GATA1 mutations in red cell disorders. Ling T, Crispino JD. IUBMB Life. 2019 Oct 25. doi: 10.1002/iub.2177. [Epub ahead of print] PMID: 31652397

Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5. Tominaga M, Hamanoue S, Goto H, Saito T, Nagai JI, Masuno M, Umeda Y, Kurosawa K. Hum Genome Var. 2019 Aug 8;6:36. doi: 10.1038/s41439-019-0067-5. eCollection 2019. PMID: 31645974

RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature. Le Caignec C, Ory B, Lamoureux F, O’Donohue MF, Orgebin E, Lindenbaum P, Téletchéa S, Saby M, Hurst A, Nelson K, Gilbert SR, Wilnai Y, Zeitlin L, Segev E, Tesfaye R, Nizon M, Cogne B, Bezieau S, Geoffroy L, Hamel A, Mayrargue E, de Courtivron B, Decock-Giraudaud A, Charrier C, Pichon O, Retière C, Redon R, Pepler A, McWalter K, Da Costa L, Toutain A, Gleizes PE, Baud’huin M, Isidor B. Am J Hum Genet. 2019 Oct 14. pii: S0002-9297(19)30364-7. doi: 10.1016/j.ajhg.2019.09.024. [Epub ahead of print] PMID: 31630789

Loss of rps9 in Zebrafish Leads to p53-Dependent Anemia. Chen C, Huang H, Yan R, Lin S, Qin W. G3 (Bethesda). 2019 Oct 16. pii: g3.400585.2019. doi: 10.1534/g3.119.400585. [Epub ahead of print] PMID: 31619461

Zebrafish Models of Diamond-Blackfan Anemia: A Tool for Understanding the Disease Pathogenesis and Drug Discovery. Uechi T, Kenmochi N. Pharmaceuticals (Basel). 2019 Oct 9;12(4). pii: E151. doi: 10.3390/ph12040151. Review. PMID: 31600948

A monogenic autoinflammatory disease with fatal vasculitis: deficiency of adenosine deaminase 2. Sahin S, Adrovic A, Kasapcopur O. Curr Opin Rheumatol. 2019 Oct 9. doi: 10.1097/BOR.0000000000000669. [Epub ahead of print] PMID: 31599797

Bochdalek hernia with Diamond-Blackfan anemia associated with RPS19 gene mutation: A case report. Yoo YS, Lee NH, Choi YB. Medicine (Baltimore). 2019 Sep;98(39):e17337. doi: 10.1097/MD.0000000000017337. PMID: 31574871

Managing the Unusual Causes of Fetal Anemia. Maisonneuve E, Ben M’Barek I, Leblanc T, Da Costa L, Friszer S, Pernot F, Thomas P, Castaigne V, Toly N’Dour C, Mailloux A, Cortey A, Jouannic JM. Fetal Diagn Ther. 2019 Sep 10:1-9. doi: 10.1159/000501554. [Epub ahead of print] PMID: 31505487

Diamond Blackfan Anemia. Gadhiya K, Budh DP. StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2019 Jan-. 2019 Jul 23. PMID: 31424886

Chromatin occupancy and epigenetic analysis reveal new insights into the function of the GATA1 N terminus in erythropoiesis. Ling T, Birger Y, Stankiewicz MJ, Ben-Haim N, Kalisky T, Rein A, Kugler E, Chen W, Fu C, Zhang K, Patel H, Sikora JW, Goo YA, Kelleher N, Zou L, Izraeli S, Crispino JD. Blood. 2019 Nov 7;134(19):1619-1631. doi: 10.1182/blood.2019001234. PMID: 31409672

Study of pathophysiology and molecular characterization of congenital anemia in India using targeted next-generation sequencing approach. Kedar PS, Harigae H, Ito E, Muramatsu H, Kojima S, Okuno Y, Fujiwara T, Dongerdiye R, Warang PP, Madkaikar MR. Int J Hematol. 2019 Nov;110(5):618-626. doi: 10.1007/s12185-019-02716-9. Epub 2019 Aug 10. PMID: 31401766

Danazol: An Effective and Underutilised Treatment Option in Diamond-Blackfan Anaemia. Chai KY, Quijano CJ, Chiruka S. Case Rep Hematol. 2019 Jul 1;2019:4684156. doi: 10.1155/2019/4684156. eCollection 2019. PMID: 31355022

Effect of L-Leucine Therapy on Hematopoietic Function in Elderly Myelodysplastic Syndrome Patients. Ito K, Hayashi T, Inaguma Y, Terazawa T, Ando M, Ando Y, Tsuge M, Kato A, Shimato A, Suzuki S, Kato S, Tomita A, Yamada S, Emi N. Biol Pharm Bull. 2019 Oct 1;42(10):1651-1657. doi: 10.1248/bpb.b19-00184. Epub 2019 Jul 25. PMID: 31341143

The genetics of human hematopoiesis and its disruption in disease. Bao EL, Cheng AN, Sankaran VG. EMBO Mol Med. 2019 Aug;11(8):e10316. doi: 10.15252/emmm.201910316. Epub 2019 Jul 17. Review. PMID: 31313878

Identification of a novel RPS26 nonsense mutation in a Chinese Diamond-Blackfan Anemia patient. Shi X, Huang X, Zhang Y, Cui X. BMC Med Genet. 2019 Jul 5;20(1):120. doi: 10.1186/s12881-019-0848-1. PMID: 31277601

