Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1 -Related Myopathy
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
Published in International journal of molecular sciences (09.10.2024)
Published in International journal of molecular sciences (09.10.2024)
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Journal Article
Broad genomic workup including optical genome mapping uncovers a DDX3X: MLLT10 gene fusion in acute myeloid leukemia
Nilius-Eliliwi, Verena, Tembrink, Marco, Gerding, Wanda Maria, Lubieniecki, Krzystof P., Lubieniecka, Joanna M., Kankel, Stefanie, Liehr, Thomas, Mika, Thomas, Dimopoulos, Fotios, Döhner, Konstanze, Schroers, Roland, Nguyen, Hoa Huu Phuc, Vangala, Deepak Ben
Published in Frontiers in oncology (09.09.2022)
Published in Frontiers in oncology (09.09.2022)
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Journal Article
A discovery study of daunorubicin induced cardiotoxicity in a sample of acute myeloid leukemia patients prioritizes P450 oxidoreductase polymorphisms as a potential risk factor
Lubieniecka, Joanna M, Graham, Jinko, Heffner, Daniel, Mottus, Randy, Reid, Ronald, Hogge, Donna, Grigliatti, Tom A, Riggs, Wayne K
Published in Frontiers in genetics (2013)
Published in Frontiers in genetics (2013)
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Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets
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
Published in BMC medical genomics (14.03.2022)
Published in BMC medical genomics (14.03.2022)
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Journal Article
Biomarkers for severity of spinal cord injury in the cerebrospinal fluid of rats
Lubieniecka, Joanna M, Streijger, Femke, Lee, Jae H T, Stoynov, Nikolay, Liu, Jie, Mottus, Randy, Pfeifer, Tom, Kwon, Brian K, Coorssen, Jens R, Foster, Leonard J, Grigliatti, Thomas A, Tetzlaff, Wolfram
Published in PloS one (29.04.2011)
Published in PloS one (29.04.2011)
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Journal Article
Histone deacetylase inhibitors reverse SS18-SSX-mediated polycomb silencing of the tumor suppressor early growth response 1 in synovial sarcoma
Lubieniecka, Joanna M, de Bruijn, Diederik R H, Su, Le, van Dijk, Anke H A, Subramanian, Subbaya, van de Rijn, Matt, Poulin, Neal, van Kessel, Ad Geurts, Nielsen, Torsten O
Published in Cancer research (Chicago, Ill.) (01.06.2008)
Published in Cancer research (Chicago, Ill.) (01.06.2008)
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Journal Article
Naturally occurring variants of human CBR3 alter anthracycline in vitro metabolism
Bains, Onkar S, Karkling, Morgan J, Lubieniecka, Joanna M, Grigliatti, Thomas A, Reid, Ronald E, Riggs, K Wayne
Published in The Journal of pharmacology and experimental therapeutics (01.03.2010)
Published in The Journal of pharmacology and experimental therapeutics (01.03.2010)
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Journal 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, 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
Published in Pediatric rheumatology online journal (07.08.2017)
Published in Pediatric rheumatology online journal (07.08.2017)
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Journal Article
S100A12 Serum Levels and PMN Counts Are Elevated in Childhood Systemic Vasculitides Especially Involving Proteinase 3 Specific Anti-neutrophil Cytoplasmic Antibodies
Brown, Kelly L, Lubieniecka, Joanna M, Armaroli, Giulia, Kessel, Katharina, Gibson, Kristen M, Graham, Jinko, Liu, Dongmeng, Hancock, Robert E W, Ross, Colin J, Benseler, Susanne M, Luqmani, Raashid A, Cabral, David A, Foell, Dirk, Kessel, Christoph
Published in Frontiers in pediatrics (23.11.2018)
Published in Frontiers in pediatrics (23.11.2018)
