Associated Papers
RNA Polymerase I Dysfunction Underlying Craniofacial Syndromes: Integrated Genetic Analysis Reveals Parallels to 22q11.2 Deletion Syndrome.
Silvey S et al.
Genes, 2025
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM
An ENU-induced mutation in Twist1 transactivation domain causes hindlimb polydactyly with complete penetrance and dominant-negatively impairs E2A-dependent transcription.
Chen RZ et al.
Scientific Reports, 2020
Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution.
Takenouchi T et al.
American Journal of Medical Genetics. Part A, 2018
Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.
Kim S et al.
Human Molecular Genetics, 2017
Diagnostic value of exome and whole genome sequencing in craniosynostosis.
Miller KA et al.
Journal of Medical Genetics, 2017
27884935 (PubMed )
Supplement: jmedgenet-2016-104215supp001.pdf
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