Associated Papers
The genetic landscape of congenital neutropenia in Poland: summary of the nationwide screening campaign.
Bąbol-Pokora K et al.
Frontiers in Immunology, 2025
41383606 (PubMed )
Supplement: Table1.xlsx › Arkusz1
Impact of different genetic mutations on granulocyte development and G-CSF responsiveness in congenital neutropenia.
Meng X et al.
Blood Advances, 2024
Clinical relevance of SCN and CyN induced by ELANE mutations: a systematic review.
Xiao Y et al.
Frontiers in Immunology, 2024
Severe congenital neutropenia caused by ELANE gene mutation: A case report and literature review.
Wang J et al.
Medicine, 2022
ELANE neutropenia and solid tumors: Four cases from the French severe chronic neutropenia registry.
Donadieu J et al.
Pediatric Blood & Cancer, 2022
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
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › Table_S2_DBASS5_index
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
35757720 (PubMed )
Supplement: DataSheet_1.pdf
Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.
Grossi A et al.
Genes, 2021
Jeffrey's insights: Jeffrey Modell Foundation's global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease management and treatment.
Quinn J et al.
Immunologic Research, 2020
Spectrum of ELANE mutations in congenital neutropenia: a single-centre study in patients of Indian origin.
Arun AK et al.
Journal of Clinical Pathology, 2018
The diversity of mutations and clinical outcomes for ELANE-associated neutropenia.
Makaryan V et al.
Current Opinion in Hematology, 2015
Different clinical phenotypes in familial severe congenital neutropenia cases with same mutation of the ELANE gene.
Cho HK et al.
Journal of Korean Medical Science, 2014
The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.
Germeshausen M et al.
Human Mutation, 2013
Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.
Bellanné-Chantelot C et al.
Blood, 2004
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