Article

Oligogenic effects of 16p11.2 copy number variation on craniofacial development

2019-02-05

Abstract excerpt

A copy number variant (CNV) of 16p11.2, which encompasses 30 genes, is associated with developmental and psychiatric disorders, head size and body mass. The genetic mechanisms that underlie these associations are not understood. To elucidate the effects of genes on development, we exploited the quantitative effects of CNV on craniofacial structure in humans and model organisms. We show that reciprocal deletion and...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 84d88a3c-8467-582c-a66d-1806990eaaea
DOI: 10.1101/540732

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Oligogenic effects of 16p11.2 copy number variation on craniofacial developmentDOI 10.1101/540732Read

Zebrafish homologs of genes within 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes.Semantic proximity Read

16p12.1 deletion orthologs are expressed in motile neural crest cells and are important for regulating craniofacial development in <i>Xenopus laevis</i>Semantic proximity Read

Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts.Semantic proximity Read

Phenotypic manifestations of copy number variation in chromosome 16p13.11.Semantic proximity Read

Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disordersSemantic proximity Read

Patient Brain Organoids Identify a Link between the 16p11.2 Copy Number Variant and the RBFOX1 Gene.Semantic proximity Read

Cortical Organoids Model Early Brain Development Disrupted by 16p11.2 Copy Number Variants in AutismSemantic proximity Read

Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism.Semantic proximity Read

Phenotypes Associated with 16p11.2 Copy Number Gains and Losses at a Single Institution.Semantic proximity Read

Patient brain organoids identify a link between the 16p11.2 copy number variant and the <i>RBFOX1</i> geneSemantic proximity Read

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant.Semantic proximity Read

Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families.Semantic proximity Read