| Year | Citation | Publication Type | Authors |
|---|---|---|---|
| 2020 | Neutropenia Is an Underrecognized Finding in Pediatric Primary Immunodeficiency Diseases: An Analysis of the United States Immunodeficiency Network Registry. J Ped Hem Onc. 2020; PMID: 32049770 | Journal Article | Michniacki TF, Sturza J, Connelly JA, Merz LE, Marsh R, Dale D, Garabedian E, Walkovich K, |
| 2019 | Severe Chronic Neutropenia in the Large Granular Lymphocyte Syndrome: Outcomes in Response to Granulocyte Colony Stimulating Factor (G-CSF) and Immunosuppressive Therapies. (ASH Annual Meeting Abstracts). Blood Annual Meeting Abstracts. 2019 | Abstract | Dale DC, Shannon JA, Bolyard AA, Connelly J, Link DC, Bonilla MA, Newburger PE. |
| 2019 | CRISPR/Cas9 mediated ELANE knockout enables neutrophilic maturation of HSPCs and iPSCs of severe congenital neutropenia patients. (European Hematology Association [EHA] Meeting Abstracts). 2019 | Abstract | Nasri M, Ritter M, Mir P, Dannenmann B, Amend D, Makaryan V, Xu Y, Zeidler C, Dale DC, Klimiankou M, Welte K, Skokowa J. |
| 2019 | Quality of life and patient reported outcomes in severe chronic neutropenia. (ASH Annual Meeting Abstracts). Blood Annual Meeting Abstracts. 2019 | Abstract | Michniacki TF, Merz LE, McCaffrey H, Connelly JA, Dale D, Bolyard AA, Walkovich K. |
| 2019 | Neutropenia in glycogen storage disease Ib: Outcomes for patients treated with granulocyte colony-stimulating factor. Curr Opin Hematol. 2019;26(1):16-21. PMID: 30451720 | Journal Article | Dale 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 |
| 2019 | Family Studies of Whim Syndrome. (ASH Annual Meeting Abstracts). Annual Meeting Abstracts. Blood 2019 | Abstract | Dale DC, Dick E, Kelley ML, Makaryan V, Connelly J, Bolyard AA. |
| 2018 | Somatic mutations and clonal hematopoiesis in congenital neutropenia. Blood. 2018;131(4):408-416. PMID: 29092827. PMC5790127. | Journal Article | Xia 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. |
| 2018 | Phase 2 study of X4P- 001: A targeted oral therapy for patients with WHIM syndrome. (European Hematology Association [EHA] Meeting Abstracts). Haematologica. (in press) | Abstract | Dale DC, Firkin F, Bolyard AA, Dick E, Kelley ML, Makaryan V, Niland K, Ebrahim T, Parasuraman S. |
| 2018 | Myelodysplasia, hematological malignancies and other cancers in patients with severe chronic neutropenia. (ASH Annual Meeting Abstracts). Blood 2018 | Abstract | Dale DC, Bolyard AA, Alter B, Bonilla MA, Connelly J, Link D, Rosenberg P, Shimamura A, Walkovich KJ, Newburger P. |
| 2018 | Extended genetic testing in SCN may identify mutations that inform therapy. (ASH Annual Meeting Abstracts). Blood 2018 | Abstract | Link DC, Makaryan V, Spencer D, Xia J, Bolyard AA, Dale DC. |
| 2018 | Editorial: myeloid biology issue 2018. Curr Opin Hematol. 2018;25(1):1-2 (Editorial). PMID: 29049086 | Editorial | Dale, David C |
| 2018 | Cyclic thrombocytopenia with statistically significant neutrophil oscillations. Clin Case Rep. 2018;6(7):1347-52. PMID: 29988661. PMCID: PMC6028424. | Journal Article | Langlois GP, Arnold DM, Potts J, Leber B, Dale DC, Mackey MC. |
| 2018 | CRISPR/Cas9 knock-in HL60 cells closely simulate cellular and functional abnormalities of ELANE associated Neutropenia; Phenotype rescue with MK- 0339 Neutrophil Elastase inhibitor. (ASH Annual Meeting Abstracts). Blood 2018 | Abstract | Makaryan V, Fletcher B, Kelley ML, Nasri M, Skokowa J, Welte K, MD2, Dale DC. |
| 2018 | A systematic literature review of the efficacy, effectiveness, and safety of filgrastim. Support Care Cancer. 2018 Jan;26(1):7-20. PMID: 28939926. PMCID: PMC5827957. | Journal Article | Dale DC, Crawford J, Klippel Z, Reiner M, Osslund T, Fan E, Morrow PK, Allcott K, Lyman GH. |
| 2018 | A novel device suitable for home monitoring of white blood cell and neutrophil counts. (ASH Annual Meeting Abstracts). Blood 2018 | Abstract | Dale DC, Kelley ML, Navarro-De La Vega M, Parthasarathy D, Bodapati D, Tandon T. |
| 2018 | Determination of phase 3 Dose for X4P-001 in patients with WHIM syndrome. (ASH Annual Meeting Abstracts). Blood 2018 | Abstract | Dale D, Firkin F, Bolyard A, Dick E, Hartmann S, Brown K, Ebrahim T, Gorelick KJ, Parasuraman S. |
| 2017 | X4P-001: a novel molecularly-targeted oral therapy for WHIM syndrome. (ASH Annual Meeting Abstracts). Blood 2017; 130:995 | Abstract | Dale DC, Bolyard AA, Dick E, Kelley ML, Makaryan V, Johnson R, Gan L, Parasuraman S. |
| 2017 | The effect of the MK-0339 neutrophil elastase inhibitor on proliferation and maturation of iPSC derived from the patients with ELANE, TCIRG1 and CXCR4 associated neutropenia. (ASH Annual Meeting Abstracts). Blood. 2017;130:545 | Abstract | Makaryan V, Fletcher B, Kelley ML, Dale DC. |
| 2017 | Severe congenital neutropenias. Nat Rev Dis Primers. 2017;8(3):17032. PMCID: PMC5821468 | Journal Article | Skokowa J, Dale DC, Touw IP, Zeidler C, Welte K. |
| 2017 | Long-term outcomes for G-CSF treatment of patients with glycogen-storage disease type 1b. (ASH Annual Meeting Abstracts). Blood. 2017; 130:996 | Abstract | Dale DC, Bolyard AA, Marrero T, Weinstein D, Zeidler C, Welte K. |
| 2017 | Long-term effects of G-CSF therapy in cyclic neutropenia. N Engl J Med. 2017;377(23):1-2. (Letter to the Editor) PMID: 29211670. PMCID: PMC5777346. | Letter to the Editor | Dale DC, Bolyard AA, Marrero T, Bonilla MA, Link DC, Newburger P, Shimamura A, Boxer LA, C Spiekerman. |
| 2017 | Intermittent, persistent or cyclic neutropenia in Barth syndrome: characteristics, risks and management. Orphanet J Rare Dis. 2017 (submitted) | Journal Article | Steward 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. |
| 2017 | How I manage children with neutropenia. Br J Haematol. 2017;178:351- 363. PMID: 28419427 | Review | Dale, David C |
| 2017 | Germline and somatic genetic characterization of Shwachman-Diamond syndrome. (American Society of Pediatric Hematology / Oncology [ASPHO] Annual Meeting Abstracts). Pediatr Blood Cancer. 2017: 64(S1):206 | Abstract | Myers 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. |
| 2017 | Elastase inhibitors as potential therapies for ELANE- associated neutropenia. J Leukoc Biol. 2017;102(4):1143-1151. PMCID: PMC5597518 | Journal Article | Makaryan V, Kelley MK, Fletcher B, Bolyard AA, Aprikyan A, Dale, DC. |
| 2017 | Editorial for myeloid biology 2017. Curr Opin Hematol. 2017;24:1-2. (Editorial). PMID: 7820737 | Editorial | Dale, David C |
