Associated Papers
Mouse models of neutropenia reveal progenitor-stage-specific defects.
Muench DE et al.
Nature, 2020
Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss.
Venugopal P et al.
Bmc Medical Genetics, 2020
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28471432 (PubMed )
Supplement: gim201750x2.xlsx › TableS2C
From cytopenia to leukemia: the role of Gfi1 and Gfi1b in blood formation.
Möröy T et al.
Blood, 2015
Pathogenic mechanisms and clinical implications of congenital neutropenia syndromes.
Hauck F et al.
Current Opinion in Allergy and Clinical Immunology, 2013
Cyclic neutropenia associated with T cell immunity to granulocyte proteases and a double de novo mutation in GFI1, a transcriptional regulator of ELANE.
Armistead PM et al.
British Journal of Haematology, 2010
Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.
Xia J et al.
British Journal of Haematology, 2009
Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2.
Person RE et al.
Nature Genetics, 2003
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