Stéphanie Valence

Catherine Garel 12 collaborations

Boris Keren 11 collaborations

Cyril Mignot 9 collaborations

Lydie Burglen 9 collaborations

Alexandra Afenjar 8 collaborations

Delphine Héron 7 collaborations

Diana Rodriguez 7 collaborations

Caroline Nava 6 collaborations

Jean-Marie Jouannic 6 collaborations

Solveig Heide 5 collaborations

Sandra Whalen 5 collaborations

Gaetan Lesca 5 collaborations

Mathilde Nizon 5 collaborations

Stephanie Valence 4 collaborations

None None 4 collaborations

Eléonore Blondiaux 4 collaborations

Geneviève Quenum-Miraillet 4 collaborations

Delphine Heron 4 collaborations

Mathieu Milh 4 collaborations

Audrey Putoux 4 collaborations

Myrtille Spentchian 3 collaborations

Saskia Vande Perre 3 collaborations

Lucie Guilbaud 3 collaborations

Marie-Laure Moutard 3 collaborations

Sandra Chantot-Bastaraud 3 collaborations

Christel Depienne 3 collaborations

Julien Buratti 3 collaborations

Thierry Billette de Villemeur 3 collaborations

Christine Coubes 3 collaborations

Laurence Faivre 3 collaborations

Sylvie Odent 3 collaborations

Laurent Pasquier 3 collaborations

Marlène Rio 3 collaborations

Leila Qebibo 3 collaborations

Christelle Rougeot 3 collaborations

Estelle Colin 3 collaborations

Laurent Villard 3 collaborations

Diane Doummar 3 collaborations

Jane Juusola 2 collaborations

Laura Pisani 2 collaborations

Sarah Weckhuysen 2 collaborations

Heather C Mefford 2 collaborations

Eric Leguern 2 collaborations

C Garel 2 collaborations

Z Leibovitz 2 collaborations

S Valence 2 collaborations

K Krajden Haratz 2 collaborations

D Heron 2 collaborations

L Burglen 2 collaborations

T Lerman-Sagie 2 collaborations

Stéphanie Friszer 2 collaborations

Paul Maurice 2 collaborations

Mathilde Lefebvre 2 collaborations

Anna Gerasimenko 2 collaborations

Céline Poirsier 2 collaborations

Agnès Rastetter 2 collaborations

Vincent Des Portes 2 collaborations

Perrine Charles 2 collaborations

Laurent Mandelbrot 2 collaborations

Agnès Guet 2 collaborations

Marie Vincent 2 collaborations

Alexandra Benachi 2 collaborations

Vincent des Portes 2 collaborations

Laurent Guibaud 2 collaborations

Olivier Patat 2 collaborations

Anne Faudet 2 collaborations

Eleonore Blondiaux 2 collaborations

Sébastien Moutton 2 collaborations

Tania Attié-Bitach 2 collaborations

Jeanne Amiel 2 collaborations

Françoise Devillard 2 collaborations

Martine Doco-Fenzy 2 collaborations

Anne-Marie Guerrot 2 collaborations

Bertrand Isidor 2 collaborations

Didier Lacombe 2 collaborations

Marine Lebrun 2 collaborations

Annick Toutain 2 collaborations

Madeleine Harion 2 collaborations

Dominique Bonneau 2 collaborations

Sabine Sigaudy 2 collaborations

Lionel Van Maldergem 2 collaborations

David Dyment 2 collaborations

Erin Torti 2 collaborations

Benjamin Cogne 2 collaborations

Thomas Courtin 2 collaborations

Marwan Shinawi 2 collaborations

Kristin G Monaghan 2 collaborations

Richard E Person 2 collaborations

Rebecca Willaert 2 collaborations

Reza Maroofian 2 collaborations

Ange-Line Bruel 2 collaborations

Alfredo Brusco 2 collaborations

Anne-Sophie Denommé-Pichon 2 collaborations

Henry Houlden 2 collaborations

Michele Iacomino 2 collaborations

Vincenzo Salpietro 2 collaborations

