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Joachim Kunz
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Journal Articles

Constitutional PIGA mutations cause a novel subtype of hemochromatosis in patients with neurologic dysfunction

Lena Muckenthaler, Oriana Marques, Silvia Colucci, Joachim Kunz, Piotr Fabrowski, Thomas Bast, Sandro Altamura, Britta Höchsmann, Hubert Schrezenmeier, Monika Langlotz, Paulina Richter-Pechanska, Tobias Rausch, Nicole Hofmeister-Mielke, Nikolas Gunkel, Matthias W. Hentze, Andreas E. Kulozik, Martina U. Muckenthaler
Journal: Blood
Blood (2022) 139 (9): 1418–1422.
https://doi.org/10.1182/blood.2021013519
Published: 2022
Includes: Supplemental data
Journal Articles

Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study

Clinical Trials & Observations
Rachael F. Grace, Paola Bianchi, Eduard J. van Beers, Stefan W. Eber, Bertil Glader, Hassan M. Yaish, Jenny M. Despotovic, Jennifer A. Rothman, Mukta Sharma, Melissa M. McNaull, Elisa Fermo, Kimberly Lezon-Geyda, D. Holmes Morton, Ellis J. Neufeld, Satheesh Chonat, Nina Kollmar, Christine M. Knoll, Kevin Kuo, Janet L. Kwiatkowski, Dagmar Pospíšilová, Yves D. Pastore, Alexis A. Thompson, Peter E. Newburger, Yaddanapudi Ravindranath, Winfred C. Wang, Marcin W. Wlodarski, Heng Wang, Susanne Holzhauer, Vicky R. Breakey, Joachim Kunz, Sujit Sheth, Melissa J. Rose, Heather A. Bradeen, Nolan Neu, Dongjing Guo, Hasan Al-Sayegh, Wendy B. London, Patrick G. Gallagher, Alberto Zanella, Wilma Barcellini
Journal: Blood
Blood (2018) 131 (20): 2183–2192.
https://doi.org/10.1182/blood-2017-10-810796
Published: 2018
Includes: Supplemental data
Journal Articles

Ex vivo drug response profiling detects recurrent sensitivity patterns in drug-resistant acute lymphoblastic leukemia

e-blood
Viktoras Frismantas, Maria Pamela Dobay, Anna Rinaldi, Joelle Tchinda, Samuel H. Dunn, Joachim Kunz, Paulina Richter-Pechanska, Blerim Marovca, Orrin Pail, Silvia Jenni, Ernesto Diaz-Flores, Bill H. Chang, Timothy J. Brown, Robert H. Collins, Sebastian Uhrig, Gnana P. Balasubramanian, Obul R. Bandapalli, Salome Higi, Sabrina Eugster, Pamela Voegeli, Mauro Delorenzi, Gunnar Cario, Mignon L. Loh, Martin Schrappe, Martin Stanulla, Andreas E. Kulozik, Martina U. Muckenthaler, Vaskar Saha, Julie A. Irving, Roland Meisel, Thomas Radimerski, Arend Von Stackelberg, Cornelia Eckert, Jeffrey W. Tyner, Peter Horvath, Beat C. Bornhauser, Jean-Pierre Bourquin
Journal: Blood
Blood (2017) 129 (11): e26–e37.
https://doi.org/10.1182/blood-2016-09-738070
Published: 2017
Includes: Supplemental data
Journal Articles

Gene Panel Sequencing of Primary and Relapsed Pediatric T-ALL Shows That Relapse-Specific Mutations Are Diverse and Mostly Non-Recurrent

Paulina Pechanska, Joachim Kunz, MD, Tobias Rausch, Obul Reddy Bandapalli, PhD, Elena Orlova, Judit Sagi, Martin Stanulla, MD, Martin Schrappe, MD PhD, Renate Kirschner-Schwabe, PhD, Jana Hof, Cornelia Eckert, Rolf Köhler, Martina U. Muckenthaler, PhD, Jan o. Korbel, Andreas E Kulozik, MDPhD
Journal: Blood
Blood (2015) 126 (23): 1428.
https://doi.org/10.1182/blood.V126.23.1428.1428
Published: 2015
Journal Articles

The Phenotypic Spectrum of Pyruvate Kinase Deficiency (PKD) from the PKD Natural History Study (NHS): Description of Four Severity Groups By Anemia Status

