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2017 1
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2020 3
2021 4
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21 results

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Page 1
Macrocephaly and developmental delay caused by missense variants in RAB5C.
Koop K, Yuan W, Tessadori F, Rodriguez-Polanco WR, Grubbs J, Zhang B, Osmond M, Graham G, Sawyer S, Conboy E, Vetrini F, Treat K, Płoski R, Pienkowski VM, Kłosowska A, Fieg E, Krier J, Mallebranche C, Alban Z, Aldinger KA, Ritter D, Macnamara E, Sullivan B, Herriges J, Alaimo JT, Helbig C, Ellis CA, van Eyk C, Gecz J, Farrugia D, Osei-Owusu I, Adès L, van den Boogaard MJ, Fuchs S, Bakker J, Duran K, Dawson ZD, Lindsey A, Huang H, Baldridge D, Silverman GA, Grant BD, Raizen D; Undiagnosed Diseases Network; van Haaften G, Pak SC, Rehmann H, Schedl T, van Hasselt P. Koop K, et al. Among authors: pienkowski vm. Hum Mol Genet. 2023 Oct 17;32(21):3063-3077. doi: 10.1093/hmg/ddad130. Hum Mol Genet. 2023. PMID: 37552066 Free PMC article.
Cryptic MYC insertions in Burkitt lymphoma: New data and a review of the literature.
Woroniecka R, Rymkiewicz G, Szafron LM, Blachnio K, Szafron LA, Bystydzienski Z, Pienkowska-Grela B, Borkowska K, Rygier J, Kotyl A, Malawska N, Wojtkowska K, Parada J, Borysiuk A, Murcia Pienkowski V, Rydzanicz M, Grygalewicz B. Woroniecka R, et al. Among authors: murcia pienkowski v. PLoS One. 2022 Feb 15;17(2):e0263980. doi: 10.1371/journal.pone.0263980. eCollection 2022. PLoS One. 2022. PMID: 35167621 Free PMC article. Review.
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: pienkowski vm. 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.
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy.
Riedhammer KM, Stockler S, Ploski R, Wenzel M, Adis-Dutschmann B, Ahting U, Alhaddad B, Blaschek A, Haack TB, Kopajtich R, Lee J, Murcia Pienkowski V, Pollak A, Szymanska K, Tarailo-Graovac M, van der Lee R, van Karnebeek CD, Meitinger T, Krägeloh-Mann I, Vill K. Riedhammer KM, et al. Among authors: murcia pienkowski v. Brain. 2021 Mar 3;144(2):411-419. doi: 10.1093/brain/awaa410. Brain. 2021. PMID: 33313762 Free PMC article.
Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome.
Smigiel R, Biernacka A, Biela M, Murcia-Pienkowski V, Szmida E, Gasperowicz P, Kosinska J, Kostrzewa G, Koppolu AA, Walczak A, Wawrzuta D, Rydzanicz M, Sasiadek M, Ploski R. Smigiel R, et al. Among authors: murcia pienkowski v. J Hum Genet. 2018 Apr;63(4):517-520. doi: 10.1038/s10038-017-0391-x. Epub 2018 Feb 6. J Hum Genet. 2018. PMID: 29410511 Review.
Answer to Finsterer about "Multisystem presentation of a homozygous POLG2 variant".
Dosekova P, Dubiel A, Karlowicz A, Zietkiewicz S, Rydzanicz M, Habalova V, Pienkowski VM, Skirkova M, Han V, Mosejova A, Gdovinova Z, Kaliszewska M, Tońska K, Szymanski MR, Skorvanek M, Ploski R. Dosekova P, et al. Among authors: pienkowski vm. Eur J Med Genet. 2020 May;63(5):103900. doi: 10.1016/j.ejmg.2020.103900. Epub 2020 Mar 9. Eur J Med Genet. 2020. PMID: 32165262 No abstract available.
Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation.
Pilch J, Koppolu AA, Walczak A, Murcia Pienkowski VA, Biernacka A, Skiba P, Machnik-Broncel J, Gasperowicz P, Kosińska J, Rydzanicz M, Emich-Widera E, Płoski R. Pilch J, et al. Among authors: murcia pienkowski va. Clin Genet. 2018 Oct;94(3-4):381-385. doi: 10.1111/cge.13410. Epub 2018 Aug 2. Clin Genet. 2018. PMID: 29938792
21 results