Pasquale Striano 2 collaborations

Emanuela Argilli 2 collaborations

Elliott Sherr 2 collaborations

Giulia Barcia 2 collaborations

Farah Kanani 1 collaboration

Hannah Titheradge 1 collaboration

Nicola Cooper 1 collaboration

Frances Elmslie 1 collaboration

Melissa M Lees 1 collaboration

Carolyn McKenna 1 collaboration

Katherine Lachlan 1 collaboration

Meena Balasubramanian 1 collaboration

Camille Desprairies 1 collaboration

Hélène Maurey 1 collaboration

Suzette I Helal 1 collaboration

Hala Soliman 1 collaboration

Viviane Bouilleret 1 collaboration

Raffaella Moretti 1 collaboration

M Gafner 1 collaboration

R Oegema 1 collaboration

G M S Mancini 1 collaboration

E Bueltmann 1 collaboration

D Rodriguez 1 collaboration

T A G M Huisman 1 collaboration

M H Lequin 1 collaboration

A Arad 1 collaboration

D Kidron 1 collaboration

M Muqary 1 collaboration

L Gindes 1 collaboration

D Lev 1 collaboration

E Boltshauser 1 collaboration

Hubert Ducou le Pointe 1 collaboration

Marie Blouet 1 collaboration

Justine Chanclud 1 collaboration

Hubert Ducou Le Pointe 1 collaboration

Marie-Aricie Vekemans 1 collaboration

Mohamed Lachtar 1 collaboration

Nicolas Rive Le Gouard 1 collaboration

Romain Nicolle 1 collaboration

Antoinette Gelot 1 collaboration

Romulus Grigorescu 1 collaboration

Nicolas Derive 1 collaboration

Tania Attie-Bitach 1 collaboration

Mathilde Gras 1 collaboration

Anna C Jansen 1 collaboration

Kathelijn Keymolen 1 collaboration

Katrien Stouffs 1 collaboration

Mélanie Jennesson 1 collaboration

Aurore Curie 1 collaboration

Laurence Cuisset 1 collaboration

Toan Nguyen 1 collaboration

Olivier Picone 1 collaboration

Vassilis Tsatsaris 1 collaboration

Nadine Girard 1 collaboration

Alexandre Vivanti 1 collaboration

Lisa Frugère 1 collaboration

Corinne Mach 1 collaboration

Elodie Lejeune 1 collaboration

Valérie Olin 1 collaboration

Marta Massimello 1 collaboration

Daphné Lehalle 1 collaboration

Linda Mouthon 1 collaboration

Florence Bretelle 1 collaboration

Vassili Tsatsaris 1 collaboration

Marta Spodenkiewic 1 collaboration

Valérie Layet 1 collaboration

Rodolphe Dard 1 collaboration

Magali Gorce 1 collaboration

Claire Beneteau 1 collaboration

Marie-Amélie Rocchisanni 1 collaboration

Julien Saada 1 collaboration

Jessica Taytard 1 collaboration

Chiara Sileo 1 collaboration

Plamen Bokov 1 collaboration

Guillaume Aubertin 1 collaboration

Harriet Corvol 1 collaboration

Nicole Beydon 1 collaboration

Caroline Schluth-Bolard 1 collaboration

Flavie Diguet 1 collaboration

Nicolas Chatron 1 collaboration

Pierre-Antoine Rollat-Farnier 1 collaboration

Claire Bardel 1 collaboration

Florence Amblard 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

Annabelle Chaussenot 1 collaboration

Florence Demurger 1 collaboration

Céline Dupont 1 collaboration

Jean-Michel Dupont 1 collaboration

Sophie Dupuis-Girod 1 collaboration

Brigitte Gilbert-Dussardier 1 collaboration

Marine Houlier 1 collaboration

Sylvie Jaillard 1 collaboration

Géraldine Joly-Hélas 1 collaboration

Valérie Kremer 1 collaboration

Cédric Le Caignec 1 collaboration

Aziza Lebbar 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

Chantal Missirian 1 collaboration

Fanny Morice-Picard 1 collaboration

