NPJ Genom Med
NPJ Genom Med
Country: Unknown
Publisher: Unknown
Publication Period: Unknown
197
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Subject Term Count: 1
Last Updated: Aug 05, 2025
Recent Papers
View All 197 PapersA call for increased inclusivity and global representation in pharmacogenetic testing.
Kennedy A, Ma G, Manshaei R, Jobling RK, Kim RH, Lewis T, Cohn I.
A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome.
Bhérer C, Eveleigh R, Trajanoska K, St-Cyr J, Paccard A, Nadukkalam Ravindran P, Caron E, Bader Asb…
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
Stegmann JD, Kalanithy JC, Dworschak GC, Ishorst N, Mingardo E, Lopes FM, Ho YM, Grote P, Lindenber…
Characterizing the pathogenicity of genetic variants: the consequences of context.
Ciesielski TH, Sirugo G, Iyengar SK, Williams SM.
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A, Fattahi Z, Beheshtian M, Fadaee M, Vazehan R, Ahangari F, Dehdahsi S, Faraji Zonooz …
Divergent immune microenvironments in two tumor nodules from a patient with mismatch repair-deficient prostate cancer.
Bergom HE, Sena LA, Day A, Miller B, Miller CD, Lozada JR, Zorko N, Wang J, Shenderov E, Lobo FP, C…
DNA and RNA base editors can correct the majority of pathogenic single nucleotide variants.
Dadush A, Merdler-Rabinowicz R, Gorelik D, Feiglin A, Buchumenski I, Pal LR, Ben-Aroya S, Ruppin E,…
Eliciting parental preferences and values for the return of additional findings from genomic sequencing.
Goranitis I, Meng Y, Martyn M, Best S, Bouffler S, Bombard Y, Gaff C, Stark Z.
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
Kao HJ, Lin TY, Hsieh FJ, Chien JY, Yeh EC, Lin WJ, Chen YH, Ding KH, Yang Y, Chi SC, Tsai PH, Hsu …
Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants.
Liu X, Hu F, Zhang D, Li Z, He J, Zhang S, Wang Z, Zhao Y, Wu J, Liu C, Li C, Li X, Wu J.