Sequence of the twist gene and nuclear localization of its protein in endomesodermal cells of early Drosophila embryos.

Bernard Thisse, Corinne Stoetzel, C. Gorostiza-Thisse, +1

The EMBO Journal

BiologyChromatinDevelopmental BiologyEarly Drosophila EmbryosDevelopmental Genetics +8

AnnotSV: an integrated tool for structural variations annotation

Véronique Geoffroy, Yvan Herenger, Arnaud Kress, +4

Bioinformatics

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

Carmen C. Leitch, Norann A. Zaghloul, Erica E. Davis, +11

Nature Genetics

Syndromic Encephalocele GenesDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics +7

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

Moumita Chaki, Rannar Airik, Amiya K. Ghosh, +69

Cell

Genome InstabilityLinking Renal CiliopathiesCep164 MutationsGeneticsGenomic Mechanism +4

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

Edgar A. Otto, Toby W. Hurd, Rannar Airik, +52

Nature Genetics

Ocular DiseaseRetinaOphthalmologyMedicinePathology +4

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

Corinne Stoetzel, Virginie Laurier, Erica E. Davis, +32

Nature Genetics

Protein FunctionVertebrate-specific Chaperonin-like ProteinProtein FoldingGeneticsMedicine +7

The M-twist gene of Mus is expressed in subsets of mesodermal cells and is closely related to the Xenopus X-twi and the Drosophila twist genes

Catherine Wolf, Christine Thisse, Corinne Stoetzel, +3

Developmental Biology

Developmental BiologyM-twist GeneDevelopmental GeneticsGeneticsDrosophila Twist Genes +6

Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome

Corinne Stoetzel, Jean Muller, Virginie Laurier, +19

The American Journal of Human Genetics

Protein FunctionGenetic DisorderNatural SciencesGeneticsChaperonin-related Proteins +7

Sequence-specific transactivation of the Drosophila twist gene by the dorsal gene product

Christine Thisse, Fabienne Perrin‐Schmitt, Corinne Stoetzel, +1

Cell

Transcriptional RegulationDevelopmental BiologyDevelopmental GeneticsGeneticsSequence-specific Transactivation +8

Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation

Vincent Marion, Corinne Stoetzel, Dominique Schlicht, +6

Proceedings of the National Academy of Sciences

Metabolic DisorderGeneticsCellular PhysiologyInsulin SignalingObesity +20