| 2017 | Cyclic neutropenia congenital and idiopathic neutropenia. (ASH Annual Meeting Abstracts). Blood. 2017; 130:2275 | Abstract | Dale DC, Bolyard AA, Leung J, Tran E, Marrero T, Newburger P. |
| 2017 | An update on the diagnosis and treatment of chronic idiopathic neutropenia. Curr Opin Hematol. 2017;24(1):46-53. PMID: 27841775; NIHMS 853991; PMCID: PMC5380401 | Journal Article | Dale DC, Bolyard AAB. |
| 2016 | Two cases of cyclic neutropenia with acquired CSF3R mutations, with 1 developing AML. Blood. 2016;127:2638-41. PMID: 27030388; | Journal Article | Klimiankou M, Mellor-Heineke S, Klimenkova O, etal. |
| 2016 | The effects of the neutrophil elastase inhibitors MK0339 and sivelestat on the survival, proliferation and maturation of iPSC and HL60 cells expressing mutant neutrophil elastase. (ASH Annual Meeting Abstracts). Blood. 2016;128:406 | Abstract | Makaryan V, Kelley ML, Fletcher B, Dale DC. |
| 2016 | Termination and frameshift mutations in ELANE are associated with adverse outcomes in patients with severe chronic neutropenia. (ASH Annual Meeting Abstracts). Blood. 2016;128:1326 | Abstract | Dale DC, Makaryan V, Kelley ML, Bolyard AA, Boxer L, Newburger P, Bonilla MA, Klimiankou M, Skokowa J, Zeidler C, Welte K. |
| 2016 | TCIRG1 Mutations as a cause for chronic neutropenia. (ASH Annual Meeting Abstracts). Blood. 2016; 128:2511 | Abstract | Makaryan V, Fletcher B, Kelley ML, Bolyard AA, Duncavage E, Qualls D, Link DC, Dale DC. |
| 2016 | Pegfilgrastim for the treatment of severe chronic neutropenia. (ASH Annual Meeting Abstracts). Blood. 2016; 128:1332. | Abstract | Bolyard AA, Marrero T, Boxer LA, Newburger P, Bonilla MA, Dale DC. |
| 2016 | Optimization of CSF3R mutation detection in severe congenital neutropenia and cyclic neutropenia patients for routine diagnostics using next generation sequencing. Blood. 2016;128:3685; | Abstract | Klimiankou M, Zeidler C, Mellor-Heineke S, etal. |
| 2016 | North American Shwachman-Diamond syndrome registry: genetically undefined Shwachman-Diamond syndrome. 8th International Congress on Shwachman-Diamond Syndrome Abstracts, April 2016. | Abstract | Myers KC, Bolyard AA, Leung J, Moore J, Loveless S, Mount L, Harris RE, Davies SM, Keel S, Dale DC, Shimamura A. |
| 2016 | Neutropenia and Neutrophilia. In: Kaushansky K, Lichtman MA, Prchal JT, Levi MM, Press OW, Burns LJ, Caligiuri M, eds. Williams Hematology. 9th ed. New York, NY: McGraw-Hill; 2016:991-1004. | Book Chapter | Dale DC, Welte K. |
| 2016 | Mutation burden in hematopoietic stem cells is not increased in congenital neutropenia. Blood. 2016;128:405. | Abstract | Xia J, Shimamura A, Myers KC, Boxer LA, Dale DC, Ramesh A, Jotte M, Link DC. |
| 2016 | Incidence, characteristics and management of neutropenia in Barth syndrome. Barth Syndrome Foundation Meeting Abstracts, July 2016. | Abstract | Steward, CG, Groves SJ, Bolyard AA, Dale, DC. |
| 2016 | Impaired DNA damage repair in severe congenital neutropenia patients. Blood. 2016;128:1334; | Abstract | Mir P, Klimiankou M, Dannenmann B, etal. |
| 2016 | How I diagnose and treat neutropenia. (Review) Curr Op Hematol. 2016;23:1-4. PMCID: PMC4668211 | Review | Dale, David C |
| 2016 | Germline 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 | Abstract | Myers 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. |
| 2016 | Exome sequencing based diagnostics for severe congenital neutropenia. Association of Molecular Pathology (AMP) 2016 Annual Meeting. J. Mol Diagn. 2016;18:962, abstract H45 | Abstract | Duncavage E, Qualls D, Cottrell C, Heusel J, Corliss M, Pfeifer J, Dale D, Link D. |
| 2016 | ELANE 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. | Abstract | Dale D, Bolyard AA, Kelley M, Makaryan V, Boxer L, Bonilla MA, Cavieres M, Tan P, Firkin F. |
| 2016 | ELANE mutant-specific activation of different UPR pathways in congenital neutropenia. Br J Haematol. 2016;172:219- 27. PMID: 26567890; | Journal Article | Nustede R, Klimiankou M, Klimenkova O, etal. |
| 2016 | Autoimmune and other acquired neutropenias. Hematology Am Soc Hematol Educ Program. 2016;2016:38-42. PMID: 27913460 | Journal Article | Newburger, Peter E |
| 2016 | Association between absolute neutrophil count and variation at TCIRG1: the NHLBI Exome Sequencing Project. Genet Epidemiol. 2016;40:470-474. PMCID: PMC5079157 | Journal Article | Rosenthal 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. |
| 2016 | Analysis of leukemogenic effects of RUNX1 & CSF3R mutations using congenital neutropenia (CN)/AML patient- derived induced pluripotent stem cells (IPSCS). Blood. 2016;128:404 | Abstract | Dannenmann B, Klimiankou M, Lindner C, etal. |
| 2015 | Use of granulocyte colony-stimulating factor during pregnancy in women with chronic neutropenia. Obstet Gynecol. 2015;125:197-203. PMCID: PMC4286310 | Journal Article | Boxer LA, Bolyard AA, Kelley ML, Marrero TM, Phan L, Bond, JA, Alter BP, Bonilla MA, Link D, Newburger PE, Rosenberg PS, Dale DC. |
| 2015 | The 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:#4020 | Abstract | Myers K, Bolyard AA, Wong T, Biggins C, Moore J, Loveless S, Mount L, Harris R, Davives S, Keel S, Dale D, Shimamura A. |
| 2015 | The effects of the CXCR2 antagonist, MK-7123, on bone marrow functions in healthy subjects. Cytokine. 2015;72:197-203. PMID: 25661195 | Journal Article | Hastrup N, Khalilieh S, Dale DC, Hanson LG, Magnusson P, Tzontcheva A, Tseng J, Huyck S, Rosenberg E, Krogsgaard K. |
| 2015 | The diversity of mutations and clinical outcomes for ELANE associated neutropenia. Curr Op Hematol. 2015;22:3-11. PMCID: PMC4380169 | Journal Article | Makaryan 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. |
| 2015 | North American Shwachman-Diamond Syndrome Registry: Genetically undefined Shwachman- Diamond Syndrome. (ASH Annual Meeting Abstracts). Blood. 2015;126:3614. | Abstract | Myers KC, Bolyard AA, Leung J, Moore J, Loveless S, Mount L, Harris RE, Davies SM, Keel S, Dale DC, Shimamura A. |
| 2015 | Neutropenia. In: Encyclopedia of Life Sciences. Chichester, England: John Wiley & Sons, Ltd.; Oct 15 2015. Available at: http://www.els.net/WileyCDA/ElsArticle/refId- a0002179.html | Journal Article | Dale, David C |
| 2015 | Long term outcomes for patients with cyclic neutropenia on treatment with granulocyte colony-stimulating factor (G-CSF). (ASH Annual Meeting Abstracts). Blood. 2015;126:996. | Abstract | Dale DC, Bolyard AA, Kelley ML, Makaryan V, Bonilla MA, Boxer LA, Mellor-Heineke S, Welte KH, Newburger PE, Zeidler C. |
