Associated Papers
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing.
Hou H et al.
Npj Genomic Medicine, 2025
40593860 (PubMed )
Supplement: 41525_2025_505_MOESM3_ESM.xlsx › Table_of_phenotypes
Functional Characterization of Variants in LARP7: Report of Three New Individuals With Alazami Syndrome and a Literature Review.
Ambrose A et al.
Human Mutation, 2025
40548259 (PubMed )
Supplement: 6490124.f1.zip › SupplementalTable4.xlsx › Sheet1
Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.
Rao A et al.
Bmc Medical Genomics, 2018
29980210 (PubMed )
Supplement: 12920_2018_372_MOESM1_ESM.pdf
Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency.
Holohan B et al.
Bmc Genomics, 2016
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.
Stavropoulos DJ et al.
Npj Genomic Medicine, 2016
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