Autism: highly heritable but not inherited
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Causal CNV are often not inherited from a parent but instead arise de novo in the germline.
“Consistent with this, these causal CNV are often not transmitted from the parent, but instead occur de novo in the germline [33, 35].”
From Genetics of autism spectrum disorders (2011) · cites this paper as [35]
Cites
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Detection of large-scale variation in the human genome
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Strong association of de novo copy number mutations with autism
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Postnatal neurodevelopmental disorders: meeting at the synapse?
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Why are autism spectrum conditions more prevalent in males?
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A double hit implicates DIAPH3 as an autism risk gene
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- Authors
- Beaudet, A. L.
- Affiliations
- Baylor College of Medicine (US)
- Corresponding author
- Beaudet, Arthur L
- ORCID
- Beaudet, Arthur L
- Venue
- Nature Medicine
- Published
- 2007-05
- Volume
- 13
- Issue
- 5
- Pages
- 534-536
- ISSN
- 1078-8956 (ISSN-L)
- 1546-170X
- OpenAlex
- W2094559869
- Cited by
- 100
- References
- 13
- Citations by year
- 2025: 4 · 2024: 2 · 2023: 1 · 2022: 2 · 2021: 2 · 2020: 4 · 2019: 7 · 2018: 4 · 2017: 7 · 2016: 3 · 2015: 7 · 2014: 6 · 2013: 1 · 2012: 6
- FWCI
- 5.49
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Medicine (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- autism spectrum disorder, heritability, autism genetics, de novo mutations, copy number variation, heredity (biology), genetic risk factors
- MeSH terms
- Autistic Disorder, Child, Female, Genes, Humans, Male, Mutation, Nucleic Acid Hybridization, Sex Chromosome Aberrations, Twins, Dizygotic, Twins, Monozygotic, Twin Studies as Topic, Oligonucleotide Array Sequence Analysis
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