| 2015 | Is there a role for anti-neutrophil antibody testing in predicting spontaneous resolution of neutropenia in young children? (ASH Annual Meeting Abstracts). Blood. 2015;126:2211. | Abstract | Boxer LA, Bolyard AA, Marrero TM, Tran EL, Bonilla MA, Newburger PE, Dale DC. |
| 2015 | Intersections of hematology, immunology, dermatology and infectious diseases. Curr Op Hematol. 2015;22:1-2. (Editorial) PMID: 25469835 | Editorial | Dale, David C |
| 2015 | Barth Syndrome: an under-recognized cause of chronic neutropenia. (ASH Annual Meeting Abstracts). Blood. 2015;126:2195. | Abstract | Steward 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. |
| 2015 | Application of spectral density/periodogram analysis to serial neutrophil counts to diagnose cyclic neutropenia. (ASH Annual Meeting Abstracts). Blood. 2015:126:4608 | Abstract | Dobbins NJ, Bolyard AA, Chang RT, Self J, Provencher Langlois G, Mackey MC, Dale DC. |
| 2014 | Understanding, treating and avoiding hematological disease: better medicine through mathematics? Bull Math Biol. 2014;76(9):2091-121. PMCID: PMC4362913 | Journal Article | Dale DC, Mackey M. |
| 2014 | Understanding neutropenia: The 20 year experience of the Severe Chronic Neutropenia International Registry. (ASH Annual Meeting Abstracts). Blood.2014;124:2730. | Abstract | Dale DC, Bolyard AA, Zeidler C, Marrero TM, Boxer LA, Newburger PE, Alter BP, Morrow PK, Bonilla MA, Dror Y, Firkin F, Kinsey S, Levine JE, Link DC, Reeves L, Rosenberg PS, Shimamura A, Welte K. |
| 2014 | Understanding neutropenia. Curr Op Hematol. 2014;21:1-2. (Editorial) PMID: 24275692 | Editorial | Dale, David C |
| 2014 | The association of mutations in RUNX1 and CSF3R with the development of leukemia in severe congenital neutropenia: a new pathway in leukemogenesis. Blood. 2014 Apr 3;123(14):2229-37. Epub 2014 Feb 12. | Journal Article | Skokowa J, Steinemann D, Zeidler C, Makaryan V, Beekman M, Klimiankou M, Ünelan S, Kandabarau S, Schnittger S, Kohlmann A, Valkhof MG, Hoogenboezem R, Göhring G, Schegelberger B, Stanulla M, Vandenberghe P, Donadieu J, Touw IP, Dale DC, Welte K. |
| 2014 | TCIRG1 associated congenital neutropenia. Hum Mutat. 2014;35(7):824-7. PMCID: PMC4055522 | Journal Article | Makaryan 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. |
| 2014 | TCIRG1 associated congenital neutropenia. European Hematology Association (EHA) Annual Meeting Abstracts. June 2014. | Abstract | Makaryan V, Rosenthal E, Bolyard AA, Kelley ML, Chi E, Jarvik GP, Dale DC. |
| 2014 | Shwachman-Diamond Syndrome in Adults. Pediatric Blood & Cancer. 2014;61:S9-S9. | Abstract | Myers, Kasiani, Bolyard, Audrey Anna, Jones, Amanda, Otto, Barbara, Dobbins, Nicholas, Moore, Joan, Harris, Richard, Davies, Stella, Dale, David, Shimamura, Akiko. |
| 2014 | Shwachman-Diamond syndrome in adults. (American Society of Pediatric Hematology/Oncology 27th Annual Meeting). May 2014. | Abstract | Myers KC, Bolyard AA, Jones A, Otto B, Dobbins N, Moore J, Harris RE, Davies SM, Dale DC, and Shimamura A. |
| 2014 | Registries for Evaluatin Patient Outcomes: A User’s Guide. 3rd ed. Rockville, MD: Agency for Healthcare Research and Quality. 2014 Apr AHRQ Publication No. 13(14)-EHC111. Available at: http://www.effectivehealthcare.ahrq.gov/registries-guide-3.cfm | Book Chapter | Starzyk K, Dale D, Groft S, Harrison M, Richesson R, Rubenstein Y, Strange C. Rare Disease Registries. In: Gliklich RE, Dreyer NA, Leavy MB, eds. |
| 2014 | CXCR2 antagonist MK-7123 – a phase 2 proof-of-concept trial for chronic obstructive pulmonary disease. Am J Respir Crit Care Med. (American Thoracic Society 2014 International Conference). May 2014. | Abstract | Rennard SI, Dale DC, Donohue JF, Kanniess F, Magnussen H, Sutherland ER, Watz H, Lu S, Stryszak P, Rosenberg E, Staudinger H. |
| 2014 | Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis. Blood. 2014;123:2229-37. PMID: 24523240 | Journal Article | Skokowa J, Steinemann D, Katsman-Kuipers JE, Zeidler C, Klimenkova O, Klimiankou M, Unalan M, Kandabarau S, Makaryan V, Beekman R, Behrens K, Stocking C, Obenauer J, Schnittger S, Kohlmann A, Valkhof MG, Hoogenboezem R, Göhring G, Reinhardt D, Schlegelberger B, Stanulla M, Vandenberghe P, Donadieu J, Zwaan CM, Touw IP, van den Heuvel- Eibrink MM, Dale DC, Welte K. |
| 2014 | Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman- Diamond Syndrome Registry. J Pediatr. 2014;164:866-70. PMCID: PMC4077327 | Journal Article | Myers KC, Bolyard AA, Otto B, Wong TE, Jones AT, Harris RE, Davies SM, Dale DC, Shimamura A. |
| 2013 | Variable 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: PMC4077327 | Journal Article | Myers K, Bolyard AA, Otto B, Wong T, Jones A, Dobbins N, Moore J, Harris R, Davies S, Dale D, Shimamura A. |
| 2013 | Update from the North-American Shwachman-Diamond syndrome registry: variable clinical presentation of Shwachman-Diamond syndrome. 7th International Congress on Shwachman-Diamond Syndrome). Nov 2013. | Abstract | Myers KC, Bolyard AA, Otto B, Wong TE, Jones A, Dobbins N, Moore J, Harris RE, Davies SM, Dale DC, Shimamura A. |
| 2013 | TCIRG1 associated congenital neutropenia. Blood (ASH Annual Meeting Abstracts) 2013;122:440. | Abstract | Makaryan 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. |
| 2013 | Shwachman-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 Article | Shimamura, A |
| 2013 | Shwachman- Diamond Syndrome in Adults. (ASH Annual Meeting Abstracts) Dec 2013 (submitted) | Abstract | Myers KC, Bolyard AA, Jones A, Otto B, Dobbins N, Moore J, Harris RE, Davies SM, Dale DC, Shimamura A. |
| 2013 | Primary and secondary neutropenia. Z Rheumatol. 2013 Aug 17. German. PubMed PMID: 23949279. | Journal Article | Zeidler, Cornelia |
| 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. | Abstract | Myers KC, Bolyard AA, Otto B, Dobbins N, Jones A, Wong TE, Harris RE, Davies SM, Dale DC, Shimamura, A. |
| 2013 | Pluripotent 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 Article | Tulpule A, Kelley JM, Lensch MW, McPherson J, Park IH, Hartung O, Nakamura T, Schlaeger TM, Shimamura A, Daley GQ. |
| 2013 | Neutropenia. Conn’s Current Therapy 2013. Elsevier. Waltham, MA. 825-830, 2013. | Book Chapter | Boxer, Laurence A |
| 2013 | Neutropenia in glycogen storage disease 1b (GSD1b). Blood (ASH Annual Meeting Abstracts) 2013;122;2265. | Abstract | Dale DC, Bolyard AA, Marrero T, Kelley ML, Phan L, Boxer LA, Kishnani PS, Kurtzberg J, Weinstein D. |
