Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity framework.

Molecular genetics and metabolism - 1 Jan 2019

McGlaughon Jennifer L, Pasquali Marzia, Wallace Kathleen, Ross Justyne, Senol-Cosar Ozlem, Shen Wei, Weaver Meredith A, Feigenbaum Annette, Lyon Elaine, Enns Gregory M, Mao Rong, Baudet Heather G

Abstract excerpt

Newborn screening is an incredibly useful tool for the early identification of many metabolic disorders, including fatty acid oxidation (FAO) disorders. In many cases, molecular tests are necessary to reach a final diagnosis, highlighting the need for a thorough evaluation of genes implicated in FAO disorders. Using the ClinGen (Clinical Genome Resource) clinical validity framework, thirty genes were analyzed for...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Fatty Acids
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Infant, Newborn

Share to Lipid Metabolism, Inborn Errors

Share to Neonatal Screening

Share to Oxidation-Reduction

Share to Reproducibility of Results

Source

Identifiers

PMID: 31399326
DOI: 10.1016/j.ymgme.2019.07.008

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 19 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity framework.PMID 31399326Read ↗

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.Semantic proximity Read ↗

Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome ResourceSemantic proximity Read ↗

Clinical validity of expanded carrier screening: Evaluating the gene-disease relationship in more than 200 conditions.Semantic proximity Read ↗

Clinical validity of expanded carrier screening: evaluating the gene-disease relationship in more than 200 conditionsSemantic proximity Read ↗

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

Assessment of genes involved in lysosomal diseases using the ClinGen Clinical Validity frameworkSemantic proximity Read ↗

ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene-Disease PairsSemantic proximity Read ↗

Assessing the Gene-Disease Association of 19 Genes with the RASopathies using the ClinGen Gene Curation FrameworkSemantic proximity Read ↗

Long-Chain Fatty Acid Oxidation Disorder Genes: A Comprehensive Genetic Database of LC-FAOD Variants, Genotypes, and Phenotypes.Semantic proximity Read ↗

Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and ReclassificationsSemantic proximity Read ↗

A curated gene list for reporting results of newborn genomic sequencing.Semantic proximity Read ↗

Gene-disease relationship evidence: A clinical perspective focusing on ultra-rare diseases.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.