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Page 1
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.
Verbinnen I, Douzgou Houge S, Hsieh TC, Lesmann H, Kirchhoff A, Geneviève D, Brimble E, Lenaerts L, Haesen D, Levy RJ, Thevenon J, Faivre L, Marco E, Chong JX, Bamshad M, Patterson K, Mirzaa GM, Foss K, Dobyns W, White SM, Pais L, O'Heir E, Itzikowitz R, Donald KA, Van der Merwe C, Mussa A, Cervini R, Giorgio E, Roscioli T, Dias KR, Evans CA, Brown NJ, Ruiz A, Trujillo Quintero JP, Rabin R, Pappas J, Yuan H, Lachlan K, Thomas S, Devlin A, Wright M, Martin R, Karwowska J, Posmyk R, Chatron N, Stark Z, Heath O, Delatycki M, Buchert R, Korenke GC, Ramsey K, Narayanan V, Grange DK, Weisenberg JL, Haack TB, Karch S, Kipkemoi P, Mangi M, Bindels de Heus KGCB, de Wit MY, Barakat TS, Lim D, Van Winckel G, Spillmann RC, Shashi V, Jacob M, Stehr AM; Undiagnosed Diseases Network; Krawitz P, Douzgos Houge G, Janssens V. Verbinnen I, et al. Among authors: posmyk r. Am J Hum Genet. 2025 Mar 6;112(3):554-571. doi: 10.1016/j.ajhg.2025.01.021. Epub 2025 Feb 19. Am J Hum Genet. 2025. PMID: 39978342
Blood molybdenum level as a marker of cancer risk on BRCA1 carriers.
Matuszczak M, Kiljańczyk A, Marciniak W, Derkacz R, Stempa K, Baszuk P, Bryśkiewicz M, Cybulski C, Dębniak T, Jacek G, Huzarski T, Lener M, Jakubowska A, Pietrzak S, Szwiec M, Stawicka-Niełacna M, Godlewski D, Prusaczyk A, Jasiewicz A, Kluz T, Tomiczek-Szwiec J, Kilar-Kobierzycka E, Siołek M, Posmyk R, Jarkiewicz-Tretyn J, Scott R, Narod S, Lubiński J. Matuszczak M, et al. Among authors: posmyk r. Hered Cancer Clin Pract. 2024 Sep 19;22(1):19. doi: 10.1186/s13053-024-00291-7. Hered Cancer Clin Pract. 2024. PMID: 39300540 Free PMC article.
Antioxidant Properties of Zinc and Copper-Blood Zinc-to Copper-Ratio as a Marker of Cancer Risk BRCA1 Mutation Carriers.
Matuszczak M, Kiljańczyk A, Marciniak W, Derkacz R, Stempa K, Baszuk P, Bryśkiewicz M, Cybulski C, Dębniak T, Gronwald J, Huzarski T, Lener M, Jakubowska A, Szwiec M, Stawicka-Niełacna M, Godlewski D, Prusaczyk A, Jasiewicz A, Kluz T, Tomiczek-Szwiec J, Kilar-Kobierzycka E, Siołek M, Wiśniowski R, Posmyk R, Jarkiewicz-Tretyn J, Scott R, Lubiński J. Matuszczak M, et al. Among authors: posmyk r. Antioxidants (Basel). 2024 Jul 14;13(7):841. doi: 10.3390/antiox13070841. Antioxidants (Basel). 2024. PMID: 39061909 Free PMC article.
Blood Iodine as a Potential Marker of the Risk of Cancer in BRCA1 Carriers.
Kiljańczyk A, Matuszczak M, Marciniak W, Derkacz R, Stempa K, Baszuk P, Bryśkiewicz M, Cybulski C, Dębniak T, Gronwald J, Huzarski T, Lener MR, Jakubowska A, Cheriyan A, Szwiec M, Stawicka-Niełacna M, Godlewski D, Prusaczyk A, Jasiewicz A, Kluz T, Tomiczek-Szwiec J, Kilar-Kobierzycka E, Siołek M, Wiśniowski R, Posmyk R, Jarkiewicz-Tretyn J, Sun P, Scott RJ, Narod SA, Lubiński J. Kiljańczyk A, et al. Among authors: posmyk r. Nutrients. 2024 Jun 6;16(11):1788. doi: 10.3390/nu16111788. Nutrients. 2024. PMID: 38892720 Free PMC article.
Zinc and Its Antioxidant Properties: The Potential Use of Blood Zinc Levels as a Marker of Cancer Risk in BRCA1 Mutation Carriers.
Matuszczak M, Kiljańczyk A, Marciniak W, Derkacz R, Stempa K, Baszuk P, Bryśkiewicz M, Sun P, Cheriyan A, Cybulski C, Dębniak T, Gronwald J, Huzarski T, Lener MR, Jakubowska A, Szwiec M, Stawicka-Niełacna M, Godlewski D, Prusaczyk A, Jasiewicz A, Kluz T, Tomiczek-Szwiec J, Kilar-Kobierzycka E, Siołek M, Wiśniowski R, Posmyk R, Jarkiewicz-Tretyn J, Scott RJ, Narod SA, Lubiński J. Matuszczak M, et al. Among authors: posmyk r. Antioxidants (Basel). 2024 May 16;13(5):609. doi: 10.3390/antiox13050609. Antioxidants (Basel). 2024. PMID: 38790714 Free PMC article.