Diamond-Blackfan anemia RPL35A: a case report. Noel CB. J Med Case Rep. 2019 Jun 18;13(1):185. doi: 10.1186/s13256-019-2127-3. PMID: 31208452

Hereditary myeloid malignancies. Rafei H, DiNardo CD. Best Pract Res Clin Haematol. 2019 Jun;32(2):163-176. doi: 10.1016/j.beha.2019.05.001. Epub 2019 May 3. Review. PMID:31203998

Translation of upstream open reading frames in a model of neuronal differentiation. Rodriguez CM, Chun SY, Mills RE, Todd PK. BMC Genomics. 2019 May 20;20(1):391. doi: 10.1186/s12864-019-5775-1. PMID: 31109297

Novel variants in Iranian individuals suspected to have inherited red blood cell disorders, including bone marrow failure syndromes. Neishabury M, Mehri M, Fattahi Z, Najmabadi H, Azarkeivan A. Haematologica. 2019 May 16. pii: haematol.2019.216069. doi: 10.3324/haematol.2019.216069. [Epub ahead of print] PMID: 31097629

A monogenic disease with a variety of phenotypes: deficiency of adenosine deaminase 2 Subtitle: Deficiency of adenosine deaminase 2. Ozen S, Bilginer Y, Batu ED, Taşkıran E, Özkara HA, Ünal Ş, Güleray N, Erden A, Karadağ Ö, Gümrük F, Çetin M, Sönmez HE, Ayvaz DÇ, Tezcan I. J Rheumatol. 2019 May 1. pii: jrheum.181384. doi: 10.3899/jrheum.181384. [Epub ahead of print] PMID: 31043544

Impaired cellular and humoral immunity is a feature of Diamond-Blackfan anaemia; experience of 107 unselected cases in the United Kingdom. Iskander D, Roberts I, Rees C, Szydlo R, Alikian M, Neale M, Harrington Y, Kelleher P, Karadimitris A, de la Fuente J. Br J Haematol. 2019 Apr 13. doi: 10.1111/bjh.15915. [Epub ahead of print] PMID: 30980390

A Novel Deletion in the RPL5 Gene in a Lebanese Child With Diamond Blackfan AnemiaUnresponsive to Steroid Treatment. Farah RA, Kamel L, Roy N, Proven M, Wray K, Roberts I, Wlodarski MW. J Pediatr Hematol Oncol. 2019 Mar 29. doi: 10.1097/MPH.0000000000001435. [Epub ahead of print] PMID: 30933022

Aplastic Anemia & MDS International Foundation (AA&MDSIF): Bone Marrow Failure Disease Scientific Symposium 2018.  Becktell K, Berlyne D, Pagliuca S, Pommert L, Prata PH, Margolis D, de Latour RP, Dufour C, Pierri F. Leuk Res. 2019 May;80:19-25. doi: 10.1016/j.leukres.2019.03.003. Epub 2019 Mar 20.PMID: 30908982

Diamond Blackfan Anemia: Genetics, Pathogenesis, Diagnosis and Treatment. Engidaye G, Melku M, Enawgaw B. EJIFCC. 2019 Mar 1;30(1):67-81. eCollection 2019 Mar. PMID: 30881276

Diamond-Blackfan Anemia. Clinton C, Gazda HT. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. 2009 Jun 25 [updated 2019 Mar 7]. PMID: 20301769

A Phenotypic Screening Assay Identifies Modulators of Diamond Blackfan Anemia. Siva K, Ek F, Chen J, Ghani Alattar A, Sigmundsson K, Olsson R, Wlodarski M, Lundbäck T, Flygare J. SLAS Discov. 2019 Mar;24(3):304-313. doi: 10.1177/2472555218823531. PMID: 30784369

The Genetic Landscape of Diamond-Blackfan Anemia. Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O’Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O’Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT. Am J Hum Genet. 2019 Feb 7;104(2):356. doi: 10.1016/j.ajhg.2018.12.011. No abstract available. PMID: 30735661

Reprogramming of bone marrow derived mesenchymal stromal cells to human induced pluripotent stem cells from pediatric patients with hematological diseases using a commercial mRNA kit.  Sfougataki I, Grafakos I, Varela I, Mitrakos A, Karagiannidou A, Tzannoudaki M, Poulou M, Mertzanian A, Roubelakis G M, Stefanaki K, Traeger-Synodinos J, Kanavakis E, Kitra V, Tzetis M, Goussetis E. Blood Cells Mol Dis. 2019 May;76:32-39. doi: 10.1016/j.bcmd.2019.01.003. Epub 2019 Jan 24. PMID: 30709626

Regulation of globin-heme balance in Diamond-Blackfan anemia by HSP70/GATA1. Rio S, Gastou M, Karboul N, Derman R, Suriyun T, Manceau H, Leblanc T, El Benna J, Schmitt C, Azouzi S, Larghéro J, Karim Z, Macias-Garcia A, Chen JJ, Hermine O, Courtois G, Puy H, Gouya L, Mohandas N, Da Costa L. Blood. 2019 Mar 21;133(12):1358-1370. doi: 10.1182/blood-2018-09-875674. Epub 2019 Jan 30. PMID: 30700418