| 2013 | Natural history of Barth syndrome: a national cohort study of 22 patients. Orphanet J Rare Dis. 2013;8:70. PMCID: PMC3656783. | Journal Article | Rigaud 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 | Molecular characteristics of a pancreatic adenocarcinoma associated with Shwachman-Diamond syndrome. Pediatric Blood and Cancer. May 2013;60(5):754-60. PMID: 23303473. | Journal Article | Dhanraj S, Manji A, Pinto D, Scherer SW, Favre H, Mignon L, Chetty R, Wei AC, Dror Y. |
| 2013 | Introduction to Granulocyte Disorders. In: Ochs HD, Smith CIE, Puck M, eds. Primary Immunodeficiency Diseases: A Molecular and Genetic Approach. 3rd ed. New York, NY: Oxford University Press; 2013;50:672- 75. | Book Chapter | Welte K, Zeidler C, Dale DC. |
| 2013 | Inherited bone marrow failure syndromes. In: Orkin SH, Nathan DG, Ginsburg D, Look AT, Fisher DE, eds. Nathan and Oski’s Hematology of Infancy and Childhood. 7th ed. Elsevier. 2013. | Book Chapter | Bessler M, Mason PJ, Link DC, and Wilson DB. |
| 2013 | Improving care of patients with immunodeficiency diseases. Curr Opin Hematol. 2013 Jan;20(1):1-2. PMID: 23196896. | Journal Article | Dale, David C |
| 2013 | Genetic Regulation of Fetal Hemoglobin in Inherited Bone Marrow Failure Syndromes. Human Genetics 132:473-480, 2013. PMCID: PMC3720816. | Journal Article | Ballew BJ, Yeager M, Jacobs K, Giri N, Alter BP, Boland J, Burdett L, Savage SA. |
| 2013 | Epidemiology of congenital neutropenia. Hematol Oncol Clin North Am 2013;27: 1-17 PMID: 23351985. | Journal Article | Donadieu J, Beaupain B, Mahlaoui N, Bellanne-Chantelot C |
| 2013 | Defective G-CSFR signaling pathways in congenital neutropenia. Hematol Oncol Clin North Am. 2013;27(1):75-88. PMID: 23351989. | Journal Article | Skokowa J, Welte K. |
| 2013 | CXCR2 antagonist MK-7123 - A phase 2 proof-of-concept trial for chronic obstructive pulmonary disease. (American Thoracic Society International Conference Abstracts). 2013; Abstract #44953. | Abstract | Rennard SI, Dale DC, Donohue JF, Kanniess F, Magnussen H, Sutherland ER, Watz H, Lu S, Stryszak P, Rosenberg E, Staudinger H. |
| 2013 | CXCL12 production by early mesenchymal progenitors is required for hematopoietic stem cell maintenance. Nature, 495:227-30, 2013. PMCID: PMC3600148. | Journal Article | Greenbaum A, *Hsu MS. Day RB, Schuettpelz LG, Christopher MJ, Borgerding JN, Nagasawa T, Link DC. |
| 2013 | Cooperativity of RUNX1 and CSF3R mutations in the development of leukemia in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis. Blood. (ASH Annual Meeting Abstracts) 2013;122:444. | Abstract | Steinemann D, Katsman-Kuipers J, Zeidler C, Klimenkova O, Klimiankou M, Uenalan M, Kandabarau S, Makaryan V, Beekman R, Stocking C, Obenauer J, Schnittger S, Kohlmann A, Valkhof M, Hoogenboezem R, Göhring G, Reinhardt D, Schlegelberger B, Stanulla M, Vandenberghe P, Donadieu J, Zwaan M, Touw IP, van den Heuvel-Eibrink MM, Dale DC, Welte K. |
| 2013 | Combined 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 Article | Boonyawat 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. |
| 2013 | Colony- stimulating factors for prevention and treatment of neutropenia and infectious diseases. In: Gabrilovich DI, ed. The Neutrophils: New Outlook for Old Cells. 3rd ed. London England: Imperial College Press; 2013:399-417 | Book Chapter | Dale DC, Quniton, LJ, Nelson, S. |
| 2013 | Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update. Hematol Oncol Clin North Am. 2013 Feb;27(1):117-28. PMID: 23351992 | Journal Article | Myers KC, Davies SM, Shimamura A. |
| 2013 | Cardiomyopathies and congenital heart diseases in Shwachman-Diamond syndrome: A national survey. Int J Cardiol. 2013;167:1048-50. PMID: 23164595. | Journal Article | Hauet Q, Bequpain B, Micheau M, Blayo M, Gandemer V, Gottrand F, Blin N, Fouyssac F, Lethor JP, Bellanne-Chantelot C, Bonnet D, Donadieu J. |
| 2013 | Barth syndrome and neutropenia. (ASH Annual Meeting Abstracts). Blood. 2013;122:3465. | Abstract | Dale DC, Bolyard AA, Marrero T, Bonilla MA, Phan L, Steward CG. |
| 2013 | Advances in understanding the pathogenesis of hemophagocytic lymphohistiocytosis. Br J Haematol 161:609- 22, 2013. | Journal Article | Usmani GN, Woda B, Newburger PE. |
| 2013 | Adults with Shwachman-Diamond syndrome. (7th International Congress on Shwachman- Diamond Syndrome) Nov 2013. | Abstract | Myers KC, Bolyard AA, Jones A, Otto B, Dobbins N, Moore J, Harris RE, Davies SM, Dale DC, Shimamura A. |
| 2013 | A framework for improving care of patients with immunodeficiencies and marrow failure disorders. Curr Opin Hematol. 2013;20:1–2. (Editorial) PMCID: PMC4066809 | Editorial | Dale, David C |
| 2013 | A feasibility study of home monitoring of blood neutrophil counts in patients with chronic neutropenia. (European Hematology Association [EHA] Annual Meeting Abstracts). 2013; Abstract P1027. June 2013. | Abstract | Dale DC, Kelley ML, Makaryan V, Rodger E, Otto B, Bolyard AA. |
| 2013 | Comprehensive Genomic Evaluation for Inherited Bone Marrow Failure and Myelodysplastic Syndromes, American Society of Hematology, 2013 | Abstract | Zhang, MY, Keel, SB, Walsh, T, Lee, M, Pritchard, C, Jeng, M, Watts, A, Abkowitz, JL, King, MC, and Shimamura, A. |
| 2013 | Genetic Regulation of Fetal Hemoglobin in Inherited Bone Marrow Failure Syndromes. British Journal of Haematology 162:542-546, 2013. PMCID: PMC3720816. | Journal Article | Alter BP, Rosenberg PS, Day T, Menzel S, Giri N, Savage SA, Thein SL |
| 2012 | Twenty years of the colony stimulating factors. Curr Op Hematol. 2012;19:1-2 (Editorial) PMID: 22143076. | Editorial | Dale, David C |
| 2012 | The 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 Article | Makaryan V, Kulik W, Vaz F, Allen C, Dror Y, Dale DC, Aprikyan AA. |
| 2012 | Tetralogy of fallot is an uncommon manifestation of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome. J Pediatr. 2012;161(4):763-5. PMCID: PMC3458406. | Journal Article | Badolato R, Dotta L, Tassone L, Amendola G, Porta F, Locatelli F, Notarangelo LD, Bertrand Y, Bachelerie F, Donadieu J. |
| 2012 | RUNX1 mutations are the most frequent leukemia associated mutations in congenital neutropenia patients. (ASH Annual Meeting Abstracts). Blood. 2012;120:7. | Abstract | Skokowa J, Steinemann D, Makaryan V, Klimiankou M, Schnittger,S, Kohlmann A, Schlegelberger B, Zeidler C, Dale DC, Welte K. |
