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Ausgewählte Publikationen

Aktuelle Veröffentlichungen (ab 2016)

- Rommel M, Milde C, Eberle R, Schulze H, Modlich U. Endothelial-platelet interactions in influenza-induced pneumonia: a potential therapeutic target? Anatomia, Histologia, Embryologia 2019, manuscript accepted for publication. DOI:10.1111/ahe.12521

- Manukjan G, Wiegering V, Reindl T, Strauß G, Klopocki E, Schulze H*, Andres O. Novel variants in FERMT3 and RASGRP2 in consideration of genetic linkage in Glanzmann-like bleeding disorders. Pediatric Blood Cancer 2019, Nov 14:e28078. doi: 10.1002/pbc.28078. [Epub ahead of print] (corresponding author)

- Vögtle T, Sharma S, Mori J, Nagy Z, Semeniak D, Scandola C, Geer MJ, Smith CW, Lane J, Pollack S, Lassila R, Jouppila A, Barr AJ, Ogg DJ, Howard TD, McMiken HJ, Warwicker J, Geh C, Rowlinson R, Abbott WM, Eckly A, Schulze H, Wright GJ, Mazharian A, Fütterer K, Rajesh S, Douglas MR, Senis YA. Heparan sulfates are critical regulators of the inhibitory megakaryocyte-platelet receptor G6b-B. eLife 2019, Aug 22;8. pii: e46840. doi: 10.7554/eLife.46840.

- Geue S, Aurbach K, Manke M-C, Manukjan G, Münzer P, Stegner D, Brähler C, Walker-Allgaier B, Märlin M, Borst C, Quintanilla-Martinez L, Rath D, Geisler T, Salih H, Seizer P, Lang F, Nieswandt B, Gawaz M, Schulze H, Pleines I, Borst O. Pivotal Role of PDK1 in Megakaryocyte Cytoskeletal Dynamics and Polarization during Platelet Biogenesis. Blood. 2019, Oct 2. pii: blood.2019000185. doi: 10.1182/blood.2019000185. [Epub ahead of print]

- Semeniak D, Faber K, Öftering P, Manukjan G, Schulze H. Impact of Itga2-Gp6-double collagen receptor deficient mice for bone marrow megakaryocytes and platelets. PLoS One. 2019, Aug 9;14(8):e0216839. doi: 10.1371/journal.pone.0216839. eCollection.

- Eyrich M, Schulze H. HLA matching in pediatric stem cell transplantation. Transfusion Medicine and Hemotherapy. 2019, 46:348-354. (DOI:10.1159/000502422).

- Gotru SK, van Geffen JP, Nagy M, Mammadova-Bach E, Eilenberger J, Volz J, Manukjan G, Schulze H, Wagner L, Eber S, Schambeck C, Deppermann C, Brouns S, Nurden P, Greinacher A, Sachs U, Nieswandt B, Hermanns HM, Heemskerk JWM, Braun A. Defective Zn2+ homeostasis in mouse and human platelets with α- and δ-storage pool diseases. Scientific Reports. 2019, 9(1):8333. doi: 10.1038/s41598-019-44751-w.

- Schuhmann MK, Kraft P, Bieber M, Kollikowski AM, Schulze H, Nieswandt B, Pham M, Stegner D, Stoll G. Targeting platelet GPVI plus rt-PA administration but not α2β1-mediated collagen binding protects against ischemic brain damage in mice. Int J Mol Sci. 2019, 20(8). pii: E2019. doi: 10.3390/ijms20082019

- Andres O, König EM, Althaus K. Bakchoul T, Bugert P, Eber S, Knöfler R, Kunstmann E, Manukjan G, Meyer O, Strauß G, Streif W, Thiele T, Wiegering V, Klopocki E, Schulze H. Use of targeted high-throughput sequencing for genetic classification of patients with bleeding diathesis and suspected platelet disorder. TH Open, 2018, Dec 30;2(4):e445-e454. doi: 10.1055/s-0038-1676813. eCollection 2018 Oct.

- Mekala SR, Wörsdörfer P, Bauer J, Stoll O, Wagner N, Reeh L, Loew K, Eckner G, Kwok CK, Wischmeyer E, Dickinson ME, Schulze H, Stegner D, Benndorf RA, Edenhofer F, Pfeiffer V, Kuerten S, Frantz S, Ergün S. Generation of Cardiomyocytes from Vascular Adventitia-Resident Stem Cells. Circ. Res, 2018, 123:686-699.

