MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants.

by Kirsley Chennen, Thomas Weber, Xavière Lornage, Arnaud Kress, Johann Böhm, Julie Thompson, Jocelyn Laporte, Olivier Poch
Published 2020-01-01

Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning

by Virginie Laugel-Haushalter, Supawich Morkmued, Supawich Morkmued, Corinne Stoetzel, Véronique Geoffroy, Jean Muller, Jean Muller, Anne Boland, Jean-François Deleuze, Kirsley Chennen, Kirsley Chennen, Waranuch Pitiphat, Hélène Dollfus, Hélène Dollfus, Karen Niederreither, Karen Niederreither, Agnès Bloch-Zupan, Agnès Bloch-Zupan, Agnès Bloch-Zupan, Patimaporn Pungchanchaikul
Published 2018-09-01

A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi

by Corinne Stoetzel, Séverine Bär, Johan-Owen De Craene, Sophie Scheidecker, Christelle Etard, Johana Chicher, Jennifer R. Reck, Isabelle Perrault, Véronique Geoffroy, Kirsley Chennen, Uwe Strähle, Philippe Hammann, Sylvie Friant, Hélène Dollfus
Published 2016-11-01