Flavie Diguet

Affiliations

Service de Génétique, Laboratoire de Cytogénétique Constitutionnelle, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron, France.

Publications (9)

Deciphering balanced translocations in infertile males by next-generation sequencing to identify candidate genes for spermatogenesis disorders.

Molecular human reproduction

Avec: T Yammine , N Reynaud , H Lejeune , F Diguet , P A Rollat-Farnier , A Labalme , I Plotton , C Farra , D Sanlaville , E Chouery , C Schluth-Bolard

Disruption and deletion of the proximal part of TCF4 are associated with mild intellectual disability: About three new patients.

European journal of medical genetics

Avec: Julie Masson , Linda Pons , Tiffany Busa , Chantal Missirian , Matthew Lines , Hélène Tevissen , Pierre-Antoine Rollat-Farnier , Gaétan Lesca , Damien Sanlaville , Caroline Schluth-Bolard

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.

Human mutation

Avec: Nicolas Chatron , Kevin Cassinari , Olivier Quenez , Stéphanie Baert-Desurmont , Claire Bardel , Marie-Pierre Buisine , Eduardo Calpena , Yline Capri , Jordi Corominas Galbany , Patrick Edery , Bertrand Isidor , Audrey Labalme , Cedric Le Caignec , Jonathan Lévy , François Lecoquierre , Pierre Lindenbaum , Olivier Pichon , Pierre-Antoine Rollat-Farnier , Thomas Simonet , Pascale Saugier-Veber , Anne-Claude Tabet , Annick Toutain , Andrew O M Wilkie , Gaetan Lesca , Damien Sanlaville , Gaël Nicolas , Caroline Schluth-Bolard

Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination.

Clinical genetics

Avec: Julie Masson , Céline Pebrel-Richard , Matthieu Egloff , Mathilde Frétigny , Marion Beaumont , Kevin Uguen , Pierre-Antoine Rollat-Farnier , Isabelle Perthus , Gwenaël Le Gudayer , Damien Haye , Marie-Noëlle Bonnet Dupeyron , Audrey Putoux , Fabienne Raskin-Champion , Marianne Till , Nicolas Chatron , Bérénice Doray , Claire Bardel , Christine Vinciguerra , Damien Sanlaville , Caroline Schluth-Bolard

Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster.

European journal of human genetics : EJHG

Avec: Cédric Le Caignec , Olivier Pichon , Annaig Briand , Benoît de Courtivron , Christian Bonnard , Pierre Lindenbaum , Richard Redon , Caroline Schluth-Bolard , Pierre-Antoine Rollat-Farnier , Marta Sanchez-Castro , Marie-Laure Vuillaume , Damien Sanlaville , Denis Duboule , André Mégarbané , Annick Toutain

Supravalvular Aortic Stenosis Caused by a Familial Chromosome 7 Inversion Disrupting the

Molecular syndromology

Avec: Linda Pons , Patrice Bouvagnet , Mohamed Bakloul , Sylvie Di Filippo , Adrien Buisson , Nicolas Chatron , Audrey Labalme , Olivier Metton , Julia Mitchell , Pierre-Antoine Rollat-Farnier , Damien Sanlaville , Caroline Schluth-Bolard

Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A.

Haemophilia : the official journal of the World Federation of Hemophilia

Avec: Yohann Jourdy , Claire Bardel , Mathilde Fretigny , Pierre-Antoine Rollat-Farnier , Marie-Laure Mathieu , Audrey Labalme , Damien Sanlaville , Patrick Edery , Christine Vinciguerra , Caroline Schluth-Bolard

A 14q distal chromoanagenesis elucidated by whole genome sequencing.

