{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T23:07:21Z","timestamp":1790291241588,"version":"4.1.0"},"reference-count":83,"publisher":"Elsevier BV","issue":"11","license":[{"start":{"date-parts":[[2018,11,1]],"date-time":"2018-11-01T00:00:00Z","timestamp":1541030400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,11,1]],"date-time":"2018-11-01T00:00:00Z","timestamp":1541030400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2017,11,16]],"date-time":"2017-11-16T00:00:00Z","timestamp":1510790400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009941","name":"Ministry of Defence","doi-asserted-by":"publisher","award":["ANR-12-RARE-0007-02"],"award-info":[{"award-number":["ANR-12-RARE-0007-02"]}],"id":[{"id":"10.13039\/100009941","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009941","name":"Ministry of Defence","doi-asserted-by":"publisher","award":["ERA-NET-E-Rare-3\/I\/EuroDBA\/05\/2016"],"award-info":[{"award-number":["ERA-NET-E-Rare-3\/I\/EuroDBA\/05\/2016"]}],"id":[{"id":"10.13039\/100009941","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002347","name":"Bundesministerium f\u00fcr Bildung und Forschung","doi-asserted-by":"publisher","award":["01GM1301"],"award-info":[{"award-number":["01GM1301"]}],"id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002347","name":"Bundesministerium f\u00fcr Bildung und Forschung","doi-asserted-by":"publisher","award":["01GM1609"],"award-info":[{"award-number":["01GM1609"]}],"id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GGP13177"],"award-info":[{"award-number":["GGP13177"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004410","name":"T\u00fcrkiye Bilimsel ve Teknolojik Ara\u015ftirma Kurumu","doi-asserted-by":"publisher","award":["315S192"],"award-info":[{"award-number":["315S192"]}],"id":[{"id":"10.13039\/501100004410","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006544","name":"Ministry of Health, State of Israel","doi-asserted-by":"publisher","award":["3-12844"],"award-info":[{"award-number":["3-12844"]}],"id":[{"id":"10.13039\/501100006544","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006544","name":"Ministry of Health, State of Israel","doi-asserted-by":"publisher","award":["ANR-15-RAR3-0007-04"],"award-info":[{"award-number":["ANR-15-RAR3-0007-04"]}],"id":[{"id":"10.13039\/501100006544","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2018,11]]},"DOI":"10.1016\/j.ejmg.2017.10.017","type":"journal-article","created":{"date-parts":[[2017,10,26]],"date-time":"2017-10-26T02:47:04Z","timestamp":1508986024000},"page":"664-673","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":68,"title":["Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience"],"prefix":"10.1016","volume":"61","author":[{"given":"Lydie","family":"Da Costa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1204-8285","authenticated-orcid":false,"given":"Marie-Fran\u00e7oise","family":"O'Donohue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8889-3362","authenticated-orcid":false,"given":"Birgit","family":"van Dooijeweert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katarzyna","family":"Albrecht","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sule","family":"Unal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ugo","family":"Ramenghi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Leblanc","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irma","family":"Dianzani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah","family":"Tamary","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marije","family":"Bartels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre-Emmanuel","family":"Gleizes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcin","family":"Wlodarski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alyson W.","family":"MacInnes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"8","key":"10.1016\/j.ejmg.2017.10.017_bib1","doi-asserted-by":"crossref","first-page":"2687","DOI":"10.1182\/blood.V100.8.2687","article-title":"Response of Diamond-Blackfan anemia to metoclopramide: evidence for a role for prolactin in erythropoiesis","volume":"100","author":"Abkowitz","year":"2002","journal-title":"Blood"},{"issue":"5","key":"10.1016\/j.ejmg.2017.10.017_bib2","doi-asserted-by":"crossref","DOI":"10.1182\/blood-2002-11-3597","article-title":"Cancer in Fanconi anemia","volume":"101","author":"Alter","year":"2003","journal-title":"Blood"},{"issue":"5","key":"10.1016\/j.ejmg.2017.10.017_bib3","doi-asserted-by":"crossref","first-page":"E139","DOI":"10.1371\/journal.pbio.0020139","article-title":"Many ribosomal protein genes are cancer genes in zebrafish","volume":"2","author":"Amsterdam","year":"2004","journal-title":"PLoS Biol."