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

High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations.

European journal of human genetics : EJHG - 1 Mar 2023

Belanger Deloge Raymond, Zhao Xiaonan, Luna Pamela N, Shaw Chad A, Rosenfeld Jill A, Scott Daryl A

Abstract excerpt

Evidence suggests that genetic factors contribute to the development of anorectal malformations (ARMs). However, the etiology of the majority of ARMs cases remains unclear. Exome sequencing (ES) may be underutilized in the diagnostic workup of ARMs due to uncertainty regarding its diagnostic yield. In a clinical database of ~17,000 individuals referred for ES, we identified 130 individuals with syndromic ARMs. A...

Read the complete abstract on PubMed

Topics

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

Share to DNA Helicases
Share to Frameshift Mutation

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

Share to Microtubule-Associated Proteins

Share to Nuclear Proteins

Share to Pathology, Molecular

Share to Phenotype

Share to Rubinstein-Taybi Syndrome

Share to Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 36474027
DOI: 10.1038/s41431-022-01255-y
PMCID: PMC9995493

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations.PMID 36474027Read ↗

The Role of De Novo Variants in Formation of Human Anorectal Malformations.Semantic proximity Read ↗

Autosomal-dominant non-syndromic anal atresia: sequencing of candidate genes, array-based molecular karyotyping, and review of the literature.Semantic proximity Read ↗

Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes.Semantic proximity Read ↗

Application of Whole Exome-trio Analysis Reveals Rare Variants Associated With Congenital Pouch ColonSemantic proximity Read ↗

Whole exome-trio analysis reveals rare variants associated with Congenital Pouch ColonSemantic proximity Read ↗

Whole Exome-Trio Analysis Reveals Rare Variants Associated with Congenital Pouch ColonSemantic proximity Read ↗

Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDHSemantic proximity Read ↗

Whole exome-based variant profiling and functional network characterization in neural tube defects.Semantic proximity Read ↗

Genome-wide copy number variation study in anorectal malformations.Semantic proximity Read ↗

A Copernican revolution of multigenic analysis: A retrospective study on clinical exome sequencing in unclear genetic disordersSemantic proximity Read ↗

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.Semantic proximity Read ↗

De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations.Semantic proximity Read ↗

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