shields, Magdalena, Kuś-Słowińska, Marta, Garbowicz, Magdalena, Klukowski, Mark, Wojciechowicz, Jacek
Published in Cancer Biol Ther (2018)

The FOXP3 rs3761547 Gene Polymorphism in Multiple Sclerosis as a Male-Specific Risk Factor

by Wawrusiewicz-Kurylonek, Natalia, Chorąży, Monika, Posmyk, Renata, Zajkowska, Olga, Zajkowska, Agata, Krętowski, Adam Jacek, Tarasiuk, Joanna, Kochanowicz, Jan, Kułakowska, Alina
Published in Neuromolecular Med (2018)

Some Common SNPs of the T-Cell Homeostasis-Related Genes Are Associated with Multiple Sclerosis, but Not with the Clinical Manifestations of the Disease, in the Polish Population

by Chorąży, Monika, Wawrusiewicz-Kurylonek, Natalia, Adamska-Patruno, Edyta, Zajkowska, Olga, Kapica-Topczewska, Katarzyna, Posmyk, Renata, Krętowski, Adam Jacek, Kochanowicz, Jan, Kułakowska, Alina
Published in J Immunol Res (2020)

Variants of Novel Immunomodulatory Fc Receptor Like 5 Gene Are Associated With Multiple Sclerosis Susceptibility in the Polish Population

by Chorazy, Monika, Wawrusiewicz-Kurylonek, Natalia, Adamska-Patruno, Edyta, Czarnowska, Agata, Zajkowska, Olga, Kapica-Topczewska, Katarzyna, Posmyk, Renata, Kretowski, Adam Jacek, Kochanowicz, Jan, Kułakowska, Alina
Published in Front Neurol (2021)

Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects

by Filatova, Alina, Rey, Linda K., Lechler, Marion B., Schaper, Jörg, Hempel, Maja, Posmyk, Renata, Szczaluba, Krzysztof, Santen, Gijs W. E., Wieczorek, Dagmar, Nuber, Ulrike A.
Published in Nat Commun (2019)

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

by Walczak-Sztulpa, Joanna, Posmyk, Renata, Bukowska-Olech, Ewelina M., Wawrocka, Anna, Jamsheer, Aleksander, Oud, Machteld M., Schmidts, Miriam, Arts, Heleen H., Latos-Bielenska, Anna, Wasilewska, Anna
Published in Orphanet J Rare Dis (2020)

PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies

by Gawlinski, Pawel, Posmyk, Renata, Gambin, Tomasz, Sielicka, Danuta, Chorazy, Monika, Nowakowska, Beata, Jhangiani, Shalini N., Muzny, Donna M., Bekiesinska-Figatowska, Monika, Bal, Jerzy, Boerwinkle, Eric, Gibbs, Richard A., Lupski, James R., Wiszniewski, Wojciech
Published in Pediatr Neurol (2016)

Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans

by Liegel, Ryan P., Handley, Mark T., Ronchetti, Adam, Brown, Stephen, Langemeyer, Lars, Linford, Andrea, Chang, Bo, Morris-Rosendahl, Deborah J., Carpanini, Sarah, Posmyk, Renata, Harthill, Verity, Sheridan, Eamonn, Abdel-Salam, Ghada M.H., Terhal, Paulien A., Faravelli, Francesca, Accorsi, Patrizia, Giordano, Lucio, Pinelli, Lorenzo, Hartmann, Britta, Ebert, Allison D., Barr, Francis A., Aligianis, Irene A., Sidjanin, Duska J.
Published 2013

Primrose syndrome: Characterization of the phenotype in 42 patients

by Melis, Daniela, Carvalho, Daniel, Barbaro‐Dieber, Tina, Espay, Alberto J., Gambello, Michael J., Gener, Blanca, Gerkes, Erica, Hitzert, Marrit M., Hove, Hanne B., Jansen, Sandra, Jira, Petr E., Lachlan, Katherine, Menke, Leonie A., Narayanan, Vinodh, Ortiz, Damara, Overwater, Eline, Posmyk, Renata, Ramsey, Keri, Rossi, Alessandro, Sandoval, Renata Lazari, Stumpel, Constance, Stuurman, Kyra E., Cordeddu, Viviana, Turnpenny, Peter, Strisciuglio, Pietro, Tartaglia, Marco, Unger, Sheela, Waters, Todd, Turnbull, Clare, Hennekam, Raoul C.
Published in Clin Genet (2020)

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects

by Yokote, Koutaro, Chanprasert, Sirisak, Lee, Lin, Eirich, Katharina, Takemoto, Minoru, Watanabe, Aki, Koizumi, Naoko, Lessel, Davor, Mori, Takayasu, Hisama, Fuki M., Ladd, Paula D., Angle, Brad, Baris, Hagit, Cefle, Kivanc, Palanduz, Sukru, Ozturk, Sukru, Chateau, Antoinette, Deguchi, Kentaro, Easwar, T.K.M, Federico, Antonio, Fox, Amy, Grebe, Theresa A., Hay, Beverly, Nampoothiri, Sheela, Seiter, Karen, Streeten, Elizabeth, Piña-Aguilar, Raul E., Poke, Gemma, Poot, Martin, Posmyk, Renata, Martin, George M., Kubisch, Christian, Schindler, Detlev, Oshima, Junko
Published in Hum Mutat (2016)

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

by Tatton-Brown, Katrina, Zachariou, Anna, Loveday, Chey, Renwick, Anthony, Mahamdallie, Shazia, Aksglaede, Lise, Baralle, Diana, Barge-Schaapveld, Daniela, Blyth, Moira, Bouma, Mieke, Breckpot, Jeroen, Crabb, Beau, Dabir, Tabib, Cormier-Daire, Valerie, Fauth, Christine, Fisher, Richard, Gener, Blanca, Goudie, David, Homfray, Tessa, Hunter, Matthew, Jorgensen, Agnete, Kant, Sarina G., Kirally-Borri, Cathy, Koolen, David, Kumar, Ajith, Labilloy, Anatalia, Lees, Melissa, Marcelis, Carlo, Mercer, Catherine, Mignot, Cyril, Miller, Kathryn, Neas, Katherine, Newbury-Ecob, Ruth, Pilz, Daniela T., Posmyk, Renata, Prada, Carlos, Ramsey, Keri, Randolph, Linda M., Selicorni, Angelo, Shears, Deborah, Suri, Mohnish, Temple, I. Karen, Turnpenny, Peter, Van Maldergem, Lionel, Varghese, Vinod, Veenstra-Knol, Hermine E., Yachelevich, Naomi, Yates, Laura, Rahman, Nazneen
Published in Wellcome Open Res (2018)