Peering through zebrafish to understand inherited bone marrow failure syndromes. Oyarbide U, Topczewski J, Corey SJ. Haematologica. 2019 Jan;104(1):13-24. doi: 10.3324/haematol.2018.196105. Epub 2018 Dec 20. Review.  PMID: 30573510

Acquired and germline predisposition to bone marrow failure: Diagnostic features and clinical implications. Kallen ME, Dulau-Florea A, Wang W, Calvo KR. Semin Hematol. 2019 Jan;56(1):69-82. doi: 10.1053/j.seminhematol.2018.05.016. Epub 2018 Jun 23. Review. PMID: 30573048

Complexities of genetic diagnosis illustrated by an atypical case of congenital hypoplastic anemia. Claassen D, Boals M, Bowling KM, Cooper GM, Cox J, Hershfield M, Lewis S, Wlodarski M, Weiss MJ, Estepp JH. Cold Spring Harb Mol Case Stud. 2018 Dec 17;4(6). pii: a003384. doi: 10.1101/mcs.a003384. Print 2018 Dec. PMID: 30559313

A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity. Roberti D, Conforti R, Giugliano T, Brogna B, Tartaglione I, Casale M, Piluso G, Perrotta S. Front Genet. 2018 Nov 19;9:549. doi: 10.3389/fgene.2018.00549. eCollection 2018. PMID: 30524470 

Single-cell analyses demonstrate that a heme-GATA1 feedback loop regulates red cell differentiation.  Doty RT, Yan X, Lausted C, Munday AD, Yang Z, Yi D, Jabbari N, Liu L, Keel SB, Tian Q, Abkowitz JL. Blood. 2019 Jan 31;133(5):457-469. doi: 10.1182/blood-2018-05-850412. Epub 2018 Dec 10. PMID: 30530752

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. 2018 Dec 6;103(6):930-947. doi: 10.1016/j.ajhg.2018.10.027. Epub 2018 Nov 29. Erratum in: Am J Hum Genet. 2019 Feb 7;104(2):356PMID: 30503522

How I manage children with Diamond-Blackfan anaemia. Bartels M, Bierings M. Br J Haematol. 2019 Jan;184(2):123-133. doi: 10.1111/bjh.15701. Epub 2018 Dec 4. Review. PMID: 30515771

A potential link between p53, cell competition and ribosomopathy in mammals and in Drosophila. Baker NE, Kiparaki M, Khan C. Dev Biol. 2019 Feb 1;446(1):17-19. doi: 10.1016/j.ydbio.2018.11.018. Epub 2018 Dec 2. PMID: 30513308

LHX3 deficiency presenting in the United States with severe developmental delay in a child of Syrian refugee parents. Ahern S, Daniels M, Bhangoo A. Endocrinol Diabetes Metab Case Rep. 2018;2018. pii: EDM180079. doi: 10.1530/EDM-18-0079. Epub 2018 Nov 22. PMID: 30481152

Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation. Garelli E, Quarello P, Giorgio E, Carando A, Menegatti E, Mancini C, Di Gregorio E, Crescenzio N, Palumbo O, Carella M, Dimartino P, Pippucci T, Dianzani I, Ramenghi U, Brusco A. Br J Haematol. 2019 Jun;185(5):994-998. doi: 10.1111/bjh.15688. Epub 2018 Nov 20. No abstract available. PMID: 30460677

Author Correction: 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. 2018 Nov 16;8(1):17227. doi: 10.1038/s41598-018-35522-0. PMID: 30442972

Emerging Therapeutic Approaches for Diamond Blackfan Anemia. Aspesi A, Borsotti C, Follenzi A. Curr Gene Ther. 2018;18(6):327-335. doi: 10.2174/1566523218666181109124538.PMID: 30411682

Vasculopathy, Immunodeficiency, and Bone Marrow Failure: The Intriguing Syndrome Caused by Deficiency of Adenosine Deaminase 2.  Lee PY. Front Pediatr. 2018 Oct 18;6:282. doi: 10.3389/fped.2018.00282. eCollection 2018. Review. PMID: 30406060

Ribosomal biogenesis as an emerging target of neurodevelopmental pathologies. Hetman M, Slomnicki LP. J Neurochem. 2019 Feb;148(3):325-347. doi: 10.1111/jnc.14576. Epub 2018 Nov 12. Review. PMID: 30144322

