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Germline RTEL1 Variants in Telomere Biology Disorders.
Thompson AS, Niewisch MR, Giri N, McReynolds LJ, Savage SA. Thompson AS, et al. Among authors: giri n. Am J Med Genet A. 2024 Sep 16:e63882. doi: 10.1002/ajmg.a.63882. Online ahead of print. Am J Med Genet A. 2024. PMID: 39279436
Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder.
Kvarnung M, Pettersson M, Chun-On P, Rafati M, McReynolds LJ, Norberg A, Moura PL, Pesonen I, Chaireti R, Grönros Söderholm B, Burlin J, Rydén J, Lindberg EH, Giri N, Savage SA, Agarwal S, Nordgren A, Tesi B. Kvarnung M, et al. Among authors: giri n. Eur J Hum Genet. 2024 Nov 30. doi: 10.1038/s41431-024-01722-8. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39616267
Clonal landscape and clinical outcomes of telomere biology disorders: somatic rescuing and cancer mutations.
Gutierrez-Rodrigues F, Groarke EM, Thongon N, Rodriguez-Sevilla JJ, Bazzo Catto LF, Niewisch MR, Shalhoub RN, McReynolds LJ, Clé DV, Patel BA, Ma X, Hironaka D, Donaires FS, Spitofsky NR, 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, Michels de Oliveira M, Azambuja AP, Dunbar CE, Olszewska M, Olivier E, Papapetrou EP, Giri N, Alter BP, Bonfim CMS, Wu CO, Garcia-Manero G, Savage SA, Young NS, Colla S, Calado RT. Gutierrez-Rodrigues F, et al. Among authors: giri n. Blood. 2024 Sep 24:blood.2024025023. doi: 10.1182/blood.2024025023. Online ahead of print. Blood. 2024. PMID: 39316766
235 results