| 2012 | rHuG-CSF for the Treatment of Severe Chronic Neutropenia. In: Molineux G, Arvedson T, Foote MA, eds. Twenty Years of G-CSF: Clinical and Nonclinical Discoveries, Basel, Switzerland: Springer-Basel; 2012:279-291. | Book Chapter | Dale DC, Bolyard AA. |
| 2012 | Neutrophil depletion impairs natural killer cell maturation, function, and homeostasis. J Exp Med. 2012;209:565-80. PMCID: PMC3302230. | Journal Article | Jaeger BN, Donadieu J, Cognet C, Bernat C, Ordonez-Rueda D, Barlogis V, Mahlaoui N, Fenis A, Narni-Mancinelli E, Beaupain B, Bellanne-Chantelot C, Bajenoff M, Malissen B, Malissen M, Vivier E, Ugolini S. |
| 2012 | Kruppel like factor 7 suppresses hematopoietic stem and progenitor cell function. Blood, 120:2981-9, 2012. PMCID: PMC3471512. | Journal Article | Schuettpelz L, Gopalan PK, Romine M, Fiuste F, and Link DC. |
| 2012 | Interaction among HCLS1, HAX1, and LEF-1 proteins is essential for G-CSF triggered granulopoiesis. Nat Med. 2012; 18:1550-9. PMID: 23001182. | Journal Article | Skokowa J, Klimiankou M, Klimenkova O, Lan D, Gupta K, Hussein K, Carrizosa E, Kusnetsova I, Li Z, Sustmann C, Ganser A, Zeidler C, Kreipe HH, Burkhardt J, Grosschedl R, Welte K. |
| 2012 | Impaired Ribosomal Subunit Association in Shwachman-Diamond Syndrome. Blood. 2012 December 20;120(26): 5143–5152. PMID: 23115272. PMCID: PMC3537309 | Journal Article | Burwick, N, Coats, SA, Nakamura, T, and Shimamura, A. |
| 2012 | Hematopoietic stem cell transplantation for severe congenital neutropenia. Curr Opin Hematol. 2012:19:44-51. (Review) PMCID: PMC3291495 | Review | Connelly JA, Choi SW, Levine JE. |
| 2012 | Guidelines for pediatric management of severe chronic neutropenia. Am J Hematol. 2012;87:133. (Commentary) PMID: 22237723 | Commentary | Dale DC, Boxer LA. |
| 2012 | For the Severe Chronic Neutropenia International Registry and Repository (SCNIR). The natural history of cyclic neutropenia: long-term prospective observations and current perspectives. (ASH Annual Meeting Abstracts). Blood. 2012;120:2141. | Abstract | Dale DC, Bolyard AA, Marrero T, Bonilla MA, Link DC, Newburger P, Shimamura A, Boxer LA |
| 2012 | For 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. | Abstract | Makaryan V, Zeidler C, Bolyard AA, Skokowa J, Kelley ML, Boxer LA, Bonilla MA, Newburger P, Shimamura A, Welte K, Dale DC |
| 2012 | For 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 120:3275 | Abstract | Makaryan 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 |
| 2012 | Extended 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 Article | Boztug 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. |
| 2012 | Extended molecular and clinical phenotype of human G6PC3 deficiency. Journal of Pediatrics 160:679-683, 2012. PMCID: PMC3718741. | Journal Article | Boztug 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 |
| 2012 | ER stress-induced expression of CCAAT/enhanced binding protein gamma (C/EBPG) may contribute to the block in granulocytic differentiation in severe congenital neutropenia. Presented at the 54th Annual ASH Meeting and Exposition, Atlanta, GA, 2012. | Abstract | Xia J, Boxer LA, Link DC. |
| 2012 | Early studies of AMD3100/plerixafor in healthy volunteers. In: Freuhauf S, Zeller WJ, Calandra G, eds. Novel Developments in Stem Cell Mobilization: Focus on CXCR4. New York, NY: Springer; 2012:89-102 | Book Chapter | Dale DC, Liles WC. |
| 2012 | Do G-CSF schedules make a difference? Am J Clin Oncol. 2012;35:307. (Letter to the Editor) PMID: 22609734 | Letter to the Editor | Dale, David C |
| 2012 | Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry. Orphanet J Rare Dis. 2012;7:71. PMCID: PMC3585856. | Journal Article | Beaussant Cohen S, Fenneteau O, Plouvier E, Rohrlich PS, Daltroff G, Plantier I, Dupuy A, Kerob D, Beaupain B, Bordigoni P, Fouyssac F, Delezoide AL, Devouassoux G, Nicolas JF, Bensaid P, Bertrand Y, Balabanian K, Chantelot CB, Bachelerie F, Donadieu J. |
| 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 Article | Donadieu 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 | Bone Marrow Failure Syndromes. Neonatal Hematology, Pathogenesis, Diagnosis, and Management of Hematologic Problems, 2nd Ed., Cambridge University Press, pp 47-64, 2012. | Book Chapter | Rogers ZR, Alter BP In de Alarcon P, Werner EJ, Christensen RD, eds, |
| 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. | Abstract | Myers K, Bolyard AA, Otto B, Dobbins N, Jones A, Wong T, Harris R, Davies S, Dale D, Shimamura A. |
| 2012 | How to Approach Neutropenia Hematology. American Society of Hematology Education Program. 2012; 174-182, 2012. | Other | Boxer, Laurence A |
| 2011 | Update on the risk of secondary leukemia in genetic subgroups (ELANE, HAX1, WAS, G6PC3, p14) of congenital neutropenia in Europe. Blood (ASH Annual Meeting Abstracts). 2011;118:1106. | Abstract | Zeidler C, Vandenberghe P, Schäfer I, Hoy L, Zimmermann M, Germeshausen M, Welte K. |
| 2011 | Uncoupling 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: PMC3084026 | Journal Article | Finch 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. |
| 2011 | The ribosome- related protein, SBDS, is critical for normal erythropoiesis. Blood,2011:8;118(24):6407- 17. PMID: 21963601 | Journal Article | Sen S, Wang H, Nghiem CL, Zhou K, Yau J, Tailor C, Irwin M, Dror Y. |
| 2011 | The ENCODE Project Consortium*. A User's Guide to the Encyclopedia of DNA Elements (ENCODE). PLoS Biol 9:e1004046, 2011 (*329 Authors). | Journal Article | Newburger, PE |
| 2011 | The CXCR4 antagonist plerixafor is a potential therapy for myelokathexis, WHIM syndrome: Brief Reports. Blood. 2011;118:4963-6. PMCID: PMC3673761 | Journal Article | Dale DC, Bolyard AA, Kelley ML, Westrup EC, Makaryan V, Aprikyan A, Wood B, Hsu F. |
| 2011 | The CXCR4 antagonist plerixafor is a potential therapy for myelokathexis, WHIM syndrome. Blood. 2011 Nov 3;118(18):4963-6. doi: 10.1182/blood-2011-06-360586. Epub 2011 Aug 11. PMID: 21835955; PMCID: PMC3673761. | Journal Article | Dale DC, Bolyard AA, Kelley ML, Westrup EC, Makaryan V, Aprikyan A, Wood B, Hsu FJ. |
| 2011 | The cellular and molecular mechanisms of neutropenia in Barth syndrome. Blood (ASH Annual Meeting Abstracts). 2011;118:1105. | Abstract | Aprikyan AA, Makaryan V, Kulik W, Vaz F, Allen C, Dror Y, Dale DC. |
| 2011 | Serine proteases, serpins and neutropenia. J Leuk Biol. 2011;90(1):3-4. (Editorial) PMID: 21719462 | Editorial | Dale, David C |
| 2011 | SBDS and eIF6 modulate ribosome subunit joining in Shwachman-Diamond syndrome. Blood (ASH Annual Meeting Abstracts). 2011;118:3438. | Abstract | Burwick N, Coats S, Shimamura A. |
