Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM4_ESM.xlsx › Sheet1
Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review.
Velez-Tirado N et al.
Scandinavian Journal of Immunology, 2022
Severe Congenital Neutropenia Type 4: A Rare Disease Harboring a G6pc3 Gene Pathogenic Variant Particular to the Mexican Population.
López-Rodríguez L et al.
Revista De Investigacion Clinica; Organo Del Hospital De Enfermedades De La Nutricion, 2022
Comprehensive multi-omics analysis of G6PC3 deficiency-related congenital neutropenia with inflammatory bowel disease.
Dasouki M et al.
Iscience, 2021
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM4_ESM.xlsx › Table_S3
Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-β deficiency.
Lin SR et al.
Molecular Genetics and Metabolism, 2015
Dursun syndrome due to G6PC3 gene defect has a fluctuating pattern in all blood cell lines.
Ozgül RK et al.
Journal of Clinical Immunology, 2014
A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family.
Alangari AA et al.
Journal of Clinical Immunology, 2013
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