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Page 1
Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes.
Sahoo SS, Pastor VB, Goodings C, Voss RK, Kozyra EJ, Szvetnik A, Noellke P, Dworzak M, Starý J, Locatelli F, Masetti R, Schmugge M, De Moerloose B, Catala A, Kállay K, Turkiewicz D, Hasle H, Buechner J, Jahnukainen K, Ussowicz M, Polychronopoulou S, Smith OP, Fabri O, Barzilai S, de Haas V, Baumann I, Schwarz-Furlan S; European Working Group of MDS in Children (EWOG-MDS); Niewisch MR, Sauer MG, Burkhardt B, Lang P, Bader P, Beier R, Müller I, Albert MH, Meisel R, Schulz A, Cario G, Panda PK, Wehrle J, Hirabayashi S, Derecka M, Durruthy-Durruthy R, Göhring G, Yoshimi-Noellke A, Ku M, Lebrecht D, Erlacher M, Flotho C, Strahm B, Niemeyer CM, Wlodarski MW. Sahoo SS, et al. Among authors: pastor vb. Nat Med. 2021 Oct;27(10):1806-1817. doi: 10.1038/s41591-021-01511-6. Epub 2021 Oct 7. Nat Med. 2021. PMID: 34621053 Free PMC article.
Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency.
Kozyra EJ, Pastor VB, Lefkopoulos S, Sahoo SS, Busch H, Voss RK, Erlacher M, Lebrecht D, Szvetnik EA, Hirabayashi S, Pasaulienė R, Pedace L, Tartaglia M, Klemann C, Metzger P, Boerries M, Catala A, Hasle H, de Haas V, Kállay K, Masetti R, De Moerloose B, Dworzak M, Schmugge M, Smith O, Starý J, Mejstrikova E, Ussowicz M, Morris E, Singh P, Collin M, Derecka M, Göhring G, Flotho C, Strahm B, Locatelli F, Niemeyer CM, Trompouki E, Wlodarski MW; European Working Group of MDS in Childhood (EWOG-MDS). Kozyra EJ, et al. Among authors: pastor vb. Leukemia. 2020 Oct;34(10):2673-2687. doi: 10.1038/s41375-020-0899-5. Epub 2020 Jun 18. Leukemia. 2020. PMID: 32555368 Free PMC article.
Publisher Correction: Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes.
Sahoo SS, Pastor VB, Goodings C, Voss RK, Kozyra EJ, Szvetnik A, Noellke P, Dworzak M, Starý J, Locatelli F, Masetti R, Schmugge M, De Moerloose B, Catala A, Kállay K, Turkiewicz D, Hasle H, Buechner J, Jahnukainen K, Ussowicz M, Polychronopoulou S, Smith OP, Fabri O, Barzilai S, de Haas V, Baumann I, Schwarz-Furlan S; European Working Group of MDS in Children (EWOG-MDS); Niewisch MR, Sauer MG, Burkhardt B, Lang P, Bader P, Beier R, Müller I, Albert MH, Meisel R, Schulz A, Cario G, Panda PK, Wehrle J, Hirabayashi S, Derecka M, Durruthy-Durruthy R, Göhring G, Yoshimi-Noellke A, Ku M, Lebrecht D, Erlacher M, Flotho C, Strahm B, Niemeyer CM, Wlodarski MW. Sahoo SS, et al. Among authors: pastor vb. Nat Med. 2021 Dec;27(12):2248. doi: 10.1038/s41591-021-01632-y. Nat Med. 2021. PMID: 34799732 No abstract available.
Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents.
Wlodarski MW, Hirabayashi S, Pastor V, Starý J, Hasle H, Masetti R, Dworzak M, Schmugge M, van den Heuvel-Eibrink M, Ussowicz M, De Moerloose B, Catala A, Smith OP, Sedlacek P, Lankester AC, Zecca M, Bordon V, Matthes-Martin S, Abrahamsson J, Kühl JS, Sykora KW, Albert MH, Przychodzien B, Maciejewski JP, Schwarz S, Göhring G, Schlegelberger B, Cseh A, Noellke P, Yoshimi A, Locatelli F, Baumann I, Strahm B, Niemeyer CM; EWOG-MDS. Wlodarski MW, et al. Blood. 2016 Mar 17;127(11):1387-97; quiz 1518. doi: 10.1182/blood-2015-09-669937. Epub 2015 Dec 23. Blood. 2016. PMID: 26702063 Free article.
Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.
Pastor VB, Sahoo SS, Boklan J, Schwabe GC, Saribeyoglu E, Strahm B, Lebrecht D, Voss M, Bryceson YT, Erlacher M, Ehninger G, Niewisch M, Schlegelberger B, Baumann I, Achermann JC, Shimamura A, Hochrein J, Tedgård U, Nilsson L, Hasle H, Boerries M, Busch H, Niemeyer CM, Wlodarski MW. Pastor VB, et al. Haematologica. 2018 Mar;103(3):427-437. doi: 10.3324/haematol.2017.180778. Epub 2017 Dec 7. Haematologica. 2018. PMID: 29217778 Free PMC article. Clinical Trial.
Association of unbalanced translocation der(1;7) with germline GATA2 mutations.
Kozyra EJ, Göhring G, Hickstein DD, Calvo KR, DiNardo CD, Dworzak M, de Haas V, Starý J, Hasle H, Shimamura A, Fleming MD, Inaba H, Lewis S, Hsu AP, Holland SM, Arnold DE, Mecucci C, Keel SB, Bertuch AA, Tawana K, Barzilai S, Hirabayashi S, Onozawa M, Lei S, Alaiz H, Andrikovics H, Betts D, Beverloo BH, Buechner J, Čermák M, Cervera J, Haus O, Jahnukainen K, Manola KN, Nebral K, Pasquali F, Tchinda J, Turkiewicz D, Van Roy N, Zemanova Z, Pastor VB, Strahm B, Noellke P, Niemeyer CM, Schlegelberger B, Yoshimi A, Wlodarski MW. Kozyra EJ, et al. Among authors: pastor vb. Blood. 2021 Dec 9;138(23):2441-2445. doi: 10.1182/blood.2021012781. Blood. 2021. PMID: 34469508 Free PMC article. No abstract available.
Mutational landscape in children with myelodysplastic syndromes is distinct from adults: specific somatic drivers and novel germline variants.
Pastor V, Hirabayashi S, Karow A, Wehrle J, Kozyra EJ, Nienhold R, Ruzaike G, Lebrecht D, Yoshimi A, Niewisch M, Ripperger T, Göhring G, Baumann I, Schwarz S, Strahm B, Flotho C, Skoda RC, Niemeyer CM, Wlodarski MW. Pastor V, et al. Leukemia. 2017 Mar;31(3):759-762. doi: 10.1038/leu.2016.342. Epub 2016 Nov 23. Leukemia. 2017. PMID: 27876779 No abstract available.
Mutational Spectrum of Fanconi Anemia Associated Myeloid Neoplasms.
Chao MM, Thomay K, Goehring G, Wlodarski M, Pastor V, Schlegelberger B, Schindler D, Kratz CP, Niemeyer C. Chao MM, et al. Klin Padiatr. 2017 Nov;229(6):329-334. doi: 10.1055/s-0043-117046. Epub 2017 Nov 13. Klin Padiatr. 2017. PMID: 29132164 English.
Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue.
Sharma R, Sahoo SS, Honda M, Granger SL, Goodings C, Sanchez L, Künstner A, Busch H, Beier F, Pruett-Miller SM, Valentine MB, Fernandez AG, Chang TC, Géli V, Churikov D, Hirschi S, Pastor VB, Boerries M, Lauten M, Kelaidi C, Cooper MA, Nicholas S, Rosenfeld JA, Polychronopoulou S, Kannengiesser C, Saintomé C, Niemeyer CM, Revy P, Wold MS, Spies M, Erlacher M, Coulon S, Wlodarski MW. Sharma R, et al. Among authors: pastor vb. Blood. 2022 Feb 17;139(7):1039-1051. doi: 10.1182/blood.2021011980. Blood. 2022. PMID: 34767620 Free PMC article.
Germline loss-of-function SAMD9 and SAMD9L alterations in adult myelodysplastic syndromes.
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. Nagata Y, et al. Blood. 2018 Nov 22;132(21):2309-2313. doi: 10.1182/blood-2017-05-787390. Epub 2018 Oct 15. Blood. 2018. PMID: 30322869 Free PMC article. No abstract available.
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