• <em>WAS</em>-Related Disorders
• A high prevalence of neutrophil-specific antibodies in ELANE-mutated severe congenital neutropenia
• A humanized <em>Caenorhabditis elegans</em> model for studying pathogenic mutations in VPS45, a protein essential for membrane trafficking, associated with severe congenital neutropenia
• A humanized Caenorhabditis elegans model for studying pathogenic mutations in VPS45, a protein essential for membrane trafficking, associated with severe congenital neutropenia
• A JAGN1-associated severe congenital neutropenia zebrafish model revealed an altered G-CSFR signaling and UPR activation
• A phase 3 randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome
• A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome
• A rare case of severe congenital neutropenia with acute necrotizing enteritis and peritonitis
• Absence of Neutropenia in Patients With Early Exon Nonsense Mutations in ELANE : Clinical Evidence to Support Gene Therapy Approaches for Severe Congenital Neutropenia
• Absence of Neutropenia in Patients With Early Exon Nonsense Mutations in ELANE: Clinical Evidence to Support Gene Therapy Approaches for Severe Congenital Neutropenia
• Case Report: Characterization of known (c.607G&gt;C) and novel (c.416C&gt;G) <em>ELANE</em> mutations in two Mexican families with congenital neutropenia
• Clinical relevance of SCN and CyN induced by ELANE mutations: a systematic review
• Coexistence of Bloom Syndrome and Kostmann Disease and a Novel Mutation
• Congenital neutropenia caused by ELANE gene mutation: a case report
• Congenital Neutropenia with ELANE Gene Mutation Complicated with MPO-ANCA Positivity
• Congenital neutropenia: From lab bench to clinic bedside and back
• Correction of the pathogenic mutation in the G6PC3 gene by adenine base editing in mutant embryos
• CRISPR-Cas9n-mediated ELANE promoter editing for gene therapy of severe congenital neutropenia
• CRISPR/Cas9n-mediated ELANE promoter editing for gene therapy of severe congenital neutropenia
• Dapagliflozin and Empagliflozin in Paediatric Indications: A Systematic Review
• De Novo Deep Intron ELANE Mutation Resulting in Severe Congenital Neutropenia
• Diagnostic guidance for hereditary neutropenia in children: Narrative literature review
• Discerning clinicopathological features of congenital neutropenia syndromes: an approach to diagnostically challenging differential diagnoses
• Family Knowledge, Attitudes, and Practices Toward Severe Congenital Neutropenia
• Genetic backgrounds and clinical characteristics of congenital neutropenias in Israel
• HAX1-related congenital neutropenia: Long-term observation in paediatric and adult patients enrolled in the European branch of the Severe Chronic Neutropenia International Registry (SCNIR)
• Hematopoietic stem cell Transplantation in Children with very Early Onset Inflammatory Bowel Disease Secondary to Monogenic Disorders of immune-dysregulation
• Historical Cohort of Severe Congenital Neutropenia in Iran: Clinical Course, Laboratory Evaluation, Treatment, and Survival
• Homozygous DBF4 mutation as a cause of severe congenital neutropenia
• Human 'knockouts' of CSF3 display severe congenital neutropenia
• Impact of different genetic mutations on granulocyte development and G-CSF responsiveness in congenital neutropenia
• Individualized Treatment Approach for Rectal Adenocarcinoma in the Setting of Congenital Neutropenia
• Inherited bone marrow failure syndromes and germline predisposition to myeloid neoplasia: A practical approach for the pathologist
• Inherited bone marrow failure syndromes: phenotype as a tool for early diagnostic suspicion at a major reference center in Mexico
• iPSC modeling of stage-specific leukemogenesis reveals BAALC as a key oncogene in severe congenital neutropenia
• JAGN1 mutation with distinct clinical features; two case reports and literature review
• Liver abscess in a child with ELANE severe congenital neutropenia: Consider the possibility of a pyogenic infection
• Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency
• Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency
• Novel case of ELANE-related severe congenital neutropenia with initially normal bone marrow
• Novel ELANE Mutation Associated with a Clinical Presentation of Cyclic Neutropenia
• Novel ELANE mutation causing severe congenital neutropenia with unpredictable fluctuations in neutrophil counts
• Oral health management in children with severe congenital neutropenia with periodontitis: Case report
• Perinatal-lethal nonimmune fetal hydrops attributed to <em>MECOM</em>-associated bone marrow failure
• Prevalence and clinical expression of germ line predisposition to myeloid neoplasms in adults with marrow hypocellularity
• Prevalence and clinical expression of germline predisposition to myeloid neoplasms in adults with marrow hypocellularity
• Protein Network Alterations in G-CSF Treated Severe Congenital Neutropenia Patients and Beneficial Effects of Oral Health Intervention
• Reduced toxicity matched sibling bone marrow transplant results in excellent outcomes for severe congenital neutropenia
• Screening for ELANE, HAX1 and GFI1 gene mutations in children with neutropenia and clinical characterization of two novel mutations in ELANE gene
• Severe congenital neutropenia and liver abscess: Surgical treatment breaks the vicious cycle
• Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient
• Severe congenital neutropenia due to jagunal homolog 1 (<em>JAGN1</em>) mutation: a case report and literature review
• Severe congenital neutropenia, SRP54 pathogenicity, and a framework for surveillance
• SGLT5 is the renal transporter for 1,5-anhydroglucitol, a major player in two rare forms of neutropenia
• Successful Bone Marrow Transplantation in a Patient with Acute Myeloid Leukemia Developed from Severe Congenital Neutropenia Using Modified Chemotherapy and Conditioning Regimen for Leukemia
• Successful Hematopoietic Cell Transplantation for Infantile Primary Myelofibrosis/VPS45 Deficiency: Case Report and Review of Literature
• The Molecular and Genetic Mechanisms of Inherited Bone Marrow Failure Syndromes: The Role of Inflammatory Cytokines in Their Pathogenesis
• The paradox of autoimmunity and autoinflammation in inherited neutrophil disorders - in search of common patterns