| 2011 | Pregnancy outcome in genetic subtypes of congenital neutropenia. Blood (ASH Annual Meeting Abstracts). 2011;118:4722. | Abstract | Zeidler C, Brand B, Grote UAH, Nickel A, Welte KH. |
| 2011 | Plerixafor is a potential therapy for myelokathexis, WHIM syndrome. The 16th Congress of European Hematology Association. June 2011. | Abstract | Dale DC, Bolyard AA, Kelley ML, Westrup EC, Makaryan V, Aprikyan A, Wood B, Hsu F. |
| 2011 | Non-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 Article | Burwick N, Shimamura A, Liu JM |
| 2011 | Neutrophils. In: Kliegman RM, Stanton BE, St. Geme J, Schor N, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia: W.B. Saunders; 2011:739 | Book Chapter | Boxer LA and Newburger PE. |
| 2011 | Neutrophils in Nelson Textbook of Pediatrics. 19th edition. Kliegman RM, Stanton BE, St. Geme J, Schor N, Behrman RE (eds). Philadelphia, W.B. Saunders. p. 739, 2011. | Book Chapter | Boxer LA and Newburger PE. |
| 2011 | Neutrophil Functions in Patients with Inherited Bone Marrow Failure Syndromes. Pediatric Blood and Cancer 57:306-309, 2011. PMCID: PMC3116953. | Journal Article | Rochowski A, Sun C, Glogauer M, Alter BP |
| 2011 | Neutrophil extracellular traps (NETs) in patients with congenital neutropenia. Blood (ASH Annual Meeting Abstracts). 2011;118:15. | Abstract | Happle C, Germeshausen M, Zeidler C, Welte K, Skokowa J. |
| 2011 | mRNA and protein expression levels of secretory leukocyte protease inhibitor (slpi) are severely reduced in patients with severe congenital neutropenia (cn). Blood (ASH Annual Meeting Abstracts). 2011;118:2165. | Abstract | Ellerbeck W, Klimenkova O, Skokowa J, Welte K. |
| 2011 | Mechanism of the elevated UPR in CN patients but not in CyN patients carrying same ELANE mutations. Blood (ASH Annual Meeting Abstracts). 2011;118:14. | Abstract | Nustede R, Kuznetsova I, Welte K, Skokowa J. |
| 2011 | Long term outcomes of myeloid growth factor treatment. J Natl Compr Canc Netw. 2011;9:945-52. PMID: 21900223 | Journal Article | Lyman GH, Dale DC. |
| 2011 | Leukopenia. In: Kliegman RM, Stanton BE, St. Geme J, Schor N, Behrman RE. eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia: W.B. Saunders;2011:746-752. | Book Chapter | Boxer LA and Newburger PE. |
| 2011 | Leukopenia in Nelson Textbook of Pediatrics. 19th edition. Kliegman RM, Stanton BE, St. Geme J, Schor N, Behrman RE (eds). Philadelphia, W.B. Saunders. pp 746-752., 2011. | Book Chapter | Boxer LA and Newburger PE. |
| 2011 | Leukocytosis in Nelson Textbook of Pediatrics. 19th edition. Kliegman RM, Stanton BE, St. Geme J, Schor N, Behrman RE (eds). Philadelphia, W.B. Saunders. p 752, 2011. | Book Chapter | Boxer LA and Newburger PE. |
| 2011 | Impact of G-CSF on outcomes of pregnancy in women with severe chronic neutropenia. (ASH Annual Meeting Abstracts). Blood. 2011;118:4786. | Abstract | Boxer LA, Bolyard AA, Marrero TM, Phan L, Bond JM, Alter BP, Bonilla MA, Link D, Newburger PE, Rosenberg PS, Shimamura A, Dale DC. |
| 2011 | Glycogen storage disease; neutropenia and enterocolitis in GSD 1b. Am J Med Genet. 2011. (submitted); PMC Journal - In process. | Journal Article | Dale, David C |
| 2011 | Genetic Analysis of Inherited Bone Marrow Failure Syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations. J Med Genet, 2011:48(9):618-28. PMID: 21659346. | Journal Article | Tsangaris E, et al, Klaassen R, Fernandez CV, Yanofsky R, Scherek E, Champagne J, Silva M, Lipton JH, Brossard J, Samson Y, Abish S, Steele M, Ali K, Dower N, Athale U, Jardine L, Hand JP, Stephen D, Odame I, Canning P, Allen C, Beyene J, Dror Y. |
| 2011 | Eosinophils in Nelson Textbook of Pediatrics. 19th edition. Kliegman RM, Stanton BE, St. Geme J, Schor N, Behrman RE (eds). Philadelphia, W.B. Saunders, pp 739-741, 2011. | Book Chapter | Boxer LA and Newburger PE. |
| 2011 | ELANE Mutations in cyclic and congenital neutropenia: genotype- phenotype and structure-function relationships. (ASH Annual Meeting Abstracts). Blood. 2011;118:3398. | Abstract | Dale DC, Makaryan V, Bolyard AA, Rodger ER, Kelley ML, Marrero TM, Phan L, Aprikyan AA, Bonilla MA, Newburger PE, Boxer LA, Link D. |
| 2011 | Editorial: Serine proteases, serpins, and neutropenia. J Leukoc Biol. 2011 Jul;90(1):3-4. PMID: 21719462. | Editorial | Dale, David C |
| 2011 | Disorders of phagocyte function. In: Kliegman RM, Stanton BE, St. Geme J, Schor N, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia: W.B. Saunders;2011:741-746. | Book Chapter | Boxer LA and Newburger PE. |
| 2011 | Disorders of phagocyte function in Nelson Textbook of Pediatrics. 19th edition. Kliegman RM, Stanton BE, St. Geme J, Schor N, Behrman RE (eds). Philadelphia, W.B. Saunders. pp 741-746, 2011. | Book Chapter | Boxer LA and Newburger PE. |
| 2011 | Disorders of Granulocytes in Rudolph’s Pediatrics, 22nd edition. Rudolph C, Rudolph A, First L, Lister, G., Gershon A.A. (eds). New York, McGraw-Hill, pp 1590-1596, 2011. | Book Chapter | Blackwood, R.A. and Boxer, L.A. |
| 2011 | Cyclic and chronic neutropenia: An update on diagnosis and treatment. Clin Adv Hematol Oncol. 2011;11:868-69. PMID: 22252620 | ECL | Dale, David C |
| 2011 | Cyclic and Chronic Neutropenia. In: Lyman GH, Dale DC, eds. Hematopoietic Growth Factors in Oncology. 1st ed. New York NY: Springer Science+Business Media; 2011:97-108 | Book Chapter | Dale DC, Welte K. |
| 2011 | Cyclic and chronic neutropenia. Cancer Treat Res. 2011;157:97-108. PMID: 21052952. | Review | Dale DC, Welte K. |
| 2011 | Congenital neutropenia: diagnosis, molecular bases and patient management. Orphanet J Rare Dis. 2011 May 19;6:26. Review. PMID: 21595885; PMCID: PMC3127744 | Journal Article | Donadieu J, Fenneteau O, Beaupain B, Mahlaoui N, Chantelot CB. |
| 2011 | Congenital neutropenia in a newborn. Journal of Perinatology. 31: S22-S23, 2011. PMID: 21448199. | Journal Article | Walkovich K, and Boxer LA. |
| 2011 | Clinical features of Shwachman-Diamond syndrome patients lacking biallelic SBDS mutation. (ASH Annual Meeting Abstracts). Blood. 2011;118:4367. | Abstract | Shimamura A, Bolyard AA, Chakrabarti S, Bond JM, Cole T, Moore J, Boxer LA, Newburger PE, Alter BP, Harris RE, Davies SM, Dale DC. |
| 2011 | Cellular and molecular mechanisms of neutropenia and possibly cardiomyopathy in Barth syndrome. American Heart Association. Scientific Sessions 2011 Nov. | Abstract | Makaryan V, Kulik W, Vaz Frederic, Allen C, Dror Y, Dale DC, Aprikyan AA. |
