Author

Russell C. Dale

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Open access Jan 2026

Multiomic Investigation of Shared Genetic Pathways in Paediatric Congenital Heart Disease and Neurodevelopmental Disorders

DNA methylation analysis revealed epigenetic differences between CHD and NDD patients, with CHD patients showing elevated biological age acceleration and the findings highlight the diagnostic and mechanistic value of integrative multiomic profiling in paediatric developmental disease cohorts.

Jamie-Lee M. Thompson, Yun-Kai Gao, Eri Iwasawa et al. · Human Mutation · 0 citations

Open access Jul 2026

Genetic testing in paediatric neurological disorders.

Exome sequencing outperforms gene panels in confirming genetic diagnoses in paediatric neurological disorders, and highlights the need for building local diagnostic genetic-testing resources.

Wafa Bani Uraba, Byoung Chan Lee, S. Mohammad et al. · Developmental Medicine & Chi... · 0 citations