Associated Papers
De Novo Missense Variant c.170 C > A of ELANE in a Chinese Infant with Congenital Neutropenia: Case Report and Literature Review.
Chen X et al.
Journal of Clinical Immunology, 2025
Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder.
Bhatia S et al.
European Journal of Human Genetics : Ejhg, 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
Case report: Five-year periodontal management of a patient with two novel mutation sites in ELANE-induced cyclic neutropenia.
Lao Z et al.
Frontiers in Genetics, 2022
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.
Lauhasurayotin S et al.
Npj Genomic Medicine, 2019
Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders.
Zhang J et al.
Clinical Genetics, 2016
The diversity of mutations and clinical outcomes for ELANE-associated neutropenia.
Makaryan V et al.
Current Opinion in Hematology, 2015
The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.
Germeshausen M et al.
Human Mutation, 2013
Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.
Ishikawa N et al.
Journal of Medical Genetics, 2008
Bioinformatic analysis of protein structure-function relationships: case study of leukocyte elastase (ELA2) missense mutations.
Thusberg J et al.
Human Mutation, 2006
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