Presenting phenotype and clinical evaluation in a cohort of 22 Williams–Beuren syndrome patients

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 · 1.1K citations

Developmental Biology, Genetic Disorder, Elastin Locus +5

Prevalence Estimation of Williams Syndrome

Petter Strømme, Per G. Bjømstad, Kjersti Ramstad · Journal of Child Neurology · 2002 · 766 citations

LIM-kinase1 Hemizygosity Implicated in Impaired Visuospatial Constructive Cognition

J.Michael Frangiskakis, Amanda K. Ewart, Colleen A. Morris et al. · Cell · 1996 · 559 citations · Full text

Neuropsychology, Cognitive Science, Brain Mechanism +8

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

Michael A. Curran · Cell · 1993 · 420 citations

Genetics, Physiology, Vascular Biology +6

Novel arterial pathology in mice and humans hemizygous for elastin.

D.Y. Li, Gilles Faury, Dan Taylor et al. · Journal of Clinical Investigation · 1998 · 358 citations · Full text

Novel Arterial Pathology, Vascular Disease, Molecular Physiology +14