DBAR Articles

  1. Lipton JM, Federman N, Khabbaze Y, Schwartz CL, Hilliard LM, Clark JI, Vlachos A.  Osteogenic Sarcoma Associated with Diamond Blackfan Anemia: A Report from the Diamond Blackfan Anemia Registry.  J Pediatr Hematol Oncol 2000; 23(1):39-44. 

  2. Vlachos A, Federman N, Reyes-Haley C, Abramson J, Lipton JM.  Hematopoietic Stem Cell Transplantation for Diamond Blackfan Anemia: A Report from the Diamond Blackfan Anemia Registry.  Bone Marrow Transplantation 2001; 27:381-386.           

  3. Gazda H, Lipton JM, Niemeyer CM, Willig TN, Ball S, Niemeyer CM, Tchernia G, Mohandas N, Daly MJ, Ploszynska A, Orfali KA, Vlachos A, Glader BE, Rokicka-Milewska R, Ohara A, Baker D, Pospisilova D, Webber A, Viskochil DH, Nathan DG, Beggs AH, Sieff CA.  Evidence for linkage of familial Diamond-Blackfan Anemia to chromosome 8p23.2-23.1 and for non-19q non-8p disease.  Blood 2001; 97(7):2145-2150. 

  4. Gripp KW, McDonald-McGinn DM, La Rossa D, McGain D, Federman N, Vlachos A, Glader BE, McKenzie SE, Lipton JM, Zackai EH.  Bilateral Microtia and Cleft Palate in Cousins with Diamond Blackfan Anemia.  Am J Med Genet 2001; 101(3):268-274.   

  5. Vlachos A, Klein GW, Lipton JM.  The Diamond Blackfan Anemia Registry: A Tool for Investigating the Epidemiology and Biology of Diamond Blackfan Anemia.  J Pediatr Hematol Oncol 2001; 23(6):377-382.

  6. Gazda H, Zhong R, Long L, Niewiadomska E, Lipton JM, Ploszynska A, Zaucha JM, Vlachos A, Atsidaftos E, Viskochil DH, Niemeyer CM, Meerpohl J, Rokicka-Milewska R, Pospisilova D, Wiktor-Jedrzejczak W, Nathan DG, Beggs AH, Sieff CA. RNA and protein evidence of haploinsufficiency in Diamond-Blackfan anemia patients with RPS19 mutations.  Br J Haematol 2004; 127:105-113.      

  7. Lipton JM. Diamond blackfan anemia: New paradigms for a "not so pure" inherited red cell aplasia. Semin Hematol. 2006 Jul;43(3):167-77. Review.

  8. Lipton JM, Atsidaftos E, Zyskind I, Vlachos A. Improving clinical care and elucidating the pathophysiology of Diamond Blackfan Anemia: an update from the Diamond Blackfan Anemia Registry. Pediatr Blood Cancer 2006; 46(5):558-564.         

  9. Gazda HT, Grabowska A, Merida-Long LB, Latawiec E, Schneider HE, Lipton JM, Vlachos A, Atsidaftos E, Ball SE, Orfali KA, Niewiadomska E, Da Costa L, Tchernia G, Niemeyer C, Meerpohl JJ, Stahl J, Schratt G, Glader B, Backer K, Wong C, Nathan DG, Beggs AH, Sieff CA. Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. Am J Hum Genet 2006; 79(6):1110-1118. 

  10. Farrar JE, Nater M, Caywood E, McDevitt MA, Kowalski J, Takemoto CM, Talbot Jr. CC, Meltzer P, Esposito D, Beggs AH, Schneider HE, Grabowska A, Ball SE, Niewiadomska E, Sieff CA, Vlachos A, Atsidaftos E, Ellis SR, Lipton JM, Gazda HT, Arceci RJ. Abnormalities of the large ribosomal subunit protein, Rpl35A, in Diamond-Blackfan anemia. Blood 2008 Sep 1;112(5):1582-1592.         

  11. Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, Meerpohl J, Karlsson S, Liu J, LeBlanc T, Paley C, Kang E, Judmann Leder E, Atsidaftos E, Shimamura A, Bessler M, Glader B, Lipton JM.  Diagnosing and Treating Diamond Blackfan Anemia: Results of an International Clinical Consensus Conference. Br J Haematol 2008 Sep; 142(6):859-876.      

