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

Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes.

European journal of human genetics : EJHG - 1 Aug 2022

Breuer Katinka, Riedhammer Korbinian M, Müller Nicole, Schaidinger Birthe, Dombrowsky Gregor, Dittrich Sven, Zeidler Susanne, Bauer Ulrike M M, Westphal Dominik S, Meitinger Thomas, Dakal Tikam Chand, Hitz Marc-Phillip, Breuer Johannes, Reutter Heiko, Hilger Alina C, Hoefele Julia

Abstract excerpt

The birth prevalence of laterality defects is about 1.1/10,000 comprising different phenotypes ranging from situs inversus totalis to heterotaxy, mostly associated with complex congenital heart defects (CHD) and situs abnormalities such as intestinal malrotation, biliary atresia, asplenia, or polysplenia. A proportion of laterality defects arise in the context of primary ciliary dyskinesia (PCD) accompanied by...

Read the complete abstract on PubMed

Topics

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

Share to Exome
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Defects, Congenital

Share to Membrane Proteins

Share to Nucleocytoplasmic Transport Proteins

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 35474353
DOI: 10.1038/s41431-022-01100-2
PMCID: PMC9349204

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

Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes.PMID 35474353Read ↗

Investigation of the genetic and clinical features of laterality disorders in prenatal diagnosis: discovery of a novel compound heterozygous mutation in the DNAH11 gene.Semantic proximity Read ↗

Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects.Semantic proximity Read ↗

Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach.Semantic proximity Read ↗

Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approachSemantic proximity Read ↗

Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9 , PKD1L1 , MMP21 , and GDF1Semantic proximity Read ↗

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patternsSemantic proximity Read ↗

Targeted gene panel versus whole-exome sequencing for prenatally diagnosed Human laterality defectsSemantic proximity Read ↗

NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.Semantic proximity Read ↗

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.Semantic proximity Read ↗

Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.Semantic proximity Read ↗

Identification of novel candidate genes in heterotaxy syndrome patients with congenital heart diseases by whole exome sequencingSemantic proximity Read ↗

NPHP4 variants are associated with pleiotropic heart malformations.Semantic proximity Read ↗

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