Presentation
Resources & publications
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2019Journal (source)Am. J. Hum. Genet.TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via De...
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2019Journal (source)Nat Commun
Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Gallo...
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2019Journal (source)J. Clin. Invest.
Human C-terminal CUBN variants associate with chronic proteinuria and normal ...
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2017Journal (source)J. Clin. Invest.
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis an...
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2017Journal (source)Nat. Genet.
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microc...
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2020Journal (source)J Clin Invest
Human C-terminal CUBN variants associate with chronic proteinuria and normal ...
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2020Journal (source)Am J Transplant
Donor-targeted serotherapy as a rescue therapy for steroid-resistant acute GV...
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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...