Presentation
Scientific Publications
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2023Journal (source)iScienceVNtyper enables accurate alignment-free genotyping of coding VNTR using shor...
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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)Kidney Int
The genetic landscape and clinical spectrum of nephronophthisis and related c...
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2023Journal (source)Clin Genet
Overcoming the challenges associated with identification of deep intronic var...
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2022Journal (source)Hum Mutat
Targeted next-generation sequencing in a large series of fetuses with severe ...
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2021Journal (source)Kidney Int
Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a rena...
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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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2017Journal (source)J. Am. Soc. Nephrol.
Targeted Exome Sequencing Identifies as Involved in Monogenic Congenital Ano...
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2017Journal (source)N. Engl. J. Med.
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.
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2016Journal (source)Hum. Mutat.
DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis.