Article

Optical Genome Mapping Improves Genetic Diagnosis in Chronic Granulomatous Diseases

2022-02-22

Abstract excerpt

<title>Abstract</title> <p><bold>Purpose:</bold> Chronic granulomatous disease(CGD) is mainly caused by defects in genes encoding subunits of NADPH oxidase complex (<italic>CYBB</italic>, <italic>CYBA</italic>, <italic>NCF1</italic>, <italic>NCF2</italic>, <italic>NCF4</italic>), and its chaperone (<italic>CYBC1</italic>). Next generation sequencing has successfully identified pathogenic variants in 131 clinicall...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: e1054f6a-1c94-521c-a016-fe6c2bb080c9
DOI: 10.21203/rs.3.rs-1290086/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Optical Genome Mapping Improves Genetic Diagnosis in Chronic Granulomatous DiseasesDOI 10.21203/rs.3.rs-1290086/v1Read

Clinical, biochemical, and genetic characterization of Lebanese patients with chronic granulomatous disease due to NCF2 pathogenic variants.Semantic proximity Read

The three CYBA variants (rs4673, rs1049254 and rs1049255) are benign: new evidence from a patient with CGD.Semantic proximity Read

Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism.Semantic proximity Read

Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).Semantic proximity Read

Chronic Granulomatous Disease: Clinical and Molecular Characterization of Brazilian Patients.Semantic proximity Read

Novel mutations in unrelated Vietnamese patients with chronic granulomatous disease.Semantic proximity Read

Diagnosis of Chronic Granulomatous Disease: Strengths and Challenges in the Genomic EraSemantic proximity Read

Hematologically important mutations: X-linked chronic granulomatous disease (fourth update).Semantic proximity Read

Detection of non-DeltaGT NCF-1 mutations in chronic granulomatous disease.Semantic proximity Read

Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update).Semantic proximity Read

Approach to Molecular Diagnosis of Chronic Granulomatous Disease (CGD): an Experience from a Large Cohort of 90 Indian PatientsSemantic proximity Read

Diagnostic Modalities Based on Flow Cytometry for Chronic Granulomatous Disease: A Multicenter Study in a Well-Defined Cohort.Semantic proximity Read