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Tissue and cell-type specific molecular and functional signatures of 16p11.2 reciprocal genomic diso...

Tissue and cell-type specific molecular and functional signatures of 16p11.2 reciprocal genomic diso...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2663807639

Tissue and cell-type specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models

About this item

Full title

Tissue and cell-type specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models

Publisher

Cold Spring Harbor: Cold Spring Harbor Laboratory Press

Journal title

bioRxiv, 2022-05

Language

English

Formats

Publication information

Publisher

Cold Spring Harbor: Cold Spring Harbor Laboratory Press

More information

Scope and Contents

Contents

Recurrent deletion and duplication of ~743 kilobases of unique genomic sequence and segmental duplications at chromosome 16p11.2 underlie a reciprocal genomic disorder (RGD; OMIM 611913 and 614671) associated with neurodevelopmental and psychiatric phenotypes, including intellectual disability, autism spectrum disorder (ASD), and schizophrenia (SCZ...

Alternative Titles

Full title

Tissue and cell-type specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_journals_2663807639

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2663807639

Other Identifiers

E-ISSN

2692-8205

DOI

10.1101/2022.05.12.491670