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Year Number of Results
1993 1
2009 1
2012 1
2017 1
2019 1
2021 2
2022 2
2023 6
2024 7
2025 6

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24 results

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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: niewisch mr. 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.
Dyskeratosis Congenita and Related Telomere Biology Disorders.
Savage SA, Niewisch MR. Savage SA, et al. Among authors: niewisch mr. 2009 Nov 12 [updated 2023 Jan 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2009 Nov 12 [updated 2023 Jan 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301779 Free Books & Documents. Review.
Differential diagnosis of bone marrow failure syndromes guided by machine learning.
Gutierrez-Rodrigues F, Munger E, Ma X, Groarke EM, Tang Y, Patel BA, Catto LFB, Clé DV, Niewisch MR, Alves-Paiva RM, Donaires FS, Pinto AL, Borges G, Santana BA, McReynolds LJ, Giri N, Altintas B, Fan X, Shalhoub R, Siwy CM, Diamond C, Raffo DQ, Craft K, Kajigaya S, Summers RM, Liu P, Cunningham L, Hickstein DD, Dunbar CE, Pasquini R, De Oliveira MM, Velloso EDRP, Alter BP, Savage SA, Bonfim C, Wu CO, Calado RT, Young NS. Gutierrez-Rodrigues F, et al. Among authors: niewisch mr. Blood. 2023 Apr 27;141(17):2100-2113. doi: 10.1182/blood.2022017518. Blood. 2023. PMID: 36542832 Free PMC article.
Clinical manifestations of telomere biology disorders in adults.
Niewisch MR, Beier F, Savage SA. Niewisch MR, et al. Hematology Am Soc Hematol Educ Program. 2023 Dec 8;2023(1):563-572. doi: 10.1182/hematology.2023000490. Hematology Am Soc Hematol Educ Program. 2023. PMID: 38066848 Free PMC article. Review.
Clonal landscape and clinical outcomes of telomere biology disorders: somatic rescue and cancer mutations.
Gutierrez-Rodrigues F, Groarke EM, Thongon N, Rodriguez-Sevilla JJ, Catto LFB, Niewisch MR, Shalhoub R, McReynolds LJ, Clé DV, Patel BA, Ma X, Hironaka D, Donaires FS, Spitofsky N, Santana BA, Lai TP, Alemu L, Kajigaya S, Darden I, Zhou W, Browne PV, Paul S, Lack J, Young DJ, DiNardo CD, Aviv A, Ma F, De Oliveira MM, de Azambuja AP, Dunbar CE, Olszewska M, Olivier E, Papapetrou EP, Giri N, Alter BP, Bonfim C, Wu CO, Garcia-Manero G, Savage SA, Young NS, Colla S, Calado RT. Gutierrez-Rodrigues F, et al. Among authors: niewisch mr. Blood. 2024 Dec 5;144(23):2402-2416. doi: 10.1182/blood.2024025023. Blood. 2024. PMID: 39316766
Liver disease and transplantation in telomere biology disorders: An international multicenter cohort.
Wang YM, Kaj-Carbaidwala B, Lane A, Agarwal S, Beier F, Bertuch A, Borovsky KA, Brennan SK, Calado RT, Catto LFB, Dufour C, Ebens CL, Fioredda F, Giri N, Gloude N, Goldman F, Hertel PM, Himes R, Keel SB, Koura DT, Kratz CP, Kulkarni S, Liou I, Nakano TA, Nastasio S, Niewisch MR, Penrice DD, Sasa GS, Savage SA, Simonetto DA, Ziegler DS, Miethke AG, Myers KC; Clinical Care Consortium for Telomere-associated Ailments (CCCTAA). Wang YM, et al. Among authors: niewisch mr. Hepatol Commun. 2024 Jun 19;8(7):e0462. doi: 10.1097/HC9.0000000000000462. eCollection 2024 Jul 1. Hepatol Commun. 2024. PMID: 38896081 Free PMC article.
PUMA-induced apoptosis drives bone marrow failure and genomic instability in telomerase-deficient mice.
Molnar C, Rajak J, Weiss JM, Gonzalez-Menendez I, Andrieux G, Schreiber F, Kornemann EM, Wendeburg L, Göhring G, Strahm B, Beier F, Steinemann D, Börries M, Rudelius M, Quintanilla-Martinez L, Niemeyer CM, Niewisch MR, Labi V, Bohler S, Erlacher M. Molnar C, et al. Among authors: niewisch mr. Cell Death Differ. 2025 Aug 19. doi: 10.1038/s41418-025-01557-w. Online ahead of print. Cell Death Differ. 2025. PMID: 40830245
24 results