Severe Expressive-Language Delay Related to Duplication of the Williams–Beuren Locus

A forkhead-domain gene is mutated in a severe speech and language disorder

2001 • 1,949 citations

Prevalence Estimation of Williams Syndrome

2002 • 735 citations

Peabody Picture Vocabulary Test--Third Edition

1997 • 715 citations

Corners' Rating Scales-Revised

2014 • 647 citations

LIM-kinase1 Hemizygosity Implicated in Impaired Visuospatial Constructive Cognition

1996 • 554 citations

Identification of FOXP2 Truncation as a Novel Cause of Developmental Speech and Language Deficits

2005 • 406 citations

Management of Genetic Syndromes

2005 • 369 citations

Mutational Mechanisms of Williams-Beuren Syndrome Deletions

2003 • 335 citations

A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome

2001 • 329 citations

M<scp>OLECULAR</scp>M<scp>ECHANISMS FOR</scp>G<scp>ENOMIC</scp>D<scp>ISORDERS</scp>

2002 • 311 citations

Williams syndrome: Cognition, personality, and adaptive behavior

2000 • 269 citations

Conners' Parent Rating Scale--Revised

1998 • 211 citations

Human Chromosome 7: DNA Sequence and Biology

2003 • 211 citations

Williams-Beuren syndrome: a challenge for genotype-phenotype correlations

2003 • 182 citations

GTF2I hemizygosity implicated in mental retardation in Williams syndrome: Genotype–phenotype analysis of five families with deletions in the Williams syndrome region

2003 • 177 citations

DECIPHERING THE GENETIC BASIS OF SPEECH AND LANGUAGE DISORDERS

2003 • 169 citations

Chromosome 1q21.1 Contiguous Gene Deletion Is Associated With Congenital Heart Disease

2004 • 150 citations

Drawing by children with Williams syndrome: A developmental perspective

1997 • 68 citations

Comparison of TFII‐I gene family members deleted in Williams‐Beuren syndrome

2004 • 42 citations

Supernumerary ring chromosome 7 mosaicism: Case report, investigation of the gene content, and delineation of the phenotype

2004 • 22 citations

Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype

2000 • 16 citations

Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases

2004 • 8 citations