},{"issue":"1","key":"10.1016\/j.ejmg.2017.10.017_bib2a","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-017-12307-5","article-title":"Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy","volume":"7","author":"Aspesi","year":"2017","journal-title":"Sci. Rep."},{"issue":"4","key":"10.1016\/j.ejmg.2017.10.017_bib4","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1046\/j.1365-2141.1996.d01-1839.x","article-title":"Diamond-Blackfan anaemia in the U.K.: analysis of 80 cases from a 20-year birth cohort","volume":"94","author":"Ball","year":"1996","journal-title":"Br. J. Haematol."},{"issue":"2","key":"10.1016\/j.ejmg.2017.10.017_bib5","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1182\/blood.V83.2.617.bloodjournal832617","article-title":"Sustained response after recombinant interleukin-3 in diamond blackfan anemia","volume":"83","author":"Bastion","year":"1994","journal-title":"Blood"},{"issue":"6135","key":"10.1016\/j.ejmg.2017.10.017_bib6","doi-asserted-by":"crossref","first-page":"976","DOI":"10.1126\/science.1234864","article-title":"Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia","volume":"340","author":"Bolze","year":"2013","journal-title":"Science"},{"issue":"11","key":"10.1016\/j.ejmg.2017.10.017_bib7","doi-asserted-by":"crossref","first-page":"E263","DOI":"10.1002\/humu.20864","article-title":"A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia","volume":"29","author":"Boria","year":"2008","journal-title":"Hum. Mutat."},{"issue":"12","key":"10.1016\/j.ejmg.2017.10.017_bib8","doi-asserted-by":"crossref","first-page":"1269","DOI":"10.1002\/humu.21383","article-title":"The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update","volume":"31","author":"Boria","year":"2010","journal-title":"Hum. Mutat."},{"issue":"4","key":"10.1016\/j.ejmg.2017.10.017_bib9","first-page":"480","article-title":"Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature","volume":"89","author":"Campagnoli","year":"2004","journal-title":"Haematologica"},{"issue":"3","key":"10.1016\/j.ejmg.2017.10.017_bib10","doi-asserted-by":"crossref","first-page":"1275","DOI":"10.1182\/blood-2006-07-038372","article-title":"Impaired ribosome biogenesis in Diamond-Blackfan anemia","volume":"109","author":"Choesmel","year":"2007","journal-title":"Blood"},{"issue":"9","key":"10.1016\/j.ejmg.2017.10.017_bib11","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1093\/hmg\/ddn015","article-title":"Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder","volume":"17","author":"Choesmel","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ejmg.2017.10.017_bib12","unstructured":"Clinton C, Gazda HT. Diamond-Blackfan anemia. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al., editors. GeneReviews(R). Seattle (WA): University of Washington, Seattle University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.; 1993."},{"issue":"12","key":"10.1016\/j.ejmg.2017.10.017_bib13","doi-asserted-by":"crossref","first-page":"1178","DOI":"10.1002\/humu.20608","article-title":"Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia","volume":"28","author":"Cmejla","year":"2007","journal-title":"Hum. Mutat."},{"issue":"4","key":"10.1016\/j.ejmg.2017.10.017_bib14","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1007\/s12185-016-1951-0","article-title":"Allogeneic hematopoietic stem cell transplantation for inherited bone marrow failure syndromes","volume":"103","author":"Dalle","year":"2016","journal-title":"Int. J. Hematol."},{"issue":"4","key":"10.1016\/j.ejmg.2017.10.017_bib15","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1038\/nbt.3513","article-title":"Targeted gene addition in human CD34(+) hematopoietic cells for correction of X-linked chronic granulomatous disease","volume":"34","author":"De Ravin","year":"2016","journal-title":"Nat. Biotechnol."