Genetics

YearCitationPublication TypeAuthors
2019Neutropenia in glycogen storage disease Ib: Outcomes for patients treated with granulocyte colony-stimulating factor. Curr Opin Hematol. 2019;26(1):16-21. PMID: 30451720Journal ArticleDale DC, Bolyard AA, Marrero T, Kelley ML, Makaryan V, Tran E, Leung J, Boxer LA, Kishnani PS, Austin S, Wanner C, Ferrecchia IA, Khalaf D, Maze D, Kurtzberg J, Zeidler C, Welte K, Weinstein DA
2018Somatic mutations and clonal hematopoiesis in congenital neutropenia. Blood. 2018;131(4):408-416. PMID: 29092827. PMC5790127.Journal ArticleXia J, Miller C, Baty J, Ramesh A, Jotte MRM, Fulton RS, Vogel TP, Cooper MA, Walkovich KJ, Makaryan V, Bolyard AA, Dinauer MC, Wilson DB, Vlachos A, Myers KC, Rothbaum RJ, Bertuch AA, Dale DC, Shimamura A, Boxer LA, Link DC.
2018Extended genetic testing in SCN may identify mutations that inform therapy. (ASH Annual Meeting Abstracts). Blood 2018AbstractLink DC, Makaryan V, Spencer D, Xia J, Bolyard AA, Dale DC.
2017Intermittent, persistent or cyclic neutropenia in Barth syndrome: characteristics, risks and management. Orphanet J Rare Dis. 2017 (submitted)Journal ArticleSteward CG, Groves SJ, Spence CT, Maisenbacher MK, Versluys B, Newbury- Ecob R, Ozsahin H, Hamilton L, Damin MK, Bowen VM, McCurdy KR, Apostu R, Mackey MC, Bolyard AA, Dale DC.
2017Elastase inhibitors as potential therapies for ELANE- associated neutropenia. J Leukoc Biol.
2017;102(4):1143-1151. PMCID: PMC5597518		Journal ArticleMakaryan V, Kelley MK, Fletcher B, Bolyard AA, Aprikyan A, Dale, DC.
2017 Long-term outcomes for G-CSF treatment of patients with glycogen-storage disease type 1b. (ASH Annual Meeting Abstracts). Blood. 2017; 130:996AbstractDale DC, Bolyard AA, Marrero T, Weinstein D, Zeidler C, Welte K.
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.
2016Incidence, characteristics and management of neutropenia in Barth syndrome. Barth Syndrome Foundation Meeting Abstracts, July 2016.AbstractSteward, CG, Groves SJ, Bolyard AA, Dale, DC.
2016Optimization of CSF3R mutation detection in severe congenital neutropenia and cyclic neutropenia patients for routine diagnostics using next generation sequencing. Blood. 2016;128:3685;AbstractKlimiankou M, Zeidler C, Mellor-Heineke S, etal.
2016ELANE mutation C223ter predisposes patients with severe congenital neutropenia to acute myeloid leukemia. (European Hematology Association [EHA] Meeting Abstracts). Haematologica. 2016;101(s1): 679,Abstract PB1661.AbstractDale D, Bolyard AA, Kelley M, Makaryan V, Boxer L, Bonilla MA, Cavieres M, Tan P, Firkin F.
2016Termination and frameshift mutations in ELANE are associated with adverse outcomes in patients with severe chronic neutropenia. (ASH Annual Meeting Abstracts). Blood. 2016;128:1326AbstractDale DC, Makaryan V, Kelley ML, Bolyard AA, Boxer L, Newburger P, Bonilla MA, Klimiankou M, Skokowa J, Zeidler C, Welte K.
2016ELANE mutant-specific activation of different UPR pathways in congenital neutropenia. Br J Haematol. 2016;172:219- 27. PMID: 26567890;Journal ArticleNustede R, Klimiankou M, Klimenkova O, etal.
2016Exome sequencing based diagnostics for severe congenital neutropenia. Association of Molecular Pathology (AMP) 2016 Annual Meeting. J. Mol Diagn. 2016;18:962, abstract H45AbstractDuncavage E, Qualls D, Cottrell C, Heusel J, Corliss M, Pfeifer J, Dale D, Link D.
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.
2016Association between absolute neutrophil count and variation at TCIRG1: the NHLBI Exome Sequencing Project. Genet Epidemiol. 2016;40:470-474. PMCID: PMC5079157Journal ArticleRosenthal EA, Makaryan V, Burt AA, Crosslin DR, Kim DS, Smith JD, Nickerson DA, Reiner AP, Rich SS, Jackson RD, Ganesh SK, Polfus L, Qi L, Dale DC, University of Washington Center for Mendelian Genomics, Jarvik GP.
2016TCIRG1 Mutations as a cause for chronic neutropenia. (ASH Annual Meeting Abstracts). Blood. 2016; 128:2511AbstractMakaryan V, Fletcher B, Kelley ML, Bolyard AA, Duncavage E, Qualls D, Link DC, Dale DC.
