Associated Papers
Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center.
Xue H et al.
Scientific Reports, 2024
Predicted deleterious variants in the human genome relevant to gene therapy with adeno-associated virus vectors.
Rostami MR et al.
Molecular Therapy. Methods & Clinical Development, 2023
38089635 (PubMed )
Supplement: mmc2.xlsx › Supplemental_Table_II
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Elucidating the pathogenesis of synchronous and metachronous tumors in a woman with endometrioid carcinomas using a whole-exome sequencing approach.
Wu RC et al.
Cold Spring Harbor Molecular Case Studies, 2017
29162652 (PubMed )
Supplement: supp_mcs.a001693_Supplemental_Table_2.xlsx › Supplementary_Table_2.txt
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