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Resources & publications
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2013Journal (source)Clin GenetOFD1 mutations in males: phenotypic spectrum and ciliary basal body docking i...
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2024Journal (source)Sci Rep
Next generation phenotyping for diagnosis and phenotype-genotype correlations...
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2015Journal (source)J Med Genet
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy p...
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2018Journal (source)Hum Mol Genet
Basal exon skipping and nonsense-associated altered splicing allows bypassing...
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2022Journal (source)Hum Mutat
Targeted next-generation sequencing in a large series of fetuses with severe ...
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2023Journal (source)Kidney Int
The genetic landscape and clinical spectrum of nephronophthisis and related c...
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2018Journal (source)Hum Mol Genet
Basal exon skipping and nonsense-associated altered splicing allows bypassing...
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2009Journal (source)Hum Mutat
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotyp...
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2010Journal (source)Nat Genet
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and relat...
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2010Journal (source)J Med Genet
BBS10 mutations are common in 'Meckel'-type cystic kidneys.
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2012Journal (source)Nat Med
Gene therapy rescues cilia defects and restores olfactory function in a mamma...
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2012Journal (source)Science
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.
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2013Journal (source)Eur J Hum Genet
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome an...
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2021Journal (source)Kidney Int
Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a rena...
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2015Journal (source)J Med Genet
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy p...
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2015Journal (source)Eur J Hum Genet
Identification of a novel ARL13B variant in a Joubert syndrome-affected patie...
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2018Journal (source)Am J Med Genet A
Loss of function IFT27 variants associated with an unclassified lethal fetal ...
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2011Journal (source)Nat Genet
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
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2018Journal (source)Birth Defects Res
A neuropathological study of novel RTTN gene mutations causing a familial mic...
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2012Journal (source)Am J Hum Genet
TCTN3 mutations cause Mohr-Majewski syndrome.
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2018Journal (source)Hum Mol Genet
Basal exon skipping and nonsense-associated altered splicing allows bypassing...
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2014Journal (source)Hum Mutat
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesyl...
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2015Journal (source)J Cell Biol
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the cilia...
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2019Journal (source)Hum Mol Genet
Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes in...
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2015Journal (source)Am J Hum Genet
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus ...