ArticleThe New England journal of medicine2005
Severe expressive-language delay related to duplication of the Williams-Beuren locus.
Article in The New England journal of medicine, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 119 papers, 1 of them a synthesis that pooled it.
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Who cites it
119 citing papers in PubMed, 1 synthesis or guideline pooled it, 315 citations in OpenAlex.
- Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.Biological psychiatry · 2014Pooled it
- Mayer-Rokitansky-Küster-Hauser syndrome associated with 7q11.23 microduplication: A case report.Global medical genetics · 2025Article
- Observational study to preliminarily characterize the audiological profile of chinese children with williams syndrome.Journal of otology · 2025Article
- Identifying Genetic Etiology in Patients with Intellectual Disability: An Experience in Public Health Services in Northeastern Brazil.Journal of pediatric genetics · 2024Article
- Loss of GTF2I promotes neuronal apoptosis and synaptic reduction in human cellular models of neurodevelopment.Cell reports · 2024Article
- Genetic interrogation for sequence and copy number variants in systemic lupus erythematosus.Frontiers in genetics · 2024Review
- Diversity and Classification of Genetic Variations in Autism Spectrum Disorder.International journal of molecular sciences · 2023Review
- Differences and similarities ofTranslational lung cancer research · 2023Article
- Deletion ofBiomedicines · 2023Article
- Atypical deletion of Williams-Beuren syndrome reveals the mechanism of neurodevelopmental disorders.BMC medical genomics · 2022Article
- Partial CHARGE syndrome with bilateral retinochoroidal colobomas associated with 7q11.23 duplication syndrome: case report.BMC ophthalmology · 2022Article
- A Comparison of Adaptive Functioning Between Children With Duplication 7 Syndrome and Williams-Beuren Syndrome: A Pilot Investigation.Frontiers in psychiatry · 2022Article
- Article
- Screening for Copy Number Variations of the 15q13.3 Hotspot inCurrent issues in molecular biology · 2021Article
- Detection of Morphological Abnormalities in Schizophrenia: An Important Step to Identify Associated Genetic Disorders or Etiologic Subtypes.International journal of molecular sciences · 2021Review
- Williams syndrome.Nature reviews. Disease primers · 2021Review
- Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype.Orphanet journal of rare diseases · 2021Article
- Molecules, Mechanisms, and Disorders of Self-Domestication: Keys for Understanding Emotional and Social Communication from an Evolutionary Perspective.Biomolecules · 2020Review
- 7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling.Brain sciences · 2020Article
- Aortic Geometry in Patients with Duplication 7q11.23 Compared to Healthy Controls.Pediatric cardiology · 2020Article
59 more citing papers are in PubMed but not listed here.
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Authors and funding
13 authors at 6 institutions in 3 countries.
Funding
Abstract
The Williams-Beuren syndrome (WBS) locus, at 7q11.23, is prone to recurrent chromosomal rearrangements, including the microdeletion that causes WBS, a multisystem condition with characteristic cardiovascular, cognitive, and behavioral features. It is hypothesized that reciprocal duplications of the WBS interval should also occur, and here we present such a case description. The most striking phenotype was a severe delay in expressive speech, in contrast to the normal articulation and fluent expressive language observed in persons with WBS. Our results suggest that specific genes at 7q11.23 are exquisitely sensitive to dosage alterations that can influence human language and visuospatial capabilities.
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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.