Otologic manifestations of Fanconi anemia and other inherited bone marrow failure syndromes. Kalejaiye A, Giri N, Brewer CC, Zalewski CK, King KA, Adams CD, Rosenberg PS, Kim HJ, Alter BP. Pediatr Blood Cancer. 2016 Dec;63(12):2139-2145. doi: 10.1002/pbc.26155. PMID: 27428025

Iron Overload and Platelet Function Defects: Possible Correlation. Dahi AA, Hanafy E, Al Pakra M. J Investig Med High Impact Case Rep. 2016 Oct 26;4(4):2324709616675645.PMID: 27826594

Expression of ribosomopathy genes during Xenopus tropicalis embryogenesis. Robson A, Owens ND, Baserga SJ, Khokha MK, Griffin JN. BMC Dev Biol. 2016 Oct 26;16(1):38. PMID: 27784267

Hypermethylation of 28S ribosomal RNA in β-thalassemia trait carriers. Sornjai W, Lithanatudom P, Erales J, Joly P, Francina A, Hacot S, Fucharoen S, Svasti S, Diaz JJ, Mertani HC, Smith DR. Int J Biol Macromol. 2016 Oct 17. pii: S0141-8130(16)31101-1. doi: 0.1016/j.ijbiomac.2016.10.039. [Epub ahead of print] PMID: 27765567

Depletion of ribosomal protein S19 causes a reduction of rRNA synthesis. Juli G, Gismondi A, Monteleone V, Caldarola S, Iadevaia V, Aspesi A, Dianzani I, Proud CG, Loreni F. Sci Rep. 2016 Oct 13;6:35026. doi: 10.1038/srep35026. PMID: 27734913

A novel pathogenic mutation in RPL11 identified in a patient diagnosed with Diamond Blackfan Anemia as a young adult. Narla A, Yuan D, Kazerounian S, LaVasseur C, Ulirsch JC, Narla J, Glader B, Sankaran VG, Gazda H. Blood Cells Mol Dis. 2016 Oct;61:46-7. doi: 10.1016/j.bcmd.2016.08.001. No abstract available. PMID: 27667165

Clinical features, mutations and treatment of 104 patients of Diamond-Blackfan anemia in China: a single-center retrospective study. Wan Y, Chen X, An W, Ruan M, Zhang J, Chang L, Zhang R, Zhu S, Zhang Y, Yang W, Guo Y, Yuan W, Zou Y, Chen Y, Zhu X. Int J Hematol. 2016 Oct;104(4):430-9. doi: 10.1007/s12185-016-2044-9. PMID: 27329125

Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis. Steinberg-Shemer O, Keel S, Dgany O, Walsh T, Noy-Lotan S, Krasnov T, Yacobovich J, Quarello P, Ramenghi U, King MC, Shimamura A, Tamary H. J Pediatr Hematol Oncol. 2016 Oct;38(7):e260-2. doi: 10.1097/MPH.0000000000000587. PMID: 27258031

Critical Diamond-Blackfan anemia due to ribosomal protein S19 missense mutation. Ozono S, Mitsuo M, Noguchi M, Nakagawa S, Ueda K, Inada H, Ohga S, Ito E. Pediatr Int. 2016 Sep;58(9):930-3. doi: 10.1111/ped.13018. PMID: 27601194

A new in-frame deletion in ribosomal protein S19 in a Chinese infant with Diamond-Blackfan anemia. Zhang JY, Jia M, Zhao HZ, Luo ZB, Xu WQ, Shen HP, Tang YM. Blood Cells Mol Dis. 2016 Aug 31;62:1-5. doi: 10.1016/j.bcmd.2016.08.003. [Epub ahead of print] PMID: 27732904

Neurological Deficits of an Rps19(Arg67del) Model of Diamond-Blackfan Anaemia. Kubik-Zahorodna A, Schuster B, Kanchev I, Sedláček R. Folia Biol (Praha). 2016;62(4):139-47. PMID: 27643579

