Shwachman-Diamond Syndrome

YearCitationPublication TypeAuthors
2017Germline and somatic genetic characterization of Shwachman-Diamond syndrome. (American Society of Pediatric Hematology / Oncology [ASPHO] Annual Meeting Abstracts). Pediatr Blood Cancer. 2017: 64(S1): 206AbstractMyers KC, Nelson A, Sheehan B, Malsch M, Furutani E, Gloude N, Sandella R, Levesque A, Towers G, Bolyard AA, Moore J, Loveless S, Butts A, Davies SM, Keel S, Hanna R, Fleming M, Lorsbach R, Dale DC, Shimamura A.
2016North American Shwachman-Diamond syndrome registry: genetically undefined Shwachman-Diamond syndrome. 8th International Congress on Shwachman-Diamond Syndrome Abstracts, April 2016.AbstractMyers KC, Bolyard AA, Leung J, Moore J, Loveless S, Mount L, Harris RE, Davies SM, Keel S, Dale DC, Shimamura A.
2016Germline and somatic genetic characterization of Shwachman-Diamond syndrome. (ASH Annual Meeting Abstracts). Blood. 2016;128(22):2681.
DOI: https://doi.org/10.1182/blood.V128.22.2681.2681		AbstractMyers KC, Nelson A, Sheehan B, Malsch M, Towers G, Bolyard AA, Moore J, Loveless S, Mount L, Davies SM, Keel S, Hanna R, Fleming M, Dale DC, Shimamura A.
2015The North American Shwachman-Diamond syndrome registry: 5 years of follow-up. (American Society of Pediatric Hematology/Oncology [ASPHO] Annual Meeting Abstracts). Pediatr Blood Cancer. 2015;S26:#4020AbstractMyers K, Bolyard AA, Wong T, Biggins C, Moore J, Loveless S, Mount L, Harris R, Davives S, Keel S, Dale D, Shimamura A.
2015North American Shwachman-Diamond Syndrome Registry: Genetically undefined Shwachman- Diamond Syndrome. (ASH Annual Meeting Abstracts). Blood. 2015; 126:3614 .AbstractMyers KC, Bolyard AA, Leung J, Moore J, Loveless S, Mount L, Harris RE, Davies SM, Keel S, Dale DC, Shimamura A.
2014Shwachman-Diamond syndrome in adults. (American Society of Pediatric Hematology/Oncology 27th Annual Meeting). May 2014.AbstractMyers KC, Bolyard AA, Jones A, Otto B, Dobbins N, Moore J, Harris RE, Davies SM, Dale DC, and Shimamura A.
2014 Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman- Diamond Syndrome Registry. J Pediatr. 2014;164:866-70. PMCID: PMC4077327Journal ArticleMyers KC, Bolyard AA, Otto B, Wong TE, Jones AT, Harris RE, Davies SM, Dale DC, Shimamura A.
2014Shwachman-Diamond Syndrome in Adults. Pediatric Blood & Cancer.
2014;61:S9-S9.		AbstractMyers, Kasiani, Bolyard, Audrey Anna, Jones, Amanda, Otto, Barbara, Dobbins, Nicholas, Moore, Joan, Harris, Richard, Davies, Stella, Dale, David, Shimamura, Akiko.
2013Molecular characteristics of a pancreatic adenocarcinoma associated with Shwachman-Diamond syndrome. Pediatric Blood and Cancer. May 2013;60(5):754-60. PMID: 23303473.Journal ArticleDhanraj S, Manji A, Pinto D, Scherer SW, Favre H, Mignon L, Chetty R, Wei AC, Dror Y.
2013Cardiomyopathies and congenital heart diseases in Shwachman-Diamond syndrome: A national survey. Int J Cardiol. 2013;167:1048-50. PMID: 23164595.Journal ArticleHauet Q, Bequpain B, Micheau M, Blayo M, Gandemer V, Gottrand F, Blin N, Fouyssac F, Lethor JP, Bellanne-Chantelot C, Bonnet D, Donadieu J.
