ReviewExpert reviews in molecular medicine2007
Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development.
Review in Expert reviews in molecular medicine, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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
30 citing papers in PubMed, 188 citations in OpenAlex.
- Gene editing of NCF1 loci is associated with homologous recombination and chromosomal rearrangements.Communications biology · 2024Article
- Advances in the understanding of nuclear pore complexes in human diseases.Journal of cancer research and clinical oncology · 2024Review
- Nuclear pore protein POM121 regulates subcellular localization and transcriptional activity of PPARγ.Cell death & disease · 2024Article
- Genetic analysis of right heart structure and function in 40,000 people.Nature genetics · 2022Article
- A Comparison of Adaptive Functioning Between Children With Duplication 7 Syndrome and Williams-Beuren Syndrome: A Pilot Investigation.Frontiers in psychiatry · 2022Article
- An EEG investigation of alpha and beta activity during resting states in adults with Williams syndrome.BMC psychology · 2021Article
- From enhanceropathies to the epigenetic manifold underlying human cognition.Human molecular genetics · 2019Review
- Autism Spectrum Symptomatology Among Children with Duplication 7q11.23 Syndrome.Journal of autism and developmental disorders · 2018Article
- An event related potential study of ihibitory and attentional control in Williams syndrome adults.PloS one · 2017Article
- RNA-Seq analysis of Gtf2ird1 knockout epidermal tissue provides potential insights into molecular mechanisms underpinning Williams-Beuren syndrome.BMC genomics · 2016Article
- A Loss or a Gain, Is It Not All the Same?Molecular syndromology · 2016Article
- Variation in the Williams syndrome GTF2I gene and anxiety proneness interactively affect prefrontal cortical response to aversive stimuli.Translational psychiatry · 2015Article
- Children with 7q11.23 duplication syndrome: psychological characteristics.American journal of medical genetics. Part A · 2015Article
- The role of GTF2IRD1 in the auditory pathology of Williams-Beuren Syndrome.European journal of human genetics : EJHG · 2015Article
- Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech.Journal of neurodevelopmental disorders · 2013Article
- Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome.Molecular autism · 2013Article
- GTF2IRD2 from the Williams-Beuren critical region encodes a mobile-element-derived fusion protein that antagonizes the action of its related family members.Journal of cell science · 2012Article
- Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders.Journal of autism and developmental disorders · 2012Article
- Duplication of GTF2I results in separation anxiety in mice and humans.American journal of human genetics · 2012Article
- The Williams syndrome chromosome 7q11.23 hemideletion confers hypersocial, anxious personality coupled with altered insula structure and function.Proceedings of the National Academy of Sciences of the United States of America · 2012Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
Abstract
The Williams-Beuren syndrome (WBS) locus on human chromosome 7q11.23 is flanked by complex chromosome-specific low-copy repeats that mediate recurrent genomic rearrangements of the region. Common genomic rearrangements arise through unequal meiotic recombination and result in complex but distinct behavioural and cognitive phenotypes. Deletion of 7q11.23 results in WBS, which is characterised by mild to moderate intellectual disability or learning difficulties, with relative cognitive strengths in verbal short-term memory and in language and extreme weakness in visuospatial construction, as well as anxiety, attention-deficit hyperactivity disorder and overfriendliness. By contrast, duplication results in severely delayed speech and expressive language, with relative strength in visuospatial construction. Although deletion and duplication of the WBS region have very different effects, both cause forms of language impairment and suggest that dosage-sensitive genes within the region are important for the proper development of human speech and language. The spectrum and frequency of genomic rearrangements at 7q11.23 presents an exceptional opportunity to identify gene(s) directly involved in human speech and language development.
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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.