Blanche P. Alter - Search Results

Year	Number of Results
2002	7
2003	4
2004	6
2005	6
2006	10
2007	10
2008	7
2009	5
2010	9
2011	12
2012	10
2013	11
2014	15
2015	14
2016	12
2017	16
2018	10
2019	7
2020	11
2021	8
2022	7
2023	2
2024	0

1

Differential diagnosis of bone marrow failure syndromes guided by machine learning.

Gutierrez-Rodrigues F, Munger E, Ma X, Groarke EM, Tang Y, Patel BA, Catto LFB, Clé DV, Niewisch MR, Alves-Paiva RM, Donaires FS, Pinto AL, Borges G, Santana BA, McReynolds LJ, Giri N, Altintas B, Fan X, Shalhoub R, Siwy CM, Diamond C, Raffo DQ, Craft K, Kajigaya S, Summers RM, Liu P, Cunningham L, Hickstein DD, Dunbar CE, Pasquini R, De Oliveira MM, Velloso EDRP, Alter BP, Savage SA, Bonfim C, Wu CO, Calado RT, Young NS. Gutierrez-Rodrigues F, et al. Among authors: alter bp. Blood. 2023 Apr 27;141(17):2100-2113. doi: 10.1182/blood.2022017518. Blood. 2023. PMID: 36542832 Free PMC article.

2

Variable Clinical Features in a Large Family With Diamond Blackfan Anemia Caused by a Pathogenic Missense Mutation in RPS19.

Cole S, Giri N, Alter BP, Gianferante DM. Cole S, et al. Among authors: alter bp. Front Genet. 2022 Jul 18;13:914141. doi: 10.3389/fgene.2022.914141. eCollection 2022. Front Genet. 2022. PMID: 35923690 Free PMC article.

3

Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort.

Altintas B, Giri N, McReynolds LJ, Best A, Alter BP. Altintas B, et al. Among authors: alter bp. Haematologica. 2023 Jan 1;108(1):69-82. doi: 10.3324/haematol.2021.279981. Haematologica. 2023. PMID: 35417938 Free PMC article.

4

The incidence and spectrum of congenital hand differences in patients with Fanconi anaemia: analysis of 48 patients.

Bourke G, Wilks D, Kinsey S, Feltbower RG, Giri N, Alter BP. Bourke G, et al. Among authors: alter bp. J Hand Surg Eur Vol. 2022 Jul;47(7):711-715. doi: 10.1177/17531934221087521. Epub 2022 Mar 31. J Hand Surg Eur Vol. 2022. PMID: 35360980

5

Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features.

Thompson AS, Giri N, Gianferante DM, Jones K, Savage SA, Alter BP, McReynolds LJ. Thompson AS, et al. Among authors: alter bp. Pediatr Res. 2022 Dec;92(6):1671-1680. doi: 10.1038/s41390-022-02009-8. Epub 2022 Mar 23. Pediatr Res. 2022. PMID: 35322185 Free PMC article. Review.

6

Fanconi anaemia: A syndrome with distinct subgroups.

Alter BP, Giri N, McReynolds LJ, Altintas B. Alter BP, et al. Br J Haematol. 2022 May;197(4):467-474. doi: 10.1111/bjh.18091. Epub 2022 Feb 22. Br J Haematol. 2022. PMID: 35191533

7

Lipoprotein particle alterations due to androgen therapy in individuals with dyskeratosis congenita.

Thompson MB, Muldoon D, de Andrade KC, Giri N, Alter BP, Savage SA, Shamburek RD, Khincha PP. Thompson MB, et al. Among authors: alter bp. EBioMedicine. 2022 Jan;75:103760. doi: 10.1016/j.ebiom.2021.103760. Epub 2021 Dec 17. EBioMedicine. 2022. PMID: 34929494 Free PMC article.

8

Risk of cancer in heterozygous relatives of patients with Fanconi anemia.

McReynolds LJ, Giri N, Leathwood L, Risch MO, Carr AG, Alter BP. McReynolds LJ, et al. Among authors: alter bp. Genet Med. 2022 Jan;24(1):245-250. doi: 10.1016/j.gim.2021.08.013. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906449 Free article.

9

Disease progression and clinical outcomes in telomere biology disorders.

Niewisch MR, Giri N, McReynolds LJ, Alsaggaf R, Bhala S, Alter BP, Savage SA. Niewisch MR, et al. Among authors: alter bp. Blood. 2022 Mar 24;139(12):1807-1819. doi: 10.1182/blood.2021013523. Blood. 2022. PMID: 34852175 Free PMC article.

10

Genotype-cancer association in patients with Fanconi anemia due to pathogenic variants in FANCD1 (BRCA2) or FANCN (PALB2).

McReynolds LJ, Biswas K, Giri N, Sharan SK, Alter BP. McReynolds LJ, et al. Among authors: alter bp. Cancer Genet. 2021 Nov;258-259:101-109. doi: 10.1016/j.cancergen.2021.10.001. Epub 2021 Oct 4. Cancer Genet. 2021. PMID: 34687993 Free PMC article.

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