Page 90 - 2021_05-Haematologica-web

D.M. Gianferante et al.
and future. Semin Hematol. 2011;48(2):117-
123.
10. Ulirsch JC, Verboon JM, Kazerounian S, et
al. The genetic landscape of Diamond- Blackfan anemia. Am J Hum Genet. 2018;103(6):930-947.
11. Khajuria RK, Munschauer M, Ulirsch JC, et al. Ribosome levels selectively regulate translation and lineage commitment in human hematopoiesis. Cell. 2018;173(1):90- 103.e119.
12. Arbiv OA, Cuvelier G, Klaassen RJ, et al. Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia. Clin Genet. 2018;93(2):320-328.
13. Kuramitsu M, Sato-Otsubo A, Morio T, et al. Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia. Blood. 2012;119(10):2376-2384.
14.Farrar JE, Nater M, Caywood E, et al. Abnormalities of the large ribosomal sub- unit protein, Rpl35a, in Diamond-Blackfan anemia. Blood. 2008;112(5):1582-1592.
15. Alkhunaizi E, Schrewe B, Alizadehfar R, et al. Novel 3q27.2-qter deletion in a patient with Diamond-Blackfan anemia and immunodeficiency: case report and review of literature. Am J Med Genet A. 2017; 173(6):1514-1520.
16. Smetanina NS, Mersiyanova IV, Kurnikova MA, et al. Clinical and genomic heterogene- ity of Diamond Blackfan anemia in the Russian Federation. Pediatr Blood Cancer. 2015;62(9):1597-1600.
17. Waespe N, Dhanraj S, Wahala M, et al. The clinical impact of copy number variants in inherited bone marrow failure syndromes. NPJ Genom Med. 2017;2:18.
18. Quarello P, Garelli E, Brusco A, et al. High frequency of ribosomal protein gene dele- tions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation- dependent probe amplification assay. Haematologica. 2012;97(12):1813-1817.
19. Wang R, Yoshida K, Toki T, et al. Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia. Br J Haematol. 2015;168(6):854-864.
20. Wan Y, Chen X, An W, et al. Clinical fea- tures, mutations and treatment of 104 patients of Diamond-Blackfan anemia in China: a single-center retrospective study. Int J Hematol. 2016;104(4):430-439.
21. Glassford MR, Rosenfeld JA, Freedman AA, et al. Novel features of 3q29 deletion syn- drome: results from the 3q29 registry. Am J Med Genet A. 2016;170a(4):999-1006.
22. Murphy MM, Lindsey Burrell T, Cubells JF, et al. Study protocol for The Emory 3q29 Project: evaluation of neurodevelopmental, psychiatric, and medical symptoms in 3q29 deletion syndrome. BMC Psychiatry. 2018;18(1):183.
23. Digilio MC, Bernardini L, Mingarelli R, et al. 3q29 microdeletion: a mental retardation disorder unassociated with a recognizable
phenotype in two mother-daughter pairs. Am J Med Genet A. 2009;149a(8):1777- 1781.
24.Willatt L, Cox J, Barber J, et al. 3q29 microdeletion syndrome: clinical and molec- ular characterization of a new syndrome. Am J Hum Genet. 2005;77(1):154-160.
al. Exploring genomic alteration in pediatric cancer using ProteinPaint. Nat Genet. 2016;48(1):4-6.
38. Karolchik D, Hinrichs AS, Furey TS, et al. The UCSC Table Browser data retrieval tool. Nucleic Acids Res. 2004;32(Database issue):D493-D496.
39. StataCorp. Stata Statistical Software: Release 15. College Station, TX: StataCorp LLC. 2017.
40. Mirabello L, Khincha PP, Ellis SR, et al. Novel and known ribosomal causes of Diamond- Blackfan anaemia identified through com- prehensive genomic characterisation. J Med Genet. 2017;54(6):417-425.
41. Delaporta P, Sofocleous C, Stiakaki E, et al. Clinical phenotype and genetic analysis of RPS19, RPL5, and RPL11 genes in Greek patients with Diamond Blackfan Anemia. Pediatr Blood Cancer. 2014;61(12):2249- 2255.
42. Quarello P, Garelli E, Carando A, et al. Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan anaemia. Br J Haematol. 2016;172(5):782-785.
