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Structural Variant and Repeat Expansion Findings Identified by Optical Genome Mapping in Complex Autism Spectrum Disorder With Concomitant Neurodevelopmental Disorders.

Human mutation - 1 Jan 2026

Mutlu Mehmet Burak, Öğütlü Özge Beyza Gündoğdu, Öz Özlem, Duymuş Fahrettin, Seyhan Serhat, Tokaç Ayşe Gül Bayrak, Tezcan Esad, Öğütlü Hakan, Demiryılmaz Fatma, Silahtarlıoğlu Nurcan, Bilgil Kader, Elma Sümeyye, Erdoğan Murat, Gümüş Hakan, Kumandaş Sefer, Kılıçaslan Fethiye

Abstract excerpt

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by persistent deficits in social communication and interaction, along with restricted, repetitive patterns of behavior, interests, or activities. Single-nucleotide variants (SNVs) and structural variants (SVs), including copy-number variants (CNVs), have been reported as important contributors to the genetic basis of ASD. In this study,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42293335
DOI: 10.1155/humu/3130383
PMCID: PMC13255017

Genes

FMR1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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