European journal of medical genetics

Avec: Flavie Ader , Solveig Heide , Pauline Marzin , Alexandra Afenjar , Sandra Chantot Bastaraud , Pierre-Antoine Rollat-Farnier , Damien Sanlaville , Marie-France Portnoï , Jean-Pierre Siffroi , Caroline Schluth-Bolard

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

Journal of medical genetics

Avec: Caroline Schluth-Bolard , Nicolas Chatron , Pierre-Antoine Rollat-Farnier , Claire Bardel , Alexandra Afenjar , Florence Amblard , Jeanne Amiel , Sophie Blesson , Patrick Callier , Yline Capri , Patrick Collignon , Marie-Pierre Cordier , Christine Coubes , Benedicte Demeer , Annabelle Chaussenot , Florence Demurger , Françoise Devillard , Martine Doco-Fenzy , Céline Dupont , Jean-Michel Dupont , Sophie Dupuis-Girod , Laurence Faivre , Brigitte Gilbert-Dussardier , Anne-Marie Guerrot , Marine Houlier , Bertrand Isidor , Sylvie Jaillard , Géraldine Joly-Hélas , Valérie Kremer , Didier Lacombe , Cédric Le Caignec , Aziza Lebbar , Marine Lebrun , Gaetan Lesca , James Lespinasse , Jonathan Levy , Valérie Malan , Michele Mathieu-Dramard , Julie Masson , Alice Masurel-Paulet , Cyril Mignot , Chantal Missirian , Fanny Morice-Picard , Sébastien Moutton , Gwenaël Nadeau , Céline Pebrel-Richard , Sylvie Odent , Véronique Paquis-Flucklinger , Laurent Pasquier , Nicole Philip , Morgane Plutino , Linda Pons , Marie-France Portnoï , Fabienne Prieur , Jacques Puechberty , Audrey Putoux , Marlène Rio , Caroline Rooryck-Thambo , Massimiliano Rossi , Catherine Sarret , Véronique Satre , Jean-Pierre Siffroi , Marianne Till , Renaud Touraine , Annick Toutain , Jérome Toutain , Stéphanie Valence , Alain Verloes , Sandra Whalen , Patrick Edery , Anne-Claude Tabet , Damien Sanlaville

