ArticleAmerican journal of human genetics1999
Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
54 citing papers in PubMed, 1 synthesis or guideline pooled it, 240 citations in OpenAlex.
- Neuropsychological Genotype-Phenotype in Patients with Williams Syndrome with Atypical Deletions: A Systematic Review.Neuropsychology review · 2023Pooled it
- A Del(5PNAS nexus · 2025Article
- Brain lateralization for perceiving direction of motion is reversed in Williams syndrome and related to BUD23.Scientific reports · 2025Article
- Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome.The British journal of ophthalmology · 2023Article
- DNA methylation profiles in individuals with rare, atypical 7q11.23 CNVs correlate with GTF2I and GTF2IRD1 copy number.NPJ genomic medicine · 2023Article
- Fluorescence in situ hybridization (FISH) as an irreplaceable diagnostic tool for Williams-Beuren syndrome in developing countries: a literature review.Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo · 2023Review
- Atypical deletion of Williams-Beuren syndrome reveals the mechanism of neurodevelopmental disorders.BMC medical genomics · 2022Article
- Identification and characterization of a novel ELN mutation in congenital heart disease with pulmonary artery stenosis.Scientific reports · 2021Article
- Williams syndrome.Nature reviews. Disease primers · 2021Review
- Gtf2i and Gtf2ird1 mutation do not account for the full phenotypic effect of the Williams syndrome critical region in mouse models.Human molecular genetics · 2019Article
- Article
- Genome wide array-CGH and qPCR analysis for the identification of genome defects in Williams' syndrome patients in Saudi Arabia.Molecular cytogenetics · 2016Article
- Of mice and men: molecular genetics of congenital heart disease.Cellular and molecular life sciences : CMLS · 2014Review
- Article
- Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients.Journal of neurodevelopmental disorders · 2014Article
- Williams syndrome as a model for elucidation of the pathway genes - the brain - cognitive functions: genetics and epigenetics.Acta naturae · 2014Article
- Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits.European journal of human genetics : EJHG · 2014Article
- Social cognition in williams syndrome: genotype/phenotype insights from partial deletion patients.Frontiers in psychology · 2012Article
- A role for transcription factor GTF2IRD2 in executive function in Williams-Beuren syndrome.PloS one · 2012Article
- Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype.PloS one · 2012Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
Abstract
In Williams syndrome (WS), a deletion of approximately 1.5 Mb on one copy of chromosome 7 causes specific physical, cognitive, and behavioral abnormalities. Molecular dissection of the phenotype may be a route to identification of genes important in human cognition and behavior. Among the genes known to be deleted in WS are ELN (which encodes elastin), LIMK1 (which encodes a protein tyrosine kinase expressed in the developing brain), STX1A (which encodes a component of the synaptic apparatus), and FZD3. Study of patients with deletions or mutations confined to ELN showed that hemizygosity for elastin is responsible for the cardiological features of WS. LIMK1 and STX1A are good candidates for cognitive or behavioral aspects of WS. Here we describe genetic and psychometric testing of patients who have small deletions within the WS critical region. Our results suggest that neither LIMK1 hemizygosity (contrary to a previous report) nor STX1A hemizygosity is likely to contribute to any part of the WS phenotype, and they emphasize the importance of such patients for dissecting subtle but highly penetrant phenotypes.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.