ArticleMolecular neurobiology2018
Rare Risk Variants Identification by Identity-by-Descent Mapping and Whole-Exome Sequencing Implicates Neuronal Development Pathways in Schizophrenia and Bipolar Disorder.
Article in Molecular neurobiology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
11 citing papers in PubMed, 20 citations in OpenAlex.
- Contextual fear memory impairment in Angelman syndrome model mice is associated with altered transcriptional responses.Scientific reports · 2023Article
- Mutations in genes related to myocyte contraction and ventricular septum development in non-syndromic tetralogy of Fallot.Frontiers in cardiovascular medicine · 2023Article
- Collagen VI deficiency causes behavioral abnormalities and cortical dopaminergic dysfunction.Disease models & mechanisms · 2022Article
- Genomic and neuroimaging approaches to bipolar disorder.BJPsych open · 2022Review
- Historical pursuits of the language pathway hypothesis of schizophrenia.NPJ schizophrenia · 2021Article
- MAP2 is differentially phosphorylated in schizophrenia, altering its function.Molecular psychiatry · 2021Article
- A linkage and exome study of multiplex families with bipolar disorder implicates rare coding variants of ANK3 and additional rare alleles at 10q11-q21.Journal of psychiatry & neuroscience : JPN · 2021Article
- Abnormally Methylated FMR1 in Absence of a Detectable Full Mutation in a U.S.A Patient Cohort Referred for Fragile X Testing.Scientific reports · 2019Article
- MAP2 immunoreactivity deficit is conserved across the cerebral cortex within individuals with schizophrenia.NPJ schizophrenia · 2019Article
- Discovery of rare variants implicated in schizophrenia using next-generation sequencing.Journal of translational genetics and genomics · 2019Article
- Rare compound heterozygous missenseNeuropsychiatric disease and treatment · 2019Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
Schizophrenia (SCZ) and bipolar disorder (BPD) are highly heritable disorders with an estimated co-heritability of 68%. Hundreds of common alleles have been implicated, but recently a role for rare, high-penetrant variants has been also suggested in both disorders. This study investigated a familial cohort of SCZ and BPD patients from a closed population sample, where the high recurrence of the disorders and the homogenous genetic background indicate a possible enrichment in rare risk alleles. A total of 230 subjects (161 cases, 22 unaffected relatives, and 47 controls) were genetically investigated through an innovative strategy that integrates identity-by-descent (IBD) mapping and whole-exome sequencing (WES). IBD analysis allowed to track high-risk haplotypes (IBD
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Registered trials
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