Erythrocyte adenosine deaminase levels are elevated in Diamond Blackfan anemia but not in the 5q- syndrome. Narla A, Davis NL, Lavasseur C, Wong C, Glader B. Am J Hematol. 2016 Aug 24. doi: 10.1002/ajh.24541. [Epub ahead of print] No abstract available. PMID: 27556864

Towards RNA Repair of Diamond-Blackfan Anemia Hematopoietic Stem Cells. D’Allard D, Liu J. Hum Gene Ther. 2016 Aug 22. [Epub ahead of print] PMID: 27550323

A de novo 1.6Mb microdeletion at 19q13.2 in a boy with Diamond-Blackfan anemia, global developmental delay and multiple congenital anomalies. Yuan H, Meng Z, Liu L, Deng X, Hu X, Liang L. Mol Cytogenet. 2016 Aug 2;9:58. doi: 10.1186/s13039-016-0268-2. PMID: 27486481

Fanconi Syndrome Secondary to Deferasirox in Diamond-Blackfan Anemia: Case Series and Recommendations for Early Diagnosis. Papneja K, Bhatt MD, Kirby-Allen M, Arora S, Wiernikowski JT, Athale UH. Pediatr Blood Cancer. 2016 Aug;63(8):1480-3. doi: 10.1002/pbc.25995. PMID:27082377

Recent advances in inherited bone marrow failure syndrome research. Ito E, Toki T, Terui K. Rinsho Ketsueki. 2016 Jul;57(7):882-90. doi: 10.11406/rinketsu.57.882. PMID: 27498735

The role of ribosomal proteins in the regulation of cell proliferation, tumorigenesis, and genomic integrity. Xu X, Xiong X, Sun Y. Sci China Life Sci. 2016 Jul;59(7):656-72. doi: 10.1007/s11427-016-0018-0. Review. PMID: 27294833

Erythrocyte glutathione is a novel biomarker of Diamond-Blackfan anemia. Utsugisawa T, Uchiyama T, Toki T, Ogura H, Aoki T, Hamaguchi I, Ishiguro A, Ohara A, Kojima S, Ohga S, Ito E, Kanno H. Blood Cells Mol Dis. 2016 Jul;59:31-6. doi: 10.1016/j.bcmd.2016.03.007. PMID:27282564

A Novel Mutation of Ribosomal Protein S19 Gene in a Chinese Child with Diamond-Blackfan Anemia. Jiang H, Wu MY, Li DZ. Indian J Hematol Blood Transfus. 2016 Jun;32(Suppl 1):233-4. doi: 10.1007/s12288-015-0524-3. No abstract available. PMID: 27408399

The Stomatological Complications of Diamond-Blackfan Anemia: A Case Report. Gomes RF, Munerato MC. Clin Med Res. 2016 Jun;14(2):97-102. doi: 10.3121/cmr.2015.1305. PMID: 26864506

Diamond-Blackfan Anemia. Clinton C, Gazda HT.In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. 2009 Jun 25 [updated 2016 Apr 7]. PMID: 20301769

Hereditary Predispositions to Myelodysplastic Syndrome. Bannon SA, DiNardo CD. Int J Mol Sci. 2016 May 30;17(6). pii: E838. doi: 10.3390/ijms17060838. Review. PMID: 27248996

[Laparoscopic Nephrectomy in Infant with Diamond Blackfan Syndrome]. Matsui H, Suzuki K, Kato K, Hattori R. Hinyokika Kiyo. 2016 Apr;62(4):193-6. Japanese. PMID: 27217013

Delayed globin synthesis leads to excess heme and the macrocytic anemia of Diamond Blackfan anemia and del(5q) myelodysplastic syndrome. Yang Z, Keel SB, Shimamura A, Liu L, Gerds AT, Li HY, Wood BL, Scott BL, Abkowitz JL. Sci Transl Med. 2016 May 11;8(338):338ra67. doi: 10.1126/scitranslmed.aaf3006. PMID: 27169803

Use of n-of-1 (single patient) trials to assess the effect of age of transfused blood on health-related quality of life in transfusion-dependent patients. Hsia CC, Mahon JL, Seitelbach M, Chia J, Zou G, Chin-Yee IH. Transfusion. 2016 May;56(5):1192-200. doi: 10.1111/trf.13484.PMID: 26840915