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Journal Article
Validation of a sequential extraction and liquid chromatography–tandem mass spectrometric method for determination of dihydrotestosterone, androstanediol and androstanediol–glucuronide in prostate tissues
Adomat, Hans H., Bains, Onkar S., Lubieniecka, Joanna M., Gleave, Martin E., Guns, Emma S., Grigliatti, Thomas A., Reid, Ronald E., Riggs, K. Wayne
Published in Journal of chromatography. B, Analytical technologies in the biomedical and life sciences (01.08.2012)
Published in Journal of chromatography. B, Analytical technologies in the biomedical and life sciences (01.08.2012)
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Journal Article
A correlation between cytotoxicity and reductase-mediated metabolism in cell lines treated with doxorubicin and daunorubicin
Bains, Onkar S, Szeitz, András, Lubieniecka, Joanna M, Cragg, Gina E, Grigliatti, Thomas A, Riggs, K Wayne, Reid, Ronald E
Published in The Journal of pharmacology and experimental therapeutics (01.11.2013)
Published in The Journal of pharmacology and experimental therapeutics (01.11.2013)
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Journal Article
Early Outcomes in Children With Antineutrophil Cytoplasmic Antibody–Associated Vasculitis
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., Dancey, Paul, Charuvanij, Sirirat, Benseler, Susanne M., Cabral, David A.
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.07.2017)
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.07.2017)
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Journal Article
Comparison of the ABC and ACMG systems for variant classification
Houge, Gunnar, Bratland, Eirik, Aukrust, Ingvild, Tveten, Kristian, Žukauskaitė, Gabrielė, Sansovic, Ivona, Brea-Fernández, Alejandro J, Mayer, Karin, Paakkola, Teija, McKenna, Caoimhe, Wright, William, Markovic, Milica Keckarevic, Lildballe, Dorte L, Konecny, Michal, Smol, Thomas, Alhopuro, Pia, Gouttenoire, Estelle Arnaud, Obeid, Katharina, Todorova, Albena, Jankovic, Milena, Lubieniecka, Joanna M, Stojiljkovic, Maja, Buisine, Marie-Pierre, Haukanes, Bjørn Ivar, Lorans, Marie, Roomere, Hanno, Petit, François M, Haanpää, Maria K, Beneteau, Claire, Pérez, Belén, Plaseska-Karanfilska, Dijana, Rath, Matthias, Fuhrmann, Nico, Ferreira, Bibiana I, Stephanou, Coralea, Sjursen, Wenche, Maver, Aleš, Rouzier, Cécile, Chirita-Emandi, Adela, Gonçalves, João, Kuek, Wei Cheng David, Broly, Martin, Haer-Wigman, Lonneke, Thong, Meow-Keong, Tae, Sok-Kun, Hyblova, Michaela, den Dunnen, Johan T, Laner, Andreas
Published in European journal of human genetics : EJHG (01.07.2024)
Published in European journal of human genetics : EJHG (01.07.2024)
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Journal Article
Single-Nucleotide Polymorphisms in Aldo-Keto and Carbonyl Reductase Genes Are Not Associated with Acute Cardiotoxicity after Daunorubicin Chemotherapy
LUBIENIECKA, Joanna M, JIE LIU, HEFFNER, Daniel, GRAHAM, Jinko, REID, Ronald, HOGGE, Donna, GRIGLIATTI, Tom A, RIGGS, Wayne K
Published in Cancer epidemiology, biomarkers & prevention (01.11.2012)
Published in Cancer epidemiology, biomarkers & prevention (01.11.2012)
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Journal Article
Single-Nucleotide Polymorphisms in Reductase Genes Are not Associated with Response to Daunorubicin-Based Remission Induction
LUBIENIECKA, Joanna M, JIE LIU, GRAHAM, Jinko, HEFFNER, Daniel, REID, Ronald, HOGGE, Donna, GRIGLIATTI, Tom A, RIGGS, Wayne K
Published in Cancer epidemiology, biomarkers & prevention (01.10.2013)
Published in Cancer epidemiology, biomarkers & prevention (01.10.2013)
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