A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry
Tesorero, Rafael, Janda, Joachim, Hörster, Friederike, Feyh, Patrik, Mütze, Ulrike, Hauke, Jana, Schwarz, Kathrin, Kunz, Joachim B, Hoffmann, Georg F, Okun, Jürgen G
Published in PloS one (10.03.2023)
Published in PloS one (10.03.2023)
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Journal Article
Genetic modifiers of fetal hemoglobin affect the course of sickle cell disease in patients treated with hydroxyurea
Allard, Pierre, Alhaj, Nareen, Lobitz, Stephan, Cario, Holger, Jarisch, Andreas, Grosse, Regine, Oevermann, Lena, Hakimeh, Dani, Tagliaferri, Laura, Kohne, Elisabeth, Kopp-Schneider, Annette, Kulozik, Andreas E., Kunz, Joachim B.
Published in Haematologica (Roma) (01.07.2022)
Published in Haematologica (Roma) (01.07.2022)
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The activating STAT5B N642H mutation is a common abnormality in pediatric T-cell acute lymphoblastic leukemia and confers a higher risk of relapse
Bandapalli, Obul R, Schuessele, Stephanie, Kunz, Joachim B, Rausch, Tobias, Stütz, Adrian M, Tal, Noa, Geron, Ifat, Gershman, Nava, Izraeli, Shai, Eilers, Juliane, Vaezipour, Nina, Kirschner-Schwabe, Renate, Hof, Jana, von Stackelberg, Arend, Schrappe, Martin, Stanulla, Martin, Zimmermann, Martin, Koehler, Rolf, Avigad, Smadar, Handgretinger, Rupert, Frismantas, Viktoras, Bourquin, Jean Pierre, Bornhauser, Beat, Korbel, Jan O, Muckenthaler, Martina U, Kulozik, Andreas E
Published in Haematologica (Roma) (01.10.2014)
Published in Haematologica (Roma) (01.10.2014)
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Journal Article
Pediatric T-cell lymphoblastic leukemia evolves into relapse by clonal selection, acquisition of mutations and promoter hypomethylation
Kunz, Joachim B, Rausch, Tobias, Bandapalli, Obul R, Eilers, Juliane, Pechanska, Paulina, Schuessele, Stephanie, Assenov, Yassen, Stütz, Adrian M, Kirschner-Schwabe, Renate, Hof, Jana, Eckert, Cornelia, von Stackelberg, Arend, Schrappe, Martin, Stanulla, Martin, Koehler, Rolf, Avigad, Smadar, Elitzur, Sarah, Handgretinger, Rupert, Benes, Vladimir, Weischenfeldt, Joachim, Korbel, Jan O, Muckenthaler, Martina U, Kulozik, Andreas E
Published in Haematologica (Roma) (01.11.2015)
Published in Haematologica (Roma) (01.11.2015)
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Journal Article
PDX models recapitulate the genetic and epigenetic landscape of pediatric T‐cell leukemia
Richter‐Pechańska, Paulina, Kunz, Joachim B, Bornhauser, Beat, Knebel Doeberitz, Caroline, Rausch, Tobias, Erarslan‐Uysal, Büşra, Assenov, Yassen, Frismantas, Viktoras, Marovca, Blerim, Waszak, Sebastian M, Zimmermann, Martin, Seemann, Julia, Happich, Margit, Stanulla, Martin, Schrappe, Martin, Cario, Gunnar, Escherich, Gabriele, Bakharevich, Kseniya, Kirschner‐Schwabe, Renate, Eckert, Cornelia, Muckenthaler, Martina U, Korbel, Jan O, Bourquin, Jean‐Pierre, Kulozik, Andreas E
Published in EMBO molecular medicine (01.12.2018)
Published in EMBO molecular medicine (01.12.2018)
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Journal Article
Chromatin accessibility landscape of pediatric T‐lymphoblastic leukemia and human T‐cell precursors
