Article

Integrative multiomic analysis on single-nucleotide variants identifies candidate genes for human craniofacial malformation

2025-12-29

Abstract excerpt

Craniofacial malformation (CFM) is a congenital defect encompassing a wide range of phenotypic presentations and is largely driven by genetics. Despite the discovery of more than 300 causal genes, there are a myriad of CFM cases with unknown genetic etiology. The complex gene regulations and heterogeneous cellular interactions in the developing head complicate disease-gene identification and prenatal genetic diagn...

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Literature Corpus work: 9460ab3c-0e74-5aad-9f67-a28a6d56f1da
DOI: 10.64898/2025.12.29.696805

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