Assessment of hematopoietic failure due to Rpl11 deficiency in a zebrafish model of Diamond-Blackfan anemia by deep sequencing. Zhang Z, Jia H, Zhang Q, Wan Y, Zhou Y, Jia Q, Zhang W, Yuan W, Cheng T, Zhu X, Fang X. BMC Genomics. 2013 Dec 17;14:896. doi: 10.1186/1471-2164-14-896. PMID: 24341334 [PubMed – in process]

Persistent Pulmonary Hypertension of the Newborn Associated With Severe Congenital Anemia of Various Etiologies. Landau D, Kapelushnik J, Harush MB, Marks K, Shalev H. J Pediatr Hematol Oncol. 2013 Dec 4. [Epub ahead of print] PMID: 24309603 [PubMed – as supplied by publisher]

VarRanker: rapid prioritization of sequence variations associated with human disease. O’Fallon BD, Wooderchak-Donahue W, Bayrak-Toydemir P, Crockett D. BMC Bioinformatics. 2013;14 Suppl 13:S1. doi: 10.1186/1471-2105-14-S13-S1. Epub 2013 Oct 1. PMID: 24268183 [PubMed – in process]

A novel reduced intensity conditioning regimen for unrelated umbilical cord blood transplantation in children with non-malignant diseases. Parikh SH, Mendizabal A, Benjamin CL, Komanduri KV, Antony J, Petrovic A, Hale G, Driscoll TA, Martin PL, Page K, Flickinger K, Moffet J, Niedzwiecki D, Kurtzberg J, Szabolcs P. Biol Blood Marrow Transplant. 2013 Nov 29. doi:pii: S1083-8791(13)00558-2. 10.1016/j.bbmt.2013.11.021. [Epub ahead of print] PMID:24296492 [PubMed – as supplied by publisher]

Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disorders. Trainor PA, Merrill AE. Biochim Biophys Acta. 2013 Nov 16. doi:pii: S0925-4439(13)00335-9.10.1016/j.bbadis.2013.11.010. [Epub ahead of print] PMID: 24252615 [PubMed – as supplied by publisher]

Genomic characterization of the inherited bone marrow failure syndromes. Khincha PP, Savage SA. Semin Hematol. 2013 Oct;50(4):333-47. doi: 10.1053/j.seminhematol.2013.09.002. PMID: 24246701 [PubMed – in process]

Correction: Transcriptome Analysis of the Zebrafish Model of Diamond-Blackfan Anemia from RPS19 Deficiency via p53-Dependent and -Independent Pathways. Jia Q, Zhang Q, Zhang Z, Wang Y, Zhang W, Zhou Y, Wan Y, Cheng T, Zhu X, Fang X, Yuan W, Jia H. PLoS One. 2013 Nov 11;8(11). doi: 10.1371/annotation/df71e418-b886-49ea-bb6a-b96341b27cfc. PMID: 24244255 [PubMed – as supplied by publisher]

The inherited bone marrow failure syndromes. Chirnomas SD, Kupfer GM. Pediatr Clin North Am. 2013 Dec;60(6):1291-310. doi: 10.1016/j.pcl.2013.09.007. PMID: 24237972 [PubMed – in process]

Using induced human pluripotent stem cells to study Diamond-Blackfan anemia: an outlook on the clinical possibilities. Mason PJ, Perdigones N, Bessler M. Expert Rev Hematol. 2013 Dec;6(6):627-9. doi: 10.1586/17474086.2013.859521. No abstract available. PMID: 24219546 [PubMed – in process]

A Generic, Flexible Protocol for Preimplantation Human Leukocyte Antigen Typing Alone or in Combination with a Monogenic Disease, for Rapid Case Work-up and Application. Kakourou G, Destouni A, Vrettou C, Traeger-Synodinos J, Kanavakis E. Hemoglobin. 2013 Oct 16. [Epub ahead of print] PMID: 24131134 [PubMed – as supplied by publisher]

