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

RASopathies due to de novo pathogenic variants: clinical features, genetic findings and outcomes in nine neonates born with congenital heart defects.

BMC medical genomics - 24 Aug 2022

Zheng Simin, Huang Huanyang, Ma Li, Zhu Tianwen

Abstract excerpt

BACKGROUND: There are limited information available related to neonatal characteristics of RASopathies, a group of autosomal dominant syndromes with considerable phenotypic overlap. METHODS: The retrospective review revealed 9 neonates born with congenital heart defects (CHDs) and diagnosed as RASopathies due to de novo mutations (DNMs) by trio-based exome sequencing (ES) between January 2017 and December 2020....

Read the complete abstract on PubMed

Topics

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

Share to Exome Sequencing
Share to Heart Defects, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Mutation

Share to p120 GTPase Activating Protein

Share to Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 36002837
DOI: 10.1186/s12920-022-01336-3
PMCID: PMC9400306

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

RASopathies due to de novo pathogenic variants: clinical features, genetic findings and outcomes in nine neonates born with congenital heart defects.PMID 36002837Read ↗

Personalized Genetic Diagnosis of Congenital Heart Defects in NewbornsSemantic proximity Read ↗

Genetic syndromes associated with congenital heart disease.Semantic proximity Read ↗

The heart in RASopathies.Semantic proximity Read ↗

Human Genetics of Congenital Heart Defects.Semantic proximity Read ↗

The genetics of congenital heart disease… understanding and improving long-term outcomes in congenital heart disease: a review for the general cardiologist and primary care physician.Semantic proximity Read ↗

Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.Semantic proximity Read ↗

Cardiac Manifestations and Associations with Gene Mutations in Patients Diagnosed with RASopathies.Semantic proximity Read ↗

Genetics of Congenital Heart Disease.Semantic proximity Read ↗

Current and future diagnostics of congenital heart disease (CHD)Semantic proximity Read ↗

Navigating the non-coding genome in heart development and Congenital Heart DiseaseSemantic proximity Read ↗

CLINICAL TRAJECTORY AND GENETIC LANDSCAPE OF NEONATAL-ONSET HYPERTROPHIC CARDIOMYOPATHY: INSIGHTS FROM A 30-YEAR MULTICENTER COHORT STUDYSemantic proximity Read ↗

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.Semantic proximity Read ↗

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