Tania Attié-Bitach

Hum Mutat 2009

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotyp...

Nat Genet 2010

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and relat...

J Med Genet 2010

BBS10 mutations are common in 'Meckel'-type cystic kidneys.

Nat Med 2012

Gene therapy rescues cilia defects and restores olfactory function in a mamma...

Science 2012

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.

Eur J Hum Genet 2013

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome an...

Clin Genet 2013

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking i...

J Med Genet 2015

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy p...

Eur J Hum Genet 2015

Identification of a novel ARL13B variant in a Joubert syndrome-affected patie...

Am J Med Genet A 2018

Loss of function IFT27 variants associated with an unclassified lethal fetal ...

Nat Genet 2011

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

Birth Defects Res 2018

A neuropathological study of novel RTTN gene mutations causing a familial mic...

Am J Hum Genet 2012

TCTN3 mutations cause Mohr-Majewski syndrome.

Hum Mol Genet 2018

Basal exon skipping and nonsense-associated altered splicing allows bypassing...

Hum Mutat 2014

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesyl...

J Cell Biol 2015

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the cilia...

Hum Mol Genet 2019

Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes in...

Am J Hum Genet 2015

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus ...

Kidney Int 2021

Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a rena...

Brain 2017

WDR81 mutations cause extreme microcephaly and impair mitotic progression in ...