Pre-Ribosomal RNA Processing in Human Cells: From Mechanisms to Congenital Diseases. Aubert M, O’Donohue MF, Lebaron S, Gleizes PE. Biomolecules. 2018 Oct 24;8(4). pii: E123. doi: 10.3390/biom8040123. Review. PMID: 30356013

Whole-exome sequencing enables correct diagnosis and surgical management of rare inherited childhood anemia. Khurana M, Edwards D, Rescorla F, Miller C, He Y, Sierra Potchanant E, Nalepa G. Cold Spring Harb Mol Case Stud. 2018 Oct 1;4(5). pii: a003152. doi: 10.1101/mcs.a003152. Print 2018 Oct. PMID: 30275003

Increased risk of colon cancer and osteogenic sarcoma in Diamond Blackfan anemia. Vlachos A, Rosenberg PS, Atsidaftos E, Kang J, Onel K, Sharaf RN, Alter BP, Lipton JM.
Blood. 2018 Sep 28. pii: blood-2018-05-848937. doi: 10.1182/blood-2018-05-848937. [Epub ahead of print] No abstract available. PMID: 30266775

An update on the pathogenesis and diagnosis of Diamond-Blackfan anemia. Da Costa L, Narla A, Mohandas N. F1000Res. 2018 Aug 29;7. pii: F1000 Faculty Rev-1350. Doi: 10.12688/f1000research. 15542.1. eCollection 2018. Review. PMID: 30228860

Somatic reversion events point towards RPL4 as a novel disease gene in a condition resembling Diamond-Blackfan Anemia. Jongmans MCJ, Diets IJ, Quarello P, Garelli E, Kuiper RP, Pfundt R. Haematologica. 2018 Sep 13. pii: haematol.2018.200683. doi: 10.3324/haematol.2018.200683. [Epub ahead of print] No abstract available.PMID: 30213830

Molecular basis for disassembly of an importin:ribosomal protein complex by the escortin Tsr2. Schütz S, Michel E, Damberger FF, Oplová M, Peña C, Leitner A, Aebersold R, Allain FH, Panse VG. Nat Commun. 2018 Sep 10;9(1):3669. doi: 10.1038/s41467-018-06160-x. PMID: 30201955

Rare anemias from the group of congenital bone marrow failure syndromes. Pospíšilová D. Vnitr Lek. 2018 Summer;64(5):488-500. PMID: 30193517

Utilizing Whole-Exome Sequencing to Characterize the Phenotypic Variability of Sickle Cell Disease. Alsultan A, Al-Suliman AM, Aleem A, AlGahtani FH, Alfadhel M. Genet Test Mol Biomarkers. 2018 Sep;22(9):561-567. doi: 10.1089/gtmb.2018.0058. Epub 2018 Sep 5.PMID: 30183354

De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome. Toki T, Yoshida K, Wang R, Nakamura S, Maekawa T, Goi K, Katoh MC, Mizuno S, Sugiyama F, Kanezaki R, Uechi T, Nakajima Y, Sato Y, Okuno Y, Sato-Otsubo A, Shiozawa Y, Kataoka K, Shiraishi Y, Sanada M, Chiba K, Tanaka H, Terui K, Sato T, Kamio T, Sakaguchi H, Ohga S, Kuramitsu M, Hamaguchi I, Ohara A, Kanno H, Miyano S, Kojima S, Ishiguro A, Sugita K, Kenmochi N, Takahashi S, Eto K, Ogawa S, Ito E. Am J Hum Genet. 2018 Sep 6;103(3):440-447. doi: 10.1016/j.ajhg.2018.07.020. Epub 2018 Aug 23. PMID: 30146126

[Diagnostic targets and exosome sequence analysis of Diamond-Blackfan anemia in Japan]. Toki T, Ito E. Rinsho Ketsueki. 2018;59(7):945-952. doi: 10.11406/rinketsu.59.945. Japanese.PMID: 30078807

Critical Issues in Diamond-Blackfan Anemia and Prospects for Novel Treatment.  Li H, Lodish HF, Sieff CA. Hematol Oncol Clin North Am. 2018 Aug;32(4):701-712. doi: 10.1016/j.hoc.2018.04.005. Epub 2018 Jun 5. Review. PMID: 30047421

