Associated Papers
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
40131272 (PubMed )
Supplement: jamanetwopen-e251807-s002.xlsx › eTable1
Natural History of Leigh Syndrome: A Study of Disease Burden and Progression.
Lim AZ et al.
Annals of Neurology, 2022
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM12_ESM.xlsx › Sheet3
Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh.
Akter H et al.
Npj Genomic Medicine, 2021
Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population.
Tsang MHY et al.
Human Genomics, 2020
SURF1 mutations in Chinese patients with Leigh syndrome: Novel mutations, mutation spectrum, and the functional consequences.
Li Y et al.
Gene, 2018
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