},{"issue":"8","key":"10.1016\/j.ejmg.2017.10.017_bib16","doi-asserted-by":"crossref","first-page":"1805","DOI":"10.1016\/j.ymthe.2017.04.002","article-title":"Lentiviral vectors with cellular promoters correct anemia and lethal bone marrow failure in a mouse model for diamond-blackfan anemia","volume":"25","author":"Debnath","year":"2017","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"10.1016\/j.ejmg.2017.10.017_bib17","first-page":"464","article-title":"Hypoplastic anemia","volume":"56","author":"Diamond","year":"1938","journal-title":"Am. J. Dis. Child."},{"issue":"11","key":"10.1016\/j.ejmg.2017.10.017_bib18","doi-asserted-by":"crossref","first-page":"1601","DOI":"10.3324\/haematol.2008.000513","article-title":"Diamond-Blackfan anemia: a ribosomal puzzle","volume":"93","author":"Dianzani","year":"2008","journal-title":"Haematologica"},{"issue":"2","key":"10.1016\/j.ejmg.2017.10.017_bib19","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1016\/j.ajhg.2009.12.015","article-title":"Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia","volume":"86","author":"Doherty","year":"2010","journal-title":"Am. J. Hum. Genet."},{"issue":"2","key":"10.1016\/j.ejmg.2017.10.017_bib20","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1038\/5951","article-title":"The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia","volume":"21","author":"Draptchinskaia","year":"1999","journal-title":"Nat. Genet."},{"issue":"9","key":"10.1016\/j.ejmg.2017.10.017_bib21","doi-asserted-by":"crossref","first-page":"2567","DOI":"10.1182\/blood-2010-07-295238","article-title":"Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells","volume":"117","author":"Dutt","year":"2011","journal-title":"Blood"},{"issue":"4","key":"10.1016\/j.ejmg.2017.10.017_bib22","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1111\/bjh.12167","article-title":"Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia","volume":"160","author":"Fargo","year":"2013","journal-title":"Br. J. Haematol."},{"issue":"26","key":"10.1016\/j.ejmg.2017.10.017_bib23","doi-asserted-by":"crossref","first-page":"6943","DOI":"10.1182\/blood-2011-08-375170","article-title":"Ribosomal protein gene deletions in Diamond-Blackfan anemia","volume":"118","author":"Farrar","year":"2011","journal-title":"Blood"},{"issue":"10","key":"10.1016\/j.ejmg.2017.10.017_bib24","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1002\/ajh.23807","article-title":"Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis","volume":"89","author":"Farrar","year":"2014","journal-title":"Am. J. Hematol."},{"issue":"2","key":"10.1016\/j.ejmg.2017.10.017_bib25","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1053\/j.seminhematol.2011.02.004","article-title":"The role of p53 in ribosomopathies","volume":"48","author":"Fumagalli","year":"2011","journal-title":"Seminars Hematol."},{"issue":"6","key":"10.1016\/j.ejmg.2017.10.017_bib26","doi-asserted-by":"crossref","first-page":"912","DOI":"10.1182\/blood-2013-01-478321","article-title":"Ribosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients","volume":"122","author":"Garcon","year":"2013","journal-title":"Blood"},{"issue":"22","key":"10.1016\/j.ejmg.2017.10.017_bib1a","doi-asserted-by":"crossref","DOI":"10.1182\/bloodadvances.2017008078","article-title":"The severe phenotype of Diamond-Blackfan anemia is modulated by heat shock protein 70","volume":"1","author":"Gastou","year":"2017","journal-title":"Blood Adv."},{"issue":"6","key":"10.1016\/j.ejmg.2017.10.017_bib27","doi-asserted-by":"crossref","first-page":"1110","DOI":"10.1086\/510020","article-title":"Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia","volume":"79","author":"Gazda","year":"2006","journal-title":"Am. J. Hum. Genet."},{"issue":"6","key":"10.1016\/j.ejmg.2017.10.017_bib28","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1016\/j.ajhg.2008.11.004","article-title":"Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients","volume":"83","author":"Gazda","year":"2008","journal-title":"Am. J. Hum. Genet."