Presentation
Resources & publications
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2019Journal (source)Hum. Mol. Genet.Human IFT52 mutations uncover a novel role for the protein in microtubule dyn...
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2019Journal (source)Nat. Genet.
The copy number variation landscape of congenital anomalies of the kidney and...
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2017Journal (source)J. Am. Soc. Nephrol.
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital...
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2017Journal (source)N. Engl. J. Med.
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.
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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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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 ...