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Year Number of Results
2014 1
2015 3
2016 2
2017 3
2018 4
2019 1
2020 1
2021 0
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10 results
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Page 1
Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia.
Bhar S, Zhou F, Reineke LC, Morris DK, Khincha PP, Giri N, Mirabello L, Bergstrom K, Lemon LD, Williams CL, Toh Y, Elghetany MT, Lloyd RE, Alter BP, Savage SA, Bertuch AA. Bhar S, et al. Hum Mutat. 2020 Nov;41(11):1918-1930. doi: 10.1002/humu.24092. Epub 2020 Aug 30. Hum Mutat. 2020. PMID: 32790018
Serum alpha fetoprotein levels in Fanconi anaemia.
Alter BP, Giri N. Alter BP, et al. Br J Haematol. 2019 Mar;184(6):1074-1076. doi: 10.1111/bjh.15517. Epub 2018 Aug 20. Br J Haematol. 2019. PMID: 30125993 Free PMC article. No abstract available.
Telomere length in inherited bone marrow failure syndromes.
Alter BP, Giri N, Savage SA, Rosenberg PS. Alter BP, et al. Haematologica. 2015 Jan;100(1):49-54. doi: 10.3324/haematol.2014.114389. Epub 2014 Oct 10. Haematologica. 2015. PMID: 25304614 Free PMC article.
Novel FANCI mutations in Fanconi anemia with VACTERL association.
Savage SA, Ballew BJ, Giri N; NCI DCEG Cancer Genomics Research Laboratory, Chandrasekharappa SC, Ameziane N, de Winter J, Alter BP; NCI DCEG Cancer Sequencing Working Group. Savage SA, et al. Am J Med Genet A. 2016 Feb;170A(2):386-391. doi: 10.1002/ajmg.a.37461. Epub 2015 Nov 21. Am J Med Genet A. 2016. PMID: 26590883 Free PMC article.