| 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 Article | Dror 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 |
| 2011 | Neutropenia in glycogen storage disease 1b (GSD1b). (ASH Annual Meeting Abstracts). Blood. 2011;118:4791. | Abstract | Dale DC, Bolyard AA, Marrero TM, Phan L, Boxer LA, Kishnani PS, Kurtzberg J, Weinstein DA. |
| 2010 | The risk of low bone mineral density with long-term G-CSF therapy for severe chronic neutropenia. (ASH Annual Meeting Abstracts). Blood. 2010;116:1484. | Abstract | DiMeglio LA, Bolyard AA, Marrero TM, Alter BP, Bonilla MA, Boxer LA, Link D, Newburger P, Rosenberg PS, Shimamura A, Dale DC. |
| 2010 | Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy. Br J. Haematol. 2010;150:196-9. PMCID: PMC2906693 | Journal Article | Rosenberg PS, Zeidler C, Bolyard AA, Alter BP, Bonilla MA, Boxer LA, Dror Y, Kinsey S, Link D, Newburger P, Shimamura A, Welte K, Dale DC. |
| 2010 | Stable Long-Term Risk of Leukaemia in Patients with Severe Congenital Neutropenia Maintained on G- CSF Therapy. B J Haematol. April 29, 2010: 7-1048. PMID 20456363. | Article | Rosenberg PS, Zeidler C, Bolyard AA, Alter BP, Bonilla MA, Boxer LA, Dror Y, Kinsey S, Link DC, Newburger PE, Shimamura A, Welte K, Dale DC. |
| 2010 | Small molecule inhibitor of neutrophil elastase normalizes myeloid differentiation and improves impaired cell survival triggered by elastase mutations in patients with severe congenital neutropenia and acute myeloid leukemia. (ASH Annual Meeting Abstracts). Blood. 2010;116:386. | Abstract | Aprikayn AA, Makaryan V, Totrov M, Abagyan R, Dale DC. |
| 2010 | SBDS protein expression patterns in bone marrow. Pediatr Blood Cancer. 2010 Sep;55(3):546-9. (*Corresponding author) PMID: 20658628. PMCID: PMC2913690. | Journal Article | Wong, TE, Calicchio, ML, Fleming, MD, Shimamura, A*, and Harris, MH. |
| 2010 | SBDS- 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 Article | Ambekar C, Das B, Yeger H, Dror Y. |
| 2010 | Recent progress in understanding the congenital neutropenias. Curr Op Hematol. 2010;17:1-2. (Editorial) PMID: 19881345. | Editorial | Dale, David C |
| 2010 | Pathophysiology and Management of Inherited Bone Marrow Failure Syndromes. Blood Reviews 24:101- 122, 2010. PMCID: PMC3733544. PMID 20417588. | Journal Article | Shimamura A, Alter BP |
| 2010 | Outcomes of pregnancies for women with severe chronic neutropenia with or without G CSF treatment. Blood (ASH Annual Meeting Abstracts). 2010; 116:1490. | Abstract | Boxer LA, Bolyard AA, Marrero TM, Alter BP, Bonilla MA, Link D, Newburger P, Rosenberg PS, Shimamura A, Dale DC. |
| 2010 | Neutrophil elastase mutations and the risk of leukemia in patients with cyclic and congenital neutropenia. (ASH Annual Meeting Abstracts). Blood. 2010;116:3786. | Abstract | Dale DC, Makaryan V, Bolyard AA, Rodger E, Aprikyan A, Bonilla MA, Newburger P, Boxer LA, Link D. |
| 2010 | Neutropenia and Neutrophilia. William's Hematology. 8th ed. Lichtman MA, Kipps TJ, Kaushansky K, Beutler E, etal, eds. New York, NY: McGraw-Hill;2010. Chapter 71, 823-34. | Book Chapter | Dale, David C |
| 2010 | Neutropenia and Neutrophilia. In: Lichtman MA, Kipps TJ, Kaushansky K, Beutler E, Seligsohn U, Prchal JT. eds. Williams Hematology. 8th ed. New York, NY: McGraw-Hill; 2010:939-50 | Book Chapter | Dale, David C |
| 2010 | Malignancies and Survival Patterns in the National Cancer Institute Inherited Bone Marrow Failure Syndromes Cohort Study. British Journal of Haematology 150:179-188, 2010. PMCID: PMC3125983. | Journal Article | Alter BP, Giri N, Savage SA, Peters JA, Loud JT, Leathwood L, Carr A, Greene MH, Rosenberg PS |
| 2010 | Indications for hematopoietic cell transplantation for children with severe congenital neutropenia. Pediatr Transplant 2010, 14:937-9. PMID: 20819181. | Journal Article | Choi SW, Levine JE. |
| 2010 | Hematopoietic growth factors. In: Gregory SA, McCrae KR, eds. ASH-SAP American Society of Hematology Self-Assessment Program Textbook. 4th ed. Washington, DC:American Society of Hematology; 2010;3:75-92. | Book Chapter | Dale DC, Lyman GH. |
| 2010 | Hematopoietic growth factors. In: Gregory SA, McCrae KR, eds. American Society of Hematology - Self- Assessment Program (ASH-SAP) Question & Answer Book. 4th ed. Washington, DC: Cadmus Communications; 2010;3:11-13. | Book Chapter | Dale DC, Lyman GH. |
| 2010 | Hematology. 8th ed. New York, NY, McGraw-Hill; 2010:951-986. | Book Chapter | Borregaard N, Boxer LA. Disorders of neutrophil function. In: Kaushansky K, Lichtman MA, Bentler E, Kipps T, Seligsohn V, Prchal JT, eds. |
| 2010 | Frequency and Natural History of Inherited Bone Marrow Failure Syndromes: the Israeli Inherited Bone Marrow Failure Registry. Haematologica 95:1300-1307, 2010. PMCID: PMC2913078. | Journal Article | Tamary H, Nishri D, Yacobovich J, Zilber R, Dgany O, Krasnov T, Aviner S, Stepensky P, Vilk-Ravel SS, Bitan M, Kaplinsky C, Ben Barak A, Ronit Elhasid R, Kapelusnik J, Koren A, Levin C, Atias D, Laor R, Yaniv I, Rosenberg PS, Alter BP |
| 2010 | For the Severe Chronic Neutropenia International Registry. Barth syndrome and severe chronic neutropenia. (ASH Annual Meeting Abstracts). Blood. 2010;116:3787. | Abstract | Collins S, Bolyard AA, Marrero, TM, Phan L, Dale DC |
| 2010 | Extended molecular and clinical phenotype of human G6PC3 deficiency. (ASH Annual Meeting Abstracts). 2010. | Abstract | Boztug K, Rosenberg PS, Bohm M, Moulton T, Curtin J, Rezael N, Corns J, Innis J, Avci Z, Tran HC, Pellier I, Gatti S, Fruge R, Parvaneh N, Darbyshire P, Buchanan G, Alter BP, Boxer LA, Donadieu J, Welte K, Klein C. |
| 2010 | Digenic mutations in severe congenital neutropenia. Haematologica. 2010;95(7):1207-10. PMID: 20220065. PMCID: PMC2895047. | Journal Article | Germeshausen M, Zeidler C, Stuhrmann M, Lanciotti M, Ballmaier M, Welte K. |
| 2010 | Cyclic 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 Article | Newburger PE, Pindyck TN, Zhu Z, Bolyard AA, Aprikyan AA, Dale DC, Smith GD, Boxer LA. |
| 2010 | CXCR2 and CXCR4 antagonistically regulate neutrophil trafficking from murine bone marrow. J Clin Invest. 2010 Jul 1;120(7):2423-31. PMCID PMC2898597 | Journal Article | Eash KJ, Greenbaum AM, Gopalan PK, and Link DC. |
| 2010 | Comparative analysis of Shwachman-Diamond Syndrome to other Inherited Marrow Failure Syndromes. Clinic Genet 2010. PMID: 20569259. | Journal Article | Hashmi 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. |