Rachael F. Grace, MD, D Holmes Morton, MD, Wilma Barcellini, MD, Stefan W. Eber, MD, Jenny M Depsotovic, DO, Christine M. Knoll, MD, Hassan M. Yaish, MD, Peter E. Newburger, MD, Jennifer Rothman, MD, Alexis A. Thompson, MD, Yaddanapudi Ravindranath, MBBS, Joachim Kunz, MD, Eduard J van Beers, MD PhD, Marcin W Wlodarski, MD, Kerri A Nottage, MD MPH, Heng Wang, MD, Mukta Sharma, MD MPH, Melissa J. Rose, DO, Yves D. Pastore, MD, Patricia J. Giardina, MD, Melissa Rhodes, MD, Kevin Kuo, BSc, MD, Vicky R. Breakey, BSc, MD MD FRCPC, Ellis J. Neufeld, MD PhD, Dongjing Guo, MS, Wendy B. London, PhD, Jill Falcone, Bertil Glader, MD PhD
Journal: Blood
Blood (2015) 126 (23): 2136.
https://doi.org/10.1182/blood.V126.23.2136.2136
Published: 2015
Journal Articles

Molecular Characterization of 140 Patients in the Pyruvate Kinase Deficiency (PKD) Natural History Study (NHS): Report of 20 New Variants

Paola Bianchi, BSC, PhD, Elisa Fermo, PhD, Kimberly Lezon-Geyda, PhD, Patrick G. Gallagher, MD, D Holmes Morton, MD, Wilma Barcellini, MD, Bertil Glader, MD PhD, Stefan W. Eber, MD, Jenny M. Despotovic, DO, MS, Christine M. Knoll, MD, Hassan M. Yaish, MD, Peter E. Newburger, MD, Jennifer Rothman, MD, Alexis A. Thompson, MD, Yaddanapudi Ravindranath, MBBS, Kerri A Nottage, MD MPH, Heng Wang, MD, Eduard J. van Beers, MD PhD, Joachim Kunz, MD, Marcin W Wlodarski, MD, Mukta Sharma, MD MPH, Melissa J. Rose, DO, Yves D. Pastore, MD, Patricia J. Giardina, MD, Melissa Rhodes, MD, Kevin Kuo, BSc, MD, Dongjing Guo, MS, Wendy B. London, PhD, Rachael F. Grace, MD
Journal: Blood
Blood (2015) 126 (23): 3337.
https://doi.org/10.1182/blood.V126.23.3337.3337
Published: 2015
Journal Articles

Targeted Deep Sequencing of Genetic Alterations Identified By Whole Exome Sequencing Reveals Clonal Evolution in Pediatric T-Lymphoblastic Leukemia

Joachim Kunz, MD, Obul R Bandapalli, PhD, Tobias Rausch, PhD, Adrian Stuetz, PhD, Paulina Pechanska, PhD, Yassen Assenov, Juliane Eilers, Elena Orlova, Judit Sagi, Martin Stanulla, MD, Martin Schrappe, Rupert Handgretinger, Renate Kirschner-Schwabe, PhD, Jana Hof, MSc, Cornelia Eckert, PhD, Smadar Avigad, PhD, Rolf Koehler, PhD, Martina U. Muckenthaler, Jan Korbel, PhD, Andreas E Kulozik
Journal: Blood
Blood (2014) 124 (21): 491.
https://doi.org/10.1182/blood.V124.21.491.491
Published: 2014
Journal Articles

Whole Exome Sequencing Identifies Novel Lyst-Missense Mutations In Incomplete Childhood Chediak-Higashi-Syndrome Presenting As Hemphagocytic Lymphohistiocytosis (HLH)

Joachim Kunz, MD, Tobias Rausch, PhD, Obul R Bandapalli, PhD, Adrian M Stuetz, PhD, Johann Greil, MD, Ingrid Hausser, MD, Jan Korbel, PhD, Andreas E Kulozik, MD, PhD
Journal: Blood
Blood (2013) 122 (21): 3479.
https://doi.org/10.1182/blood.V122.21.3479.3479
Published: 2013
Journal Articles

Whole Exome Sequencing In Relapsed Pediatric T-ALL: Progression Into Relapse Is Characterized By An Increased Number Of Somatic Mutations and a Conservation Of Mutations In Leukemogenic Driver Genes

Joachim Kunz, MD, Tobias Rausch, PhD, Obul R Bandapalli, PhD, Martina U. Muckenthaler, PhD, Adrian M Stuetz, PhD, Martin Stanulla, MD, MSc, Martin Schrappe, MD, Rupert Handgretinger, Smadar Avigad, PhD, Jan Korbel, PhD, Andreas E. Kulozik, MD, PhD
Journal: Blood
Blood (2013) 122 (21): 228.
https://doi.org/10.1182/blood.V122.21.228.228
Published: 2013