The histopathology of bone marrow failure in children. Iwafuchi H. J Clin Exp Hematop. 2018;58(2):68-86. doi: 10.3960/jslrt.18018. Review. PMID: 29998978

[Inherited bone marrow failure syndrome: management and diagnostic advances utilizing next-generation sequencing]. Muramatsu H. Rinsho Ketsueki. 2018;59(6):716-722. doi: 10.11406/rinketsu.59.716. Japanese. PMID: 29973450

Correction to: Atypical erythroblastosis in a patient with Diamond-Blackfan anemia who developed del(20q) myelodysplasia. Sonoda M, Ishimura M, Ichimiya Y, Terashi E, Eguchi K, Sakai Y, Takada H, Hama A, Kanno H, Toki T, Ito E, Ohga S. Int J Hematol. 2018 Aug;108(2):236. doi: 10.1007/s12185-018-2493-4. PMID: 29967977

Pancreatic lipomatosis in Diamond-Blackfan anemia: The importance of genetic testing in bone marrow failure disorders. Gansner JM, Furutani E, Campagna DR, Fleming MD, Shimamura A. Am J Hematol. 2018 Sep;93(9):1194-1195. doi: 10.1002/ajh.25155. Epub 2018 Sep 6. No abstract available. PMID: 29885000

A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia. Aspesi A, Betti M, Sculco M, Actis C, Olgasi C, Wlodarski MW, Vlachos A, Lipton JM, Ramenghi U, Santoro C, Follenzi A, Ellis SR, Dianzani I.  Hum Mutat. 2018 Aug;39(8):1102-1111. doi: 10.1002/humu.23551. Epub 2018 May 28. PMID: 29766597

Increased Prevalence of Congenital Heart Disease in Children With Diamond Blackfan AnemiaSuggests Unrecognized Diamond Blackfan Anemia as a Cause of Congenital Heart Disease in the General Population: A Report of the Diamond Blackfan Anemia Registry. Vlachos A, Osorio DS, Atsidaftos E, Kang J, Lababidi ML, Seiden HS, Gruber D, Glader BE, Onel K, Farrar JE, Bodine DM, Aspesi A, Dianzani I, Ramenghi U, Ellis SR, Lipton JM.  Circ Genom Precis Med. 2018 May;11(5):e002044. doi: 10.1161/CIRCGENETICS.117.002044. No abstract available. PMID: 29748317

Identification of novel drug targets for diamond-blackfan anemia based on RPS19 gene mutation using protein-protein interaction network. Khan A, Ali A, Junaid M, Liu C, Kaushik AC, Cho WCS, Wei DQ. BMC Syst Biol. 2018 Apr 24;12(Suppl 4):39. doi: 10.1186/s12918-018-0563-0. PMID: 29745857

Assessment of liver and cardiac iron overload using MRI in patients with chronic anemias in Latin American countries: results from ASIMILA study. Cancado R, Watman NP, Lobo C, Chona Z, Manzur F, Traina F, Park M, Drelichman G, Zarate JP, Marfil L. Hematology. 2018  Oct;23(9):676-682.  doi: 10.1080/10245332.2018.1461292. Epub 2018 Apr 17. PMID: 29663858

Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia.  Wlodarski MW, Da Costa L, O’Donohue MF, Gastou M, Karboul N, Montel-Lehry N, Hainmann I, Danda D, Szvetnik A, Pastor V, Paolini N, di Summa FM, Tamary H, Quider AA, Aspesi A, Houtkooper RH, Leblanc T, Niemeyer CM, Gleizes PE, MacInnes AW. Haematologica. 2018 Jun;103(6):949-958. doi: 10.3324/haematol.2017.177980. Epub 2018 Mar 29. PMID: 29599205 

Innate immune system activation in zebrafish and cellular models of Diamond Blackfan Anemia. Danilova N, Wilkes M, Bibikova E, Youn MY, Sakamoto KM, Lin S. Sci Rep. 2018 Mar 26;8(1):5165. doi: 10.1038/s41598-018-23561-6. PMID: 29581525

Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis. Khajuria RK, Munschauer M, Ulirsch JC, Fiorini C, Ludwig LS, McFarland SK, Abdulhay NJ, Specht H, Keshishian H, Mani DR, Jovanovic M, Ellis SR, Fulco CP, Engreitz JM, Schütz S, Lian J, Gripp KW, Weinberg OK, Pinkus GS, Gehrke L, Regev A, Lander ES, Gazda HT, Lee WY, Panse VG, Carr SA, Sankaran VG. Cell. 2018 Mar 22;173(1):90-103.e19. doi: 10.1016/j.cell.2018.02.036. Epub 2018 Mar 15. PMID: 29551269

Diagnostic and prognostic implications of ribosomal protein transcript expression patterns in human cancers. Dolezal JM, Dash AP, Prochownik EV. BMC Cancer. 2018 Mar 12;18(1):275. doi: 10.1186/s12885-018-4178-z. PMID: 29530001

Atypical erythroblastosis in a patient with Diamond-Blackfan anemia who developed del(20q) myelodysplasia. Sonoda M, Ishimura M, Ichimiya Y, Terashi E, Eguchi K, Sakai Y, Takada H, Hama A, Kanno H, Toki T, Ito E, Ohga S. Int J Hematol. 2018 Feb 23. doi: 10.1007/s12185-018-2424-4. [Epub ahead of print] PMID: 29476317

Ribosome biogenesis protein Urb2 regulates hematopoietic stem cells development via P53 pathway in zebrafish. Cai P, Mao X, Zhao J, Luo L. Biochem Biophys Res Commun. 2018 Mar 4;497(2):776-782. doi: 10.1016/j.bbrc.2018.02.153. Epub 2018 Feb 19. PMID: 29470984

Quantum Language of MicroRNA: Application for New Cancer Therapeutic Targets. Fujii YR. Methods Mol Biol. 2018;1733:145-157. doi: 10.1007/978-1-4939-7601-0_12. PMID: 29435930

Csde1 binds transcripts involved in protein homeostasis and controls their expression in an erythroid cell line. Moore KS, Yagci N, van Alphen F, Paolini NA, Horos R, Held NM, Houtkooper RH, van den Akker E, Meijer AB, ‘t Hoen PAC, von Lindern M. Sci Rep. 2018 Feb 8;8(1):2628. doi: 10.1038/s41598-018-20518-7. PMID: 29422612

Ribonuclease inhibitor 1 regulates erythropoiesis by controlling GATA1 mRNA translation. Chennupati V, Veiga DF, Maslowski KM, Andina N, Tardivel A, Yu EC, Stilinovic M, Simillion C, Duchosal MA, Quadroni M, Roberts I, Sankaran VG, MacDonald HR, Fasel N, Angelillo-Scherrer A, Schneider P, Hoang T, Allam R. J Clin Invest. 2018 Feb 6. pii: 94956. doi: 10.1172/JCI94956. [Epub ahead of print] PMID: 29408805

GATA1 insufficiencies in primary myelofibrosis and other hematopoietic disorders: consequences for therapy. Ling T, Crispino JD, Zingariello M, Martelli F, Migliaccio AR. Expert Rev Hematol. 2018 Feb 5. doi: 10.1080/17474086.2018.1436965. [Epub ahead of print] PMID: 29400094

Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias. Russo R, Andolfo I, Manna F, Gambale A, Marra R, Rosato BE, Caforio P, Pinto V, Pignataro P, Radhakrishnan K, Unal S, Tomaiuolo G, Forni GL, Iolascon A. Am J Hematol. 2018 Feb 3. doi: 10.1002/ajh.25058. [Epub ahead of print] PMID: 29396846

Tissue-selective effects of nucleolar stress and rDNA damage in developmental disorders. Calo E, Gu B, Bowen ME, Aryan F, Zalc A, Liang J, Flynn RA, Swigut T, Chang HY, Attardi LD, Wysocka J. Nature. 2018 Feb 1;554(7690):112-117. doi: 10.1038/nature25449. Epub 2018 Jan 24. PMID: 29364875

Cross talk between TP53 and c-Myc in the pathophysiology of Diamond-Blackfan anemia: Evidence from RPL11-deficient in vivo and in vitro models. Chakraborty A, Uechi T, Nakajima Y, Gazda HT, O’Donohue MF, Gleizes PE, Kenmochi N. Biochem Biophys Res Commun. 2018 Jan 8;495(2):1839-1845. doi: 10.1016/j.bbrc.2017.12.019. Epub 2017 Dec 7. PMID: 29225165