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

Enza Maria Valente, Clare V. Logan, Soumaya Mougou-Zerelli, +48

Nature Genetics

Developmental BiologyMendelian DisorderGenetic DisorderGeneticsMolecular Genetics +6

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

Audrey Putoux, Sophie Thomas, Karlien L. M. Coene, +36

Nature Genetics

Developmental AnomalyMendelian DisorderKif7 MutationsGenetic DisorderGenetics +3

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, +25

Human Mutation

NeurogenomicsJoubert SyndromeLysosomal Storage DiseaseGeneticsMolecular Biology +21

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

Elle C. Roberson, William E. Dowdle, Ayşegül Ozantürk, +18

The Journal of Cell Biology

Mks Complex FormationGeneticsPathologyMolecular GeneticsCellular Physiology +16

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

Caroline Alby, Kevin Piquand, Céline Huber, +27

The American Journal of Human Genetics

Molecular Diagnostic TechniquesMendelian DisorderGenetic DisorderShort-rib Polydactyly SyndromeGenetics +7

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

Valentina Grampa, Marion Delous, Mohamad Zaidan, +23

PLoS Genetics

GeneticsRenal PathologyPathologyPrimary CiliumDisease Gene Identification +14

Novel<i>TMEM67</i>mutations and genotype-phenotype correlates in meckelin-related ciliopathies

Miriam Iannicelli, Francesco Brancati, Soumaya Mougou-Zerelli, +29

Human Mutation

<i>CC2D2A</i>mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

Soumaya Mougou-Zerelli, Sophie Thomas, Emmanuelle Szenker‐Ravi, +29

Human Mutation

Developmental AnomalyDevelopmental BiologyMendelian DisorderJoubert SyndromeBrain Malformation +13

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity

Sophie Thomas, Vincent Cantagrel, Laura Mariani, +13

European Journal of Human Genetics

Ocular DiseaseMendelian DisorderOphthalmologyGenetic DisorderGenetics +6

Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation

Caroline Alby, Valérie Malan, Lucile Boutaud, +13

Birth Defects Research Part A Clinical and Molecular Teratology