},{"issue":"7","key":"10.1016\/j.ejmg.2017.10.017_bib29","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1002\/humu.22081","article-title":"Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia","volume":"33","author":"Gazda","year":"2012","journal-title":"Hum. Mutat."},{"issue":"2","key":"10.1016\/j.ejmg.2017.10.017_bib30","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1111\/j.1365-2141.1988.tb06184.x","article-title":"Elevated red cell adenosine deaminase activity: a marker of disordered erythropoiesis in Diamond-Blackfan anaemia and other haematologic diseases","volume":"68","author":"Glader","year":"1988","journal-title":"Br. J. Haematol."},{"issue":"9","key":"10.1016\/j.ejmg.2017.10.017_bib31","doi-asserted-by":"crossref","first-page":"2240","DOI":"10.1002\/ajmg.a.36633","article-title":"Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28","volume":"164a","author":"Gripp","year":"2014","journal-title":"Am. J. Med. Genet. Part A"},{"issue":"5","key":"10.1016\/j.ejmg.2017.10.017_bib32","doi-asserted-by":"crossref","first-page":"1388","DOI":"10.1086\/302100","article-title":"Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity","volume":"63","author":"Gustavsson","year":"1998","journal-title":"Am. J. Hum. Genet."},{"issue":"3","key":"10.1016\/j.ejmg.2017.10.017_bib33","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1056\/NEJM200301163480314","article-title":"A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency","volume":"348","author":"Hacein-Bey-Abina","year":"2003","journal-title":"N. Engl. J. Med."},{"issue":"5","key":"10.1016\/j.ejmg.2017.10.017_bib34","doi-asserted-by":"crossref","first-page":"e1004371","DOI":"10.1371\/journal.pgen.1004371","article-title":"Ribosomal protein mutations induce autophagy through S6 kinase inhibition of the insulin pathway","volume":"10","author":"Heijnen","year":"2014","journal-title":"PLoS Genet."},{"issue":"2","key":"10.1016\/j.ejmg.2017.10.017_bib35","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1002\/wrna.1269","article-title":"An overview of pre-ribosomal RNA processing in eukaryotes","volume":"6","author":"Henras","year":"2015","journal-title":"Wiley Interdiscip. Rev. RNA"},{"issue":"5","key":"10.1016\/j.ejmg.2017.10.017_bib36","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1111\/bjh.12058","article-title":"Molecular mechanisms of pathology and treatment in diamond blackfan anaemia","volume":"159","author":"Horos","year":"2012","journal-title":"Br. J. Haematol."},{"issue":"1","key":"10.1016\/j.ejmg.2017.10.017_bib37","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1182\/blood-2011-06-358200","article-title":"Ribosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and human erythroblasts","volume":"119","author":"Horos","year":"2012","journal-title":"Blood"},{"issue":"12","key":"10.1016\/j.ejmg.2017.10.017_bib38","doi-asserted-by":"crossref","first-page":"1792","DOI":"10.3324\/haematol.2014.111195","article-title":"Gene therapy cures the anemia and lethal bone marrow failure in a mouse model of RPS19-deficient Diamond-Blackfan anemia","volume":"99","author":"Jaako","year":"2014","journal-title":"Haematologica"},{"issue":"3","key":"10.1016\/j.ejmg.2017.10.017_bib39","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1097\/00005792-193615030-00001","article-title":"Anaemia of infancy and early childhood","volume":"15","author":"JOSEPHS","year":"1936","journal-title":"Medicine"},{"issue":"1","key":"10.1016\/j.ejmg.2017.10.017_bib40","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1002\/hep.20017","article-title":"Over-expression of the ribosomal protein L36a gene is associated with cellular proliferation in hepatocellular carcinoma","volume":"39","author":"Kim","year":"2004","journal-title":"Hepatology"},{"issue":"6","key":"10.1016\/j.ejmg.2017.10.017_bib41","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1111\/bjh.12919","article-title":"Recurrent GATA1 mutations in Diamond-Blackfan anaemia","volume":"166","author":"Klar","year":"2014","journal-title":"Br. J. Haematol."