Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein.

Authors:
Kretz PF; Wagner C; Mikhaleva A; Montillot C; Hugel S and 11 more

Journal:
Genome Biol

Publication Year: 2023

DOI:
10.1186/s13059-023-03092-8

PMCID:
PMC10647150

PMID:
37968726

Journal Information

Full Title: Genome Biol

Abbreviation: Genome Biol

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

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4/6
66.7% Transparent
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Evidence found in paper:

"the rna sequencing data generated in this study have been deposited in the ncbi's gene expression omnibus (geo) database and are accessible through geo series accession number gse243261 [ 69 ]. raw data is available in additional file 6"

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Evidence found in paper:

"Declarations Ethics approval and consent to participateThe mice were bred at the Mouse Clinical Institute under controlled light/dark cycles and were provided with food and water ad libitum. All animal procedures were carried out in accordance with the ARRIVE (Animal Research: Reporting of In Vivo Experiments) guidelines. Animal procedures were approved by the local ethics committee (Com’Eth) under the reference number 2016010717527861. Consent for publicationNot applicable. Competing interestsThe authors declare that they have no competing interests. Competing interests The authors declare that they have no competing interests."

Evidence found in paper:

"Funding This study was funded by the Swiss National Science Foundation (Ambizione grant PZ00P3_142603 to B.Y. and grant 31003A_182632 to A.R.), the ANR-10-INBS-07 PHENOMIN grant to Y.H., and the Medical Research Council Award (MR/S037667/1), and the work was supported by #NEXTGENERATIONEU (NGEU) and funded by the Ministry of University and Research (MUR), National Recovery and Resilience Plan (NRRP), project MNESYS (PE0000006) – A Multiscale integrated approach to the study of the nervous system in health and disease (DN. 1553 11.10.2022) to R.B., and by the French National Research Agency (ANR-11-PDOC-0029 and ANR-18-CE12-0009), the CEFIPRA grant no. 6503-J, the Gutenberg Circle, the grant ANR-10-LABX-0030-INRT, a French State fund managed by the Agence Nationale de la Recherche under the frame program Investissements d’Avenir ANR-10-IDEX-0002-02, and the Infrafrontier Research Infrastructure (TAOK2), to B.Y."

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Last Updated: Aug 05, 2025