Presentation
Resources & publications
-
2019Journal (source)Am. J. Hum. Genet.TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via De...
-
Journal (source)Proc. Natl. Acad. Sci. U.S.A.
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syn...
-
2023Journal (source)Kidney Int
A wave of deep intronic mutations in X-linked Alport syndrome.
-
2023Journal (source)iScience
VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using ...
-
2023Journal (source)Clin Genet
Overcoming the challenges associated with identification of deep intronic var...
-
2022Journal (source)Hum Mutat
Targeted next-generation sequencing in a large series of fetuses with severe ...