2013Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry. J Pediatr. 2014 Apr;164(4):866-70. Epub 2013 Dec 31. PMID: 24388329 PMCID: PMC4077327Journal ArticleMyers K, Bolyard AA, Otto B, Wong T, Jones A, Dobbins N, Moore J, Harris R, Davies S, Dale D, Shimamura A.
2013Adults with Shwachman-Diamond syndrome. (7th International Congress on Shwachman- Diamond Syndrome) Nov 2013.AbstractMyers KC, Bolyard AA, Jones A, Otto B, Dobbins N, Moore J, Harris RE, Davies SM, Dale DC, Shimamura A.
2013Shwachman- Diamond Syndrome in Adults. (ASH Annual Meeting Abstracts) Dec 2013 (submitted)AbstractMyers KC, Bolyard AA, Jones A, Otto B, Dobbins N, Moore J, Harris RE, Davies SM, Dale DC, Shimamura A.
2013 Presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry. (American Society of Pediatric Hematology/Oncology 26th Annual Meeting). April 2013.AbstractMyers KC, Bolyard AA, Otto B, Dobbins N, Jones A, Wong TE, Harris RE, Davies SM, Dale DC, Shimamura, A.
2013Update from the North-American Shwachman-Diamond syndrome registry: variable clinical presentation of Shwachman-Diamond syndrome. 7th International Congress on Shwachman-Diamond Syndrome). Nov 2013.AbstractMyers KC, Bolyard AA, Otto B, Wong TE, Jones A, Dobbins N, Moore J, Harris RE, Davies SM, Dale DC, Shimamura A.
2013Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update. Hematol Oncol Clin North Am. 2013 Feb;27(1):117-28. PMID: 23351992Journal ArticleMyers KC, Davies SM, Shimamura A.
2013Shwachman-Diamond Syndrome. In Clinical Decision Support: Hematology, Benz EJ, Berliner, N, Brodsky R, LaCasce A, Moake J , Eds. 2013. Decision Support in Medicine, LLC. Wilmington, DE. https://www.clinicaladvisor.com/hematology/ shwachman-diamond- syndrome/article/598066/Journal ArticleShimamura, A
2013Pluripotent stem cell models of Shwachman-Diamond syndrome reveal a common mechanism for pancreatic and hematopoietic dysfunction. Cell Stem Cell. 2013 June 6; 12(6): 727–736. PMID: 23602541 PMCID: PMC3755012.Journal ArticleTulpule A, Kelley JM, Lensch MW, McPherson J, Park IH, Hartung O, Nakamura T, Schlaeger TM, Shimamura A, Daley GQ.
2012Impaired Ribosomal Subunit Association in Shwachman-Diamond Syndrome. Blood. 2012 December 20;120(26): 5143–5152. PMID: 23115272. PMCID: PMC3537309Journal ArticleBurwick, N, Coats, SA, Nakamura, T, and Shimamura, A.
2012 Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome. Haematologica 2012:97: 1312-1319 PMCID: PMC3436231.Journal ArticleDonadieu J, Fenneteau O, Beaupain B, Beaufils S, Bellanger F, Mahlaoui N, Lambilliotte A, Aladjidi N, Bertrand Y, Mialou V, Perot C, Michel G, Fouyssac F, Paillard C, Gandemer V, Boutard P, Schmitz J, Morali A, Leblanc T, Bellanne-Chantelot C.
2012 Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman Diamond syndrome registry. (ASH Annual Meeting Abstracts). Blood. 2012;120:2367.AbstractMyers K, Bolyard AA, Otto B, Dobbins N, Jones A, Wong T, Harris R, Davies S, Dale D, Shimamura A.
2011SBDS and eIF6 modulate ribosome subunit joining in Shwachman-Diamond syndrome. Blood (ASH Annual Meeting Abstracts). 2011;118:3438.AbstractBurwick N, Coats S, Shimamura A.
