Annabelle Chaussenot

Cécile Rouzier 6 collaborations

Véronique Paquis-Flucklinger 6 collaborations

Konstantina Fragaki 5 collaborations

Sylvie Bannwarth 5 collaborations

Samira Ait-El-Mkadem Saadi 3 collaborations

Shahram Attarian 3 collaborations

Mélanie Fradin 3 collaborations

Christine Tranchant 3 collaborations

Mehdi Benkirane 3 collaborations

Cecilia Marelli 3 collaborations

Lise Larrieu 3 collaborations

Morgane Pointaux 3 collaborations

Laurent Pasquier 3 collaborations

Bertrand Isidor 3 collaborations

Pierre Labauge 3 collaborations

Michel Koenig 3 collaborations

None None 2 collaborations

Giovanni Castelnovo 2 collaborations

Cecile Acquaviva 2 collaborations

Brigitte Chabrol 2 collaborations

Marie-Claire Vincent 2 collaborations

Jacques Puechberty 2 collaborations

Caroline Rooryck-Thambo 2 collaborations

Cyril Goizet 2 collaborations

Patrick Calvas 2 collaborations

Claire Guissart 2 collaborations

Sabrina Sacconi 2 collaborations

Yosra Halleb 2 collaborations

Mathilde Renaud 2 collaborations

David Baux 2 collaborations

Jean-Marie Ravel 2 collaborations

Catherine Sarret 2 collaborations

Xavier Ayrignac 2 collaborations

Sylvie Odent 2 collaborations

Anna Castrioto 2 collaborations

Claire Ewenczyk 2 collaborations

Perrine Charles 2 collaborations

Elsa Kaphan 2 collaborations

Solène Frismand 2 collaborations

Eric Bieth 2 collaborations

Alain Verloes 2 collaborations

Christine Coubes 2 collaborations

Mathieu Anheim 2 collaborations

Gaetan Lesca 2 collaborations

Elisabeth Tournier-Lasserve 2 collaborations

Florence Riant 2 collaborations

Morgane Plutino 2 collaborations

Nicolas Chatron 2 collaborations

A Chaussenot 2 collaborations

Emmanuelle Pion 1 collaboration

Céline Bris 1 collaboration

Valérie Desquiret-Dumas 1 collaboration

Naïg Gueguen 1 collaboration

Patrizia Amati-Bonneau 1 collaboration

Giulia Barcia 1 collaboration

Pauline Gaignard 1 collaboration

Julie Steffann 1 collaboration

Alessandra Pennisi 1 collaboration

Jean-Paul Bonnefont 1 collaboration

Elise Lebigot 1 collaboration

Bruno Francou 1 collaboration

Benoit Rucheton 1 collaboration

Damien Sternberg 1 collaboration

Marie-Laure Martin-Negrier 1 collaboration

Aurélien Trimouille 1 collaboration

Gaëlle Hardy 1 collaboration

Stéphane Allouche 1 collaboration

Cécile Acquaviva-Bourdain 1 collaboration

Cécile Pagan 1 collaboration

Anne-Sophie Lebre 1 collaboration

Pascal Reynier 1 collaboration

Mireille Cossee 1 collaboration

Vincent Procaccio 1 collaboration

Daniele Mandia 1 collaboration

Gérard Besson 1 collaboration

Foudil Lamari 1 collaboration

Jonathan Curot 1 collaboration

Fanny Duval 1 collaboration

Philippe Giral 1 collaboration

Jean-Michel Lecerf 1 collaboration

Dominique Roland 1 collaboration

Heloise Pierdet 1 collaboration

Claire Douillard 1 collaboration

Yann Nadjar 1 collaboration

Valérie Serre 1 collaboration

Samira Ait-El-Mkadem 1 collaboration

Christian Richelme 1 collaboration

Valerie Serre 1 collaboration

Cecile Rouzier 1 collaboration

Veronique Paquis-Flucklinger 1 collaboration

Laure Cayrefourcq 1 collaboration

Sandra Pierredon 1 collaboration

Céline Moutou 1 collaboration

Marion Imbert-Bouteille 1 collaboration

Emmanuelle Haquet 1 collaboration

Marjolaine Willems 1 collaboration

Cathy Liautard-Haag 1 collaboration

Nicolas Molinari 1 collaboration

Cécile Zordan 1 collaboration

Virginie Dorian 1 collaboration

Amandine Boureau-Wirth 1 collaboration

Laetitia Monteil 1 collaboration

Claire Miry 1 collaboration

Romain Favre 1 collaboration

Yuliya Petrov 1 collaboration

Philippe Khau Van Kien 1 collaboration

Elsa Le Boette 1 collaboration

Catherine Alix-Panabières 1 collaboration

Elamine Zereg 1 collaboration

Godelieve Morel 1 collaboration

Marie-Hélène Soriani 1 collaboration

Aline Cano 1 collaboration

Jean Pouget 1 collaboration

Rémi Bellance 1 collaboration

Béatrice Lannes 1 collaboration

André Maues de Paula 1 collaboration

Samira Saadi Ait-El-Mkadem 1 collaboration

Bernadette Chafino 1 collaboration

Mathieu Berthet 1 collaboration

Maria Lytrivi 1 collaboration

Valérie Senée 1 collaboration

Paraskevi Salpea 1 collaboration

Federica Fantuzzi 1 collaboration

Anne Philippi 1 collaboration

