Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.

doi:10.1038/mp.2016.84

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Article

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.

Molecular psychiatry - 1 Jun 2017

Loviglio M N, Leleu M, Männik K, Passeggeri M, Giannuzzi G, van der Werf I, Waszak S M, Zazhytska M, Roberts-Caldeira I, Gheldof N, Migliavacca E, Alfaiz A A, Hippolyte L, Maillard A M, Van Dijck A, Kooy R F, Sanlaville D, Rosenfeld J A, Shaffer L G, Andrieux J, Marshall C, Scherer S W, Shen Y, Gusella J F, Thorsteinsdottir U, Thorleifsson G, Dermitzakis E T, Deplancke B, Beckmann J S, Rougemont J, Jacquemont S, Reymond A

Abstract excerpt

Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal 16p11.2 220 kb BP2-BP3 interval showed that these rearrangements are associated with autism spectrum disorders and mirror phenotypes of obesity/underweight and macrocephaly/microcephaly. Such phenotypes were previously associated with...

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Identifiers

PMID: 27240531
DOI: 10.1038/mp.2016.84
PMCID: PMC5508252

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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