Acquired ribosomopathies in leukemia and solid tumors. Vlachos A. Hematology Am Soc Hematol Educ Program. 2017 Dec 8;2017(1):716-719. doi: 10.1182/asheducation-2017.1.716. Review. PMID:29222326

Treatment of inherited bone marrow failure syndromes beyond transplantation. Calado RT, Clé DV. Hematology Am Soc Hematol Educ Program. 2017 Dec 8;2017(1):96-101. doi: 10.1182/asheducation-2017.1.96. Review. PMID:29222242

Inherited bone marrow failure syndromes: considerations pre- and posttransplant. Alter BP. Hematology Am Soc Hematol Educ Program. 2017 Dec 8;2017(1):88-95. doi: 10.1182/asheducation-2017.1.88. Review. PMID:29222241

Old and new tools in the clinical diagnosis of inherited bone marrow failure syndromes. West AH, Churpek JE. Hematology Am Soc Hematol Educ Program. 2017 Dec 8;2017(1):79-87. doi: 10.1182/asheducation-2017.1.79. Review. PMID:29222240

Sperm RNA elements as markers of health. Burl RB, Clough S, Sendler E, Estill M, Krawetz SA. Syst Biol Reprod Med. 2017 Dec 3:1-14. doi: 10.1080/19396368.2017.1393583. [Epub ahead of print] PMID:29199464

Perspective on Diamond-Blackfan anemia: lessons from a rare congenital bone marrow failure syndrome. Sakamoto KM, Narla A. Leukemia. 2017 Sep 8. doi: 10.1038/leu.2017.314. [Epub ahead of print] No abstract available. PMID:29182601

Inherited bone marrow failure syndromes: considerations pre- and posttransplant. Alter BP. Blood. 2017 Nov 23;130(21):2257-2264. doi: 10.1182/blood-2017-05-781799. Review. PMID:29167174

Advanced Cell Culture Models for Diamond Blackfan Anemia and other Erythroid Disorders. Migliaccio AR, Varricchio L. Stem Cells. 2017 Nov 10. doi: 10.1002/stem.2735. [Epub ahead of print] Review. PMID:29124822

Pediatric Diamond-Blackfan anemia in the Netherlands: an overview of clinical characteristics and underlying molecular defects. van Dooijeweert B, van Ommen CH, Smiers FJ, Tamminga RYJ, Te Loo MW, Donker AE, Peters M, Granzen B, Gille JJP, Bierings MB, MacInnes AW, Bartels M. Eur J Haematol. 2017 Nov 7. doi: 10.1111/ejh.12995. [Epub ahead of print] PMID:29114930

Ribosomopathies: There’s strength in numbers. Mills EW, Green R. Science. 2017 Nov 3;358(6363). pii: eaan2755. doi: 10.1126/science.aan2755. Review. PMID:29097519

Bone Marrow Failure. Moore CA, Krishnan K. StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2017 Jun-2017 Oct 6. PMID: 29083589

Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience. Da Costa L, O’Donohue MF, van Dooijeweert B, Albrecht K, Unal S, Ramenghi U, Leblanc T, Dianzani I, Tamary H, Bartels M, Gleizes PE, Wlodarski M, MacInnes AW. Eur J Med Genet. 2017 Oct 26. pii: S1769-7212(17)30505-0. doi: 10.1016/j.ejmg.2017.10.017. [Epub ahead of print] Review. PMID: 29081386

The severe phenotype of Diamond-Blackfan anemia is modulated by heat shock protein 70. Gastou M, Rio S, Dussiot M, Karboul N, Moniz H, Leblanc T, Sevin M, Gonin P, Larghéro J, Garrido C, Narla A, Mohandas N, Vainchenker W, Hermine O, Solary E, Da Costa L. Blood Adv. 2017 Oct 10;1(22):1959-1976. doi: 10.1182/bloodadvances.2017008078. eCollection 2017 Oct 10. PMID: 29296843

Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after 15 years of follow-up. Alter BP, Giri N, Savage SA, Rosenberg PS. Haematologica. 2017 Oct 19. pii: haematol.2017.178111. doi: 10.3324/haematol.2017.178111. [Epub ahead of print] PMID: 29051281

Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia. Arbiv OA, Cuvelier G, Klaassen RJ, Fernandez CV, Robitaille N, Steele MG, Breakey V, Abish S, Wu J, Sinha R, Silva M, Goodyear L, Jardine L, Lipton JH, Corriveau-Bourque C, Brossard J, Michon B, Ghemlas I, Waespe N, Zlateska B, Sung L, Cada M, Dror Y. Clin Genet. 2017 Oct 16. doi: 10.1111/cge.13158. [Epub ahead of print] PMID: 29044489

Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan Anemia patient. Venugopal P, Moore S, Lawrence DM, George AJ, Hannan RD, Bray SC, Bik To L, D’Andrea RJ, Feng J, Tirimacco A, Yeoman AL, Young CC, Fine M, Schreiber AW, Hahn CN, Barnett C, Saxon B, Scott HS. Haematologica. 2017 Sep 29. pii: haematol.2017.166678. doi: 10.3324/haematol.2017.166678. [Epub ahead of print] No abstract available. PMID: 28971907

Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy. Aspesi A, Monteleone V, Betti M, Actis C, Morleo G, Sculco M, Guarrera S, Wlodarski MW, Ramenghi U, Santoro C, Ellis SR, Loreni F, Follenzi A, Dianzani I. Sci Rep. 2017 Sep 20;7(1):12010. doi: 10.1038/s41598-017-12307-5. PMID: 28931864

Successful long-term management with low-dose prednisolone in an adult patient with Diamond-Blackfan anemia. Ogasawara T, Kawauchi K, Mori N, Sakura H, Katoh F, Kanno H, Ito E. Rinsho Ketsueki. 2017;58(8):917-921. doi: 10.11406/rinketsu.58.917. Japanese. PMID:28883274

Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes. Giri N, Reed HD, Stratton P, Savage SA, Alter BP. Pediatr Blood Cancer. 2017 Aug 12. doi: 10.1002/pbc.26757. [Epub ahead of print] PMID:28801981

Rps26 directs mRNA-specific translation by recognition of Kozak sequence elements. Fer retti MB, Ghalei H, Ward EA, Potts EL, Karbstein K. Nat Struct Mol Biol. 2017 Jul 31. doi: 10.1038/nsmb.3442. [Epub ahead of print] PMID:28759050

Discrimination of Diamond-Blackfan anemia from parvovirus B19 infection by RBC glutathione. Noguchi J, Kanno H, Chiba Y, Ito E, Ishiguro A. Pediatr Int. 2017 Jul;59(7):838-840. doi: 10.1111/ped.13284. No abstract available. PMID:28745457

Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant. Carlston CM, Afify ZA, Palumbos JC, Bagley H, Barbagelata C, Wooderchak-Donahue WL, Mao R, Carey JC. Am J Med Genet A. 2017 Jul 25. doi: 10.1002/ajmg.a.38360. [Epub ahead of print] PMID:28742285

Iron overload directly affecting the ovaries in a patient with Diamond-Blackfan anaemia: a case report. Mascarenhas M, Rawnsley V, Balen A. Hum Fertil (Camb). 2017 Jun 23:1-5. doi: 10.1080/14647273.2017.1342875. [Epub ahead of print] PMID:28643569

Classical inherited bone marrow failure syndromes with high risk for myelodysplastic syndrome and acute myelogenous leukemia. Savage SA, Dufour C. Semin Hematol. 2017 Apr;54(2):105-114. doi: 10.1053/j.seminhematol.2017.04.004. Epub 2017 Apr 7. Review. PMID:28637614

Disease-specific hematopoietic stem cell transplantation in children with inherited bone marrow failure syndromes. Li Q, Luo C, Luo C, Wang J, Li B, Ding L, Chen J. Ann Hematol. 2017 Aug;96(8):1389-1397. doi: 10.1007/s00277-017-3041-7. Epub 2017 Jun 16. PMID:28623394

Confounding in <i>ex vivo</i> models of Diamond-Blackfan anemia. Ulirsch JC, Lareau C, Ludwig LS, Mohandas N, Nathan DG, Sankaran VG. Blood. 2017 Jun 14. pii: blood-2017-05-783191. doi: 10.1182/blood-2017-05-783191. [Epub ahead of print] No abstract available. PMID:28615220

Allogeneic Hematopoietic Cell Transplantation Using Treosulfan-Based Conditioning for Treatment of Marrow Failure Disorders. Burroughs LM, Shimamura A, Talano JA, Domm JA, Baker KK, Delaney C, Frangoul H, Margolis DA, Baker KS, Nemecek ER, Geddis AE, Sandmaier BM, Deeg HJ, Storb R, Woolfrey AE. Biol Blood Marrow Transplant. 2017 Jun 7. pii: S1083-8791(17)30511-6. doi: 10.1016/j.bbmt.2017.06.002. [Epub ahead of print] PMID:28602958

