Associated Papers
[Patient with severe congenital neutropenia associated with ELANE gene mutation: c.684C>G, p.Tyr228Ter].
Sotelo-de Jesús SD et al.
Revista Alergia Mexico (tecamachalco, Puebla, Mexico : 1993), 2025
Contribution of next generation sequencing to the diagnosis of inborn errors of immunity in a pediatric cohort.
Godinez-Zamora GF et al.
Frontiers in Immunology, 2025
Impact of different genetic mutations on granulocyte development and G-CSF responsiveness in congenital neutropenia.
Meng X et al.
Blood Advances, 2024
Heterogeneous genetic landscape of congenital neutropenia in Korean patients revealed by whole exome sequencing: genetic, phenotypic and histologic correlations.
Jeong D et al.
Scientific Reports, 2022
Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes.
Blombery P et al.
Haematologica, 2021
Proteome Analysis of Human Neutrophil Granulocytes From Patients With Monogenic Disease Using Data-independent Acquisition.
Grabowski P et al.
Molecular & Cellular Proteomics : Mcp, 2019
30630937 (PubMed )
Supplement: 141289_1_supp_251887_pjqfps.xlsx › Sheet1
Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis.
Skokowa J et al.
Blood, 2014
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