Presentation
Resources & publications
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2017Journal (source)Am. J. Hum. Genet.Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
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2021Journal (source)Kidney Int
Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a rena...
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2023Journal (source)Kidney Int
A wave of deep intronic mutations in X-linked Alport syndrome.
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2023Journal (source)iScience
VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using ...
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2023Journal (source)Clin Genet
Overcoming the challenges associated with identification of deep intronic var...
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2023Journal (source)Kidney Int
The genetic landscape and clinical spectrum of nephronophthisis and related c...
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2022Journal (source)Hum Mutat
Targeted next-generation sequencing in a large series of fetuses with severe ...