Présentation
Ressources & publications
-
2024Journal (source)ScienceCiliopathy patient variants reveal organelle-specific functions for TUBB4B in...
-
2024Journal (source)Int J Mol Sci
Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset ...
-
2022Journal (source)JAMA Ophthalmol
Association of Missense Variants in VSX2 With a Peculiar Form of Congenital S...
-
2021Journal (source)Genes (Basel)
Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 P...
-
2020Journal (source)Am J Hum Genet
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Dis...
-
2019Journal (source)Adv Exp Med Biol
Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated wi...
-
2019Journal (source)Adv Exp Med Biol
Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusu...
-
2018Journal (source)Hum Mol Genet
Basal exon skipping and nonsense-associated altered splicing allows bypassing...
-
2018Journal (source)Hum Mutat
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurr...
-
2017Journal (source)Am J Hum Genet
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
-
Journal (source)Invest Ophthalmol Vis Sci
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Tra...
-
2016Journal (source)Nat Commun
A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release fr...
-
2015Journal (source)J Med Genet
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy p...
-
2015Journal (source)Mol Ther Nucleic Acids
Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Spl...
-
2014Journal (source)Am J Hum Genet
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical ...
-
2012Journal (source)Mol Ther Nucleic Acids
AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Co...
-
2012Journal (source)Nat Genet
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe ...
-
2012Journal (source)Am J Hum Genet
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
-
2009Journal (source)Am J Hum Genet
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive...
-
2003Journal (source)Adv Exp Med Biol
Leber congenital amaurosis--genotyping required for possible inclusion in a c...
-
2004Journal (source)Am J Hum Genet
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
-
2024Journal (source)Nat Commun
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with n...