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

Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data.

American journal of medical genetics. Part A - 1 Apr 2026

Acosta Bedón Ana, Akbari Vahid, Rothstein Ralph, Inman Alexandra, Bhalla Sanjiv, An Jianghong, Friedman Jan M, Weksberg Rosanna, Boerkoel Cornelius, Jones Steven J M, Gibson William T

Abstract excerpt

A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next-Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes. Most clinical sequencing providers streamline their wet-bench workflows by sequencing the entire exome or genome, followed by targeted bioinformatic...

Read the complete abstract on PubMed

Topics

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

Share to Adrenal Insufficiency
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cholesterol Side-Chain Cleavage Enzyme

Share to Heterozygote

Share to High-Throughput Nucleotide Sequencing

Share to Mutation

Share to Pedigree

Share to Phenotype

Source

Identifiers

PMID: 41386740
DOI: 10.1002/ajmga.70008

Genes

CYP11A1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data.PMID 41386740Read ↗

Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through MissplicingSemantic proximity Read ↗

Targeted long-read sequencing identifies missing pathogenic variant in unsolved 11β-hydroxylase deficiencySemantic proximity Read ↗

Identification and functional characterization of compound heterozygous CYP11B1 gene mutations.Semantic proximity Read ↗

High-Resolution Variant Profiling of CAH-Associated Genes Using a Long-Read Sequencing AssaySemantic proximity Read ↗

Long-read sequencing resolves the clinically relevant<i>CYP21A2</i>locus, supporting a new clinical test for Congenital Adrenal HyperplasiaSemantic proximity Read ↗

A Recurrent Splice Variant Sheds Light on 11β-Hydroxylase Deficiency in a Unique Large Cohort.Semantic proximity Read ↗

Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing.Semantic proximity Read ↗

Repurposing of Diagnostic Whole Exome Sequencing Data of 1,583 Individuals for Clinical PharmacogeneticsSemantic proximity Read ↗

Genotyping in patients with congenital adrenal hyperplasia by sequencing of newborn bloodspot samples.Semantic proximity Read ↗

Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders.Semantic proximity Read ↗

Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene.Semantic proximity Read ↗

A Novel Homozygous Mutation in CYP11A1 Gene is Associated with Severe Adrenal Insufficiency in 46, XX Patient.Semantic proximity Read ↗

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