  12. Gazda HT, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Schneider H, Darras N, Hasman C, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Zaucha JM, Glader B, Niemeyer C, Meerpohl JJ, Atsidaftos E, Lipton JM, Gleizes PE, Beggs AH.  Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. Am J Hum Genet 2008; 83:769-780. 

  13. Ellis SR, Lipton JM. Diamond Blackfan anemia: a disorder of red blood cell development. Curr Top Dev Biol. 2008;82:217-41.

  14. Du HY, Pumbo E, Ivanovich J, An P, Maziarz RT, Reiss UM, Chirnomas D, Shimamura A, Vlachos A, Lipton JM, Goyal RK, Goldman F, Wilson DB, Mason PJ, Bessler M.  TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements. Blood 2009; 113:309-316.      

  15. Lipton JM, Ellis SR. Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis. Hematol Oncol Clin North Am. 2009 Apr;23(2):261-82.

  16. Doherty L, Sheen MR, Vlachos A, Choesmel V, O'Donohue M, Clinton C, Schneider H, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Glader B, Atsidaftos E, Lipton JM, Gleizes P-E, Gazda HT. Ribosomal protein genes S10 and S26 are commonly mutated in Diamond-Blackfan anemia. Am J Hum Genet 2010 Feb 12;86(2):222-228. Epub 2010 Jan 28. Erratum in: Am J Hum Genet 2010 Apr 9;86(4):655. 

  17. Narla A, Vlachos A, Nathan DG. Diamond Blackfan anemia treatment: past, present, and future. Semin Hematol 2011 Apr;48(2):117-123.   

  18. Vlachos A, Muir E. How I treat Diamond-Blackfan anemia. Blood 2010 Nov 11;116(19):3715-3723. PMCID: PMC2981532             

  19. Boria I, Garelli E, Gazda HT, Aspesi A, Quarello P, Pavesi E, Ferrante D, Meerpohl JJ, Kartal M, Da Costa L, Proust A, Leblanc T, Simansour M, Dahl N, Fröjmark AS, Pospisilova D, Cmejla R, Beggs AH, Sheen MR, Landowski M, Buros CM, Clinton CM, Dobson LJ, Vlachos A, Atsidaftos E, Lipton JM, Ellis SR, Ramenghi U, Dianzani I. The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update. Hum Mutat 2010 Dec; 31(12):1269-1279.  

  20. Vlachos A, Dahl N, Dianzani I, Lipton JM. Clinical utility gene card for: Diamond Blackfan anemia.  Eur J Hum Genet 2011 May;19(5). doi: 10.1038/ejhg.2010.247. PMCID: PMC3083626 

  21. Farrar JE, Vlachos A, Atsidaftos E, Carlson-Donohoe H, Markello TC, Arceci RJ, Ellis SR, Lipton JM, Bodine DM. Ribosomal protein gene deletions in Diamond-Blackfan anemia. Blood 2011 Dec 22;118(26):6943-6951. 

  22. Markello TC, Carlson-Donohoe H, Sincan M, Adams D, Bodine DM, Farrar JE, Vlachos A, Lipton JM, Auerbach AD, Ostrander EA, Chandrasekharappa SC, Boerkoel CF, Gahl WA. Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function. Mol Genet Metab 2012 Apr;105(4):665-671       

  23. Vlachos A, Rosenberg PS, Atsidaftos E, Alter BP, Lipton JM. The incidence of neoplasia in Diamond-Blackfan anemia: a report from the Diamond-Blackfan Anemia Registry. Blood 2012 Apr 19;119(16):3815-3819.

  24. Gazda HT, Preti M, Sheen MR, O'Donohue MF, Vlachos A, Davies SM, Kattamis A, Doherty L, Landowski M, Buros C, Ghazvinian R, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Glader B, Atsidaftos E, Lipton JM, Gleizes PE, Beggs AH.  Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-rRNA processing defect in Diamond-Blackfan anemia. Hum Mutat 2012 Jul;33(7):1037-1044. doi: 10.1002/humu.22081.     

