Associated Papers
First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases.
Lucca C et al.
Clinical Genetics, 2025
40274276 (PubMed )
Supplement: CGE-108-412-s001.pdf
Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.
Wu TH et al.
Scientific Reports, 2023
36918699 (PubMed )
Supplement: 41598_2023_31134_MOESM1_ESM.pdf
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1
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
Confirmation of Atypical Presentation With Nonprogressive Leukodystrophy in eIF2B-Related Disorders.
Scappaticci C et al.
Pediatric Neurology, 2019
Genetic and clinical heterogeneity in eIF2B-related disorder.
Maletkovic J et al.
Journal of Child Neurology, 2008
The large spectrum of eIF2B-related diseases.
Fogli A et al.
Biochemical Society Transactions, 2006
Screening for known mutations in EIF2B genes in a large panel of patients with premature ovarian failure.
Fogli A et al.
Bmc Women's Health, 2004
The effect of genotype on the natural history of eIF2B-related leukodystrophies.
Fogli A et al.
Neurology, 2004
Ovarian failure related to eukaryotic initiation factor 2B mutations.
Fogli A et al.
American Journal of Human Genetics, 2003
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