Cargando…
DNA Methylation Episignatures in Neurodevelopmental Disorders Associated with Large Structural Copy Number Variants: Clinical Implications
Large structural chromosomal deletions and duplications, referred to as copy number variants (CNVs), play a role in the pathogenesis of neurodevelopmental disorders (NDDs) through effects on gene dosage. This review focuses on our current understanding of genomic disorders that arise from large stru...
Autores principales: | Rooney, Kathleen, Sadikovic, Bekim |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9324454/ https://www.ncbi.nlm.nih.gov/pubmed/35887210 http://dx.doi.org/10.3390/ijms23147862 |
Ejemplares similares
-
Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature
por: van der Laan, Liselot, et al.
Publicado: (2023) -
Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome
por: Rooney, Kathleen, et al.
Publicado: (2021) -
Genetically unresolved case of Rauch-Steindl syndrome diagnosed by its wolf-hirschhorn associated DNA methylation episignature
por: McConkey, Haley, et al.
Publicado: (2022) -
Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs)
por: Giuili, Edoardo, et al.
Publicado: (2023) -
Diagnostic Utility of Genome-Wide DNA Methylation Analysis in Mendelian Neurodevelopmental Disorders
por: Haghshenas, Sadegheh, et al.
Publicado: (2020)