Selected Publications
Sharma R, Sahoo SS, Honda M, Granger SL, Goodings C (et al) Coulon S, Wlodarski MW. Gain-of-Function Mutations in RPA1 Cause a Syndrome with Short Telomeres and Somatic Genetic Rescue. Blood Nov 12, 2021.
Sahoo SS, Pastor VB, (et al) Niemeyer CM, Wlodarski MW. Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes. Nat Med Oct;27(10):1806-1817, 2021.
Hu Y, Caldwell KJ, Onciu M, Federico SM, Salek M, Lewis S, Lei S, Zhang J, Nichols KE, Takemoto C, Triplett BM, Farrar JE, Rubnitz JE, Ribeiro RC, Wlodarski MW. CPX-351 Induces Remission in Newly Diagnosed Pediatric Secondary Myeloid Malignancies. Blood Adv Oct 28, 2021.
Kozyra EJ, Gohring G, Hickstein DD, (et al) Niemeyer CM, Schlegelberger B, Yoshimi A, Wlodarski MW. Association of Unbalanced Translocation der(1;7) with Germline GATA2 Mutations. Blood Sep 1, 2021.
Lesmana H, Jacobs T , Boals M, Gray N, Lewis S, Ding J, Kang G, Hale M, Weiss M, Reiss U, Wang W, Wlodarski MW. Eltrombopag in children with severe aplastic anemia. Pediatr Blood Cancer Apr 15, 2021.
Kozyra EJ, Pastor VB, (et al) Niemeyer CM, Trompouki E, Wlodarski MW. Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency. Leukemia Oct;34(10):2673-2687, 2020.
Nakano TA, Lau BW, Dickerson KE, Wlodarski MW, Pollard J, Shimamura A, Hofmann I, Sasa G, Elghetany T, Cada M, Dror Y, Ding H, Allen SW, Hanna R, Campbell K, Olson TS. Diagnosis and treatment of pediatric myelodysplastic syndromes: A survey of the North American Pediatric Aplastic Anemia Consortium. Pediatr Blood Cancer Oct;67(10):e28652, 2020.
Kreutmair S, Erlacher M, (et al) Klingeberg C, Wlodarski M, Baumann I, Pfeifer D, Kulinski M, Rudelius M, Lemeer S, Kuster B, Dierks C, Peschel C, Cabezas-Wallscheid N, Duque-Afonso J, Zeiser R, Cleary ML, Schindler D, Schmitt-Graeff A, Boerries M, Niemeyer CM, Oostendorp RA, Duyster J, Illert AL. Loss of the Fanconi anemia-associated protein NIPA causes bone marrow failure. J Clin Invest Jun 1;130(6):2827-2844, 2020.
Bianchi P, Fermo E, Lezon-Geyda K, (et al), Wlodarski MW, Yaish HM, Holzhauer S, Wang H, Kunz J, Addonizio K, Al-Sayegh H, London WB, Andres O, van Wijk R, Gallagher PG, Grace RFF. Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency. Am J Hematol May;95(5):472-482, 2020.
Strahm B, Loewecke F, Niemeyer CM, Albert M, Ansari M, Bader P, Bertrand Y, Burkhardt B, Da Costa LM, Ferster A, Fischer A, Güngör T, Gruhn B, Hainmann I, Kapp F, Lang P, Müller I, Schulz A, Szvetnik A, Wlodarski M, Noellke P, Leblanc T, Dalle JH. Favorable outcomes of hematopoietic stem cell transplantation in children and adolescents with Diamond-Blackfan anemia. Blood Adv Apr 28;4(8):1760-1769, 2020.
Gianferante DM, Wlodarski MW, Atsidaftos E, Da Costa L, Delaporta P, Farrar JE, Goldman FD, Hussain M, Kattamis A, Leblanc T, Lipton JM, Niemeyer CM, Pospisilova D, Quarello P, Ramenghi U, Sankaran VG, Vlachos A, Volejnikova J, Alter BP, Savage SA, Giri N. Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A. Haematologica Apr 2, 2020.