Réseau de co-auteurs

Pierre-Antoine Rollat-Farnier 8 collaborations

Damien Sanlaville 8 collaborations

Caroline Schluth-Bolard 8 collaborations

Nicolas Chatron 4 collaborations

Claire Bardel 4 collaborations

Julie Masson 3 collaborations

Linda Pons 3 collaborations

Patrick Edery 3 collaborations

Audrey Labalme 3 collaborations

Annick Toutain 3 collaborations

Chantal Missirian 2 collaborations

Yline Capri 2 collaborations

Bertrand Isidor 2 collaborations

Pierre Lindenbaum 2 collaborations

Olivier Pichon 2 collaborations

Anne-Claude Tabet 2 collaborations

Gaetan Lesca 2 collaborations

Céline Pebrel-Richard 2 collaborations

Audrey Putoux 2 collaborations

Marianne Till 2 collaborations

Christine Vinciguerra 2 collaborations

Cédric Le Caignec 2 collaborations

Alexandra Afenjar 2 collaborations

Marie-France Portnoï 2 collaborations

Jean-Pierre Siffroi 2 collaborations

T Yammine 1 collaboration

N Reynaud 1 collaboration

H Lejeune 1 collaboration

F Diguet 1 collaboration

P A Rollat-Farnier 1 collaboration

A Labalme 1 collaboration

I Plotton 1 collaboration

C Farra 1 collaboration

D Sanlaville 1 collaboration

E Chouery 1 collaboration

C Schluth-Bolard 1 collaboration

Tiffany Busa 1 collaboration

Matthew Lines 1 collaboration

Hélène Tevissen 1 collaboration

Gaétan Lesca 1 collaboration

Kevin Cassinari 1 collaboration

Olivier Quenez 1 collaboration

Stéphanie Baert-Desurmont 1 collaboration

Marie-Pierre Buisine 1 collaboration

Eduardo Calpena 1 collaboration

Jordi Corominas Galbany 1 collaboration

Cedric Le Caignec 1 collaboration

Jonathan Lévy 1 collaboration

François Lecoquierre 1 collaboration

Thomas Simonet 1 collaboration

Pascale Saugier-Veber 1 collaboration

Andrew O M Wilkie 1 collaboration

Gaël Nicolas 1 collaboration

Matthieu Egloff 1 collaboration

Mathilde Frétigny 1 collaboration

Marion Beaumont 1 collaboration

Kevin Uguen 1 collaboration

Isabelle Perthus 1 collaboration

Gwenaël Le Gudayer 1 collaboration

Damien Haye 1 collaboration

Marie-Noëlle Bonnet Dupeyron 1 collaboration

Fabienne Raskin-Champion 1 collaboration

Bérénice Doray 1 collaboration

Annaig Briand 1 collaboration

Benoît de Courtivron 1 collaboration

Christian Bonnard 1 collaboration

Richard Redon 1 collaboration

Marta Sanchez-Castro 1 collaboration

Marie-Laure Vuillaume 1 collaboration

Denis Duboule 1 collaboration

André Mégarbané 1 collaboration

Patrice Bouvagnet 1 collaboration

Mohamed Bakloul 1 collaboration

Sylvie Di Filippo 1 collaboration

Adrien Buisson 1 collaboration

Olivier Metton 1 collaboration

Julia Mitchell 1 collaboration

Yohann Jourdy 1 collaboration

Mathilde Fretigny 1 collaboration

Marie-Laure Mathieu 1 collaboration

Flavie Ader 1 collaboration

Solveig Heide 1 collaboration

Pauline Marzin 1 collaboration

Sandra Chantot Bastaraud 1 collaboration

Florence Amblard 1 collaboration

Jeanne Amiel 1 collaboration

Sophie Blesson 1 collaboration

Patrick Callier 1 collaboration

Patrick Collignon 1 collaboration

Marie-Pierre Cordier 1 collaboration

Christine Coubes 1 collaboration

Benedicte Demeer 1 collaboration

Annabelle Chaussenot 1 collaboration

Florence Demurger 1 collaboration

Françoise Devillard 1 collaboration

Martine Doco-Fenzy 1 collaboration

Céline Dupont 1 collaboration

Jean-Michel Dupont 1 collaboration

Sophie Dupuis-Girod 1 collaboration

Laurence Faivre 1 collaboration

Brigitte Gilbert-Dussardier 1 collaboration

Anne-Marie Guerrot 1 collaboration

Marine Houlier 1 collaboration

Sylvie Jaillard 1 collaboration

Géraldine Joly-Hélas 1 collaboration

Valérie Kremer 1 collaboration

Didier Lacombe 1 collaboration

Aziza Lebbar 1 collaboration

Marine Lebrun 1 collaboration

James Lespinasse 1 collaboration

Jonathan Levy 1 collaboration

Valérie Malan 1 collaboration

Michele Mathieu-Dramard 1 collaboration

Alice Masurel-Paulet 1 collaboration

Cyril Mignot 1 collaboration

Fanny Morice-Picard 1 collaboration

Sébastien Moutton 1 collaboration

Gwenaël Nadeau 1 collaboration

Sylvie Odent 1 collaboration

Véronique Paquis-Flucklinger 1 collaboration

Laurent Pasquier 1 collaboration

Nicole Philip 1 collaboration

Morgane Plutino 1 collaboration

Fabienne Prieur 1 collaboration

Jacques Puechberty 1 collaboration

Marlène Rio 1 collaboration

Caroline Rooryck-Thambo 1 collaboration

Massimiliano Rossi 1 collaboration

Catherine Sarret 1 collaboration

Véronique Satre 1 collaboration

Renaud Touraine 1 collaboration

Jérome Toutain 1 collaboration

Stéphanie Valence 1 collaboration

Alain Verloes 1 collaboration

Sandra Whalen 1 collaboration