Associated Papers
Structural and functional insights into CWC27/CWC22 heterodimer linking the exon junction complex to spliceosomes.
Busetto V et al.
Nucleic Acids Research, 2020
Richieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrum.
Bertola DR et al.
Clinical Genetics, 2018
Complexity of the 5' Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development.
Hsia GSP et al.
Frontiers in Genetics, 2018
EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome.
Miller EE et al.
Human Molecular Genetics, 2017
A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects.
Favaro FP et al.
American Journal of Human Genetics, 2014
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