- Manukjan G, Eilenberger J, Andres O, Schambeck C, Eber S, Schulze H. Functional classification of pediatric patients with non-syndromic delta-storage pool deficiency. Hämostaseologie, 2018, Nov 21. doi: 10.1055/s-0038-1675574. [Epub ahead of print].

- Schulze H and Stegner D. Imaging of Platelet Production In Vivo. Res Pract Thromb Haemost, 2018, manuscript accepted for publication. Res Pract Thromb Haemost, 2018 Jun 10;2(3):461-468.

- Stritt S, Birkholz I, Beck S, Sorrentino S, Sapra TK, Viaud J, Heck J, Gaits-Iacovoni F, Schulze H, Du X, Hartwig JH, Braun A, Bender M, Medalia O, and Nieswandt B. Profilin 1-mediated cytoskeletal rearrangements regulate integrin function in mouse platelets. Blood Advances, 2018; 2(9):1040-1045.

- Andres O, Henning K, Strauß G, Pflug A, Manukjan G, Schulze H. Diagnosis of platelet function disorders: A standardised, rational and modular flow cytometric approach. Platelets, 2018; 29(4):347-356.

- Münzer P, Walker-Allgaier B, Geue S, Langhauser F, Geuss E, Stegner D, Aurbach K, Semeniak D, Chatterjee M, Gonzalez-Menendez I, Märklin M, Quintanilla-Martinez L, Salih H, Lichtfield DW, Buchou T, Kleinschnitz C, Lang F, Nieswandt B, Pleines I, Schulze H, Gawaz M, Borst O. CK2β critically regulates thrombopoiesis and Ca2+-triggered platelet activation in arterial thrombosis in vivo. Blood, 2017; 130(25):2774-2785.

- Manukjan G, Bösing H, Schmugge M, Strauß G, Schulze H. Impact of Genetic Variants on Haematopoiesis in Patients with Thrombocytopenia Absent Radii (TAR) Syndrome. British Journal of Haematology, 2017, 179(4):606-617.

- Stegner D, van Eeuwijk JMM, Angay O, Gorelashvili M, Semeniak D, Pinnecker J, Schmithausen P, Meyer I, Friedrich M, Dütting S, Brede C, Beilhack A, Schulze H, Nieswandt B, and Heinze K. Thrombopoiesis is spatially regulated by the bone marrow vasculature. Nature Communications, 2017, 8(1):127.

- Schulze H*, Schlagenhauf A*, Manukjan G, Beham-Schmid C, Andres O, Klopocki E, König E-M, Haidl H, Panzer S, Althaus K, Muntean W, Schwinger W, Urban C, Greinacher A, Bakchoul T*, Seidel MG*. (*joint authorship) Recessive Grey Platelet-like Syndrome with Unaffected Erythropoiesis in the Absence of the Splice Isoform GFI1B-p37. Haematologica, 2017, Sep;102(9):e375-e378.

- Dütting S, Gaits-Iacovoni F, Stegner D, Popp M, Antkowiak A, van Eeuwijk JMM, Nurden P, Stritt S, Heib T, Aurbach K, Angay O, Cherpokova D, Heinz N, Baig A, Gorelashvili M, Gerner F, Heinze K, Ware J, Krohne G, Ruggeri Z, Nurden A, Schulze H, Modlich U, Pleines I, Brakebusch, Nieswandt B. A Cdc42/RhoA regulatory circuit downstream of glycoprotein Ib guides transendothelial platelet biogenesis. Nature Communications, 2017, 8:15838. doi: 10.1038/ncomms15838.

- Kunz M, Wolf B, Schulze H, Atlan D, Walles T, Walles H, Dandekar T. Non-coding RNAs in lung cancer: Contribution of bioinformatics analysis to the development of non-invasive diagnostic tools, Genes, 2016, 26;8(1). pii: E8. doi: 10.3390/genes8010008.

- Andres O, Wiegering W, König E-M, Schneider AL, Semeniak D, Stritt S, Klopocki E, Schulze H. A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome, Pediatric Blood Cancer, 2016; 64(5). doi: 10.1002/pbc.26320

- Semeniak D, Kulawig R, Stegner D, Meyer I, Schwiebert S, Bösing H, Eckes B, Nieswandt B, Schulze H. Proplatelet formation is selectively inhibited by collagen type I via Syk-independent GPVI signaling, Journal of Cell Science, 2016;129(18):3473-84.

