9q22.3 Microdeletion Syndrome with Multiple Basal Cell Carcinomas Treated with Vismodegib: Three Key Messages in One Patient

by Alice Kieny, Valérie Kremer, Sophie Scheidecker, Dan Lipsker
Published 2017-10-01

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

Clinical, histological, and genetic characterization of PYROXD1-related myopathy

by Xavière Lornage, Vanessa Schartner, Inès Balbueno, Valérie Biancalana, Tracey Willis, Andoni Echaniz-Laguna, Sophie Scheidecker, Ros Quinlivan, Michel Fardeau, Edoardo Malfatti, Béatrice Lannes, Caroline Sewry, Norma B. Romero, Jocelyn Laporte, Johann Böhm
Published 2019-08-01

A Central Role of Telomere Dysfunction in the Formation of a Unique Translocation within the Sub-Telomere Region Resulting in Duplication and Partial Trisomy

by Radhia M’Kacher, Marguerite Miguet, Pierre-Yves Maillard, Bruno Colicchio, Sophie Scheidecker, Wala Najar, Micheline Arnoux, Noufissa Oudrhiri, Claire Borie, Margaux Biehler, Andreas Plesch, Leonhard Heidingsfelder, Annelise Bennaceur-Griscelli, Alain Dieterlen, Philippe Voisin, Steffen Junker, Patrice Carde, Eric Jeandidier
Published 2022-09-01

WGS Revealed Novel <i>BBS5</i> Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects

by Adella Karam, Clarisse Delvallée, Alejandro Estrada-Cuzcano, Véronique Geoffroy, Jean-Baptiste Lamouche, Anne-Sophie Leuvrey, Elsa Nourisson, Julien Tarabeux, Corinne Stoetzel, Sophie Scheidecker, Louise Frances Porter, Emmanuelle Génin, Richard Redon, Florian Sandron, Anne Boland, Jean-François Deleuze, Nicolas Le May, Hélène Dollfus, Jean Muller
Published 2023-05-01

Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

by Ariane Kröll‐Hermi, Frédéric Ebstein, Corinne Stoetzel, Véronique Geoffroy, Elise Schaefer, Sophie Scheidecker, Séverine Bär, Masanari Takamiya, Koichi Kawakami, Barbara A Zieba, Fouzia Studer, Valerie Pelletier, Carine Eyermann, Claude Speeg‐Schatz, Vincent Laugel, Dan Lipsker, Florian Sandron, Steven McGinn, Anne Boland, Jean‐François Deleuze, Lauriane Kuhn, Johana Chicher, Philippe Hammann, Sylvie Friant, Christelle Etard, Elke Krüger, Jean Muller, Uwe Strähle, Hélène Dollfus
Published 2020-07-01