Baroj Abdulkarim 1 collaboration

Toshiaki Sawatani 1 collaboration

Sandra Marín-Cañas 1 collaboration

Nathalie Pachera 1 collaboration

Anne Degavre 1 collaboration

Pratibha Singh 1 collaboration

Céline Derbois 1 collaboration

Doris Lechner 1 collaboration

Laurence Ladrière 1 collaboration

Mariana Igoillo-Esteve 1 collaboration

Cristina Cosentino 1 collaboration

Lorella Marselli 1 collaboration

Jean-François Deleuze 1 collaboration

Piero Marchetti 1 collaboration

Décio L Eizirik 1 collaboration

Marc Nicolino 1 collaboration

Cécile Julier 1 collaboration

Miriam Cnop 1 collaboration

Agathe Roubertie 1 collaboration

Elizabeth Ollagnon 1 collaboration

Ariane Choumert 1 collaboration

Frédérique Fluchère 1 collaboration

Fabienne Ory Magne 1 collaboration

Olivier Patat 1 collaboration

Idriss Bousquet 1 collaboration

Danielle Cuntz-Shadfar 1 collaboration

Anne Rolland 1 collaboration

Raoul Morales 1 collaboration

Cathy Lieutard-Haag 1 collaboration

Brice Laurens 1 collaboration

Caroline Tillikete 1 collaboration

Emilien Bernard 1 collaboration

Martial Mallaret 1 collaboration

Clarisse Carra-Dallière 1 collaboration

Pierre Meyer 1 collaboration

Lena Damaj 1 collaboration

Karine Nguyen 1 collaboration

William Camu 1 collaboration

Alexandre Eusebio 1 collaboration

Nicolas Carrière 1 collaboration

Audrey Riquet 1 collaboration

Eric Thouvenot 1 collaboration

Victoria Gonzales 1 collaboration

Emilie Carme 1 collaboration

Laurent Kremer 1 collaboration

Samira Sissaoui 1 collaboration

Nadia Bahi-Buisson 1 collaboration

Adrian Degardin 1 collaboration

Bérénice Doray 1 collaboration

Sophie Julia 1 collaboration

Ganaëlle Remerand 1 collaboration

Valerie Fraix 1 collaboration

Lydia Abou Haidar 1 collaboration

Leila Lazaro 1 collaboration

Vincent Laugel 1 collaboration

Frederic Villega 1 collaboration

Cyril Charlin 1 collaboration

Marinha Costa Moreira 1 collaboration

Tatiana Witjas 1 collaboration

Christine Francannet 1 collaboration

Ulrike Walther-Louvier 1 collaboration

Joel Fluss 1 collaboration

Sylvain Vergnet 1 collaboration

Isabelle Meunier 1 collaboration

Elise Brischoux-Boucher 1 collaboration

David Geneviève 1 collaboration

Nicolas Lebouc 1 collaboration

Jean Phillipe Azulay 1 collaboration

François Rivier 1 collaboration

Marion Bonhomme 1 collaboration

Heba Morsy 1 collaboration

Stephanie L Safgren 1 collaboration

Damian Smedley 1 collaboration

Valentina Cipriani 1 collaboration

Jean-Madeleine de Sainte-Agathe 1 collaboration

Can Ding 1 collaboration

Letizia Vestito 1 collaboration

Henri Margot 1 collaboration

Francis Ramond 1 collaboration

Jan Verheijen 1 collaboration

Emna Sansa 1 collaboration

Paola Giunti 1 collaboration

Aline Haetty 1 collaboration

Anne Bergougnoux 1 collaboration

Olivier Ardouin 1 collaboration

Charles Van Goethem 1 collaboration

Marios Hadjivassiliou 1 collaboration

Mireille Cossée 1 collaboration

Tiphaine Rouaud 1 collaboration

Oliver Bartsch 1 collaboration

William D Freeman 1 collaboration

Klaas J Wierenga 1 collaboration

Eric W Klee 1 collaboration

Jana Vandrovcova 1 collaboration

Henry Houlden 1 collaboration

Anne Debant 1 collaboration

Françoise Bergametti 1 collaboration

Geraldine Viot 1 collaboration

Christophe Verny 1 collaboration

Marie Pierre Brechard 1 collaboration

Christian Denier 1 collaboration

Paul Petit 1 collaboration

Aurélien Nouet 1 collaboration

François Viallet 1 collaboration

Dominique Hervé 1 collaboration

Valérie Biancalana 1 collaboration

John Rendu 1 collaboration

Helen Mecili 1 collaboration

Sandra Mercier 1 collaboration

Maud Michaud 1 collaboration

Marie-Christine Nougues 1 collaboration

Norma B Romero 1 collaboration

Pascale Marcorelles 1 collaboration

François Jérôme Authier 1 collaboration

Antoinette Gelot Bernabe 1 collaboration

Emmanuelle Uro-Coste 1 collaboration

Claude Cances 1 collaboration

Armelle Magot 1 collaboration

Marie-Christine Minot-Myhie 1 collaboration

Yann Péréon 1 collaboration

Julie Perrier-Boeswillwald 1 collaboration

Gilles Bretaudeau 1 collaboration

Nicolas Dondaine 1 collaboration

Alison Bouzenard 1 collaboration

Mégane Pizzimenti 1 collaboration

Bruno Eymard 1 collaboration

Ana Ferreiro 1 collaboration

