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Strong Association of De Novo Copy Number Mutations with Autism
TLDR
Findings establish de novo germline mutation as a more significant risk factor for ASD than previously recognized.
Multicolor Spectral Karyotyping of Human Chromosomes
TLDR
Whole-genome scanning by spectral karyotyping allowed instantaneous visualization of defined emission spectra for each human chromosome after fluorescence in situ hybridization, and all human chromosomes were simultaneously identified.
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
TLDR
The updated HPO database is described, which provides annotations of 7,278 human hereditary syndromes listed in OMIM, Orphanet and DECIPHER to classes of the HPO, allowing integration of existing datasets and interoperability with multiple biomedical resources.
Chromosomal microarray versus karyotyping for prenatal diagnosis.
TLDR
In the context of prenatal diagnostic testing, chromosomal microarray analysis identified additional, clinically significant cytogenetic information as compared with karyotyping and was equally efficacious in identifying aneuploidies and unbalanced rearrangements but did not identify balanced translocations and triploidy.
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
TLDR
Linkage and copy number variation analyses implicate chromosome 11p12–p13 and neurexins, respectively, among other candidate loci, highlighting glutamate-related genes as promising candidates for contributing to ASDs.
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
TLDR
Empirical evidence of shared genetic etiology for psychiatric disorders can inform nosology and encourages the investigation of common pathophysiologies for related disorders.
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