ArticleHGG advances2022
Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability.
Article in HGG advances, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes.Clinical genetics · 2026Article
- GREGoR: Accelerating Genomics for Rare Diseases.ArXiv · 2024Article
- Genetic analysis of preaxial polydactyly: identification of novel variants and the role of ZRS duplications in a Chinese cohort of 102 cases.Human genetics · 2024Article
- Sall4 regulates downstream patterning genes during limb regeneration.Developmental biology · 2024Article
- Heterozygous deletion ofJournal of medical genetics · 2024Article
- NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.Genome medicine · 2024Article
- HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.Nucleic acids research · 2024Article
- Functional genomics and small molecules in mitochondrial neurodevelopmental disorders.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024Review
- The impact of the Turkish population variome on the genomic architecture of rare disease traits.Genetics in medicine open · 2024Article
- Rare variant enrichment analysis supportsHGG advances · 2023Article
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Authors and funding
30 authors.
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Abstract
Genetic heterogeneity, reduced penetrance, and variable expressivity, the latter including asymmetric body axis plane presentations, have all been described in families with congenital limb malformations (CLMs). Interfamilial and intrafamilial heterogeneity highlight the complexity of the underlying genetic pathogenesis of these developmental anomalies. Family-based genomics by exome sequencing (ES) and rare variant analyses combined with whole-genome array-based comparative genomic hybridization were implemented to investigate 18 families with limb birth defects. Eleven of 18 (61%) families revealed explanatory variants, including 7 single-nucleotide variant alleles and 3 copy number variants (CNVs), at previously reported "disease trait associated loci":
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