ArticleHuman molecular genetics2015
Mosaic structural variation in children with developmental disorders.
Article in Human molecular genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 1 of them a synthesis that pooled it.
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Who cites it
36 citing papers in PubMed, 1 synthesis or guideline pooled it, 62 citations in OpenAlex.
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- Single-cell analysis of human fibrous dysplasia bone reveals a fibrotic transcriptome and GNAS variants in endothelial, perivascular, and stromal cells.American journal of human genetics · 2025Article
- Bioinformatics of germline variant discovery for rare disease diagnostics: current approaches and remaining challenges.Briefings in bioinformatics · 2024Review
- Mosaic chromosomal alterations in peripheral blood leukocytes of children in sub-Saharan Africa.Nature communications · 2023Article
- The contribution of mosaicism to genetic diseases and de novo pathogenic variants.American journal of medical genetics. Part A · 2023Article
- Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrentCell genomics · 2023Article
- Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability.European journal of human genetics : EJHG · 2023Article
- Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study.Genetics in medicine open · 2023Article
- High-level gonosomal mosaicism for a pathogenic non-coding CNV deletion of the lung-specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV.Molecular genetics & genomic medicine · 2022Article
- Integrating Genetic Structural Variations and Whole-Genome Sequencing Into Clinical Neurology.Neurology. Genetics · 2022Review
- Somatic retrotransposition in the developing rhesus macaque brain.Genome research · 2022Article
- Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset.Human genomics · 2021Article
- Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implications.Cold Spring Harbor molecular case studies · 2021Article
- Somatic copy number variants in neuropsychiatric disorders.Current opinion in genetics & development · 2021Review
- MONTAGE: a new tool for high-throughput detection of mosaic copy number variation.BMC genomics · 2021Article
- Large mosaic copy number variations confer autism risk.Nature neuroscience · 2021Article
- The role of somatic mosaicism in brain disease.Current opinion in genetics & development · 2020Review
- Mosaicism in Human Health and Disease.Annual review of genetics · 2020Review
- Article
- Properties of structural variants and short tandem repeats associated with gene expression and complex traits.Nature communications · 2020Article
Corrections and comments
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Authors and funding
29 authors at 17 institutions in 1 country.
Funding
Abstract
Delineating the genetic causes of developmental disorders is an area of active investigation. Mosaic structural abnormalities, defined as copy number or loss of heterozygosity events that are large and present in only a subset of cells, have been detected in 0.2-1.0% of children ascertained for clinical genetic testing. However, the frequency among healthy children in the community is not well characterized, which, if known, could inform better interpretation of the pathogenic burden of this mutational category in children with developmental disorders. In a case-control analysis, we compared the rate of large-scale mosaicism between 1303 children with developmental disorders and 5094 children lacking developmental disorders, using an analytical pipeline we developed, and identified a substantial enrichment in cases (odds ratio = 39.4, P-value 1.073e - 6). A meta-analysis that included frequency estimates among an additional 7000 children with congenital diseases yielded an even stronger statistical enrichment (P-value 1.784e - 11). In addition, to maximize the detection of low-clonality events in probands, we applied a trio-based mosaic detection algorithm, which detected two additional events in probands, including an individual with genome-wide suspected chimerism. In total, we detected 12 structural mosaic abnormalities among 1303 children (0.9%). Given the burden of mosaicism detected in cases, we suspected that many of the events detected in probands were pathogenic. Scrutiny of the genotypic-phenotypic relationship of each detected variant assessed that the majority of events are very likely pathogenic. This work quantifies the burden of structural mosaicism as a cause of developmental disorders.
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