Jocelyn Laporte 1 collaboration

Julien Fauré 1 collaboration

Johann Böhm 1 collaboration

Amaya Morales Jaurrieta 1 collaboration

André Maues De Paula 1 collaboration

Mounir Serag 1 collaboration

Jean-Philippe Azulay 1 collaboration

Caroline Schluth-Bolard 1 collaboration

Flavie Diguet 1 collaboration

Pierre-Antoine Rollat-Farnier 1 collaboration

Claire Bardel 1 collaboration

Alexandra Afenjar 1 collaboration

Florence Amblard 1 collaboration

Jeanne Amiel 1 collaboration

Sophie Blesson 1 collaboration

Patrick Callier 1 collaboration

Yline Capri 1 collaboration

Patrick Collignon 1 collaboration

Marie-Pierre Cordier 1 collaboration

Benedicte Demeer 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

Cédric Le Caignec 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

Julie Masson 1 collaboration

Alice Masurel-Paulet 1 collaboration

Cyril Mignot 1 collaboration

Chantal Missirian 1 collaboration

Fanny Morice-Picard 1 collaboration

Sébastien Moutton 1 collaboration

Gwenaël Nadeau 1 collaboration

Céline Pebrel-Richard 1 collaboration

Nicole Philip 1 collaboration

Linda Pons 1 collaboration

Marie-France Portnoï 1 collaboration

Fabienne Prieur 1 collaboration

Audrey Putoux 1 collaboration

Marlène Rio 1 collaboration

Massimiliano Rossi 1 collaboration

Véronique Satre 1 collaboration

Jean-Pierre Siffroi 1 collaboration

Marianne Till 1 collaboration

Renaud Touraine 1 collaboration

Annick Toutain 1 collaboration

Jérome Toutain 1 collaboration

Stéphanie Valence 1 collaboration

Sandra Whalen 1 collaboration

Patrick Edery 1 collaboration

Anne-Claude Tabet 1 collaboration

Damien Sanlaville 1 collaboration

Nadège Calmels 1 collaboration

Fabienne Ory-Magne 1 collaboration

François Tison 1 collaboration

Claire Lecocq 1 collaboration

Guillaume Pische 1 collaboration

Philippe Casenave 1 collaboration

Louise Tyvaert 1 collaboration

Nathalie Drouot 1 collaboration

Carine Bossenmeyer-Pourié 1 collaboration

Abderrahim Oussalah 1 collaboration

Jean-Louis Guéant 1 collaboration

Bruno Leheup 1 collaboration

Céline Bonnet 1 collaboration

Laëtitia Lambert 1 collaboration

Jamel Chelly 1 collaboration

C Rouzier 1 collaboration

V Paquis-Flucklinger 1 collaboration

C Liautard-Haag 1 collaboration

G Durif 1 collaboration

C VanGoethem 1 collaboration

D Baux 1 collaboration

A Louis 1 collaboration

L Cayrefourcq 1 collaboration

M Lamairia 1 collaboration

M Willems 1 collaboration

C Zordan 1 collaboration

V Dorian 1 collaboration

C Rooryck 1 collaboration

C Goizet 1 collaboration

L Monteil 1 collaboration

P Calvas 1 collaboration

C Miry 1 collaboration

R Favre 1 collaboration

E Le Boette 1 collaboration

M Fradin 1 collaboration

A F Roux 1 collaboration

M Cossée 1 collaboration

M Koenig 1 collaboration

C Alix-Panabière 1 collaboration

C Guissart 1 collaboration

M C Vincent 1 collaboration

Terry Granchon-Riolzir 1 collaboration

Affiliations

Publications (18)

Primary mitochondrial disorders and mimics: Insights from a large French cohort.

Cholic acid as a treatment for cerebrotendinous xanthomatosis in adults.

NDUFS6 related Leigh syndrome: a case report and review of the literature.

A novel variant m.8561C>T in the overlapping region of

Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule.

Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases.

DNAJC3 deficiency induces β-cell mitochondrial apoptosis and causes syndromic young-onset diabetes.

High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.

De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.

Novel CCM2 missense variants abrogating the CCM1-CCM2 interaction cause cerebral cavernous malformations.

A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course.

Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability.

A Case Report of SYNE1 Deficiency-Mimicking Mitochondrial Disease and the Value of Pangenomic Investigations.

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

Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia.

Molecular diagnosis and genetic counseling for spinal muscular atrophy (SMA).

Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach.

Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cavernous malformations.

Réseau de co-auteurs