Syndrome of progressive bone marrow failure and pancreatic insufficiency remains cryptic despite whole exome sequencing: variant of Shwachman-Diamond syndrome or new condition? Fadus MC, Rush ET, Lettieri CK. Clin Case Rep. 2017 Apr 4;5(6):748-752. doi: 10.1002/ccr3.931. eCollection 2017 Jun. PMID:28588803

GATA Transcription Factors: Basic Principles and Related Human Disorders.
Fujiwara T. Tohoku J Exp Med. 2017 Jun;242(2):83-91. doi: 10.1620/tjem.242.83.PMID:28566565

Late Effects Screening Guidelines after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement From the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects After Pediatric HCT. Dietz AC, Savage SA, Vlachos A, Mehta PA, Bresters D, Tolar J, Bonfim C, Dalle JH, de la Fuente J, Skinner R, Boulad F, Duncan CN, Baker KS, Pulsipher MA, Lipton JM, Wagner JE, Alter BP. Biol Blood Marrow Transplant. 2017 May 19. pii: S1083-8791(17)30469-X. doi:10.1016/j.bbmt.2017.05.022. [Epub ahead of print] Review. PMID:28533057

Bone mineral density in patients with inherited bone marrow failure syndromes. Shankar RK, Giri N, Lodish MB, Sinaii N, Reynolds JC, Savage SA, Stratakis CA, Alter BP. Pediatr Res. 2017 May 31. doi: 10.1038/pr.2017.117. [Epub ahead of print] PMID:28486441

Mid-life extra-haematopoetic manifestations of Diamond-Blackfan anaemia. Muir C, Dodds A, Samaras K. Endocrinol Diabetes Metab Case Rep. 2017 Apr 19;2017. pii: 16-0141. doi: 10.1530/EDM-16-0141. eCollection 2017. PMID:28469922

Lentiviral Vectors with Cellular Promoters Correct Anemia and Lethal Bone Marrow Failure in a Mouse Model for Diamond-Blackfan Anemia. Debnath S, Jaako P, Siva K, Rothe M, Chen J, Dahl M, Gaspar HB, Flygare J, Schambach A, Karlsson S. Mol Ther. 2017 Aug 2;25(8):1805-1814. doi: 10.1016/j.ymthe.2017.04.002. Epub 2017 Apr 20. PMID:28434866

Novel 3q27.2-qter deletion in a patient with Diamond-Blackfan anemia and immunodeficiency: Case report and review of literature. Alkhunaizi E, Schrewe B, Alizadehfar R, Vézina C, Stewart GS, Braverman N. Am J Med Genet A. 2017 Jun;173(6):1514-1520. doi: 10.1002/ajmg.a.38208. Epub 2017 Apr 21. PMID:28432740

Molecular convergence in ex vivo models of Diamond-Blackfan anemia. O’Brien KA, Farrar JE, Vlachos A, Anderson SM, Tsujiura CA, Lichtenberg J, Blanc L, Atsidaftos E, Elkahloun A, An X, Ellis SR, Lipton JM, Bodine DM. Blood. 2017 Jun 8;129(23):3111-3120. doi: 10.1182/blood-2017-01-760462. Epub 2017 Apr 4. PMID:28377399

Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations. Errichiello E, Vetro A, Mina T, Wischmeijer A, Berrino E, Carella M, Romagnoli M, Sacchini P, Venesio T, Zecca M, Zuffardi O. Blood Cells Mol Dis. 2017 May;64:38-44. doi: 10.1016/j.bcmd.2017.03.002. Epub 2017 Mar 6. PMID:28376382

Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation. Kim AR, Ulirsch JC, Wilmes S, Unal E, Moraga I, Karakukcu M, Yuan D, Kazerounian S, Abdulhay NJ, King DS, Gupta N, Gabriel SB, Lander ES, Patiroglu T, Ozcan A, Ozdemir MA, Garcia KC, Piehler J, Gazda HT, Klein DE, Sankaran VG. Cell. 2017 Mar 9;168(6):1053-1064.e15. doi: 10.1016/j.cell.2017.02.026. PMID:28283061

Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation. Mirabello L, Khincha PP, Ellis SR, Giri N, Brodie S, Chandrasekharappa SC, Donovan FX, Zhou W, Hicks BD, Boland JF, Yeager M, Jones K, Zhu B, Wang M, Alter BP, Savage SA. J Med Genet. 2017 Jun;54(6):417-425. doi: 10.1136/jmedgenet-2016-104346. Epub 2017 Mar 9. PMID:28280134