Erarslan‐Uysal, Büşra, Kunz, Joachim B, Rausch, Tobias, Richter‐Pechańska, Paulina, Belzen, Ianthe AEM, Frismantas, Viktoras, Bornhauser, Beat, Ordoñez‐Rueada, Diana, Paulsen, Malte, Benes, Vladimir, Stanulla, Martin, Schrappe, Martin, Cario, Gunnar, Escherich, Gabriele, Bakharevich, Kseniya, Kirschner‐Schwabe, Renate, Eckert, Cornelia, Loukanov, Tsvetomir, Gorenflo, Matthias, Waszak, Sebastian M, Bourquin, Jean‐Pierre, Muckenthaler, Martina U, Korbel, Jan O, Kulozik, Andreas E
Published in EMBO molecular medicine (07.09.2020)
Published in EMBO molecular medicine (07.09.2020)
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Journal Article
MAP3K7 is recurrently deleted in pediatric T-lymphoblastic leukemia and affects cell proliferation independently of NF-κB
Cordas Dos Santos, David M, Eilers, Juliane, Sosa Vizcaino, Alfonso, Orlova, Elena, Zimmermann, Martin, Stanulla, Martin, Schrappe, Martin, Börner, Kathleen, Grimm, Dirk, Muckenthaler, Martina U, Kulozik, Andreas E, Kunz, Joachim B
Published in BMC cancer (18.06.2018)
Published in BMC cancer (18.06.2018)
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Journal Article
Benefits of a Disease Management Program for Sickle Cell Disease in Germany 2011–2019: The Increased Use of Hydroxyurea Correlates with a Reduced Frequency of Acute Chest Syndrome
Kunz, Joachim B., Schlotmann, Andreas, Daubenbüchel, Andrea, Lobitz, Stephan, Jarisch, Andrea, Grosse, Regine, Cario, Holger, Oevermann, Lena, Hakimeh, Dani, Tagliaferri, Laura, Kulozik, Andreas E.
Published in Journal of clinical medicine (30.09.2021)
Published in Journal of clinical medicine (30.09.2021)
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Journal Article
Functions of hUpf3a and hUpf3b in nonsense-mediated mRNA decay and translation
Kunz, Joachim B, Neu-Yilik, Gabriele, Hentze, Matthias W, Kulozik, Andreas E, Gehring, Niels H
Published in RNA (Cambridge) (01.06.2006)
Published in RNA (Cambridge) (01.06.2006)
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Journal Article
Determination of Four Sequential Stages during Microautophagy in Vitro
Kunz, Joachim B., Schwarz, Heinz, Mayer, Andreas
Published in The Journal of biological chemistry (12.03.2004)
Published in The Journal of biological chemistry (12.03.2004)
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Journal Article
NOTCH1 mutation, TP53 alteration and myeloid antigen expression predict outcome heterogeneity in children with first relapse of T-cell acute lymphoblastic leukemia
Hof, Jana, Kox, Corinne, Groeneveld-Krentz, Stefanie, Bandapalli, Obul R, Karawajew, Leonid, Schedel, Katharina, Kunz, Joachim B, Eckert, Cornelia, Ludwig, Wolf-Dieter, Ratei, Richard, Rhein, Peter, Henze, Günter, Muckenthaler, Martina U, Kulozik, Andreas E, von Stackelberg, Arend, Kirschner-Schwabe, Renate
Published in Haematologica (Roma) (01.07.2017)
Published in Haematologica (Roma) (01.07.2017)
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Journal Article
Introduction of Universal Newborn Screening for Sickle Cell Disease in Germany-A Brief Narrative Review
Lobitz, Stephan, Kunz, Joachim B, Cario, Holger, Hakimeh, Dani, Jarisch, Andrea, Kulozik, Andreas E, Oevermann, Lena, Grosse, Regine
Published in International journal of neonatal screening (28.01.2021)
Published in International journal of neonatal screening (28.01.2021)
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Journal Article
Newborn screening for sickle cell disease in Europe: recommendations from a Pan‐European Consensus Conference
