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Klaus Schmitz-Abe
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Journal Articles

Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice

Inga Hofmann, Mitchell J. Geer, Timo Vögtle, Andrew Crispin, Dean R. Campagna, Alastair Barr, Monica L. Calicchio, Silke Heising, Johanna P. van Geffen, Marijke J. E. Kuijpers, Johan W. M. Heemskerk, Johannes A. Eble, Klaus Schmitz-Abe, Esther A. Obeng, Michael Douglas, Kathleen Freson, Corinne Pondarré, Rémi Favier, Gavin E. Jarvis, Kyriacos Markianos, Ernest Turro, Willem H. Ouwehand, Alexandra Mazharian, Mark D. Fleming, Yotis A. Senis
Journal: Blood
Blood (2018) 132 (13): 1399–1412.
https://doi.org/10.1182/blood-2017-08-802769
Published: 2018
Includes: Supplemental data
Journal Articles

Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency

Matthew M. Heeney, Dongjing Guo, Luigia De Falco, Dean R. Campagna, Gordana Olbina, Paige P.-C. Kao, Klaus Schmitz-Abe, Fedik Rahimov, Patrick Gutschow, Keith Westerman, Vaughn Ostland, Tracy Jackson, Robert J. Klaassen, Kyriacos Markianos, Karin E. Finberg, Achille Iolascon, Mark Westerman, Wendy B. London, Mark D. Fleming
Journal: Blood
Blood (2018) 132 (4): 448–452.
https://doi.org/10.1182/blood-2017-03-773028
Published: 2018
Includes: Supplemental data
Journal Articles

Congenital Thrombocytopenia and Myelofibrosis Due to Germline Mutations in G6b-B— a Megakaryocyte-Specific Immunoreceptor Tyrosine-Based Inhibitory Motif (ITIM) Receptor

Inga Hofmann, MD, Andrew Crispin, BS, Dean Campagna, BS, Monica Calicchio, Klaus Schmitz-Abe, Esther A. Obeng, MD PhD, Kyriacos Markianos, Yotis A. Senis, Mark D. Fleming, MD DPhil
Journal: Blood
Blood (2017) 130 (Supplement 1): 1630.
https://doi.org/10.1182/blood.V130.Suppl_1.1630.1630
Published: 2017
Journal Articles

A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia

Brief Report
Daniel A. Lichtenstein, Andrew W. Crispin, Anoop K. Sendamarai, Dean R. Campagna, Klaus Schmitz-Abe, Cristovao M. Sousa, Martin D. Kafina, Paul J. Schmidt, Charlotte M. Niemeyer, John Porter, Alison May, Mrinal M. Patnaik, Matthew M. Heeney, Alec Kimmelman, Sylvia S. Bottomley, Barry H. Paw, Kyriacos Markianos, Mark D. Fleming
Journal: Blood
Blood (2016) 128 (15): 1913–1917.
https://doi.org/10.1182/blood-2016-05-719062
Published: 2016
Includes: Supplemental data
Journal Articles

Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9

Brief Report
Klaus Schmitz-Abe, Szymon J. Ciesielski, Paul J. Schmidt, Dean R. Campagna, Fedik Rahimov, Brenda A. Schilke, Marloes Cuijpers, Klaus Rieneck, Birgitte Lausen, Michael L. Linenberger, Anoop K. Sendamarai, Chaoshe Guo, Inga Hofmann, Peter E. Newburger, Dana Matthews, Akiko Shimamura, Pieter J. L. M. Snijders, Meghan C. Towne, Charlotte M. Niemeyer, Henry G. Watson, Morten H. Dziegiel, Matthew M. Heeney, Alison May, Sylvia S. Bottomley, Dorine W. Swinkels, Kyriacos Markianos, Elizabeth A. Craig, Mark D. Fleming
Journal: Blood
Blood (2015) 126 (25): 2734–2738.
https://doi.org/10.1182/blood-2015-09-659854
Published: 2015
Includes: Supplemental data
Journal Articles

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

Brief Report
Pranesh K. Chakraborty, Klaus Schmitz-Abe, Erin K. Kennedy, Hapsatou Mamady, Turaya Naas, Danielle Durie, Dean R. Campagna, Ashley Lau, Anoop K. Sendamarai, Daniel H. Wiseman, Alison May, Stephen Jolles, Philip Connor, Colin Powell, Matthew M. Heeney, Patricia-Jane Giardina, Robert J. Klaassen, Caroline Kannengiesser, Isabelle Thuret, Alexis A. Thompson, Laura Marques, Stephen Hughes, Denise K. Bonney, Sylvia S. Bottomley, Robert F. Wynn, Ronald M. Laxer, Caterina P. Minniti, John Moppett, Victoria Bordon, Michael Geraghty, Paul B. M. Joyce, Kyriacos Markianos, Adam D. Rudner, Martin Holcik, Mark D. Fleming
Journal: Blood
Blood (2014) 124 (18): 2867–2871.
https://doi.org/10.1182/blood-2014-08-591370
Published: 2014
Includes: Supplemental data
Journal Articles

Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus

Vijay G. Sankaran, Mugdha Joshi, Akshat Agrawal, Klaus Schmitz-Abe, Meghan C. Towne, Nicholas Marinakis, Kyriacos Markianos, Gerard T. Berry, Pankaj B. Agrawal
Journal: Blood
Blood (2013) 122 (23): 3845–3847.
https://doi.org/10.1182/blood-2013-09-528315
Published: 2013
Journal Articles

GATA2 Mutations In Pediatric Myelodysplastic Syndromes and Bone Marrow Failure

Inga Hofmann, MD, Daniel Kierstead, Jennie Krasker, Dean Campagna, Klaus Schmitz-Abe, PhD, Kyriacos Markianos, PhD, Michelle A Lee, MD, PhD, Colin A. Sieff, MD, Suneet Agarwal, MD, PHD, Jennifer J Clark, MD, Michael Jeng, MD, Mignon L. Loh, MD, Evan Shereck, MD, David A. Williams, MD, Mark D Fleming, D.Phil., M.D.
Journal: Blood
Blood (2013) 122 (21): 1520.
https://doi.org/10.1182/blood.V122.21.1520.1520
Published: 2013
Journal Articles

A Novel Rat Model of Hereditary Hemochromatosis Due to a Mutation in Transferrin Receptor 2

Thomas Benedict Bartnikas, MD, PhD, Sheryl Wildt, Amy Wineinger, Klaus Schmitz-Abe, PhD, Kyriacos Markianos, PhD, Dale Cooper, DVM, Mark D. Fleming, MD, DPhil
Journal: Blood
Blood (2012) 120 (21): 612.
https://doi.org/10.1182/blood.V120.21.612.612
Published: 2012