},{"issue":"10","key":"10.1016\/j.ejmg.2017.10.017_bib42","doi-asserted-by":"crossref","first-page":"2376","DOI":"10.1182\/blood-2011-07-368662","article-title":"Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia","volume":"119","author":"Kuramitsu","year":"2012","journal-title":"Blood"},{"issue":"11","key":"10.1016\/j.ejmg.2017.10.017_bib43","doi-asserted-by":"crossref","first-page":"1265","DOI":"10.1007\/s00439-013-1326-z","article-title":"Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia","volume":"132","author":"Landowski","year":"2013","journal-title":"Hum. Genet."},{"issue":"46","key":"10.1016\/j.ejmg.2017.10.017_bib44","doi-asserted-by":"crossref","first-page":"38177","DOI":"10.1074\/jbc.M506916200","article-title":"Specific role for yeast homologs of the diamond blackfan anemia-associated Rps19 protein in ribosome synthesis","volume":"280","author":"Leger-Silvestre","year":"2005","journal-title":"J. Biol. Chem."},{"issue":"7","key":"10.1016\/j.ejmg.2017.10.017_bib45","doi-asserted-by":"crossref","first-page":"748","DOI":"10.1038\/nm.3557","article-title":"Altered translation of GATA1 in Diamond-Blackfan anemia","volume":"20","author":"Ludwig","year":"2014","journal-title":"Nat. Med."},{"key":"10.1016\/j.ejmg.2017.10.017_bib46","doi-asserted-by":"crossref","first-page":"5105","DOI":"10.1038\/srep05105","article-title":"Adenoviral vector delivery of RNA-guided CRISPR\/Cas9 nuclease complexes induces targeted mutagenesis in a diverse array of human cells","volume":"4","author":"Maggio","year":"2014","journal-title":"Sci. Rep."},{"issue":"9","key":"10.1016\/j.ejmg.2017.10.017_bib47","doi-asserted-by":"crossref","first-page":"4032","DOI":"10.1128\/MCB.24.9.4032-4037.2004","article-title":"Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation","volume":"24","author":"Matsson","year":"2004","journal-title":"Mol. Cell. Biol."},{"issue":"1","key":"10.1016\/j.ejmg.2017.10.017_bib48","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1182\/blood-2013-11-540278","article-title":"Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families","volume":"124","author":"Mirabello","year":"2014","journal-title":"Blood"},{"issue":"6","key":"10.1016\/j.ejmg.2017.10.017_bib49","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1136\/jmedgenet-2016-104346","article-title":"Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation","volume":"54","author":"Mirabello","year":"2017","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2017.10.017_bib50","doi-asserted-by":"crossref","DOI":"10.1136\/jmedgenet-2016-104346","article-title":"Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation","author":"Mirabello","year":"2017","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2017.10.017_bib51","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1186\/1750-1172-6-49","article-title":"The potential investment impact of improved access to accelerated approval on the development of treatments for low prevalence rare diseases","volume":"6","author":"Miyamoto","year":"2011","journal-title":"Orphanet J. rare Dis."},{"key":"10.1016\/j.ejmg.2017.10.017_bib52","doi-asserted-by":"crossref","DOI":"10.1038\/cddis.2012.88","article-title":"Primary hematopoietic cells from DBA patients with mutations in RPL11 and RPS19 genes exhibit distinct erythroid phenotype in vitro","volume":"3","author":"Moniz","year":"2012","journal-title":"Cell death Dis."},{"issue":"2","key":"10.1016\/j.ejmg.2017.10.017_bib53","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1007\/s12185-011-0776-0","article-title":"Ribosome defects in disorders of erythropoiesis","volume":"93","author":"Narla","year":"2011","journal-title":"Int. J. Hematol."},{"issue":"3","key":"10.1016\/j.ejmg.2017.10.017_bib54","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1053\/j.gastro.2014.06.009","article-title":"Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency","volume":"147","author":"Nieminen","year":"2014","journal-title":"Gastroenterology"},{"key":"10.1016\/j.ejmg.2017.10.017_bib55","first-page":"1","article-title":"Diamond\u2013Blackfan anaemia: from genotype to phenotype","author":"Paolini","year":"2016","journal-title":"eLS"},{"issue":"3","key":"10.1016\/j.ejmg.2017.10.017_bib56","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1016\/j.ajhg.2017.01.034","article-title":"A ribosomopathy reveals decoding defective ribosomes driving human dysmorphism","volume":"100","author":"Paolini","year":"2017","journal-title":"Am. J. Hum. Genet."