Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Arab founder variants: Contributions to clinical genomics and precision medicine.
AlAbdi L et al.
Med (new York, N.y.), 2025
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency.
Block J et al.
The New England Journal of Medicine, 2023
37342957 (PubMed )
Supplement: nejmoa2210054_appendix.pdf
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM3_ESM.xlsx › Table_S2
DNAJ Proteins in neurodegeneration: essential and protective factors.
Zarouchlioti C et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2018
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.
Patel N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
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