ArticleNature communications2019
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.
Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 54 citations in OpenAlex.
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- CRISPR knockout screens reveal genes and pathways essential for neuronal differentiation and implicate PEDS1 in neurodevelopment.Nature neuroscience · 2026Article
- A mouse organoid platform for modeling cerebral cortex development and cis-regulatory evolution in vitro.Developmental cell · 2025Article
- ASPEN: Robust detection of allelic dynamics in single cell RNA-seq.PLoS computational biology · 2025Article
- ASPEN: Robust detection of allelic dynamics in single cell RNA-seq.bioRxiv : the preprint server for biology · 2025Article
- The transcriptome of the olm provides insights into its evolution and gene expression.Scientific reports · 2025Article
- A new mutation of Sgms1 causes gradual hearing loss associated with a reduced endocochlear potential.Hearing research · 2024Article
- Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein.Genome biology · 2023Article
- Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.Brain : a journal of neurology · 2023Article
- [High homocysteine level promotes autophagy and apoptosis of mouse hippocampal HT22 cells through the Notch1/Hes1 signaling pathway].Nan fang yi ke da xue xue bao = Journal of Southern Medical University · 2023Article
- Dumbbell-shaped brains of Polish crested chickens as a model system for the evolution of novel brain morphologies.Journal of anatomy · 2023Article
- The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease.Nucleic acids research · 2023Article
- Structural neuroimaging phenotypes and associated molecular and genomic underpinnings in autism: a review.Frontiers in neuroscience · 2023Review
- Characterization of Two MouseInternational journal of molecular sciences · 2022Article
- Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.Brain : a journal of neurology · 2022Article
- Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development.Nature communications · 2022Article
- Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice.PLoS genetics · 2022Article
- A diffusion MRI-based spatiotemporal continuum of the embryonic mouse brain for probing gene-neuroanatomy connections.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
Corrections and comments
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Authors and funding
18 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Brain morphogenesis is an important process contributing to higher-order cognition, however our knowledge about its biological basis is largely incomplete. Here we analyze 118 neuroanatomical parameters in 1,566 mutant mouse lines and identify 198 genes whose disruptions yield NeuroAnatomical Phenotypes (NAPs), mostly affecting structures implicated in brain connectivity. Groups of functionally similar NAP genes participate in pathways involving the cytoskeleton, the cell cycle and the synapse, display distinct fetal and postnatal brain expression dynamics and importantly, their disruption can yield convergent phenotypic patterns. 17% of human unique orthologues of mouse NAP genes are known loci for cognitive dysfunction. The remaining 83% constitute a vast pool of genes newly implicated in brain architecture, providing the largest study of mouse NAP genes and pathways. This offers a complementary resource to human genetic studies and predict that many more genes could be involved in mammalian brain morphogenesis.
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