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Integrating genome and transcriptome analysis to decipher balanced structural variants in unsolved cases of neurodevelopmental disorders

IntroductionBalanced chromosomal abnormalities (BCAs) are structural variations that can underlie a wide spectrum of neurodevelopmental disorders, often remaining undetected by conventional diagnostic approaches. Whole-genome sequencing (WGS) allows for base-pair resolution of structural variants ac...

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Principais autores: Simona Mellone, Alice Spano, Denise Vurchio, Giulia Borgonovi, Alessandro Ugonotti, Giulia Paglino, Alba Bianco, Sara Ronzani, Maurizio Sciancalepore, Flavia Prodam, Amanda Papa, Maurizio Viri, Umberto Dianzani, Mara Giordano
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2025-07-01
Serier:Frontiers in Genetics
Fag:
neurodevelopmental disorders
balanced chromosomal abnormalities
CHD7
SLC20A2
EP300
RBFOX3
Online adgang:https://www.frontiersin.org/articles/10.3389/fgene.2025.1603513/full
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