WBSCR14, a putative transcription factor gene deleted in Williams-Beuren syndrome: complete characterisation of the human gene and the mouse ortholog

Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes

Marilyn Kozak · Cell · 1986 · 4.9K citations

Life Sciences, Genetics, Molecular Biology +14

2.2 Mb of contiguous nucleotide sequence from chromosome III of C. elegans

Richard K. Wilson, R. Ainscough, Kimberly Anderson et al. · Nature · 1994 · 1.5K citations

Life Sciences, Genetics, Molecular Genetics +10

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

LIM-kinase1 Hemizygosity Implicated in Impaired Visuospatial Constructive Cognition

J.Michael Frangiskakis, Amanda K. Ewart, Colleen A. Morris et al. · Cell · 1996 · 561 citations · Full text

Life Sciences, Neuroscience, Psychology +11

Williams Syndrome: Use of Chromosomal Microdeletions as a Tool to Dissect Cognitive and Physical Phenotypes

Mayada Tassabehji, Kay Metcalfe, Annette Karmiloff‐Smith et al. · The American Journal of Human Genetics · 1999 · 241 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17