- Stritt S, Nurden P, Favier R, Ferioli S, Gortu SK, von Eeuwijk JMM, Schulze H, Nurden AT, Lambert MP, Turro E, Burger-Stritt S, Matsushita M, Mittermeier L, Ballerini P, Zierler S, NIHR BioResource, Laffan MA, Chubanov V, Gudermann T, Nieswandt B, Braun A. Defects in TRPM7 channel function deregulate thrombopoiesis through altered cellular Mg2+ homeostasis and cytoskeletal architecture. Nature Communications 2016;7:11097. doi: 10.1038/ncomms11097.

- Schulze H. Culture, Expansion, and Differentiation of Murine Megakaryocytes from Fetal Liver, Bone Marrow and Spleen. Current Protocols in Immunology; 2016 Feb 2;112:22F.6.1-22F.6.15

 

Übersichtsartikel

- Andres O, Schulze H*, Speer C*. Platelets in Neonatal Infants: Distinct Central Mediators in Haemostasis, Antimicrobial Defence and Inflammation. (* joint authorship) Thrombosis and Haemostasis 2015; Jan;113(1):3-12. doi: 10.1160/TH14-05-0476.

- Schulze H. Gegenwärtige Modelle der Thrombozytopoese. Der Pathologe 2010; [Suppl 2] 31:183–187

- Dame C, Gaedicke G, Schulze H. Physiologie der Megakaryopoese und des Thrombozyten. Monatsschrift Kinderheilkunde 2006; 154: 502-509

- Gaedicke G, Schulze H. Some unsettled Questions in Childhood Thrombocytopenia Caused by Immunologic Platelet Destruction (Acute and Chronic ITP). Pediatric Blood Cancer 2006; 47: 668-670

- Shivdasani RA, Schulze H. Culture, Expansion and Differentiation of Murine Megakaryocytes. Current Protocols in Immunology 2005, Suppl. 67 Chapter 22F.6.1-22F.6.13

- Schulze H, Shivdasani RA. Mechanisms of Thrombopoiesis. Journal of Thrombosis and Hemostasis 2005; 3: 1717-1724

- Schulze H, Shivdasani RA. Molecular Mechanisms of Megakaryocyte Differentiation. Seminars in Thrombosis and Hemostasis 2004; 4: 389-397

- Germeshausen M, Schulze H, Gaudig A, Krukemeier S, Strauss G, Welte K, Ballmaier M. Congenital Amegakaryocytic Thrombocytopenia (CAMT) - a Defect of the Thrombopoietin Receptor c-Mpl. Klin Padiatr. 2001; 213: 155-161

- Strauß G, Ballmaier M, Schulze H, Bogenberger J, Riehm H, Welte K. Significance of Thrombopoietin and its Receptor c-Mpl in Regulation of Thrombocytopoiesis in Thrombocytopenia. Klin. Pädiatr 1996; 208: 168-171

 

Artikel über Thrombozytopenien, -pathien und das TAR-Syndrom

- Crazzolara R, Maurer K, Schulze H, Zieger B, Zustin J, Schulz AS. A new mutation in the KINDLIN-3 gene ablates integrin-dependent leukocyte, platelet and osteoclast function in a patient with leukocyte adhesion deficiency-III. Pediatr Blood Cancer. 2015 Sep;62(9):1677-9. doi: 10.1002/pbc.25537

- Westbury SK, Turro E, Greene D, Lentaigne C, Kelly AM, Bariana TK, Simeoni I, Pillois X, Atwood A, Austin S, Jansen SBG, Bakchoul T, Crisp-Hihn A, Erber WN, Favier R, Foad N, Gattens M, Jolley JD, Liesner R, Meacham S, Millar CM, Nurden AT, Peerlinck K, Perry DJ, Poudel P, Schulman S, Schulze H, Stephens JC, Furie B, Robinson PN, van Geet C, Rendon A, Gomez K, Laffan MP, Nurden P, Ouwehand WH, Richardson S, Mumford AD, Freson K on behalf of the BRIDGE-BPD consortium. Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders. Genome Medicine 2015 Apr 9;7(1):36. doi: 10.1186/s13073-015-0151-5