The genomics of inherited bone marrow failure: from mechanism to the clinic. Wegman-Ostrosky T, Savage SA. Br J Haematol. 2017 May;177(4):526-542. doi: 10.1111/bjh.14535. Epub 2017 Feb 17. Review. PMID:28211564

[Clinical features and pathogenic gene detection of Diamond-Blackfan anemia]. He X, Xu ZL. Zhongguo Dang Dai Er Ke Za Zhi. 2017 Feb;19(2):171-175. Chinese. PMID:28202115

Drug discovery for Diamond-Blackfan anemia using reprogrammed hematopoietic progenitors. Doulatov S, Vo LT, Macari ER, Wahlster L, Kinney MA, Taylor AM, Barragan J, Gupta M, McGrath K, Lee HY, Humphries JM, DeVine A, Narla A, Alter BP, Beggs AH, Agarwal S, Ebert BL, Gazda HT, Lodish HF, Sieff CA, Schlaeger TM, Zon LI, Daley GQ. Sci Transl Med. 2017 Feb 8;9(376). pii: eaah5645. doi: 10.1126/scitranslmed.aah5645.PMID:28179501

GATA factor mutations in hematologic disease. Crispino JD, Horwitz MS. Blood. 2017 Apr 13;129(15):2103-2110. doi: 10.1182/blood-2016-09-687889. Epub 2017 Feb 8. Review.PMID:28179280

Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric Hematopoietic Cell Transplantation. Dietz AC, Mehta PA, Vlachos A, Savage SA, Bresters D, Tolar J, Boulad F, Dalle JH, Bonfim C, de la Fuente J, Duncan CN, Baker KS, Pulsipher MA, Lipton JM, Wagner JE, Alter BP. Biol Blood Marrow Transplant. 2017 May;23(5):726-735. doi: 10.1016/j.bbmt.2017.01.075. Epub 2017 Jan 20. Review. PMID:28115275

Transcriptome Profiling Identifies Ribosome Biogenesis as a Target of Alcohol Teratogenicity and Vulnerability during Early Embryogenesis. Berres ME, Garic A, Flentke GR, Smith SM. PLoS One. 2017 Jan 3;12(1):e0169351. doi: 10.1371/journal.pone.0169351. eCollection 2017. PMID:28046103

[Disorders of Ribosomal Proteins and Related Hematologic Diseases -Review]. Qi YK, Wu LY. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2016 Dec;24(6):1892-1896. doi: 10.7534/j.issn.1009-2137.2016.06.051. Chinese. PMID:28024515

Reduced-intensity conditioning and stem cell transplantation in infants with Diamond Blackfan anemia. Crazzolara R, Kropshofer G, Haas OA, Matthes-Martin S, Kager L. Haematologica. 2017 Mar;102(3):e73-e75. doi: 10.3324/haematol.2016.157149. Epub 2016 Dec 7. No abstract available. PMID:27927765

Pure red cell aplasia. Means RT Jr. Hematology Am Soc Hematol Educ Program. 2016 Dec 2;2016(1):51-56. Review. PMID:27913462

Exome sequencing identified <i>RPS15A</i> as a novel causative gene for Diamond-Blackfan anemia. Ikeda F, Yoshida K, Toki T, Uechi T, Ishida S, Nakajima Y, Sasahara Y, Okuno Y, Kanezaki R, Terui K, Kamio T, Kobayashi A, Fujita T, Sato-Otsubo A, Shiraishi Y, Tanaka H, Chiba K, Muramatsu H, Kanno H, Ohga S, Ohara A, Kojima S, Kenmochi N, Miyano S, Ogawa S, Ito E. Haematologica. 2017 Mar;102(3):e93-e96. doi: 10.3324/haematol.2016.153932. Epub 2016 Dec 1. No abstract available. PMID:27909223

Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing. Ichimura T, Yoshida K, Okuno Y, Yujiri T, Nagai K, Nishi M, Shiraishi Y, Ueno H, Toki T, Chiba K, Tanaka H, Muramatsu H, Hara T, Kanno H, Kojima S, Miyano S, Ito E, Ogawa S, Ohga S. Int J Hematol. 2017 Apr;105(4):515-520. doi: 10.1007/s12185-016-2151-7. Epub 2016 Nov 23. PMID: 27882484

Pure red cell aplasia. Means RT Jr. Blood. 2016 Nov 24;128(21):2504-2509. Review. PMID:27881371

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. eCollection 2016 Oct-Dec. 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. 2017 Jan;94(Pt A):728-734. doi: 10.1016/j.ijbiomac.2016.10.039. Epub 2016 Oct 17. PMID:27765567