Transcriptome analysis of the zebrafish model of Diamond-Blackfan anemia from RPS19 deficiency via p53-dependent and -independent pathways. Jia Q, Zhang Q, Zhang Z, Wang Y, Zhang W, Zhou Y, Wan Y, Cheng T, Zhu X, Fang X, Yuan W, Jia H. PLoS One. 2013 Aug 19;8(8):e71782. doi: 10.1371/journal.pone.0071782. PMID: 23990987 [PubMed – in process]

Genetics. Mysterious ribosomopathies. McCann KL, Baserga SJ. Science. 2013 Aug 23;341(6148):849-50. doi: 10.1126/science.1244156. No abstract available. PMID: 23970686 [PubMed – indexed for MEDLINE]

Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q- syndrome. Vlachos A, Farrar JE, Atsidaftos E, Muir E, Narla A, Markello TC, Singh SA, Landowski M, Gazda HT, Blanc L, Liu JM, Ellis SR, Arceci RJ, Ebert BL, Bodine DM, Lipton JM. Blood. 2013 Oct 3;122(14):2487-90. doi: 10.1182/blood-2013-06-509935. Epub 2013 Aug 13. PMID: 23943650 [PubMed – in process]

Defects in DBA: more than meets the eye. Da Costa L. Blood. 2013 Aug 8;122(6):856-7. doi: 10.1182/blood-2013-06-508465. PMID: 23929834 [PubMed – indexed for MEDLINE]

Cytokine production by bone marrow mononuclear cells in inherited bone marrow failure syndromes. Matsui K, Giri N, Alter BP, Pinto LA. Br J Haematol. 2013 Oct;163(1):81-92. doi: 10.1111/bjh.12475. Epub 2013 Jul 25. PMID: 23889587 [PubMed – in process]

The emerging importance of ribosomal dysfunction in the pathogenesis of hematologic disorders. Raiser DM, Narla A, Ebert BL. Leuk Lymphoma. 2013 Aug 28. [Epub ahead of print] PMID: 23863123 [PubMed – as supplied by publisher]

Tissue iron evaluation in chronically transfused children shows significant levels of iron loading at a very young age. Berdoukas V, Nord A, Carson S, Puliyel M, Hofstra T, Wood J, Coates TD. Am J Hematol. 2013 Nov;88(11):E283-5. doi: 10.1002/ajh.23543. Epub 2013 Sep 2. PMID: 23861216 [PubMed – in process]

Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. Landowski M, O’Donohue MF, Buros C, Ghazvinian R, Montel-Lehry N, Vlachos A, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Glader B, Atsidaftos E, Lipton JM, Beggs AH, Gleizes PE, Gazda HT. Hum Genet. 2013 Nov;132(11):1265-74. doi: 10.1007/s00439-013-1326-z. Epub 2013 Jun 30. PMID: 23812780

Diamond blackfan anemia: a tertiary care center experience. Singh AK, Radhakrishnan N, Seth T, Mishra P, Mahapatra M, Pati H. Mediterr J Hematol Infect Dis. 2013 Jun 3;5(1):e2013039. doi: 10.4084/MJHID.2013.039. Print 2013. PMID:  23795277 [PubMed]

Cardiovascular function and treatment in β-thalassemia major: a consensus statement from the American Heart Association. Pennell DJ, Udelson JE, Arai AE, Bozkurt B, Cohen AR, Galanello R, Hoffman TM, Kiernan MS, Lerakis S, Piga A, Porter JB, Walker JM, Wood J; American Heart Association Committee on Heart Failure and Transplantation of the Council on Clinical Cardiology and Council on Cardiovascular Radiology and Imaging. Circulation. 2013 Jul 16;128(3):281-308. doi: 10.1161/CIR.0b013e31829b2be6. Epub 2013 Jun 17. Erratum in: Circulation. 2013 Sep 24;128(13):e203. PMID: 23775258 [PubMed – indexed for MEDLINE]

Ribosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients. Garçon L, Ge J, Manjunath SH, Mills JA, Apicella M, Parikh S, Sullivan LM, Podsakoff GM, Gadue P, French DL, Mason PJ, Bessler M, Weiss MJ. Blood. 2013 Aug 8;122(6):912-21. doi: 10.1182/blood-2013-01-478321. Epub 2013 Jun 6. PMID: 23744582 [PubMed – indexed for MEDLINE]

The ribosomal protein S26 regulates p53 activity in response to DNA damage. Cui D, Li L, Lou H, Sun H, Ngai SM, Shao G, Tang J. Oncogene. 2013 Jun 3. doi: 10.1038/onc.2013.170. [Epub ahead of print] PMID: 23728348 [PubMed – as supplied by publisher]

Perturbation of fetal hematopoiesis in a mouse model of Down syndrome’s transient myeloproliferative disorder. Birger Y, Goldberg L, Chlon TM, Goldenson B, Muler I, Schiby G, Jacob-Hirsch J, Rechavi G, Crispino JD, Izraeli S. Blood. 2013 Aug 8;122(6):988-98. doi: 10.1182/blood-2012-10-460998. Epub 2013 May 29. PMID: 23719302 [PubMed – indexed for MEDLINE]

Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia. Gerrard G, Valgañón M, Foong HE, Kasperaviciute D, Iskander D, Game L, Müller M, Aitman TJ, Roberts I, de la Fuente J, Foroni L, Karadimitris A. Br J Haematol. 2013 Aug;162(4):530-6. doi: 10.1111/bjh.12397. Epub 2013 May 30. PMID: 23718193 [PubMed – indexed for MEDLINE]

Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes. Alter BP, Rosenberg PS, Day T, Menzel S, Giri N, Savage SA, Thein SL. Br J Haematol. 2013 Aug;162(4):542-6. doi: 10.1111/bjh.12399. Epub 2013 May 29. PMID: 23713742 [PubMed – indexed for MEDLINE]

[One case of torsades de pointes with Aase’s syndrome induced by moxifloxacin]. Cheng L, Fang Y, Li JQ. Zhonghua Xin Xue Guan Bing Za Zhi. 2013 Jan;41(1):69-70. Chinese.

First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond–Blackfan anemia. Da Costa L, Chanoz-Poulard G, Simansour M, French M, Bouvier R, Prieur F, Couque N, Delezoide AL, Leblanc T, Mohandas N, Touraine R. Am J Hematol. 2013 Apr;88(4):340-1. No abstract available.  PMID: 23641487 [PubMed – indexed for MEDLINE]

[The pure red cell aplasia in children (observation 2010-2012 years)]. Mtvarelidze Z, Kvezereli-Kopadze A, Kvezereli-Kopadze M. Georgian Med News. 2013 Mar;(216):46-51. Russian. PMID: 23567308 [PubMed – in process.

Gradual processing of the ITS1 from the nucleolus to the cytoplasm during synthesis of the human 18S rRNA. Preti M, O’Donohue MF, Montel-Lehry N, Bortolin-Cavaillé ML, Choesmel V, Gleizes PE.  Nucleic Acids Res. 2013 Apr;41(8):4709-23. doi: 10.1093/nar/gkt160. Epub 2013 Mar 12. PMID: 23482395 [PubMed – indexed for MEDLINE]

Clinical utility gene card for: Diamond-Blackfan anemia–update 2013. Vlachos A, Dahl N, Dianzani I, Lipton JM. Eur J Hum Genet. 2013 Oct;21(10). doi: 10.1038/ejhg.2013.34. Epub 2013 Mar 6. No abstract available. PMID: 23463023 [PubMed – in process]

Immune aregenerative anemia without erythroblastopenia: a previously undescribed condition. Brousse V, Brouzes C, Sicre de Fontbrune F, Casadevall N, Varet B. Ann Hematol. 2013 Sep;92(9):1289-90. doi: 10.1007/s00277-013-1696-2. Epub 2013 Feb 14. No abstract available. PMID: 23408098 [PubMed – indexed for MEDLINE]