2015Barth Syndrome: an under-recognized cause of chronic neutropenia. (ASH Annual Meeting Abstracts). Blood. 2015;126:2195.AbstractSteward CG, Groves SJ, Taylor C, Maisenbacher MK, Versluys B, Newbury- Ecob R, Ozsahin H, Hamilton L, Damin MK, Bowen VM, McCurdy KR, Mackey MC, Bolyard AA, Dale DC.
2015The diversity of mutations and clinical outcomes for ELANE associated neutropenia. Curr Op Hematol. 2015;22:3-11. PMCID: PMC4380169Journal ArticleMakaryan V, Zeidler C, Bolyard AA, Skokowa J, Rodger E, Kelley ML, Boxer LA, Bonilla MA, Newburger PE, Shimamura A, Zhu B, Rosenberg PS, Link DC, Welte K, Dale DC.
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.
2014TCIRG1 associated congenital neutropenia. European Hematology Association (EHA) Annual Meeting Abstracts. June 2014.AbstractMakaryan V, Rosenthal E, Bolyard AA, Kelley ML, Chi E, Jarvik GP, Dale DC.
2014TCIRG1 associated congenital neutropenia. Hum Mutat. 2014;35(7):824-7. PMCID: PMC4055522Journal ArticleMakaryan V, Rosenthal EA, Bolyard AA, Kelley ML, Below JE, Bamshad MJ, Bofferding KM, Smith JD, Buckingham K, Boxer LA, Skokowa J, Welte K, Nickerson DA, Jarvik GP, Dale DC, for the UW Center for Mendelian Genomics.
2013 Barth syndrome and neutropenia. (ASH Annual Meeting Abstracts). Blood. 2013;122:3465.AbstractDale DC, Bolyard AA, Marrero T, Bonilla MA, Phan L, Steward CG.
2013Natural history of Barth syndrome: a national cohort study of 22 patients. Orphanet J Rare Dis. 2013;8:70. PMCID: PMC3656783.Journal ArticleRigaud C, Lebre AS, Touraine R, Beaupain B, Ottolenghi C, Chabli A, Ansquer H, Ozsahin H, Di Filippo S, De Lonlay P, Borm B, Rivier F, Vaillant MC, Mathieu-Dramard M, Goldenberg A, Viot G, Charron P, Rio M, Bonnet D, Donadieu J.
2013 Neutropenia in glycogen storage disease 1b (GSD1b). Blood (ASH Annual Meeting Abstracts) 2013;122;2265.AbstractDale DC, Bolyard AA, Marrero T, Kelley ML, Phan L, Boxer LA, Kishnani PS, Kurtzberg J, Weinstein D.
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.
2013TCIRG1 associated congenital neutropenia. Blood (ASH Annual Meeting Abstracts) 2013;122:440.AbstractMakaryan V, Rosenthal E, Bolyard AA, Kelley ML, Below J, Bamshad M, Bofferding KM, Smith JD, Buckingham K, Boxer LA, Skokowa J, Welte K, Nickerson DA, Jarvik GP, Dale DC, for the UW Center for Mendelian Genomics.
2013Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopenia. J Clin Immunol.
2013;33:1150-5. PMID: 23943155.		Journal ArticleBoonyawat B, Dhanraj S, al Abbas F, Zlateska B, Gruenbaum E, Roifman CM, Steele L, Meyn S, Blanchette V, Scherer S, Swierczek S, Prchal J, Zhu Q, Torgerson TR, Ochs HD, Dror Y.
2012The cellular and molecular mechanisms of neutropenia in Barth syndrome. Eur J Haematol.
2012;88:195-209. Epub 2011 Dec 4. PMCID: PMC4445723. PMID: 22023389.		Journal ArticleMakaryan V, Kulik W, Vaz F, Allen C, Dror Y, Dale DC, Aprikyan AA.
2012For the Severe Chronic Neutropenia International Registry (SCNIR). Clinical outcomes for patients with severe chronic neutropenia due to mutations in the gene for neutrophil elastase, ELANE . (ASH Annual Meeting Abstracts). Blood.
2012;120:3275.		AbstractMakaryan V, Zeidler C, Bolyard AA, Skokowa J, Kelley ML, Boxer LA, Bonilla MA, Newburger P, Shimamura A, Welte K, Dale DC
2012For the Severe Chronic Neutropenia International Registry (SCNIR). Clinical outcomes for patients with neutropenia attributable to mutations in the gene for neutrophil elastase, ELANE. Blood 2012 120:3275AbstractMakaryan V, Zeidler C, Boylyard AA, Skokowa J, Rodger E, Kelley ML, Boxer LA, Bonilla MA, Newburger PE, Shimamura A, Zhu B, Rosenberg PS, Link DC, f
2012Extended molecular and clinical phenotype of human G6PC3 deficiency. Journal of Pediatrics 160:679-683, 2012. PMCID: PMC3718741.Journal ArticleBoztug K, Rosenberg PS, Böhm M, Moulton T, Curtin J, Rezaei N, Corns J, Innis J, Avci Z, Tran HC, Pellier I, Pedini A, Fruge R, Parvaneh N, Darbyshire P, Buchanan GR, Alter BP, Boxer LA, Donadieu J, Welte K, Klein C
2012Extended spectrum of human glucose-6- phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia. J Pediatr 2012.160: 679-683 PMID: 22050868.Journal ArticleBoztug K, Rosenberg PS, Dorda M, Banka S, Moulton T, Curtin J, Rezaei N, Corns J, Innis JW, Avci Z, Tran HC, Pellier I, Pierani P, Fruge R, Parvaneh N, Mamishi S, Mody R, Darbyshire P, Motwani J, Murray J, Buchanan GR, Newman WG, Alter BP, Boxer LA, Donadieu J, Welte K, Klein C.