Lezzerini M, Penzo M, O'Donohue MF, (et al) Houtkooper RH, Wlodarski MW, Kuiper RP, Bierings MB, van der Werff Ten Bosch J, Leblanc T, Montanaro L, Dinman JD, Da Costa L, Gleizes PE, MacInnes AW. Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism. Nucleic Acids Res Jan 24;48(2):770-787, 2020.
Krombholz CF, Gallego-Villar L, Sahoo SS, Panda PK, Wlodarski MW, Aumann K, Hartmann M, Lipka DB, Daskalakis M, Plass C, Niemeyer CM, Erlacher M, Flotho C. Azacitidine is effective for targeting leukemia-initiating cells in juvenile myelomonocytic leukemia. Leukemia Jul;33(7):1805-1810, 2019.
Duijkers FA, McDonald A, (et al), Wlodarski MW, Moutton S, Tran-Mau-Them F, Thauvin-Robinet C, Faivre L, Monaghan KG, Smol T, Boute-Benejean O, Ladda RL, Sell SL, Bruel AL, Houtkooper RH, MacInnes AW. HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans. Am J Hum Genet Jun 6;104(6):1040-1059, 2019.
Abdulhay NJ, Fiorini C, Verboon JM, Ludwig LS, Ulirsch JC, Zieger B, Lareau CA, Mi X, Roy A, Obeng EA, Erlacher M, Gupta N, Gabriel SB, Ebert BL, Niemeyer CM, Khoriaty RN, Ancliff P, Gazda HT, Wlodarski MW, Sankaran VG. Impaired human hematopoiesis due to a cryptic intronic GATA1 splicing mutation. J Exp Med May 6;216(5):1050-1060, 2019.
Siva K, Ek F, Chen J, Ghani Alattar A, Sigmundsson K, Olsson R, Wlodarski M, Lundbäck T, Flygare J. A Phenotypic Screening Assay Identifies Modulators of Diamond Blackfan Anemia. SLAS Discov Mar;24(3):304-313, 2019.
Nagata Y, Narumi S, Guan Y, Przychodzen BP, Hirsch CM, Makishima H, Shima H, Aly M, Pastor V, Kuzmanovic T, Radivoyevitch T, Adema V, Awada H, Yoshida K, Li S, Sole F, Hanna R, Jha BK, LaFramboise T, Ogawa S, Sekeres MA, Wlodarski MW, Cammenga J, Maciejewski JP. Germline loss-of-function SAMD9 and SAMD9L alterations in adult myelodysplastic syndromes. Blood Nov 22;132(21):2309-2313, 2018.
Piragyte I, Clapes T, (et al), Wlodarski MW, Müller P,Van Essen D, Rambold A, Kapp FG, Mione M, Buescher JM, Pearce EL, Polyzos A,Trompouki E. A metabolic interplay coordinated by HLX regulates myeloiddifferentiation and AML through partly overlapping pathways. Nat Commun Aug 6, 2018.
Wlodarski MW, Sahoo SS, Niemeyer CM. Monosomy 7 in Pediatric Myelodysplastic Syndromes. Hematol Oncol Clin North Am Aug 2018.
Kirschner M, Maurer A, Wlodarski MW, (et al) Kurth I, Schemionek M, Bruemmendorf T, Beier T. Recurrent somatic mutations are rare in patients with cryptic dyskeratosis congenita. Leukemia April 2, 2018.
Al Seraihi A, Rio-Machin A, Tawana K (et al) Wlodarski MW, Niemeyer CM, Scott H, Hahn C, Ellison A, Tummala H, Cardoso SR, Vuliamy T, Dokal I, Butler T, Smith M, Cavenagh J, Fitzgibbon J. GATA2 Monoallelic Expression Underlies Reduced Penetrance in Inherited GATA2-2 mutated MDS/AML. Leukemia April 19, 2018.
