Works by Lubieniecka, Joanna

Results: 11
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    2

    Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets.

    Published in:
    BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01199-8
    By:
    • Cherukuri, Praveen F.;
    • Soe, Melissa M.;
    • Condon, David E.;
    • Bartaria, Shubhi;
    • Meis, Kaitlynn;
    • Gu, Shaopeng;
    • Frost, Frederick G.;
    • Fricke, Lindsay M.;
    • Lubieniecki, Krzysztof P.;
    • Lubieniecka, Joanna M.;
    • Pyatt, Robert E.;
    • Hajek, Catherine;
    • Boerkoel, Cornelius F.;
    • Carmichael, Lynn
    Publication type:
    Article
    3
    4

    Clinical practice variation and need for pediatric-specific treatment guidelines among rheumatologists caring for children with ANCA-associated vasculitis: an international clinician survey.

    Published in:
    Pediatric Rheumatology, 2017, v. 15, p. 1, doi. 10.1186/s12969-017-0191-z
    By:
    • Westwell-Roper, Clara;
    • Lubieniecka, Joanna M.;
    • Brown, Kelly L.;
    • Morishita, Kimberly A.;
    • Mammen, Cherry;
    • Wagner-Weiner, Linda;
    • Yen, Eric;
    • Li, Suzanne C.;
    • O'Neil, Kathleen M.;
    • Lapidus, Sivia K.;
    • Brogan, Paul;
    • Cimaz, Rolando;
    • Cabral, David A.
    Publication type:
    Article
    5

    Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1 -Related Myopathy.

    Published in:
    International Journal of Molecular Sciences, 2024, v. 25, n. 19, p. 10867, doi. 10.3390/ijms251910867
    By:
    • Janßen, Sören;
    • Erbe, Leoni S.;
    • Kneifel, Moritz;
    • Vorgerd, Matthias;
    • Döring, Kristina;
    • Lubieniecki, Krzysztof P.;
    • Lubieniecka, Joanna M.;
    • Gerding, Wanda M.;
    • Casadei, Nicolas;
    • Güttsches, Anne-Katrin;
    • Heyer, Christoph;
    • Lücke, Thomas;
    • Nguyen, Hoa Huu Phuc;
    • Köhler, Cornelia;
    • Hoffjan, Sabine
    Publication type:
    Article
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    8

    Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression.

    Published in:
    Human Molecular Genetics, 2012, v. 21, n. 11, p. 2572, doi. 10.1093/hmg/dds083
    By:
    • Baradaran-Heravi, Alireza;
    • Cho, Kyoung Sang;
    • Tolhuis, Bas;
    • Sanyal, Mrinmoy;
    • Morozova, Olena;
    • Morimoto, Marie;
    • Elizondo, Leah I.;
    • Bridgewater, Darren;
    • Lubieniecka, Joanna;
    • Beirnes, Kimberly;
    • Myung, Clara;
    • Leung, Danny;
    • Fam, Hok Khim;
    • Choi, Kunho;
    • Huang, Yan;
    • Dionis, Kira Y.;
    • Zonana, Jonathan;
    • Keller, Kory;
    • Stenzel, Peter;
    • Mayfield, Christy
    Publication type:
    Article
    9
    10

    SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2204, doi. 10.1002/ajmg.a.35532
    By:
    • Baradaran-Heravi, Alireza;
    • Raams, Anja;
    • Lubieniecka, Joanna;
    • Cho, Kyoung Sang;
    • DeHaai, Kristi A.;
    • Basiratnia, Mitra;
    • Mari, Pierre-Olivier;
    • Xue, Yutong;
    • Rauth, Michael;
    • Olney, Ann Haskins;
    • Shago, Mary;
    • Choi, Kunho;
    • Weksberg, Rosanna A.;
    • Nowaczyk, Malgorzata J.M.;
    • Wang, Weidong;
    • Jaspers, Nicolaas G.J.;
    • Boerkoel, Cornelius F.
    Publication type:
    Article
    11

    Early Outcomes in Children With Antineutrophil Cytoplasmic Antibody-Associated Vasculitis.

    Published in:
    Arthritis & Rheumatology, 2017, v. 69, n. 7, p. 1470, doi. 10.1002/art.40112
    By:
    • Morishita, Kimberly A.;
    • Moorthy, Lakshmi N.;
    • Lubieniecka, Joanna M.;
    • Twilt, Marinka;
    • Yeung, Rae S. M.;
    • Toth, Mary B.;
    • Shenoi, Susan;
    • Ristic, Goran;
    • Nielsen, Susan M.;
    • Luqmani, Raashid A.;
    • Li, Suzanne C.;
    • Lee, Tzielan;
    • Lawson, Erica F.;
    • Kostik, Mikhail M.;
    • Klein‐Gitelman, Marisa;
    • Huber, Adam M.;
    • Hersh, Aimee O.;
    • Foell, Dirk;
    • Elder, Melissa E.;
    • Eberhard, Barbara A.
    Publication type:
    Article