- Streif W, Knöfler R, Eberl W, Andres O, Bakchoul T, Bergmann F, Beutel K, Dittmer R, Gehrisch S, Gottstein S, Halimeh S, Haselböck J, Hassenpflug WA, Heine S, Holzhauer S, King S, Kirchmaier CM, Krause M, Kreuz W, Lösche W, Mahnel R, Maurer M, Nimtz-Talaska A, Olivieri M, Rott H, Schambeck ChM, Schedel A, Schilling FH, Schmugge M, Schneppenheim R, Scholz U, Scholz T, Schulze H, Siegemund A, Strauß G, Sykora KW, Wermes C, Wiegering V, Wieland I, Zieger B, Zotz RB. Therapy of inherited diseases of platelet function. Interdisciplinary S2K guideline of the Permanent Paediatric Committee of the Society of Thrombosis and Haemostasis Research (GTH e. V.)] Hamostaseologie. 2014;34(4):269-75.

- Knöfler R*, Eberl W*, Schulze H*, Bakchoul T, Bergmann F, Gehrisch S, Geisen C, Gottstein S, Halimeh S, Harbrecht U, Kappert G, Kirchmaier C, Kehrel B, Lösche W, Krause M, Mahnel R, Meyer O, Pilgrimm AK, Pillitteri D, Rott H, Santoso S, Siegemund A, Schambeck C, Scheer M, Schmugge M, Scholl T, Strauß G, Zieger B, Zotz R, Herrmann M, Streif W. (*joint authorship) Diagnosis of inherited diseases of platelet function. Interdisciplinary S2K guideline of the Permanent Paediatric Committee of the Society of Thrombosis and Haemostasis Research (GTH e.V.) Hämostaseologie. 2014 5;34(3):201-12 AWMF-Register Nr. 086-003. www.awmf.org/leitlinien/detail/ll/086-003.html

-Albers C*, Paul D*, Schulze H*, Freson K, Stephens J, Cvejic A, Kostadima M, Bertone P, Breuning M, Debili N, Deloukas P, Favier R, Fiedler J, Hobbs C, Huang N, Hurles M, Jolley J, Krapels I, Nurden P, Ruivenkamp C, Sambrook J, Smethurst P, Strauß G, van Geet C, Newbury-Ecob R**, Ouwehand W**, Ghevaert C**. Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. (*, ** joint authorship). Nature Genetics 2012. 44(4):435-9, S1-2.

- Fiedler J, Strauß G, Wannack M, Schwiebert S, Seidel K, Henning K, Klopocki E, Schmugge M, Gaedicke G, Schulze H. Two patterns of thrombopoietin signaling suggest no coupling between platelet production and thrombopoietin reactivity in thrombocytopenia-absent radii syndrome, Haematologica. 2012 Jan;97(1):73-81.

- Schulze H, Gaedicke G. Immune thrombocytopenia in children and adults: what's the same, what's different? Haematologica 2011; 96:1739-1741

- Strauß G, Vollert C, von Stackelberg A, Weimann A, Gaedicke G, Schulze H. Immature platelet count: a simple parameter for distinguishing thrombocytopenia in pediatric acute lymphocytic leukemia from immune thrombocytopenia. Pediatric Blood Cancer. 2011, 57(4):641-647.

- Jurk K, Schulz AS, Kehrel BE, Räpple D, Schulze H, Möbest D, Friedrich WW, Omran H, Deak E, Henschler R, Scheele JS, Zieger B. Novel integrin-dependent platelet malfunction in siblings with leukocyte adhesion deficiency-III (LAD-III) caused by a point mutation in FERMT3. Thromb. Haemost. 2010, 103(5): 1053-1064.

