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1.
Heterozygous variants of CLPB are a cause of severe congenital neutropenia.
Blood
; 139(5): 779-791, 2022 02 03.
Article
in English
| MEDLINE | ID: mdl-34115842
2.
Results of a phase 2 trial of an oral CXCR4 antagonist, mavorixafor, for treatment of WHIM syndrome.
Blood
; 136(26): 2994-3003, 2020 12 24.
Article
in English
| MEDLINE | ID: mdl-32870250
3.
Family studies of warts, hypogammaglobulinemia, immunodeficiency, myelokathexis syndrome.
Curr Opin Hematol
; 27(1): 11-17, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31652152
4.
Somatic mutations and clonal hematopoiesis in congenital neutropenia.
Blood
; 131(4): 408-416, 2018 01 25.
Article
in English
| MEDLINE | ID: mdl-29092827
5.
CRISPR/Cas9-mediated ELANE knockout enables neutrophilic maturation of primary hematopoietic stem and progenitor cells and induced pluripotent stem cells of severe congenital neutropenia patients.
Haematologica
; 105(3): 598-609, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31248972
6.
Neutropenia in glycogen storage disease Ib: outcomes for patients treated with granulocyte colony-stimulating factor.
Curr Opin Hematol
; 26(1): 16-21, 2019 01.
Article
in English
| MEDLINE | ID: mdl-30451720
7.
Association Between Absolute Neutrophil Count and Variation at TCIRG1: The NHLBI Exome Sequencing Project.
Genet Epidemiol
; 40(6): 470-4, 2016 09.
Article
in English
| MEDLINE | ID: mdl-27229898
8.
Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis.
Blood
; 123(14): 2229-37, 2014 Apr 03.
Article
in English
| MEDLINE | ID: mdl-24523240
9.
The diversity of mutations and clinical outcomes for ELANE-associated neutropenia.
Curr Opin Hematol
; 22(1): 3-11, 2015 Jan.
Article
in English
| MEDLINE | ID: mdl-25427142
10.
Long-Term Effects of G-CSF Therapy in Cyclic Neutropenia.
N Engl J Med
; 377(23): 2290-2292, 2017 12 07.
Article
in English
| MEDLINE | ID: mdl-29211670
11.
TCIRG1-associated congenital neutropenia.
Hum Mutat
; 35(7): 824-7, 2014 Jul.
Article
in English
| MEDLINE | ID: mdl-24753205
12.
The CXCR4 antagonist plerixafor is a potential therapy for myelokathexis, WHIM syndrome.
Blood
; 118(18): 4963-6, 2011 Nov 03.
Article
in English
| MEDLINE | ID: mdl-21835955
13.
The promise of novel treatments for severe chronic neutropenia.
Expert Rev Hematol
; 16(12): 1025-1033, 2023.
Article
in English
| MEDLINE | ID: mdl-37978893
14.
The cellular and molecular mechanisms for neutropenia in Barth syndrome.
Eur J Haematol
; 88(3): 195-209, 2012 Mar.
Article
in English
| MEDLINE | ID: mdl-22023389
15.
Comparison of Gene Editing versus a Neutrophil Elastase Inhibitor as Potential Therapies for ELANE Neutropenia.
J Cell Immunol
; 4(1): 19-28, 2022.
Article
in English
| MEDLINE | ID: mdl-36052149
16.
Mutant allele knockout with novel CRISPR nuclease promotes myelopoiesis in ELANE neutropenia.
Mol Ther Methods Clin Dev
; 26: 119-131, 2022 Sep 08.
Article
in English
| MEDLINE | ID: mdl-35795780
17.
Elastase inhibitors as potential therapies for ELANE-associated neutropenia.
J Leukoc Biol
; 102(4): 1143-1151, 2017 10.
Article
in English
| MEDLINE | ID: mdl-28754797
18.
Neutrophil elastase and granulocyte colony-stimulating factor receptor mutation analyses and leukemia evolution in severe congenital neutropenia patients belonging to the original Kostmann family in northern Sweden.
Haematologica
; 91(5): 589-95, 2006 May.
Article
in English
| MEDLINE | ID: mdl-16670064
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