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A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation.
Gutierrez-Rodrigues F, Masri N, Chouery E, Diamond C, Jalkh N, Vicente A, Kajigaya S, Abillama F, Bejjani N, Serhal W, Calado RT, Young NS, Farhat H, Coussa ML. Gutierrez-Rodrigues F, et al. Among authors: diamond c. Hum Genet. 2019 Dec;138(11-12):1323-1330. doi: 10.1007/s00439-019-02076-8. Epub 2019 Nov 1. Hum Genet. 2019. PMID: 31677132 Free PMC article.
Single-cell profiling of T lymphocytes in deficiency of adenosine deaminase 2.
Wu Z, Gao S, Watanabe N, Batchu S, Kajigaya S, Diamond C, Alemu L, Raffo DQ, Feng X, Hoffmann P, Stone D, Ombrello A, Young NS. Wu Z, et al. Among authors: diamond c. J Leukoc Biol. 2022 Feb;111(2):301-312. doi: 10.1002/JLB.5A0621-314R. Epub 2021 Nov 3. J Leukoc Biol. 2022. PMID: 34730257
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: diamond c. Blood. 2023 Apr 27;141(17):2100-2113. doi: 10.1182/blood.2022017518. Blood. 2023. PMID: 36542832 Free PMC article.
Crucial role for the VWF A1 domain in binding to type IV collagen.
Flood VH, Schlauderaff AC, Haberichter SL, Slobodianuk TL, Jacobi PM, Bellissimo DB, Christopherson PA, Friedman KD, Gill JC, Hoffmann RG, Montgomery RR; Zimmerman Program Investigators. Flood VH, et al. Blood. 2015 Apr 2;125(14):2297-304. doi: 10.1182/blood-2014-11-610824. Epub 2015 Feb 6. Blood. 2015. PMID: 25662333 Free PMC article.
Laboratory variability in the diagnosis of type 2 VWD variants.
DiGiandomenico S, Christopherson PA, Haberichter SL, Abshire TC, Montgomery RR, Flood VH; Zimmerman Program Investigators. DiGiandomenico S, et al. J Thromb Haemost. 2021 Jan;19(1):131-138. doi: 10.1111/jth.15129. Epub 2020 Nov 10. J Thromb Haemost. 2021. PMID: 33049112 Free PMC article.
224 results