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Page 1
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.
Nat Commun. 2020 Feb 25;11(1):1044. doi: 10.1038/s41467-020-14829-5.
Nat Commun. 2020.
PMID: 32098966
Free PMC article.
Acquired somatic variants in inherited myeloid malignancies.
Armes H, Rio-Machin A, Krizsán S, Bödör C, Kaya F, Bewicke-Copley F, Alnajar J, Walne A, Péterffy B, Tummala H, Rouault-Pierre K, Dokal I, Vulliamy T, Fitzgibbon J.
Armes H, et al. Among authors: alnajar j.
Leukemia. 2022 May;36(5):1377-1381. doi: 10.1038/s41375-022-01515-2. Epub 2022 Feb 9.
Leukemia. 2022.
PMID: 35140362
Free PMC article.
No abstract available.
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Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.
Tummala H, Walne A, Buccafusca R, Alnajar J, Szabo A, Robinson P, McConkie-Rosell A, Wilson M, Crowley S, Kinsler V, Ewins AM, Madapura PM, Patel M, Pontikos N, Codd V, Vulliamy T, Dokal I.
Tummala H, et al. Among authors: alnajar j.
Am J Hum Genet. 2022 Aug 4;109(8):1472-1483. doi: 10.1016/j.ajhg.2022.06.014.
Am J Hum Genet. 2022.
PMID: 35931051
Free PMC article.
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Genome-wide whole-blood transcriptome profiling across inherited bone marrow failure subtypes.
Walne AJ, Vulliamy T, Bewicke-Copley F, Wang J, Alnajar J, Bridger MG, Ma B, Tummala H, Dokal I.
Walne AJ, et al. Among authors: alnajar j.
Blood Adv. 2021 Dec 14;5(23):5360-5371. doi: 10.1182/bloodadvances.2021005360.
Blood Adv. 2021.
PMID: 34625797
Free PMC article.
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High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders.
Norris K, Walne AJ, Ponsford MJ, Cleal K, Grimstead JW, Ellison A, Alnajar J, Dokal I, Vulliamy T, Baird DM.
Norris K, et al. Among authors: alnajar j.
Hum Genet. 2021 Jun;140(6):945-955. doi: 10.1007/s00439-021-02257-4. Epub 2021 Mar 11.
Hum Genet. 2021.
PMID: 33709208
Free PMC article.
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