Présentation
Publications scientifiques
-
2023Journal (source)iScienceVNtyper enables accurate alignment-free genotyping of coding VNTR using shor...
-
2023Journal (source)Kidney Int
A wave of deep intronic mutations in X-linked Alport syndrome.
-
2023Journal (source)Kidney Int
The genetic landscape and clinical spectrum of nephronophthisis and related c...
-
2023Journal (source)Clin Genet
Overcoming the challenges associated with identification of deep intronic var...
-
Journal (source)Proc Natl Acad Sci U S A
Agonists of prostaglandin E receptors as potential first in class treatment f...
-
2021Journal (source)Sci Rep
Disruption of pathways regulated by Integrator complex in Galloway-Mowat synd...
-
Journal (source)Proc. Natl. Acad. Sci. U.S.A.
Pseudouridylation defect due to and mutations causes nephrotic syndrome wit...
-
2019Journal (source)J. Clin. Invest.
Human C-terminal CUBN variants associate with chronic proteinuria and normal ...
-
2019Journal (source)J. Inherit. Metab. Dis.
Central nervous system complications in adult cystinosis patients.
-
2019Journal (source)Nat Commun
Defects in tA tRNA modification due to GON7 and YRDC mutations lead to Gallow...
-
2019Journal (source)Am. J. Hum. Genet.
TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via De...
-
2018Journal (source)J. Biol. Chem.
Endoplasmic reticulum-retained podocin mutants are massively degraded by the ...
-
2017Journal (source)Nat. Genet.
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microc...
-
2017Journal (source)J. Am. Soc. Nephrol.
Targeted Exome Sequencing Identifies as Involved in Monogenic Congenital Ano...
-
2017Journal (source)J. Clin. Invest.
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis an...
-
2016Journal (source)PLoS Genet.
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YA...
-
2015Journal (source)Nat Commun
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule...
-
2015Journal (source)Traffic
Lysosomal Targeting of Cystinosin Requires AP-3.
-
2012Journal (source)Am J Hum Genet
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
-
2012Journal (source)Am J Hum Genet
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.