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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2013 1
2014 3
2015 5
2016 3
2017 4
2018 2
2019 3
2020 5
2021 2
2022 1
2024 0

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23 results

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Page 1
Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer.
Webster ALH, Sanders MA, Patel K, Dietrich R, Noonan RJ, Lach FP, White RR, Goldfarb A, Hadi K, Edwards MM, Donovan FX, Hoogenboezem RM, Jung M, Sridhar S, Wiley TF, Fedrigo O, Tian H, Rosiene J, Heineman T, Kennedy JA, Bean L, Rosti RO, Tryon R, Gonzalez AM, Rosenberg A, Luo JD, Carroll TS, Shroff S, Beaumont M, Velleuer E, Rastatter JC, Wells SI, Surrallés J, Bagby G, MacMillan ML, Wagner JE, Cancio M, Boulad F, Scognamiglio T, Vaughan R, Beaumont KG, Koren A, Imielinski M, Chandrasekharappa SC, Auerbach AD, Singh B, Kutler DI, Campbell PJ, Smogorzewska A. Webster ALH, et al. Nature. 2022 Dec;612(7940):495-502. doi: 10.1038/s41586-022-05253-4. Epub 2022 Nov 30. Nature. 2022. PMID: 36450981 Free PMC article.
A homozygous missense variant in UBE2T is associated with a mild Fanconi anemia phenotype.
Schultz-Rogers L, Lach FP, Rickman KA, Ferrer A, Mangaonkar AA, Schwab TL, Schmitz CT, Clark KJ, Dsouza NR, Zimmermann MT, Litzow M, Jacobi N, Klee EW, Smogorzewska A, Patnaik MM. Schultz-Rogers L, et al. Haematologica. 2021 Apr 1;106(4):1188-1192. doi: 10.3324/haematol.2020.259275. Haematologica. 2021. PMID: 32646888 Free PMC article. No abstract available.
Association of clinical severity with FANCB variant type in Fanconi anemia.
Jung M, Ramanagoudr-Bhojappa R, van Twest S, Rosti RO, Murphy V, Tan W, Donovan FX, Lach FP, Kimble DC, Jiang CS, Vaughan R, Mehta PA, Pierri F, Dufour C, Auerbach AD, Deans AJ, Smogorzewska A, Chandrasekharappa SC. Jung M, et al. Blood. 2020 Apr 30;135(18):1588-1602. doi: 10.1182/blood.2019003249. Blood. 2020. PMID: 32106311 Free PMC article.
Chromosome instability syndromes.
Taylor AMR, Rothblum-Oviatt C, Ellis NA, Hickson ID, Meyer S, Crawford TO, Smogorzewska A, Pietrucha B, Weemaes C, Stewart GS. Taylor AMR, et al. Nat Rev Dis Primers. 2019 Sep 19;5(1):64. doi: 10.1038/s41572-019-0113-0. Nat Rev Dis Primers. 2019. PMID: 31537806 Free PMC article. Review.
Chromosome instability syndromes.
[No authors listed] [No authors listed] Nat Rev Dis Primers. 2019 Sep 19;5(1):65. doi: 10.1038/s41572-019-0123-y. Nat Rev Dis Primers. 2019. PMID: 31537796 No abstract available.
A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India.
Donovan FX, Solanki A, Mori M, Chavan N, George M, C SK, Okuno Y, Muramastsu H, Yoshida K, Shimamoto A, Takaori-Kondo A, Yabe H, Ogawa S, Kojima S, Yabe M, Ramanagoudr-Bhojappa R, Smogorzewska A, Mohan S, Rajendran A, Auerbach AD, Takata M, Chandrasekharappa SC, Vundinti BR. Donovan FX, et al. Hum Mutat. 2020 Jan;41(1):122-128. doi: 10.1002/humu.23914. Epub 2019 Sep 26. Hum Mutat. 2020. PMID: 31513304 Free PMC article.
Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype.
Asur RS, Kimble DC, Lach FP, Jung M, Donovan FX, Kamat A, Noonan RJ, Thomas JW, Park M, Chines P, Vlachos A, Auerbach AD, Smogorzewska A, Chandrasekharappa SC. Asur RS, et al. Mol Genet Genomic Med. 2018 Jan;6(1):77-91. doi: 10.1002/mgg3.350. Epub 2017 Nov 30. Mol Genet Genomic Med. 2018. PMID: 29193904 Free PMC article.
23 results