Article

Assessment of genes involved in lysosomal diseases using the ClinGen Clinical Validity framework

2024-08-10

Abstract excerpt

Lysosomal diseases (LDs) are a heterogeneous group of rare genetic disorders that result in impaired lysosomal function, leading to progressive multiorgan system dysfunction. Accurate diagnosis is paramount to initiating targeted therapies early in the disease process in addition to providing prognostic information and appropriate support for families. In recent years, genomic sequencing technologies have become t...

Topics

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

Identifiers and source

Literature Corpus work: 6c364f28-1466-5ae0-a07c-cb662d07b978
DOI: 10.1101/2024.08.09.24311755

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Assessment of genes involved in lysosomal diseases using the ClinGen Clinical Validity frameworkDOI 10.1101/2024.08.09.24311755Read

Developing a scoring system for gene curation prioritization in lysosomal diseases.Semantic proximity Read

A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases.Semantic proximity Read

Highlights on Genomics Applications for Lysosomal Storage DiseasesSemantic proximity Read

Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants.Semantic proximity Read

Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage DisordersSemantic proximity Read

Setup and Validation of a Targeted Next-Generation Sequencing Approach for the Diagnosis of Lysosomal Storage Disorders.Semantic proximity Read

Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.Semantic proximity Read

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease RelationshipsSemantic proximity Read

Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disordersSemantic proximity Read

hLGDB: a database of human lysosomal genes and their regulationSemantic proximity Read

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disordersSemantic proximity Read

Clinical research challenges in rare genetic diseases in BrazilSemantic proximity Read