Genetics of ribosomal proteins: “curiouser and curiouser”. Terzian T, Box N. PLoS Genet. 2013;9(1):e1003300. doi: 10.1371/journal.pgen.1003300. Epub 2013 Jan 31. No abstract available. PMID: 23382707 [PubMed – indexed for MEDLINE]

Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes. Watkins-Chow DE, Cooke J, Pidsley R, Edwards A, Slotkin R, Leeds KE, Mullen R, Baxter LL, Campbell TG, Salzer MC, Biondini L, Gibney G, Phan Dinh Tuy F, Chelly J, Morris HD, Riegler J, Lythgoe MF, Arkell RM, Loreni F, Flint J, Pavan WJ, Keays DA. PLoS Genet. 2013;9(1):e1003094. doi: 10.1371/journal.pgen.1003094. Epub 2013 Jan 31. PMID: 23382688 [PubMed – indexed for MEDLINE]

Quality control mechanisms during ribosome maturation. Karbstein K. Trends Cell Biol. 2013 May;23(5):242-50. doi: 10.1016/j.tcb.2013.01.004. Epub 2013 Feb 1. Review. PMID: 23375955 [PubMed – indexed for MEDLINE]

First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond-Blackfan anemia. Da Costa L, Chanoz-Poulard G, Simansour M, French M, Bouvier R, Prieur F, Couque N, Delezoide AL, Leblanc T, Mohandas N, Touraine R. Am J Hematol. 2013 Feb;88(2):160. doi: 10.1002/ajh.23366. No abstract available. Erratum in: Am J Hematol. 2013 Apr;88(4):340-1. PMID: 23349008 [PubMed – indexed for MEDLINE]

Dual functions of the C5a receptor as a connector for the K562 erythroblast-like cell-THP-1 macrophage-like cell island and as a sensor for the differentiation of the K562 erythroblast-like cell during haemin-induced erythropoiesis. Nishiura H, Zhao R, Yamamoto T. Clin Dev Immunol. 2012;2012:187080. doi: 10.1155/2012/187080. Epub 2012 Dec 30. PMID: 23346183 [PubMed – indexed for MEDLINE]

Inherited bone marrow failure syndromes in 2012. Sakaguchi H, Nakanishi K, Kojima S. Int J Hematol. 2013 Jan;97(1):20-9. doi: 10.1007/s12185-012-1249-9. Epub 2012 Dec 28. PMID: 23271412 [PubMed – in process]

Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia. Fargo JH, Kratz CP, Giri N, Savage SA, Wong C, Backer K, Alter BP, Glader B. Br J Haematol. 2013 Feb;160(4):547-54. doi: 10.1111/bjh.12167. Epub 2012 Dec 17. PMID: 23252420 [PubMed – indexed for MEDLINE]

Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility loci. Doelken SC, Seeger K, Hundsdoerfer P, Weber-Ferro W, Klopocki E, Graul-Neumann L. Am J Med Genet A. 2013 Jan;161A(1):218-24. doi: 10.1002/ajmg.a.35695. Epub 2012 Dec 14. PMID: 23239641 [PubMed – indexed for MEDLINE]

Activation of the mTOR pathway by the amino acid (L)-leucine in the 5q- syndrome and other ribosomopathies. Boultwood J, Yip BH, Vuppusetty C, Pellagatti A, Wainscoat JS. Adv Biol Regul. 2013 Jan;53(1):8-17. doi: 10.1016/j.jbior.2012.09.002. Epub 2012 Sep 13. Review. PMID: 23031788 [PubMed – indexed for MEDLINE]

Osteosarcoma after bone marrow transplantation. Ueki H, Maeda N, Sekimizu M, Tsukushi S, Nishida Y, Horibe K. J Pediatr Hematol Oncol. 2013 Mar;35(2):134-8. doi: 10.1097/MPH.0b013e3182677f19. PMID: 22995925 [PubMed – indexed for MEDLINE]