43. Farrar JE, Dahl N. Untangling the phenotyp- ic heterogeneity of Diamond Blackfan ane- mia. Semin Hematol. 2011;48(2):124-135.
44. Li F, Lisi EC, Wohler ES, et al. 3q29 intersti- tial microdeletion syndrome: an inherited case associated with cardiac defect and nor- mal cognition. Eur J Med Genet. 2009; 52(5):349-352.
45. Pollazzon M, Grosso S, Papa FT, et al. A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricus- pid valve dysplasia and bifid thumb. Eur J Med Genet. 2009;52(2-3):131-133.
46. Quintero-Rivera F, Sharifi-Hannauer P, Martinez-Agosto JA. Autistic and psychi- atric findings associated with the 3q29 microdeletion syndrome: case report and review. Am J Med Genet A. 2010; 152a(10):2459-2467.
47. McHugh B, Krause SA, Yu B, et al. Invadolysin: a novel, conserved metallopro- tease links mitotic structural rearrangements with cell migration. J Cell Biol. 2004; 167(4):673-686.
48. Cobbe N, Marshall KM, Gururaja Rao S, et al. The conserved metalloprotease invadolysin localizes to the surface of lipid droplets. J Cell Sci. 2009;122(Pt 18):3414-3423.
49. Chen LT, Liang WX, Chen S, et al. Functional and molecular features of the calmodulin-interacting protein IQCG required for haematopoiesis in zebrafish. Nat Commun. 2014;5:3811.
50. Pan M, Zhang Q, Liu P, et al. Inhibition of the nuclear export of p65 and IQCG in leukemogenesis by NUP98-IQCG. Front Med. 2016;10(4):410-419.
51. Pan Q, Zhu YJ, Gu BW, et al. A new fusion gene NUP98-IQCG identified in an acute T- lymphoid/myeloid leukemia with a t(3;11)(q29q13;p15)del(3)(q29) translocation. Oncogene. 2008;27(24):3414-3423.
25.
Alter BP, Giri N, Savage SA, et al. Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fif- teen years of follow-up. Haematologica. 2018;103(1):30-39.
26.Lipton JM, Atsidaftos E, Zyskind I, et al. Improving clinical care and elucidating the pathophysiology of Diamond Blackfan ane- mia: an update from the Diamond Blackfan Anemia Registry. Pediatr Blood Cancer. 2006;46(5):558-564.
27. Landrum MJ, Lee JM, Benson M, et al. ClinVar: improving access to variant inter- pretations and supporting evidence. Nucleic Acids Res. 2018;46(D1):D1062-D1067.
28. Stenson PD, Mort M, Ball EV, et al. The Human Gene Mutation Database: building a comprehensive mutation repository for clin- ical and molecular genetics, diagnostic test- ing and personalized genomic medicine. Hum Genet. 2014;133(1):1-9.
29. ClinGen. Clinical laboratories meeting min- imum requirements for data sharing to sup- port quality assurance. https://clini- calgenome.org/tools/clinical-lab-data-shar- ing-list/Last accessed 22 Feb 2019.
30.Da Costa L, Narla A, Mohandas N. An update on the pathogenesis and diagnosis of Diamond-Blackfan anemia. 2018;7:F1000 Faculty Rev-1350..
31. Bessler M, Mason P, Link D, et al. Nathan and Oski's Hematology of Infancy and Childhood E-Book: Expert Consult: Online and Print. In: Orkin SH, ed. Inherited Bone Marrow Failure Syndromes. 7th ed: Elsevier Health Sciences; 2009:351-360.
32. Karczewski KJ, Francioli LC, Tiao G, et al. Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of- function intolerance across human protein- coding genes. bioRxiv. 2019:531210.
33.Rentzsch P, Witten D, Cooper GM, et al. CADD: predicting the deleteriousness of variants throughout the human genome. Nucleic Acids Res. 2019;47(D1):D886-D894.
34. Ioannidis NM, Rothstein JH, Pejaver V, et al. REVEL: an ensemble method for predicting the pathogenicity of rare missense variants. Am J Hum Genet. 2016;99(4):877-885.
35. Cingolani P, Platts A, Wang LL, et al. A pro- gram for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly. 2012;6(2):80-92.
36. Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010;38(16):e164.
37. Zhou X, Edmonson MN, Wilkinson MR, et
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