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Page 1
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: lubieniecka jm. Int J Mol Sci. 2024 Oct 9;25(19):10867. doi: 10.3390/ijms251910867. Int J Mol Sci. 2024. PMID: 39409197 Free PMC article.
Comparison of the ABC and ACMG systems for variant classification.
Houge G, Bratland E, Aukrust I, Tveten K, Žukauskaitė G, Sansovic I, Brea-Fernández AJ, Mayer K, Paakkola T, McKenna C, Wright W, Markovic MK, Lildballe DL, Konecny M, Smol T, Alhopuro P, Gouttenoire EA, Obeid K, Todorova A, Jankovic M, Lubieniecka JM, Stojiljkovic M, Buisine MP, Haukanes BI, Lorans M, Roomere H, Petit FM, Haanpää MK, Beneteau C, Pérez B, Plaseska-Karanfilska D, Rath M, Fuhrmann N, Ferreira BI, Stephanou C, Sjursen W, Maver A, Rouzier C, Chirita-Emandi A, Gonçalves J, Kuek WCD, Broly M, Haer-Wigman L, Thong MK, Tae SK, Hyblova M, den Dunnen JT, Laner A. Houge G, et al. Among authors: lubieniecka jm. Eur J Hum Genet. 2024 Jul;32(7):858-863. doi: 10.1038/s41431-024-01617-8. Epub 2024 May 22. Eur J Hum Genet. 2024. PMID: 38778080 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: lubieniecka jm. 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: lubieniecka jm. 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.
S100A12 Serum Levels and PMN Counts Are Elevated in Childhood Systemic Vasculitides Especially Involving Proteinase 3 Specific Anti-neutrophil Cytoplasmic Antibodies.
Brown KL, Lubieniecka JM, Armaroli G, Kessel K, Gibson KM, Graham J, Liu D, Hancock REW, Ross CJ, Benseler SM, Luqmani RA, Cabral DA, Foell D, Kessel C. Brown KL, et al. Among authors: lubieniecka jm. Front Pediatr. 2018 Nov 23;6:341. doi: 10.3389/fped.2018.00341. eCollection 2018. Front Pediatr. 2018. PMID: 30533405 Free PMC article.
Clinical practice variation and need for pediatric-specific treatment guidelines among rheumatologists caring for children with ANCA-associated vasculitis: an international clinician survey.
Westwell-Roper C, Lubieniecka JM, Brown KL, Morishita KA, Mammen C, Wagner-Weiner L, Yen E, Li SC, O'Neil KM, Lapidus SK, Brogan P, Cimaz R, Cabral DA; for ARChiVe Investigators Network within the PedVas initiative. Westwell-Roper C, et al. Among authors: lubieniecka jm. Pediatr Rheumatol Online J. 2017 Aug 7;15(1):61. doi: 10.1186/s12969-017-0191-z. Pediatr Rheumatol Online J. 2017. PMID: 28784150 Free PMC article.
Early Outcomes in Children With Antineutrophil Cytoplasmic Antibody-Associated Vasculitis.
Morishita KA, Moorthy LN, Lubieniecka JM, Twilt M, Yeung RSM, Toth MB, Shenoi S, Ristic G, Nielsen SM, Luqmani RA, Li SC, Lee T, Lawson EF, Kostik MM, Klein-Gitelman M, Huber AM, Hersh AO, Foell D, Elder ME, Eberhard BA, Dancey P, Charuvanij S, Benseler SM, Cabral DA; ARChiVe Investigators Network within the PedVas Initiative. Morishita KA, et al. Among authors: lubieniecka jm. Arthritis Rheumatol. 2017 Jul;69(7):1470-1479. doi: 10.1002/art.40112. Epub 2017 Jun 9. Arthritis Rheumatol. 2017. PMID: 28371513
Comparing Presenting Clinical Features in 48 Children With Microscopic Polyangiitis to 183 Children Who Have Granulomatosis With Polyangiitis (Wegener's): An ARChiVe Cohort Study.
Cabral DA, Canter DL, Muscal E, Nanda K, Wahezi DM, Spalding SJ, Twilt M, Benseler SM, Campillo S, Charuvanij S, Dancey P, Eberhard BA, Elder ME, Hersh A, Higgins GC, Huber AM, Khubchandani R, Kim S, Klein-Gitelman M, Kostik MM, Lawson EF, Lee T, Lubieniecka JM, McCurdy D, Moorthy LN, Morishita KA, Nielsen SM, O'Neil KM, Reiff A, Ristic G, Robinson AB, Sarmiento A, Shenoi S, Toth MB, Van Mater HA, Wagner-Weiner L, Weiss JE, White AJ, Yeung RS; ARChiVe Investigators Network within the PedVas Initiative. Cabral DA, et al. Among authors: lubieniecka jm. Arthritis Rheumatol. 2016 Oct;68(10):2514-26. doi: 10.1002/art.39729. Arthritis Rheumatol. 2016. PMID: 27111558 Free article.
20 results