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Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders

Abstract:

Identification of genetic biomarkers associated with autism spectrum disorders (ASDs) could improve recurrence prediction for families with a child with ASD. Here, we describe clinical microarray findings for 253 longitudinally phenotyped ASD families from the Baby Siblings Research Consortium (BSRC), encompassing 288 infant siblings. By age 3, 103 siblings (35.8%) were diagnosed with ASD and 54 (18.8%) were developing atypically. Thirteen siblings have copy number variants (CNVs) involving A...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1038/s41467-019-13380-2

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Role:
Author
ORCID:
0000-0001-7273-4968
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Role:
Author
ORCID:
0000-0002-8324-4697
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Publisher:
Nature Research Publisher's website
Journal:
Nature Communications Journal website
Volume:
10
Article number:
5519
Publication date:
2019-12-05
Acceptance date:
2019-10-31
DOI:
EISSN:
2041-1723
Pmid:
31801954

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