Eva Faurie

Affiliations

Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France.

Publications (1)

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.

American journal of human genetics

Avec: Sébastien Küry , Frédéric Ebstein , Alice Mollé , Thomas Besnard , Ming-Kang Lee , Virginie Vignard , Tiphaine Hery , Mathilde Nizon , Grazia M S Mancini , Jacques C Giltay , Benjamin Cogné , Kirsty McWalter , Wallid Deb , Hagar Mor-Shaked , Hong Li , Rhonda E Schnur , Ingrid M Wentzensen , Anne-Sophie Denommé-Pichon , Cynthia Fourgeux , Frans W Verheijen , Eva Faurie , Rachel Schot , Cathy A Stevens , Daphne J Smits , Eileen Barr , Ruth Sheffer , Jonathan A Bernstein , Chandler L Stimach , Eliana Kovitch , Vandana Shashi , Kelly Schoch , Whitney Smith , Richard H van Jaarsveld , Anna C E Hurst , Kirstin Smith , Evan H Baugh , Suzanne G Bohm , Emílie Vyhnálková , Lukáš Ryba , Capucine Delnatte , Juanita Neira , Dominique Bonneau , Annick Toutain , Jill A Rosenfeld , Auteur inconnu , Séverine Audebert-Bellanger , Brigitte Gilbert-Dussardier , Sylvie Odent , Frédéric Laumonnier , Seth I Berger , Ann C M Smith , Franck Bourdeaut , Marc-Henri Stern , Richard Redon , Elke Krüger , Raphaël Margueron , Stéphane Bézieau , Jeremie Poschmann , Bertrand Isidor

Réseau de co-auteurs

Sébastien Küry 1 collaboration

Frédéric Ebstein 1 collaboration

Alice Mollé 1 collaboration

Thomas Besnard 1 collaboration

Ming-Kang Lee 1 collaboration

Virginie Vignard 1 collaboration

Tiphaine Hery 1 collaboration

Mathilde Nizon 1 collaboration

Grazia M S Mancini 1 collaboration

Jacques C Giltay 1 collaboration

Benjamin Cogné 1 collaboration

Kirsty McWalter 1 collaboration

Wallid Deb 1 collaboration

Hagar Mor-Shaked 1 collaboration

Hong Li 1 collaboration

Rhonda E Schnur 1 collaboration

Ingrid M Wentzensen 1 collaboration

Anne-Sophie Denommé-Pichon 1 collaboration

Cynthia Fourgeux 1 collaboration

Frans W Verheijen 1 collaboration

Rachel Schot 1 collaboration

Cathy A Stevens 1 collaboration

Daphne J Smits 1 collaboration

Eileen Barr 1 collaboration

Ruth Sheffer 1 collaboration

Jonathan A Bernstein 1 collaboration

Chandler L Stimach 1 collaboration

Eliana Kovitch 1 collaboration

Vandana Shashi 1 collaboration

Kelly Schoch 1 collaboration

Whitney Smith 1 collaboration

Richard H van Jaarsveld 1 collaboration

Anna C E Hurst 1 collaboration

Kirstin Smith 1 collaboration

Evan H Baugh 1 collaboration

Suzanne G Bohm 1 collaboration

Emílie Vyhnálková 1 collaboration

Lukáš Ryba 1 collaboration

Capucine Delnatte 1 collaboration

Juanita Neira 1 collaboration

Dominique Bonneau 1 collaboration

Annick Toutain 1 collaboration

Jill A Rosenfeld 1 collaboration

None None 1 collaboration

Séverine Audebert-Bellanger 1 collaboration

Brigitte Gilbert-Dussardier 1 collaboration

Sylvie Odent 1 collaboration

Frédéric Laumonnier 1 collaboration

Seth I Berger 1 collaboration

Ann C M Smith 1 collaboration

Franck Bourdeaut 1 collaboration

Marc-Henri Stern 1 collaboration

Richard Redon 1 collaboration

Elke Krüger 1 collaboration

Raphaël Margueron 1 collaboration

Stéphane Bézieau 1 collaboration

Jeremie Poschmann 1 collaboration

Bertrand Isidor 1 collaboration