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Page 1
Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer.
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.
Esophageal cancer as initial presentation of Fanconi anemia in patients with a hypomorphic FANCA variant.
Lach FP, Singh S, Rickman KA, Ruiz PD, Noonan RJ, Hymes KB, DeLacure MD, Kennedy JA, Chandrasekharappa SC, Smogorzewska A.
Lach FP, et al. Among authors: noonan rj.
Cold Spring Harb Mol Case Stud. 2020 Dec 17;6(6):a005595. doi: 10.1101/mcs.a005595. Print 2020 Dec.
Cold Spring Harb Mol Case Stud. 2020.
PMID: 33172906
Free PMC article.
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Distinct roles of BRCA2 in replication fork protection in response to hydroxyurea and DNA interstrand cross-links.
Rickman KA, Noonan RJ, Lach FP, Sridhar S, Wang AT, Abhyankar A, Huang A, Kelly M, Auerbach AD, Smogorzewska A.
Rickman KA, et al. Among authors: noonan rj.
Genes Dev. 2020 Jun 1;34(11-12):832-846. doi: 10.1101/gad.336446.120. Epub 2020 Apr 30.
Genes Dev. 2020.
PMID: 32354836
Free PMC article.
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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. Among authors: noonan rj.
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.
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