  25. Vlachos A, Dahl N, Dianzani I, Lipton JM. Clinical utility gene card for: Diamond - Blackfan anemia - update 2013. Eur J Hum Genet 2013 Oct;21(10).PMCID:PMC3778360 http://www.nature.com/ejhg/journal/v21/n10/full/ejhg201334a.html           

  26. 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. Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q- syndrome. Blood 2013 Oct 3;122(14):2487-2490. PMCID: PMC 3790513 

  27. 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. Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. Hum Genet 2013 Nov;132(11):1265-1274. PMCID: PMC3797874 

  28. Vlachos A, Blanc L, Lipton JM. Diamond Blackfan anemia: a model for the translational approach to understanding human disease. Expert Rev Hematol 2014; Early online, 1–14. 

  29. Farrar JE, Quarello P, Fisher R, et al. Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis. Am J Hematol. 2014;89(10):985–991. doi:10.1002/ajh.23807

  30. Singh SA, Goldberg TA, Henson AL, Husain-Krautter S, Nihrane A, Blanc L, Ellis SR, Lipton JM, Liu JM. p53-Independent cell cycle and erythroid differentiation defects in murine embryonic stem cells haploinsufficient for Diamond Blackfan anemia-proteins: RPS19 versus RPL5. PLoS One. 2014 Feb 18;9(2):e89098.

  31. Kessel, R., Vlachos, A., & Lipton, J. M. (2015). Ribosomopathy association with colorectal cancer. Gastroenterology, 148(1), 258.

  32. Lahoti A, Harris YT, Speiser PW, Atsidaftos E, Lipton JM, Vlachos A. Endocrine Dysfunction in Diamond-Blackfan Anemia (DBA): A Report from the DBA Registry (DBAR). Pediatr Blood Cancer. 2016;63(2):306–312. doi:10.1002/pbc.25780

  33. Dulmovits BM, Appiah-Kubi AO, Papoin J, Hale J, He M, Al-Abed Y, Didier S, Gould M, Husain-Krautter S, Singh SA, Chan KW, Vlachos A, Allen SL, Taylor N, Marambaud P, An X, Gallagher PG, Mohandas N, Lipton JM, Liu JM, Blanc L. Pomalidomide reverses γ-globin silencing through the transcriptional reprogramming of adult hematopoietic progenitors. Blood. 2016;127(11):1481–1492. doi:10.1182/blood-2015-09-667923

  34. 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. 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. Biol Blood Marrow Transplant. 2017;23(5):726–735. doi:10.1016/j.bbmt.2017.01.07.

  35. 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. Molecular convergence in ex vivo models of Diamond-Blackfan anemia. Blood. 2017;129(23):3111–3120. doi:10.1182/blood-2017-01-760462

  36. Dietz AC, Savage SA, Vlachos A, et al. 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. Biol Blood Marrow Transplant. 2017;23(9):1422–1428. doi:10.1016/j.bbmt.2017.05.022

  37. 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. Increased Prevalence of Congenital Heart Disease in Children With Diamond Blackfan Anemia Suggests Unrecognized Diamond Blackfan Anemia as a Cause of Congenital Heart Disease in the General Population: A Report of the Diamond Blackfan Anemia Registry. Circ Genom Precis Med. 2018;11(5):e002044. doi:10.1161/CIRCGENETICS.117.002044

  38. 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. A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia. Human mutation, 39(8), 1102–1111. doi:10.1002/humu.23551

  39. Vlachos, A., Rosenberg, P.S., Atsidaftos, E., Kang, J., Onel, K., Sharaf, R.N., Alter, B.P. and Lipton, J.M., 2018. Increased risk of colon cancer and osteogenic sarcoma in Diamond-Blackfan anemia. Blood, 132(20), p.2205.

  40. Ulirsch, J.C., Verboon, J.M., Kazerounian, S., Guo, M.H., Yuan, D., Ludwig, L.S., Handsaker, R.E., Abdulhay, N.J., Fiorini, C., Genovese, G. and Lim, E.T., 2018. The Genetic Landscape of Diamond-Blackfan Anemia. The American Journal of Human Genetics, 103(6), pp.930-947.

  41. Vlachos A, Atsidaftos E, Lababidi ML, et al. L-leucine improves anemia and growth in patients with transfusion-dependent Diamond-Blackfan anemia: Results from a multicenter pilot phase I/II study from the Diamond-Blackfan Anemia Registry. Pediatr Blood Cancer. 2020; e28748. https://doi.org/10.1002/pbc.28748