Blood Lead Level as Marker of Increased Risk of Ovarian Cancer in BRCA1 Carriers.
Kiljańczyk A, Matuszczak M, Marciniak W, Derkacz R, Stempa K, Baszuk P, Bryśkiewicz M, Lubiński K, Cybulski C, Dębniak T, Gronwald J, Huzarski T, Lener MR, Jakubowska A, Szwiec M, Stawicka-Niełacna M, Godlewski D, Prusaczyk A, Jasiewicz A, Kluz T, Tomiczek-Szwiec J, Kilar-Kobierzycka E, Siołek M, Wiśniowski R, Posmyk R, Jarkiewicz-Tretyn J, Sun P, Scott RJ, Narod SA, Lubiński J. Kiljańczyk A, et al. Among authors: posmyk r. Nutrients. 2024 Apr 30;16(9):1370. doi: 10.3390/nu16091370. Nutrients. 2024. PMID: 38732616 Free PMC article.
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Schmetz A, Lüdecke HJ, Surowy H, Sivalingam S, Bruel AL, Caumes R, Charles P, Chatron N, Chrzanowska K, Codina-Solà M, Colson C, Cuscó I, Denommé-Pichon AS, Edery P, Faivre L, Green A, Heide S, Hsieh TC, Hustinx A, Kleinendorst L, Knopp C, Kraft F, Krawitz PM, Lasa-Aranzasti A, Lesca G, López-González V, Maraval J, Mignot C, Neuhann T, Netzer C, Oehl-Jaschkowitz B, Petit F, Philippe C, Posmyk R, Putoux A, Reis A, Sánchez-Soler MJ, Suh J, Tkemaladze T, Tran Mau Them F, Travessa A, Trujillano L, Valenzuela I, van Haelst MM, Vasileiou G, Vincent-Delorme C, Walther M, Verde P, Bramswig NC, Wieczorek D. Schmetz A, et al. Among authors: posmyk r. Hum Genet. 2024 Jan;143(1):71-84. doi: 10.1007/s00439-023-02622-5. Epub 2023 Dec 20. Hum Genet. 2024. PMID: 38117302
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.
Leonardi E, Aspromonte MC, Drongitis D, Bettella E, Verrillo L, Polli R, McEntagart M, Licchetta L, Dilena R, D'Arrigo S, Ciaccio C, Esposito S, Leuzzi V, Torella A, Baldo D, Lonardo F, Bonato G, Pellegrin S, Stanzial F, Posmyk R, Kaczorowska E, Carecchio M, Gos M, Rzońca-Niewczas S, Miano MG, Murgia A. Leonardi E, et al. Among authors: posmyk r. Eur J Hum Genet. 2023 Feb;31(2):202-215. doi: 10.1038/s41431-022-01233-4. Epub 2022 Nov 25. Eur J Hum Genet. 2023. PMID: 36434256 Free PMC article.
Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.
Dawidziuk M, Gambin T, Bukowska-Olech E, Antczak-Marach D, Badura-Stronka M, Buda P, Budzynska E, Castaneda J, Chilarska T, Czyzyk E, Eckersdorf-Mastalerz A, Fijak-Moskal J, Gieruszczak-Bialek D, Glodek-Brzozowska E, Goszczanska-Ciuchta A, Grzeszykowska-Podymniak M, Gurda B, Jakubiuk-Tomaszuk A, Jamroz E, Janeczko M, Jedlińska-Pijanowska D, Jurek M, Karolewska D, Kazmierczak A, Kleist T, Kochanowska I, Krajewska-Walasek M, Kufel K, Kutkowska-Kaźmierczak A, Lipiec A, Maksym-Gasiorek D, Materna-Kiryluk A, Mazurkiewicz H, Milewski M, Pavina-Guglas T, Pietrzyk A, Posmyk R, Pyrkosz A, Rudzka-Dybala M, Slezak R, Wisniewska M, Zalewska-Miszkurka Z, Szczepanik E, Obersztyn E, Bekiesinska-Figatowska M, Gawlinski P, Wiszniewski W. Dawidziuk M, et al. Among authors: posmyk r. Genes (Basel). 2021 Dec 18;12(12):2014. doi: 10.3390/genes12122014. Genes (Basel). 2021. PMID: 34946966 Free PMC article.
Variants of Novel Immunomodulatory Fc Receptor Like 5 Gene Are Associated With Multiple Sclerosis Susceptibility in the Polish Population.
Chorazy M, Wawrusiewicz-Kurylonek N, Adamska-Patruno E, Czarnowska A, Zajkowska O, Kapica-Topczewska K, Posmyk R, Kretowski AJ, Kochanowicz J, Kułakowska A. Chorazy M, et al. Among authors: posmyk r. Front Neurol. 2021 Apr 6;12:631134. doi: 10.3389/fneur.2021.631134. eCollection 2021. Front Neurol. 2021. PMID: 33889124 Free PMC article.
40 results