Insight into GATA1 transcriptional activity through interrogation of cis elements disrupted in human erythroid disorders. Wakabayashi A, Ulirsch JC, Ludwig LS, Fiorini C, Yasuda M, Choudhuri A, McDonel P, Zon LI, Sankaran VG. Proc Natl Acad Sci U S A. 2016 Apr 19;113(16):4434-9. doi: 10.1073/pnas.1521754113. PMID: 27044088

Mice with a Mutation in the Mdm2 Gene That Interferes with MDM2/Ribosomal Protein Binding Develop a Defect in Erythropoiesis. Kamio T, Gu BW, Olson TS, Zhang Y, Mason PJ, Bessler M. PLoS One. 2016 Apr 4;11(4):e0152263. doi: 10.1371/journal.pone.0152263. PMID: 27042854

Role of ribosomal protein mutations in tumor development (Review). Goudarzi KM, Lindström MS. Int J Oncol. 2016 Apr;48(4):1313-24. doi: 10.3892/ijo.2016.3387. PMID: 26892688

Allogeneic hematopoietic stem cell transplantation for inherited bone marrow failure syndromes. Dalle JH, Peffault de Latour R. Int J Hematol. 2016 Apr;103(4):373-9. doi: 10.1007/s12185-016-1951-0. Review. PMID: 26872907

Transcriptome analysis reveals a ribosome constituents disorder involved in the RPL5 downregulated zebrafish model of Diamond-Blackfan anemia. Wan Y, Zhang Q, Zhang Z, Song B, Wang X, Zhang Y, Jia Q, Cheng T, Zhu X, Leung AY, Yuan W, Jia H, Fang X. BMC Med Genomics. 2016 Mar 9;9:13. doi: 10.1186/s12920-016-0174-9. PMID: 26961822

Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia. Quarello P, Garelli E, Carando A, Mancini C, Foglia L, Botto C, Farruggia P, De Keersmaecker K, Aspesi A, Ellis SR, Dianzani I, Ramenghi U. Br J Haematol. 2016 Mar;172(5):782-5. doi: 10.1111/bjh.13880. PMID: 26763766

[Inherited bone marrow failure syndromes]. Okuno Y. Rinsho Ketsueki. 2016 Feb;57(2):98-103. doi: 10.11406/rinketsu.57.98. Review. Japanese. PMID: 26935625

Neonatal manifestations of inherited bone marrow failure syndromes. Khincha PP, Savage SA.  Semin Fetal Neonatal Med. 2016 Feb;21(1):57-65. doi: 10.1016/j.siny.2015.12.003. Review. PMID: 26724991

Endocrine Dysfunction in Diamond-Blackfan Anemia (DBA): A Report from the DBA Registry (DBAR). Lahoti A, Harris YT, Speiser PW, Atsidaftos E, Lipton JM, Vlachos A. Pediatr Blood Cancer. 2016 Feb;63(2):306-12. doi: 10.1002/pbc.25780. PMID: 26496000

Differential expression of ribosomal proteins in myelodysplastic syndromes. Rinker EB, Dueber JC, Qualtieri J, Tedesco J, Erdogan B, Bosompem A, Kim AS. J Clin Pathol. 2016 Feb;69(2):176-80. doi: 10.1136/jclinpath-2015-203093. PMID: 26408650

Development of Soft Tissue Sarcomas in Ribosomal Proteins L5 and S24 Heterozygous Mice.  Kazerounian S, Ciarlini PD, Yuan D, Ghazvinian R, Alberich-Jorda M, Joshi M, Zhang H, Beggs AH, Gazda HT. J Cancer. 2016 Jan 1;7(1):32-6. doi: 10.7150/jca.13292. PMID: 26722357

ALDH2 polymorphism in patients with Diamond-Blackfan anemia in Japan. Ikeda F, Toki T, Kanezaki R, Terui K, Yoshida K, Kanno H, Ohga S, Ohara A, Kojima S, Ogawa S, Ito E. Int J Hematol. 2016 Jan;103(1):112-4. doi: 10.1007/s12185-015-1891-0. No abstract available. PMID: 26608366