- Klopocki E*, Schulze H*, Strauß G, Ott CE, Hall J, Trotier F, Fleischhauer S, Greenhalgh L, Newbury-Ecob RA, Neumann LM, Habenicht R, König R, Seemanova E, Megarbane A, Ropers H, Ullmann R, Horn D, Mundlos S. Complex inheritance pattern resembling autosomale-recessive inheritance involving a microdeletion in thrombocytopenia-absent radius (TAR) syndrome Am. J. Human Genet. 2007, 80: 232-240 (*Co-first-authors)

- Ballmaier M, Germeshausen M, Schulze H, Cherkaoui K, Lang S, Gaudig A, Krukemeier S, Eilers M, Strauss G, Welte K. c-mpl Mutations are the Cause of Congenital Amegakaryocytic Thrombocytopenia. Blood 2001; 97: 139-146

- Cremer M, Schulze H, Linthorst G, Folman CC, Wehnert S, Strauß G, von dem Borne AEGK, Welte K, Ballmaier M. Serum Levels of Thrombopoietin, IL-11 and IL-6 in Pediatric Thrombocytopenias. Ann Hematol 1999; 78: 401-407

- Ballmaier M, Schulze H, Cremer M, Folman C, Strauß G, Welte K. Defective c-Mpl Signaling in the Syndrome of Thrombocytopenia with Absent Radii. Stem Cells 1998; 16(suppl. 2): 177-184

- Ballmaier M*, Schulze H*, Strauß G, Cherkaoui K, Wittner N, Lynen S, Wolters S, Bogenberger J, Welte K. Thrombopoietin in Patients with Congenital Thrombocytopenia and Absent Radii: Elevated Serum Levels, Normal Receptor Expression, But Defective Reactivity to Thrombopoietin. Blood 1997; 90: 612-619 (*Co-first-authors)

 

Thrombozyten und Megakaryozyten

- Bender M*, Stritt S*, Nurden P, van Eeuwijk J, Zieger B, Kentouche K, Schulze H, Morbach H, Stegner D, Heinze K, Dütting S, Gupta S, Witke W, Falet H, Fischer A, Hartwig JH, Nieswandt B. Megakaryocyte-specific Profilin1-deficiency alters microtubule stability and causes a Wiskott-Aldrich syndrome-like platelet defect. Nature Communications 2014,Sep 4;5:4746. doi: 10.1038/ncomms5746

- Pleines I, Dütting S, Cherpokova D, Eckly A, Meyer I, Morowski M, Krohne G, Schulze H, Gachet C, Debili N, Brakebusch C, Nieswandt B. Defective tubulin organization and proplatelet formation in murine megakaryocytes lacking Rac1 and Cdc42. Blood, 2013, 122: 3178-3187.

- Lachmann N*, Todorova K*, Schulze H**, Schönemann C**. Luminex and its Applications for Solid Organ Transplantation, Hematopoietic Stem Cell Transplantation and Transfusion. (*, ** joint authorship) Transfusion Medicine and Hemotherapy 2013;40:182-189.

- Begonja AJ, Gambaryan S, Schulze H, Patel-Hett S, Italiano JE Jr., Hartwig JH, Walter U. Differential roles of cAMP and cGMP in megakaryocyte maturation and platelet biogenesis. Exp. Hematology 2013, 41(1):91-101.e4.

- Meyer I, Kunert S, Schwiebert S, Hagedorn I, Italiano JE Jr, Dütting S, Nieswandt B, Bachmann S, Schulze H. Altered microtubule equilibrium and impaired thrombus stability in mice lacking RanBP10. Blood 2012;120: 3594-3602.

- Schulze H. Culture of Murine Megakaryocytes and Platelets from Fetal Liver and Bone Marrow. Platelets and Megakaryocytes: Volume 3, Additional Protocols and Perspectives, Methods Mol Biol. 2012;788:193-203.

- Winter O, Moser K, Mohr E, Zotos D, Kaminski H, Szyska M, Roth K, Wong DM, Dame C, Tarlinton D, Schulze H, MacLennan I, Manz RA. Megakaryocytes constitute a functional component of a plasma cell niche in the bone marrow. Blood 2010; 116: 1867-1875

- Lütteke N, Raftery MJ, Lalwani P, Lee MH, Giese T, Voigt S, Bannert N, Schulze H, Krüger DH, Schönrich G. Switch to high-level virus replication and HLA class I upregulation in differentiating megakaryocytic cells after infection with pathogenic hantavirus. Virology 2010; 405 (1): 70-80.

- Kunert S, Meyer I, Fleischhauer S, Wannack M, Fiedler J, Shivdasani RA, Schulze H. The microtubule modulator RanBP10 plays a critical role in regulation of platelet discoid shape and degranulation. Blood 2009;114: 5532-5540

- Schulze H, Dose M, Korpal M, Meyer I, Italiano JE Jr., Shivdasani RA. RanBP10 is a cytoplasmic guanine nucleotide-exchange factor that modulates non-centrosomal microtubules. Journal of Biological Chemistry 2008; 283 (20): 14109-14119.

