Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

Marvin B. Shapiro, Periannan Senapathy · Nucleic Acids Research · 1987 · 2.3K citations · Full text

Life Sciences, Bioinformatics, Genetics +16

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome

Amanda K. Ewart, Colleen A. Morris, Donald L. Atkinson et al. · Nature Genetics · 1993 · 1.2K citations

Life Sciences, Genetics, Molecular Genetics +12

Elastin is an essential determinant of arterial morphogenesis

Dean Y. Li, Benjamin S. Brooke, Elaine C. Davis et al. · Nature · 1998 · 781 citations

Life Sciences, Developmental Biology, Molecular Biology +14

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes

Hong‐Xiang Liu, Luca Cartegni, Michael Q. Zhang et al. · Nature Genetics · 2001 · 474 citations

Life Sciences, Genetics, Molecular Genetics +9

The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis

Michael A. Curran · Cell · 1993 · 423 citations

Medicine, Genetics, Molecular Genetics +13