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Page 1
A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation.
Folia Neuropathol. 2017;55(3):214-220. doi: 10.5114/fn.2017.70486.
Folia Neuropathol. 2017.
PMID: 28984114
Free article.
Review.
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.
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.
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Higher Mutation Burden in High Proliferation Compartments of Heterogeneous Melanoma Tumors.
Grzywa TM, Koppolu AA, Paskal W, Klicka K, Rydzanicz M, Wejman J, Płoski R, Włodarski PK.
Grzywa TM, et al. Among authors: koppolu aa.
Int J Mol Sci. 2021 Apr 9;22(8):3886. doi: 10.3390/ijms22083886.
Int J Mol Sci. 2021.
PMID: 33918692
Free PMC article.
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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: koppolu aa.
Clin Genet. 2018 Oct;94(3-4):381-385. doi: 10.1111/cge.13410. Epub 2018 Aug 2.
Clin Genet. 2018.
PMID: 29938792
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Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders.
Murcia Pienkowski V, Kucharczyk M, Młynek M, Szczałuba K, Rydzanicz M, Poszewiecka B, Skórka A, Sykulski M, Biernacka A, Koppolu AA, Posmyk R, Walczak A, Kosińska J, Krajewski P, Castaneda J, Obersztyn E, Jurkiewicz E, Śmigiel R, Gambin A, Chrzanowska K, Krajewska-Walasek M, Płoski R.
Murcia Pienkowski V, et al.
J Med Genet. 2019 Feb;56(2):104-112. doi: 10.1136/jmedgenet-2018-105527. Epub 2018 Oct 23.
J Med Genet. 2019.
PMID: 30352868
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