ArticleFrontiers in genetics2021
Familial Psychosis Associated With a Missense Mutation at
Article in Frontiers in genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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Who cites it
8 citing papers in PubMed, 10 citations in OpenAlex.
- CNTN6 Modulates Slit-Robo Signaling in Cortical GABAergic Interneuron Migration.Neuroscience bulletin · 2026Article
- Role of CNTN6 in neurodevelopment and neuropathology.Frontiers in neuroscience · 2026Review
- A clinical and genotype-phenotype analysis of MACF1 variants.American journal of human genetics · 2025Article
- A Multifaceted Giant Protein Microtubule-Actin Cross-Linking Factor 1.International journal of molecular sciences · 2025Review
- A missense mutation in theJournal of medicine and life · 2024Article
- Role of microtubule actin crosslinking factor 1 (MACF1) in bipolar disorder pathophysiology and potential in lithium therapeutic mechanism.Translational psychiatry · 2023Review
- Association of theAmerican journal of translational research · 2023Article
- Exome sequencing of Japanese schizophrenia multiplex families supports the involvement of calcium ion channels.PloS one · 2022Article
Corrections and comments
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Authors and funding
16 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Psychosis is a highly heritable and heterogeneous psychiatric condition. Its genetic architecture is thought to be the result of the joint effect of common and rare variants. Families with high prevalence are an interesting approach to shed light on the rare variant's contribution without the need of collecting large cohorts. To unravel the genomic architecture of a family enriched for psychosis, with four affected individuals, we applied a system genomic approach based on karyotyping, genotyping by whole-exome sequencing to search for rare single nucleotide variants (SNVs) and SNP array to search for copy-number variants (CNVs). We identified a rare non-synonymous variant, g.39914279 C > G, in the
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.