Novel CIC variants identified in individuals with neurodevelopmental phenotypes
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24346
Abstract: Heterozygous pathogenic variants in CIC, which encodes a transcriptional repressor, have been identified in individuals with neurodevelopmental phenotypes. To date, 11 CIC variants have been associated with the CIC‐related neurodevelopmental syndrome. Here, we describe three… read more here.
Keywords: cic; partial loss; cic variants; individuals neurodevelopmental ... See more keywords
Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery
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DOI: 10.1002/humu.24389
Abstract: Making a specific diagnosis in neurodevelopmental disorders is traditionally based on recognizing clinical features of a distinct syndrome, which guides testing of its possible genetic etiologies. Scalable frameworks for genomic diagnostics, however, have struggled to… read more here.
Keywords: analysis neurodevelopmental; phenotypes harmonization; computational analysis; harmonization empowers ... See more keywords
Neurodevelopmental Trajectories and Psychiatric Morbidity: Lessons Learned From the 22q11.2 Deletion Syndrome
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DOI: 10.1007/s11920-021-01225-z
Abstract: The 22q11.2 deletion syndrome (22q11DS) is associated with a broad spectrum of neurodevelopmental phenotypes and is the strongest known single genetic risk factor for schizophrenia. Compared to other rare structural pathogenic genetic variants, 22q11DS is… read more here.
Keywords: deletion syndrome; trajectories psychiatric; neurodevelopmental phenotypes; neurodevelopmental trajectories ... See more keywords
Genetics of monozygotic twins reveals the impact of environmental sensitivity on psychiatric and neurodevelopmental phenotypes
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DOI: 10.1038/s41562-025-02193-7
Abstract: Individual sensitivity to environmental exposures may be genetically influenced. This genotype-by-environment interplay implies differences in phenotypic variance across genotypes, but these variants have proven challenging to detect. Genome-wide association studies of monozygotic twin differences are… read more here.
Keywords: genetics; psychiatric neurodevelopmental; monozygotic twins; sensitivity ... See more keywords
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes
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DOI: 10.1093/brain/awac106
Abstract: Abstract Variants in RAC3, encoding a small GTPase RAC3 which is critical for the regulation of actin cytoskeleton and intracellular signal transduction, are associated with a rare neurodevelopmental disorder with structural brain anomalies and facial… read more here.
Keywords: brain; variant specific; corticogenesis; rac3 variants ... See more keywords
Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1
Sign Up to like & getrecommendations! Published in 2021 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a006092
Abstract: De novo pathogenic variants in CHAMP1 (chromosome alignment maintaining phosphoprotein 1), which encodes kinetochore-microtubule associated protein on 13q34, cause a rare neurodevelopmental disorder. We enrolled 14 individuals with pathogenic variants in CHAMP1 that were documented… read more here.
Keywords: pathogenic variants; neurodevelopmental phenotypes; individuals pathogenic; variants champ1 ... See more keywords