},{"issue":"7","key":"10.1016\/j.ejmg.2017.10.017_bib57","doi-asserted-by":"crossref","first-page":"1319","DOI":"10.1002\/pbc.24944","article-title":"Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype","volume":"61","author":"Parrella","year":"2014","journal-title":"Pediatr. Blood Cancer"},{"issue":"9","key":"10.1016\/j.ejmg.2017.10.017_bib58","doi-asserted-by":"crossref","first-page":"1168","DOI":"10.1038\/bmt.2015.117","article-title":"Recommendations on hematopoietic stem cell transplantation for inherited bone marrow failure syndromes","volume":"50","author":"Peffault de Latour","year":"2015","journal-title":"Bone marrow Transplant."},{"issue":"5","key":"10.1016\/j.ejmg.2017.10.017_bib59","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1016\/j.exphem.2013.12.010","article-title":"Translation of branched-chain aminotransferase-1 transcripts is impaired in cells haploinsufficient for ribosomal protein genes","volume":"42","author":"Pereboom","year":"2014","journal-title":"Exp. Hematol."},{"issue":"4","key":"10.1016\/j.ejmg.2017.10.017_bib60","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/j.bcmd.2012.02.002","article-title":"The Czech National Diamond-Blackfan Anemia Registry: clinical data and ribosomal protein mutations update","volume":"48","author":"Pospisilova","year":"2012","journal-title":"Blood cells, Mol. Dis."},{"issue":"12","key":"10.1016\/j.ejmg.2017.10.017_bib61","doi-asserted-by":"crossref","first-page":"1813","DOI":"10.3324\/haematol.2012.062281","article-title":"High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay","volume":"97","author":"Quarello","year":"2012","journal-title":"Haematologica"},{"issue":"5","key":"10.1016\/j.ejmg.2017.10.017_bib62","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1111\/bjh.13880","article-title":"Ribosomal RNA analysis in the diagnosis of diamond-blackfan anaemia","volume":"172","author":"Quarello","year":"2016","journal-title":"Br. J. Haematol."},{"issue":"4","key":"10.1016\/j.ejmg.2017.10.017_bib63","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1046\/j.1365-2141.1999.01267.x","article-title":"Diamond-Blackfan anaemia in the Italian population","volume":"104","author":"Ramenghi","year":"1999","journal-title":"Br. J. Haematol."},{"issue":"6","key":"10.1016\/j.ejmg.2017.10.017_bib64","doi-asserted-by":"crossref","first-page":"835","DOI":"10.15252\/emmm.201303374","article-title":"Targeted gene therapy and cell reprogramming in Fanconi anemia","volume":"6","author":"Rio","year":"2014","journal-title":"EMBO Mol. Med."},{"issue":"11","key":"10.1016\/j.ejmg.2017.10.017_bib65","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1002\/ajh.21541","article-title":"Severe iron overload in Blackfan-Diamond anemia: a case-control study","volume":"84","author":"Roggero","year":"2009","journal-title":"Am. J. Hematol."},{"issue":"18","key":"10.1016\/j.ejmg.2017.10.017_bib66","doi-asserted-by":"crossref","first-page":"2784","DOI":"10.1182\/blood-2014-04-526301","article-title":"Marrow failure: a window into ribosome biology","volume":"124","author":"Ruggero","year":"2014","journal-title":"Blood"},{"issue":"4","key":"10.1016\/j.ejmg.2017.10.017_bib67","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1038\/nbt.2842","article-title":"CRISPR-Cas systems for editing, regulating and targeting genomes","volume":"32","author":"Sander","year":"2014","journal-title":"Nat. Biotechnol."},{"issue":"7","key":"10.1016\/j.ejmg.2017.10.017_bib68","doi-asserted-by":"crossref","first-page":"2439","DOI":"10.1172\/JCI63597","article-title":"Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia","volume":"122","author":"Sankaran","year":"2012","journal-title":"J. Clin. investigation"},{"issue":"3","key":"10.1016\/j.ejmg.2017.10.017_bib69","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.blre.2010.03.002","article-title":"Pathophysiology and management of inherited bone marrow failure syndromes","volume":"24","author":"Shimamura","year":"2010","journal-title":"Blood Rev."},{"issue":"8","key":"10.1016\/j.ejmg.2017.10.017_bib70","doi-asserted-by":"crossref","first-page":"1300","DOI":"10.3324\/haematol.2009.018119","article-title":"Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry","volume":"95","author":"Tamary","year":"2010","journal-title":"Haematologica"},{"issue":"8","key":"10.1016\/j.ejmg.2017.10.017_bib71","doi-asserted-by":"crossref","first-page":"1908","DOI":"10.1002\/ajmg.a.37094","article-title":"RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability","volume":"167A","author":"Thevenon","year":"2015","journal-title":"Am. J. Med. Genet. Part A"},{"issue":"19","key":"10.1016\/j.ejmg.2017.10.017_bib72","doi-asserted-by":"crossref","first-page":"3715","DOI":"10.1182\/blood-2010-02-251090","article-title":"How I treat Diamond-Blackfan anemia","volume":"116","author":"Vlachos","year":"2010","journal-title":"Blood"},{"issue":"6","key":"10.1016\/j.ejmg.2017.10.017_bib73","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1097\/00043426-200108000-00015","article-title":"The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia","volume":"23","author":"Vlachos","year":"2001","journal-title":"J. Pediatr. hematology\/oncology"},{"issue":"6","key":"10.1016\/j.ejmg.2017.10.017_bib74","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1111\/j.1365-2141.2008.07269.x","article-title":"Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference","volume":"142","author":"Vlachos","year":"2008","journal-title":"Br. J. Haematol."},{"issue":"16","key":"10.1016\/j.ejmg.2017.10.017_bib75","doi-asserted-by":"crossref","first-page":"3815","DOI":"10.1182\/blood-2011-08-375972","article-title":"Incidence of neoplasia in diamond blackfan anemia: a report from the diamond blackfan anemia registry","volume":"119","author":"Vlachos","year":"2012","journal-title":"Blood"},{"issue":"6","key":"10.1016\/j.ejmg.2017.10.017_bib76","doi-asserted-by":"crossref","first-page":"854","DOI":"10.1111\/bjh.13229","article-title":"Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia","volume":"168","author":"Wang","year":"2015","journal-title":"Br. J. Haematol."},{"issue":"4","key":"10.1016\/j.ejmg.2017.10.017_bib77","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1111\/bjh.14535","article-title":"The genomics of inherited bone marrow failure: from mechanism to the clinic","volume":"177","author":"Wegman-Ostrosky","year":"2017","journal-title":"Br. J. Haematol."},{"issue":"12","key":"10.1016\/j.ejmg.2017.10.017_bib79","first-page":"4294","article-title":"Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression","volume":"94","author":"Willig","year":"1999","journal-title":"Blood"},{"issue":"5","key":"10.1016\/j.ejmg.2017.10.017_bib80","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1203\/00006450-199911000-00011","volume":"46","author":"Willig","year":"1999","journal-title":"Pediatr. Res."},{"issue":"12","key":"10.1016\/j.ejmg.2017.10.017_bib81","doi-asserted-by":"crossref","first-page":"1155","DOI":"10.1002\/humu.22860","article-title":"A novel mutation in RPL10 (ribosomal protein L10) causes x-linked intellectual disability, cerebellar hypoplasia, and spondylo-epiphyseal dysplasia","volume":"36","author":"Zanni","year":"2015","journal-title":"Hum. Mutat."},{"issue":"21","key":"10.1016\/j.ejmg.2017.10.017_bib82","doi-asserted-by":"crossref","first-page":"5561","DOI":"10.1182\/blood-2010-12-328161","article-title":"Oxidase-deficient neutrophils from X-linked chronic granulomatous disease iPS cells: functional correction by zinc finger nuclease-mediated safe harbor targeting","volume":"117","author":"Zou","year":"2011","journal-title":"Blood"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721217305050?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721217305050?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:45:51Z","timestamp":1761709551000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721217305050"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,11]]},"references-count":83,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2018,11]]}},"alternative-id":["S1769721217305050"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2017.10.017","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2018,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2017.10.017","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 The Authors. Published by Elsevier Masson SAS.","name":"copyright","label":"Copyright"}]}}