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.
2011The cellular and molecular mechanisms of neutropenia in Barth syndrome. Blood (ASH Annual Meeting Abstracts). 2011;118:1105.AbstractAprikyan AA, Makaryan V, Kulik W, Vaz F, Allen C, Dror Y, Dale DC.
2011Cellular and molecular mechanisms of neutropenia and possibly cardiomyopathy in Barth syndrome. American Heart Association. Scientific Sessions 2011 Nov.AbstractMakaryan V, Kulik W, Vaz Frederic, Allen C, Dror Y, Dale DC, Aprikyan AA.
2011ELANE Mutations in cyclic and congenital neutropenia: genotype- phenotype and structure-function relationships. (ASH Annual Meeting Abstracts). Blood. 2011;118:3398.AbstractDale DC, Makaryan V, Bolyard AA, Rodger ER, Kelley ML, Marrero TM, Phan L, Aprikyan AA, Bonilla MA, Newburger PE, Boxer LA, Link D.
2011 Neutropenia in glycogen storage disease 1b (GSD1b). (ASH Annual Meeting Abstracts). Blood. 2011;118:4791.AbstractDale DC, Bolyard AA, Marrero TM, Phan L, Boxer LA, Kishnani PS, Kurtzberg J, Weinstein DA.
2011Glycogen storage disease; neutropenia and enterocolitis in GSD 1b. Am J Med Genet. 2011. (submitted); PMC Journal - In process.Journal ArticleDale, David C
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.
2010For the Severe Chronic Neutropenia International Registry. Barth syndrome and severe chronic neutropenia. (ASH Annual Meeting Abstracts). Blood. 2010;116:3787.AbstractCollins S, Bolyard AA, Marrero, TM, Phan L, Dale DC
2010Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for phenotype determination by modifying genes. Pediatr Blood Cancer. 2010 Aug;55(2):314-317. doi: 10.1002/pbc.22537. PubMed PMID:
20582973; PubMed Central PMCID: PMC2913300.		Journal ArticleNewburger PE, Pindyck TN, Zhu Z, Bolyard AA, Aprikyan AA, Dale DC, Smith GD, Boxer LA.
2010Digenic mutations in severe congenital neutropenia. Haematologica. 2010;95(7):1207-10. PMID:
20220065. PMCID: PMC2895047.		Journal ArticleGermeshausen M, Zeidler C, Stuhrmann M, Lanciotti M, Ballmaier M, Welte K.
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.
2009Loss of Tafazzin (TAZ) function and accelerated apoptosis of human bone marrow stem and myeloid progenitors in Barth syndrome. (ASH Annual Meeting Abstracts). Blood.
2009;114:549.		AbstractMakaryan V, Dror Y, Aprikyan AA.
2009RAS and CSF3R mutations in severe congenital neutropenia. Blood. 2009 Oct 15;114(16):3504-5. PMID: 19833857.Journal ArticleGermeshausen M, Kratz CP, Ballmaier M, Welte K.
2009A novel syndrome with congenital neutropenia caused by mutations in G6PC3. N Engl J Med. 2009; 360:32-43. PMCID: PMC2778311.Journal ArticleBoztug K, Appaswamy G, Ashikov A, Schäffer AA, Salzer U, Diestelhorst J, Germeshausen M, Brandes G, Lee-Gosler J, Noyan F, Gatzke AK, Minkov M, Greil J, Kratz C, Petropoulou T, Pellier I, Bellane- Chantelot C, Rezaei N, Mönckemöller K, Irani-Hakimeh N, Bakker H, Gerardy- Schahn R, Zeidler C, Grimbacher B, Welte K, Klein C.
2009Genetic and molecular diagnosis of severe congenital neutropenia. Curr Opin Hematol. 2009 Jan;16(1):9-13. doi: 10.1097/MOH.0b013e32831952de.
Review. PMID: 19057199; PMCID: PMC2720320.		ReviewWard AC, Dale DC.
2009Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia. Br J Haematol.
2009 Nov;147(4):535-42. doi:
10.1111/j.1365-2141.2009.07888.x. Epub
2009 Sep 22. PMID: 19775295 PMCID: PMC2783282.		Journal ArticleXia J, Bolyard AA, Rodger E, Stein S, Aprikyan AA, Dale DC, Link DC.
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.