Wlodarski MW (corresponding), Da Costa L (et al) Gleizes PE, MacInnes A. Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia. Haematologica Mar 29, 2018. PMID: 29599205
Grace RF, Bianchi P, (et al) Wlodarski MW, Wang H, Holzhauer S, Breakey VR, Kunz J, Sheth S, Rose MJ, Bradeen HA, Neu N, Guo D, Al-Sayegh H, London WB, Gallagher PG, Zanella A, Barcellini W. The clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study. Blood Mar 16, 2018. PMID: 29549173
Pastor VB, Sahoo S, (et al), Niemeyer CM, Wlodarski MW. Constitutional SAMD9L Mutations Cause Familial Myelodysplastic Syndrome and Transient Monosomy 7. Haematologica Mar;103(3):427-437, 2018. PMID: 29217778
Lipka DB, Witte T, Toth R, Yang J, Wiesenfarth M, Nöllke P, Fischer A, Brocks D, Gu Z, Park J, Strahm B, Wlodarski M, (et al), Niemeyer C, Flotho C, Plass C. RAS-pathway mutation patterns define epigenetic subclasses in juvenile myelomonocytic leukemia. Nat Commun Dec 19;8(1):2126, 2017. PMID: 29259247.234wd
Aspesi A, Monteleone V, Betti M, Actis C, Morleo G, Sculco M, Guarrera S, Wlodarski MW, Ramenghi U, Santoro C, Ellis SR, Loreni F, Follenzi A, Dianzani I. Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy. Sci Rep Sep 20;7(1):12010, 2017. PMID: 28931864
Schwartz JR, Wang S, Ma J, Lamprecht T, Walsh M, Song G, Raimondi SC, Wu G, Walsh MF, McGee RB, Kesserwan C, Nichols KE, Cauff BE, Ribeiro RC, Wlodarski M (*equal corresponding), Klco JM (*). Germline SAMD9 mutation in siblings with monosomy 7 and myelodysplastic syndrome. Leukemia Aug;31(8):1827-1830, 2017. PMID: 28487541
Speckmann C, Sahoo SS, Rizzi M, (et al), Boztug K, Wlodarski MW. Clinical and Molecular Heterogeneity of RTEL1 Deficiency. Front Immunol May 1;8:449, 2017. PMID: 28507545
Buonocore F, Kühnen P, Suntharalingham JP (et al), Wlodarski MW, Chen W, Kokai GK, Anderson G, Morrogh D, Moulding DA, McKee SA, Niemeyer CM, Grüters A, Achermann JC. Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans. J Clin Invest May 1;127(5):1700-1713, 2017. PMID: 28346228
Paolini NA, Attwood M, (et al), Wlodarski MW, Houtkooper RH, von Lindern M, Kuijpers TW, Dinman JD, Baserga SJ, Cockman ME, MacInnes AW. A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism. Am J Hum Genet Mar 2;100(3):506-522, 2017. PMID: 28257692
Pastor V, Hirabayashi S, Karow A, Wehrle J (et al) Niemeyer CM, Wlodarski M. Mutational landscape in children with myelodysplastic syndromes is distinct from adults: specific somatic drivers and novel germline variants. Leukemia Dec 9, 2016. doi: 10.1038/leu.2016.342. PMID: 27876779
Wlodarski MW (corresponding), Hirabayashi S, Pastor V, Starý J, Hasle H, Masetti R, Dworzak M (et al), Locatelli F, Baumann I, Strahm B, Niemeyer CM. Prevalence, clinical characteristics and prognosis of GATA2-related myelodysplastic syndromes (MDS) in children and adolescents. Blood Mar 17, 2016. PMID: 26702063
Weidner CI, Lin Q, Birkhofer C, Gerstenmaier U, Kaifie A, Kirschner M, Bruns H, Balabanov S, Trummer A, Stockklausner C, Höchsmann B, Schrezenmeier H, Wlodarski M, Panse J, Brümmendorf TH, Beier F, Wagner W. DNA methylation in PRDM8 is indicative for dyskeratosis congenita. Oncotarget Mar 8, 2016. PMID: 26909595
Sjögren SE, Siva K, Soneji S, George AJ, Winkler M, Jaako P, Wlodarski M, Karlsson S, Hannan RD, Flygare J. Glucocorticoids improve erythroid progenitor maintenance and dampen Trp53 response in a mouse model of Diamond-Blackfan anaemia. Br J Haematol Nov;171(4):517-29, 2015. PMID:26305041
Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HC, Gambin T, Elgstøen KB, Bjørås M, Wlodarski MW, (et al) Lausch E, Hanson IC. PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia. Am J Hum Genet Jul 3;95(1):96-107, 2014. PMID: 24931394
Clemente MJ, Przychodzen B, Jerez A, Dienes BE, Afable MG, Husseinzadeh H, Rajala HL, Wlodarski MW, Mustjoki S, Maciejewski JP. Deep sequencing of the T-cell receptor repertoire in CD8+ T-large granular lymphocyte leukemia identifies signature landscapes. Blood Dec 12;122(25):4077-85, 2013. PMID: 24149287
Hirabayashi S, Flotho C, Moetter J, Heuser M, Hasle H, (et al) Niemeyer CM and Wlodarski MW. Spliceosomal gene aberrations are rare, coexist with oncogenic mutations, and are unlikely to exert a driver effect in childhood MDS and JMML. Blood Mar 15;119(11):e96-9, 2012. PMID: 22238327
Meyer S, Bristow C, (et al) Hanenberg H, Neitzel H, Wlodarski MW, Ebell W, Tönnies H. Fanconi anemia (FA)-associated 3q gains in leukemic transformation consistently target EVI1, but do not affect low TERC expression in FA. Blood Jun 2;117(22):6047-50, 2011. PMID: 21636719.