| 2010 | Clinical spectrum and molecular pathophysiology of Shwachman-Diamond syndrome. Curr Opin Hematol. 2010 Nov 30. [Epub ahead of print] PMID: 21124213. PMCID: PMC3485416 | Journal Article | Huang JN and Shimamura A. |
| 2010 | Common clinical features of inherited bone marrow failure syndromes. Hem Onc Today. 11:16, 2010. www.hemonctoday.com/ | Journal Article | Boxer, Laurence A |
| 2009 | Use of rituximab for refractory cytopenias associated with autoimmune lymphoproliferative syndrome (ALPS). Pediatr Blood Cancer, 52:847-52, 2009. | Journal Article | Rao VK, Price S, Perkins K, Aldridge P, Tretler J, Davis J, Dale JK, Gill F, Hartman KR, Stork LC, Gnarra DJ, Krishnamurti L, Newburger PE, Puck J, Fleisher T. |
| 2009 | There are so many causes of neutropenia. NEJM, 360:3-5, 2009 | Journal Article | Dale DC and Link DC |
| 2009 | The phagocyte system and disorders of granulopoiesis and granulocyte function. In: Orkin SH, Ginsburg D, Nathan DG, Look AT, Fisher DA, Lux SE, eds. Nathan and Oski’s Hematology of Infancy and Childhood. 7th ed. Philadelphia: Elsevier, Inc.;2009:1109-1220. | Book Chapter | Dinauer MC, Newburger, PE. |
| 2009 | The many causes of severe congenital neutropenia. N Engl J Med. 2009;360:3-5. PMID: 19118300. PMCID: PMC4162527 | Journal Article | Dale DC, Link DC. |
| 2009 | Stable long-term risk of leukemia in patients with severe congenital neutropenia maintained on G-CSF therapy. (ASH Annual Meeting Abstracts). Blood. 2009;114:3206. | Abstract | Rosenberg PS, Zeidler C, Bolyard AA, Alter BP, Bonilla MA, Dror Y, Kinsey SE, Link DC, Shimamura A, Newburger PE, Boxer LA, Welte K, Dale DC. |
| 2009 | Small molecule inhibitor of neutrophil elastase and severe congenital neutropenia. Blood (ASH Annual Meeting Abstracts). 2009;114:552. | Abstract | Aprikyan AA, Makaryan V, Totrov M, Abagyan R, Dale DC. |
| 2009 | Shwachman-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. | Abstract | Shimamura A, Bolyard AA, Marrero T, Alvendia M, Ellis L, Rommens JM, Harris RE, Durie P, Dror Y, Dale DC. |
| 2009 | Shwachman-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 Article | Burroughs L, Woolfrey A, Shimamura A. |
| 2009 | Shwachman-Diamond Syndrome. In: Lang F, ed. Encyclopedic Reference of Molecular Mechanisms of Disease. Berlin Heidelberg: Springer- Verlag;2009:1931-32. | Book Chapter | Rawls AS, Link DC. |
| 2009 | Severe congenital neutropenia. Hematol Oncol Clin North Am. 2009 Apr; 23(2):307-20. PMID: 19327585. | Journal Article | Welte K, Zeidler C. |
| 2009 | SBDS-deficiency results in specific hypersensitivity to Fas stimulation and accumulation of Fas at the plasma membrane. Apoptosis 2009;14:77-89. PMID: 19009351. | Journal Article | Watanabe K, Ambekar C, Schimmer A, Dror Y. |
| 2009 | RAS and CSF3R mutations in severe congenital neutropenia. Blood. 2009 Oct 15;114(16):3504-5. PMID: 19833857. | Journal Article | Germeshausen M, Kratz CP, Ballmaier M, Welte K. |
| 2009 | Prevalence 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 Article | Xia J, Bolyard AA, Rodger E, Stein S, Aprikyan AA, Dale DC, Link DC. |
| 2009 | Neutrophil biology and the next generation of myeloid growth factors. J Natl Compr Canc Netw. 2009;7:92-8. PMCID: PMC4445720. PMID: 19176209. | Review | Dale, David C |
| 2009 | Mutant CXCR4-induced aberrant retention and apoptosis of hematopoietic cells in myelokathexis and normalization of cell survival and mobilization with specific inhibitors. (ASH Annual Meeting Abstracts). Blood. 2009;114:237. | Abstract | Makaryan V, Penate O, Dale DC, Aprikyan AA. |
| 2009 | Loss 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. | Abstract | Makaryan V, Dror Y, Aprikyan AA. |
| 2009 | Hematopoietic growth factors (cytokines). In: Simon TL, et al, eds. Rossi's Principles of Transfusion. 4th ed. AABB, Bethesda MD and Blackwell, Oxford UK, 2009, pp 498-507. | Book Chapter | Liles WC, Dale DC. |
| 2009 | Granulocyte transfusion therapy: a new era? Curr Opin Hematol. 2009 Jan;16(1):1-2. (Editorial) PubMed PMID: 19057197. PMCID: PMC2674763. | Journal Article | Dale DC, Price TH. |
| 2009 | Granulocyte Transfusion Therapy: A New Era? Curr Opin Hematol. Curr Opin Hematol. 2009 Jan; 16(1): 1–2. | Journal Article | Dale DC, Price TH. |
| 2009 | Genetic 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. | Review | Ward AC, Dale DC. |
| 2009 | Dysregulation of myeloid-specific transcription factors in congenital neutropenia. Ann N Y Acad Sci. 2009 Sep;1176:94-100. PMID: 19796237. | Journal Article | Skokowa J, Welte K. |
| 2009 | CXCR4 is a key regulator of neutrophil release from the bone marrow under basal and stress granulopoiesis conditions, Blood, 113:4711-9, 2009 PMCID PMC268037 | Journal Article | Eash KJ, Means JM, White DW, and Link DC |
| 2009 | Clinical approach to marrow failure. Hematology Am Soc Hematol Educ Program. 2009:329-37. PMCID: PMC2867260. | Journal Article | Shimamura, A |
| 2009 | Bone 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 Article | Rujkijyanont, P, Adams S, Beyene J, Dror Y. |
| 2009 | Bone density measurements in patients with severe chronic neutropenia on long-term G-CSF therapy. (ASH Annual Meeting Abstracts). Blood. 2009;114:1362. | Abstract | Dale DC, Bolyard AA, DiMeglio LA, Marrero TM, Boxer LA. |
| 2009 | Advances in the treatment of neutropenia. Curr Opin Support Palliat Care. 2009;3:207-12. (Review) PMCID: PMC3390973. PMD: 19550332 | Journal Article | Dale, David C |
| 2009 | Advances in the treatment of neutropenia. Curr Op Support Palliat Care. 2009;3:207-12. PMCID: PMC3390973 | Journal Article | Dale, David C |
| 2009 | A novel syndrome with congenital neutropenia caused by mutations in G6PC3. N Engl J Med. 2009; 360:32-43. PMCID: PMC2778311. | Journal Article | Boztug 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. |
| 2009 | Update on the risk of leukemia in genetic subgroups of congenital neutropenia (CN): comparison of patients with known gene mutations (ELA2 , HAX1, WAS, G6PC3, P14) . (ASH Annual Meeting Abstracts). Blood. 2009;114:3597. | Abstract | Zeidler C, Donadieu J, Bolyard AA, Vandenberghe P, Pracht G, Beaupain B, Hoy L, Zimmermann M, Bellanné-Chantelot C, Link D, Klein C, Germeshausen M, Dale DC, Welte K, for the Severe Chronic Neutropenia International Registry (SCNIR) and the French Neutropenia Registry. |
| 2009 | 50 years ago in The Journal of Pediatrics: Infantile agranulocytosis of congenital origin. J Pediatr 154:841, 2009 [invited mini-review]. | Review | Newburger, Peter E |