- Patel-Hett S, Richardson JL, Schulze H, Drabek K, Isaac NA, Hoffmeister K, Shivdasani RA, Bulinski JC, Galjart N, Hartwig JH, Italiano JE, Jr. Visualization of microtubule growth in living platelets reveals a dynamic marginal band with multiple microtubules. Blood 2008;111: 4605-4616.

- Junt T, Schulze H, Chen Z, Massberg S, Goerge T, Krueger A, Wagner DD, Graf T, Italiano JE Jr, Shivdasani RA, von Andrian UH. Dynamic visualization of thrombopoiesis within bone marrow. Science 2007; 317: 1767-1770.

- Grosse J, Braun A, Varga-Szabo D, Beyersdorf N, Schneider B, Zeitlmann L, Hanke, P, Schropp P, Mühlstedt S, Schmittwolf C, Jagla W, Yu P, Kerkau T, Schulze H, Nehls M, Nieswandt B. An EF hand mutation in Stim1 causes premature platelet activation and bleeding in mice. J Clin Invest 2007; 117: 3540-3550.

- Schulze H, Korpal M, Hurov J, Kim SW, Zhang, J, Cantley LC, Graf T, Shivdasani RA. Characterization of the megakaryocyte demarcation membrane system and its role in thrombopoiesis. Blood 2006; 107: 3868-3875.

- Patel SR, Richardson J, Schulze H, Kahle E, Galjart N, Drabek K, Shivdasani RA, Hartwig JH, Italiano JE Jr. Differential roles of microtubule assembly and sliding in proplatelet formation by megakaryocytes. Blood 2005, 106, 4076-4085.

- Schulze H, Korpal M, Bergmeier W, Italiano JE Jr, Wahl SM, Shivdasani, RA. Interactions between the megakaryocyte/platelet-specific beta1-tubulin and the secretory leukocyte protease inhibitor SLPI suggest a role for regulated proteolysis in platelet function. Blood 2004; 104: 3949-3957

- Schulze H, Ballmaier M, Welte K, Germeshausen M. Thrombopoietin Induces the Generation of Distinct Stat1, Stat3, Stat5a and Stat5b Homo- and Heterodimeric Complexes With Different Kinetics In Human Blood Platelets. Exp Hematol 2000; 28: 294-304

- Eilers M, Schulze H, Welte K, Ballmaier M. Thrombopoietin acts Synergistically on Ca2+ Mobilization in Platelets Caused by ADP or Thrombin Receptor Agonist Peptide. Biochem Biophys Res Commun 1999; 263: 230-238

 

Verschiedene Artikel

- Lachmann N*, Todorova K*, Schulze H**, Schönemann C**. Systematic comparison of four cell- and Luminex-based methods for assessment of complement-activating antibodies. (*, ** joint authorship) Transplantation 2013, 15;95(5):694-700.

- Stegh AH, Kim H, Bachoo RM, Forloney KL, Zhang J, Schulze H, DeFrances J, Park K, Hannon GJ, Yuan J, Louis DN, DePinho RA, Chin L. Bcl2L12 inhibits post-mitochondrial apoptosis signaling in glioblastoma. Genes and Development, 2007; 21(1): 98-111.

- Germeshausen M, Schulze H, Kratz C, Wilkens L, Repp R, Shannon K, Welte K, Ballmaier M. An acquried G-CSF receptor gene mutation results in increased proliferation of CMML cells from a patient with severe congenital neutropenia. Leukemia, 2005; 19(4): 611-617

- Germeshausen M, Ballmaier M, Schulze H, Welte K, Flohr T, Beiske K, Storm-Mathisen I, Abrahamsen T. Granulocyte Colony-Stimulating Factor Receptor Mutations in a Patient with Acute Lymphoblastic Leukemia Secondary to Severe Congenital Neutropenia. Blood 2001; 97: 829-830

- Germeshausen M, Schulze H, Ballmaier M, Zeidler C, Welte K. Mutations in the Gene Encoding Neutrophil Elastase (ELA2) are not Sufficient to Cause the Phenotype of Congenital Neutropenia. Br J Haematol. 2001; 115: 222-224