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Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1-Related Myopathy.
Janßen S, Erbe LS, Kneifel M, Vorgerd M, Döring K, Lubieniecki KP, Lubieniecka JM, Gerding WM, Casadei N, Güttsches AK, Heyer C, Lücke T, Nguyen HHP, Köhler C, Hoffjan S. Janßen S, et al. Among authors: lubieniecki kp. Int J Mol Sci. 2024 Oct 9;25(19):10867. doi: 10.3390/ijms251910867. Int J Mol Sci. 2024. PMID: 39409197 Free PMC article.
Broad genomic workup including optical genome mapping uncovers a DDX3X: MLLT10 gene fusion in acute myeloid leukemia.
Nilius-Eliliwi V, Tembrink M, Gerding WM, Lubieniecki KP, Lubieniecka JM, Kankel S, Liehr T, Mika T, Dimopoulos F, Döhner K, Schroers R, Nguyen HHP, Vangala DB. Nilius-Eliliwi V, et al. Among authors: lubieniecki kp. Front Oncol. 2022 Sep 9;12:959243. doi: 10.3389/fonc.2022.959243. eCollection 2022. Front Oncol. 2022. PMID: 36158701 Free PMC article.
Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets.
Cherukuri PF, Soe MM, Condon DE, Bartaria S, Meis K, Gu S, Frost FG, Fricke LM, Lubieniecki KP, Lubieniecka JM, Pyatt RE, Hajek C, Boerkoel CF, Carmichael L. Cherukuri PF, et al. Among authors: lubieniecki kp. BMC Med Genomics. 2022 Mar 14;15(1):56. doi: 10.1186/s12920-022-01199-8. BMC Med Genomics. 2022. PMID: 35287663 Free PMC article.
Evidence for multiple sex-determining loci in Tasmanian Atlantic salmon (Salmo salar).
Eisbrenner WD, Botwright N, Cook M, Davidson EA, Dominik S, Elliott NG, Henshall J, Jones SL, Kube PD, Lubieniecki KP, Peng S, Davidson WS. Eisbrenner WD, et al. Among authors: lubieniecki kp. Heredity (Edinb). 2014 Jul;113(1):86-92. doi: 10.1038/hdy.2013.55. Epub 2013 Jun 12. Heredity (Edinb). 2014. PMID: 23759729 Free PMC article.
25 results