Nadia Elkhartoufi

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Enza Maria Valente, Clare V. Logan, Soumaya Mougou-Zerelli et al. · Nature Genetics · 2010 · 285 citations

Life Sciences, Genetics, Molecular Genetics +8

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

Audrey Putoux, Sophie Thomas, Karlien L. M. Coene et al. · Nature Genetics · 2011 · 243 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

A Homozygous<i>PDE6D</i>Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium

Sophie Thomas, Kevin J. Wright, Stéphanie Le Corre et al. · Human Mutation · 2013 · 128 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone

Elle C. Roberson, William E. Dowdle, Ayşegül Ozantürk et al. · The Journal of Cell Biology · 2015 · 108 citations · Full text

Life Sciences, Genetics, Molecular Biology +13

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

Caroline Alby, Kevin Piquand, Céline Huber et al. · The American Journal of Human Genetics · 2015 · 93 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9