2011Non-Diamond-Blackfan anemia disorders of ribosome function: Shwachman-Diamond syndrome and 5q- syndrome. Semin Hematol. 2011 48 (2): 136-143. PMID: 21435510. PMCID: PMC3072806.Journal ArticleBurwick N, Shimamura A, Liu JM
2011(2011) Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome. Ann N Y Acad Sci 2011, 1242: 40-55 PMID: 22191555.Journal ArticleDror Y, Donadieu J, Koglmeier J, Dodge J, Toiviainen-Salo S, Makitie O, Kerr E, Zeidler C, Shimamura A, Shah N, Cipolli M, Kuijpers T, Durie P, Rommens J, Siderius L, Liu JM
2011Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome. Genes Dev. 2011 May 1;25(9):917-29. PMID: 21536732; PMCID: PMC3084026Journal ArticleFinch AJ, Hilcenko C, Basse N, Drynan LF, Goyenechea B, Menne TF, González Fernández A, Simpson P, D'Santos CS, Arends MJ, Donadieu J, Bellanné-Chantelot C, Costanzo M, Boone C, McKenzie AN, Freund SM, Warren AJ.
2011Clinical features of Shwachman-Diamond syndrome patients lacking biallelic SBDS mutation. (ASH Annual Meeting Abstracts). Blood. 2011;118:4367.AbstractShimamura A, Bolyard AA, Chakrabarti S, Bond JM, Cole T, Moore J, Boxer LA, Newburger PE, Alter BP, Harris RE, Davies SM, Dale DC.
2011The ribosome- related protein, SBDS, is critical for normal erythropoiesis. Blood,2011:8;118(24):6407- 17. PMID: 21963601Journal ArticleSen S, Wang H, Nghiem CL, Zhou K, Yau J, Tailor C, Irwin M, Dror Y.
2010SBDS protein expression patterns in bone marrow. Pediatr Blood Cancer. 2010 Sep;55(3):546-9. (*Corresponding author) PMID: 20658628. PMCID: PMC2913690.Journal ArticleWong, TE, Calicchio, ML, Fleming, MD, Shimamura, A*, and Harris, MH.
2010SBDS- deficiency results in deregulation of reactive oxygen species leading to increased cell death and decreased cell growth. Pediatr Blood Cancer. 2010;55:1138-44. PMID 20979173.Journal ArticleAmbekar C, Das B, Yeger H, Dror Y.
2010Comparative analysis of Shwachman-Diamond Syndrome to other Inherited Marrow Failure Syndromes. Clinic Genet 2010. PMID: 20569259.Journal ArticleHashmi SK, Klaassen R, Fernandez CV, Yanofsky R, Shereck E, Champagne J, Silva M, Lipton JH, Brossard J, Samson Y, Abish S, Steele M, Ali K, Dower N, Athale U, Jardine L, Dror Y.
2010Clinical spectrum and molecular pathophysiology of Shwachman-Diamond syndrome. Curr Opin Hematol. 2010 Nov 30. [Epub ahead of print] PMID: 21124213. PMCID: PMC3485416Journal ArticleHuang JN and Shimamura A.
2009SBDS-deficiency results in specific hypersensitivity to Fas stimulation and accumulation of Fas at the plasma membrane. Apoptosis 2009;14:77-89. PMID: 19009351.Journal ArticleWatanabe K, Ambekar C, Schimmer A, Dror Y.
2009Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment. Hematol Oncol Clin N Am. 2009;23:233-248. PMID: 19327581. PMCID: PMC2754297.Journal ArticleBurroughs L, Woolfrey A, Shimamura A.
2009Shwachman-Diamond Syndrome. In: Lang F, ed. Encyclopedic Reference of Molecular Mechanisms of  Disease . Berlin Heidelberg: Springer- Verlag;2009:1931-32.Book ChapterRawls AS, Link DC.
2009Bone marrow cells from patients with Shwachman-Diamond Syndrome abnormally express genes involved in ribosome biogenesis and RNA processing. Br J Haematol. 2009;145:806-15. PMID: 19438500.Journal ArticleRujkijyanont, P, Adams S, Beyene J, Dror Y.
2009Shwachman-Diamond syndrome: development of a North American registry to assess long-term outcomes, risk of leukemia and other complications. (ASH Annual Meeting Abstracts). Blood. 2009;114:1363.AbstractShimamura A, Bolyard AA, Marrero T, Alvendia M, Ellis L, Rommens JM, Harris RE, Durie P, Dror Y, Dale DC.