Associated Papers
Digenic impairments of haploinsufficient genes in patients with craniosynostosis.
Yu JW et al.
Jci Insight, 2025
39989454 (PubMed )
Supplement: jciinsight-10-176985-s042.pdf
Prediction and design of transcriptional repressor domains with large-scale mutational scans and deep learning.
Valbuena R et al.
Biorxiv : the Preprint Server for Biology, 2024
Edgotype: a fundamental link between genotype and phenotype.
Sahni N et al.
Current Opinion in Genetics & Development, 2013
Coronal craniosynostosis and radial ray hypoplasia: a third report of Twist mutation in a 33 weeks fetus with diaphragmatic hernia.
Piard J et al.
European Journal of Medical Genetics, 2012
Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.
Passos-Bueno MR et al.
Frontiers of Oral Biology, 2008
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