Lobitz, Stephan, Telfer, Paul, Cela, Elena, Allaf, Bichr, Angastiniotis, Michael, Backman Johansson, Carolina, Badens, Catherine, Bento, Celeste, Bouva, Marelle J., Canatan, Duran, Charlton, Matthew, Coppinger, Cathy, Daniel, Yvonne, Montalembert, Marianne, Ducoroy, Patrick, Dulin, Elena, Fingerhut, Ralph, Frömmel, Claudia, García‐Morin, Marina, Gulbis, Béatrice, Holtkamp, Ute, Inusa, Baba, James, John, Kleanthous, Marina, Klein, Jeannette, Kunz, Joachim B., Langabeer, Lisa, Lapouméroulie, Claudine, Marcao, Ana, Marín Soria, José L., McMahon, Corrina, Ohene‐Frempong, Kwaku, Périni, Jean‐Marc, Piel, Frédéric B., Russo, Giovanna, Sainati, Laura, Schmugge, Markus, Streetly, Allison, Tshilolo, Leon, Turner, Charles, Venturelli, Donatella, Vilarinho, Laura, Yahyaoui, Rachel, Elion, Jacques, Colombatti, Raffaella
Published in British journal of haematology (01.11.2018)
Published in British journal of haematology (01.11.2018)
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Journal Article
The German sickle cell disease registry reveals a surprising risk of acute splenic sequestration and an increased transfusion requirement in patients with compound heterozygous sickle cell disease HbS /β‐thalassaemia and no or low HbA expression
Allard, Pierre, Tagliaferri, Laura, Weru, Vivienn, Cario, Holger, Lobitz, Stephan, Grosse, Regine, Bleeke, Matthias, Oevermann, Lena, Hakimeh, Dani, Jarisch, Andrea, Kopp‐Schneider, Annette, Kulozik, Andreas E., Kunz, Joachim B., Lassay, Lisa
Published in European journal of haematology (30.06.2024)
Published in European journal of haematology (30.06.2024)
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Single-cell analysis of structural variations and complex rearrangements with tri-channel processing
Sanders, Ashley D, Meiers, Sascha, Ghareghani, Maryam, Porubsky, David, Jeong, Hyobin, van Vliet, M Alexandra C C, Rausch, Tobias, Richter-Pechańska, Paulina, Kunz, Joachim B, Jenni, Silvia, Bolognini, Davide, Longo, Gabriel M C, Raeder, Benjamin, Kinanen, Venla, Zimmermann, Jürgen, Benes, Vladimir, Schrappe, Martin, Mardin, Balca R, Kulozik, Andreas E, Bornhauser, Beat, Bourquin, Jean-Pierre, Marschall, Tobias, Korbel, Jan O
Published in Nature biotechnology (01.03.2020)
Published in Nature biotechnology (01.03.2020)
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Journal Article
Sickle Cell Health Awareness, Perspectives, and Experiences (SHAPE) survey: Perspectives of adolescent and adult patients, caregivers, and healthcare professionals on the burden of sickle cell disease
Montalembert, Mariane, Anderson, Alan, Costa, Fernando F., Inusa, Baba P. D., Jastaniah, Wasil, Kunz, Joachim B., Tinga, Biba, Ingoli, Elvie, James, John, Hartfield, Regina, Beaubrun, Anne, Lartey, Belinda, Odame, Isaac
Published in European journal of haematology (01.08.2024)
Published in European journal of haematology (01.08.2024)
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Journal Article
Expression of CD56 defines a distinct subgroup in childhood T‐ALL with inferior outcome. Results of the ALL‐BFM 2000 trial
Fuhrmann, Stephan, Schabath, Richard, Möricke, Anja, Zimmermann, Martin, Kunz, Joachim B., Kulozik, Andreas E., Ludwig, Wolf‐Dieter, Schrappe, Martin, Karawajew, Leonid, Ratei, Richard
Published in British journal of haematology (01.10.2018)
Published in British journal of haematology (01.10.2018)
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