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De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Usmani MA, Ahmed ZM, Magini P, Pienkowski VM, Rasmussen KJ, Hernan R, Rasheed F, Hussain M, Shahzad M, Lanpher BC, Niu Z, Lim FY, Pippucci T, Ploski R, Kraus V, Matuszewska K, Palombo F, Kianmahd J; UCLA Clinical Genomics Center; Martinez-Agosto JA, Lee H, Colao E, Motazacker MM, Brigatti KW, Puffenberger EG, Riazuddin SA, Gonzaga-Jauregui C, Chung WK, Wagner M, Schultz MJ, Seri M, Kievit AJA, Perrotti N, Wassink-Ruiter JSK, van Bokhoven H, Riazuddin S, Riazuddin S. Usmani MA, et al. Among authors: matuszewska k. Am J Hum Genet. 2021 Jul 1;108(7):1330-1341. doi: 10.1016/j.ajhg.2021.05.007. Epub 2021 Jun 7. Am J Hum Genet. 2021. PMID: 34102099 Free PMC article.
Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype.
Murcia Pienkowski V, Kucharczyk M, Rydzanicz M, Poszewiecka B, Pachota K, Młynek M, Stawiński P, Pollak A, Kosińska J, Wojciechowska K, Lejman M, Cieślikowska A, Wicher D, Stembalska A, Matuszewska K, Materna-Kiryluk A, Gambin A, Chrzanowska K, Krajewska-Walasek M, Płoski R. Murcia Pienkowski V, et al. Among authors: matuszewska k. J Clin Med. 2020 Apr 25;9(5):1245. doi: 10.3390/jcm9051245. J Clin Med. 2020. PMID: 32344861 Free PMC article.
The pZRS non-coding regulatory mutation resulting in triphalangeal thumb-polysyndactyly syndrome changes the pattern of local interactions.
Potuijt JWP, Sowinska-Seidler A, Bukowska-Olech E, Nguyen P, Jankowski A, Magielsen F, Matuszewska K, van Nieuwenhoven CA, Galjaard RH, de Klein A, Jamsheer A. Potuijt JWP, et al. Among authors: matuszewska k. Mol Genet Genomics. 2022 Sep;297(5):1343-1352. doi: 10.1007/s00438-022-01921-2. Epub 2022 Jul 11. Mol Genet Genomics. 2022. PMID: 35821352
Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects.
Bukowska-Olech E, Sowińska-Seidler A, Larysz D, Gawliński P, Koczyk G, Popiel D, Gurba-Bryśkiewicz L, Materna-Kiryluk A, Adamek Z, Szczepankiewicz A, Dominiak P, Glista F, Matuszewska K, Jamsheer A. Bukowska-Olech E, et al. Among authors: matuszewska k. Front Mol Biosci. 2022 Apr 28;9:865494. doi: 10.3389/fmolb.2022.865494. eCollection 2022. Front Mol Biosci. 2022. PMID: 35591945 Free PMC article.
Muscle weakness and mitochondrial stress occur before metastasis in a novel mouse model of ovarian cancer cachexia.
Delfinis LJ, Ogilvie LM, Khajehzadehshoushtar S, Gandhi S, Garibotti MC, Thuhan AK, Matuszewska K, Pereira M, Jones RG 3rd, Cheng AJ, Hawke TJ, Greene NP, Murach KA, Simpson JA, Petrik J, Perry CGR. Delfinis LJ, et al. Among authors: matuszewska k. bioRxiv [Preprint]. 2024 Apr 8:2024.04.08.588639. doi: 10.1101/2024.04.08.588639. bioRxiv. 2024. PMID: 38645227 Free PMC article. Preprint.
Kinetic analysis of oncolytic OrfV-induced innate and adaptive immune responses in a murine model of late-stage ovarian cancer.
Minott JA, van Vloten JP, Yates JGE, Santry LA, Matuszewska K, Pereira M, Goens MM, Viloria-Petit AM, Wood GA, Karimi K, Petrik JJ, Bridle BW, Wootton SK. Minott JA, et al. Among authors: matuszewska k. Mol Ther Oncolytics. 2023 Nov 10;31:100748. doi: 10.1016/j.omto.2023.100748. eCollection 2023 Dec 19. Mol Ther Oncolytics. 2023. PMID: 38075247 Free PMC article.
Comparative analysis of syngeneic mouse models of high-grade serous ovarian cancer.
Cook DP, Galpin KJC, Rodriguez GM, Shakfa N, Wilson-Sanchez J, Echaibi M, Pereira M, Matuszewska K, Haagsma J, Murshed H, Cudmore AO, MacDonald E, Tone A, Shepherd TG, Petrik JJ, Koti M, Vanderhyden BC. Cook DP, et al. Among authors: matuszewska k. Commun Biol. 2023 Nov 13;6(1):1152. doi: 10.1038/s42003-023-05529-z. Commun Biol. 2023. PMID: 37957414 Free PMC article.
32 results