Clemente MJ, Wlodarski MW, Makishima H, Viny AD, (et al), Loughran TP Jr, Maciejewski JP. Clonal drift demonstrates unexpected dynamics of the T-cell repertoire in T-large granular lymphocyte leukemia. Blood Oct 20;118(16):4384-93, 2011. PMID: 21865345.
Wlodarski MW, Mötter J, Gorr TA, Olk-Batz C, Hasle H, Dworzak M, Niemeyer CM, Flotho C. Abnormal promoter DNA methylation in juvenile myelomonocytic leukemia is not caused by mutation in DNMT3A. Blood Oct 20;118(16):4490-1, 2011. PMID: 22021454.
Afable MG 2nd*, Wlodarski M*,(*equal contribution) Makishima H, Shaik M, Sekeres MA, Tiu RV, Kalaycio M, O'Keefe CL, Maciejewski JP. SNP array-based karyotyping: differences and similarities between aplastic anemia and hypocellular myelodysplastic syndromes. Blood Jun 23;117(25):6876-84, 2011. PMID: 21527527.
Loh ML, Sakai DS, Flotho C, (et al) Locatelli F, Stary J, Trebo M, Wlodarski M, Zecca M, Shannon KM, Niemeyer CM. Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. Blood Aug 27;114(9):1859-63, 2009. PMID: 19571318.
Wlodarski MW, Nearman Z, Jiang Y, Lichtin A, Maciejewski JP. Clonal predominance of CD8(+) T cells in patients with unexplained neutropenia. Exp Hematol Mar;36(3):293-300, 2008. PMID: 18279717.
Wlodarski MW, Nearman Z, Jankowska A, Babel N, Powers J, Leahy P, Volk HD, Maciejewski JP. Phenotypic differences between healthy effector CTL and leukemic LGL cells support the notion of antigen-triggered clonal transformation in T-LGL leukemia. J Leukoc Biol Mar;83(3):589-601, 2008. PMID: 18086899.
Wlodarski MW, Gondek LP, Nearman ZP, Plasilova M, Kalaycio M, Hsi ED, Maciejewski JP. Molecular strategies for detection and quantitation of clonal cytotoxic T-cell responses in aplastic anemia and myelodysplastic syndrome. Blood Oct 15;108(8):2632-41, 2006. PMID: 16614248.
Wlodarski MW, O'Keefe C, Howe EC, Risitano AM, Rodriguez A, Warshawsky I, Loughran TP Jr, Maciejewski JP. Pathologic clonal cytotoxic T-cell responses: nonrandom nature of the T-cell-receptor restriction in large granular lymphocyte leukemia. Blood Oct 15;106(8):2769-80, 2005. PMID: 15914562.
Demuth I, Wlodarski M, Tipping AJ, Morgan NV, (et al) Joenje H, Sperling K, Digweed M. Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9. Eur J Hum Genet Nov;8(11):861-8, 2000. PMID: 11093276.
Last update: November 2021