NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.
Zain DardasJawid M FatihAngad JollyMoez DawoodHaowei DuChristopher M GrochowskiEdward G JonesShalini N JhangianiXander H T WehrensPengfei LiuWeimin BiEric BoerwinkleJennifer E PoseyDonna M MuznyRichard A GibbsJames R. LupskiZeynep C AkdemirShaine Alaine MorrisPublished in: Genome medicine (2024)
Our data further support a role for rare deleterious variants in NODAL as a cause for sporadic human laterality defects, expand the repertoire of observed anatomical complexity of potential cardiovascular anomalies, and implicate an allele specific gene dosage model.
Keyphrases
- copy number
- endothelial cells
- lymph node
- neoadjuvant chemotherapy
- genome wide
- late onset
- electronic health record
- induced pluripotent stem cells
- dna methylation
- big data
- machine learning
- human health
- squamous cell carcinoma
- amyotrophic lateral sclerosis
- radiation therapy
- risk assessment
- genome wide identification
- high throughput sequencing
- climate change
- transcription factor
- data analysis
- deep learning