ArticleEvolutionary applications2009
Genomic sister-disorders of neurodevelopment: an evolutionary approach.
Article in Evolutionary applications, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 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
18 citing papers in PubMed, 36 citations in OpenAlex.
- Mental Health, Mitochondria, and the Battle of the Sexes.Biomedicines · 2021Review
- The behavioural phenotype of Potocki-Lupski syndrome: a cross-syndrome comparison.Journal of neurodevelopmental disorders · 2018Article
- Genomic trade-offs: are autism and schizophrenia the steep price of the human brain?Human genetics · 2018Article
- Overview of Social Cognitive Dysfunctions in Rare Developmental Syndromes With Psychiatric Phenotype.Frontiers in pediatrics · 2018Review
- Why what juveniles do matters in the evolution of cooperative breeding.Human nature (Hawthorne, N.Y.) · 2014Article
- The insectan apes.Human nature (Hawthorne, N.Y.) · 2014Article
- Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability.Molecular cytogenetics · 2014Article
- Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly.Molecular syndromology · 2013Article
- A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men.PLoS genetics · 2012Article
- Autism, language and communication in children with sex chromosome trisomies.Archives of disease in childhood · 2011Article
- The emergence of human-evolutionary medical genomics.Evolutionary applications · 2011Article
- Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models.PLoS biology · 2010Article
- Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.Journal of medical genetics · 2010Article
- Editorial: 2009 in review.Evolutionary applications · 2010Article
- Evolution in health and medicine Sackler colloquium: Comparative genomics of autism and schizophrenia.Proceedings of the National Academy of Sciences of the United States of America · 2010Review
- Colloquium papers: Numbering the hairs on our heads: the shared challenge and promise of phenomics.Proceedings of the National Academy of Sciences of the United States of America · 2010Review
- Editorial: evolutionary medicine special issue.Evolutionary applications · 2009Article
- DUF1220 domains, cognitive disease, and human brain evolution.Cold Spring Harbor symposia on quantitative biology · 2009Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genomic sister-disorders are defined here as diseases mediated by duplications versus deletions of the same region. Such disorders can provide unique information concerning the genomic underpinnings of human neurodevelopment because effects of diametric variation in gene copy number on cognitive and behavioral phenotypes can be inferred. We describe evidence from the literature on deletions versus duplications for the regions underlying the best-known human neurogenetic sister-disorders, including Williams syndrome, Velocardiofacial syndrome, and Smith-Magenis syndrome, as well as the X-chromosomal conditions Klinefelter and Turner syndromes. These data suggest that diametric copy-number alterations can, like diametric alterations to imprinted genes, generate contrasting phenotypes associated with autistic-spectrum and psychotic-spectrum conditions. Genomically based perturbations to the development of the human social brain are thus apparently mediated to a notable degree by effects of variation in gene copy number. We also conducted the first analyses of positive selection for genes in the regions affected by these disorders. We found evidence consistent with adaptive evolution of protein-coding genes, or selective sweeps, for three of the four sets of sister-syndromes analyzed. These studies of selection facilitate identification of candidate genes for the phenotypes observed and lend a novel evolutionary dimension to the analysis of human cognitive architecture and neurogenetic disorders.
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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.