Associated Papers
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Bertoli-Avella AM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33875846 (PubMed )
Supplement: 41436_2021_1159_MOESM2_ESM.xlsx › Homozygous_variants
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema H et al.
Npj Genomic Medicine, 2020
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