Gwenaël Nadeau 1 collaboration

Céline Pebrel-Richard 1 collaboration

Véronique Paquis-Flucklinger 1 collaboration

Nicole Philip 1 collaboration

Morgane Plutino 1 collaboration

Linda Pons 1 collaboration

Marie-France Portnoï 1 collaboration

Fabienne Prieur 1 collaboration

Jacques Puechberty 1 collaboration

Caroline Rooryck-Thambo 1 collaboration

Massimiliano Rossi 1 collaboration

Catherine Sarret 1 collaboration

Véronique Satre 1 collaboration

Jean-Pierre Siffroi 1 collaboration

Marianne Till 1 collaboration

Renaud Touraine 1 collaboration

Jérome Toutain 1 collaboration

Alain Verloes 1 collaboration

Patrick Edery 1 collaboration

Anne-Claude Tabet 1 collaboration

Damien Sanlaville 1 collaboration

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Malek Louha 1 collaboration

Emmanuelle Lacaze 1 collaboration

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Magali Barth 1 collaboration

Patrick Berquin 1 collaboration

Frédéric Bourdain 1 collaboration

Tiffany Busa 1 collaboration

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Cécile Laroche 1 collaboration

Julia Métreau 1 collaboration

Yaumara Perdomo Trujillo 1 collaboration

Laurine Perrin 1 collaboration

Lucile Pinson 1 collaboration

François Rivier 1 collaboration

Christel Thauvin-Robinet 1 collaboration

Ulrike Walther Louvier 1 collaboration

Olivier Labayle 1 collaboration

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Magalie Barth 1 collaboration

Newell Belnap 1 collaboration

Felix Boschann 1 collaboration

Katrien De Clercq 1 collaboration

Andrew G L Douglas 1 collaboration

Mark P Fitzgerald 1 collaboration

Nicola Foulds 1 collaboration

Ingo Helbig 1 collaboration

Katharina Held 1 collaboration

Denise Horn 1 collaboration

Annelies Janssen 1 collaboration

Angela M Kaindl 1 collaboration

Vinodh Narayanan 1 collaboration

Christina Prager 1 collaboration

Mailys Rupin-Mas 1 collaboration

Siyuan Zhao 1 collaboration

Vincent Th Ramaekers 1 collaboration

Sarah M Ruggiero 1 collaboration

Simon Thomas 1 collaboration

Tibor Rohacs 1 collaboration

Thomas Voets 1 collaboration

Joris Vriens 1 collaboration

Alice Fiévet 1 collaboration

Dorine Bellanger 1 collaboration

Lenha Mobuchon 1 collaboration

Fabienne Giuliano 1 collaboration

Catherine Dubois d'Enghien 1 collaboration

Béatrice Parfait 1 collaboration

Jean-Michel Pedespan 1 collaboration

Nathalie Auger 1 collaboration

Guillaume Rieunier 1 collaboration

Agnès Collet 1 collaboration

Dominique Stoppa-Lyonnet 1 collaboration

Marc-Henri Stern 1 collaboration

Elizabeth E Palmer 1 collaboration

Zehua Zhu 1 collaboration

Ilse J Anderson 1 collaboration

Marisa V Andrews 1 collaboration

Celia Atkinson 1 collaboration

Margaret Au 1 collaboration

Susan A Berry 1 collaboration

Kevin M Bowling 1 collaboration

Jackie Boyle 1 collaboration

Sara S Cathey 1 collaboration

Luis F Escobar 1 collaboration

Sabra Ledare Finley 1 collaboration

John M Graham 1 collaboration

Dorothy K Grange 1 collaboration

Stacy Hewson 1 collaboration

Susan M Hiatt 1 collaboration

Kathleen A Hibbs 1 collaboration

Parul Jayakar 1 collaboration

Louisa Kalsner 1 collaboration

Lise Larcher 1 collaboration

Paul R Mark 1 collaboration

Kathryn Miller 1 collaboration

G Shashidhar Pai 1 collaboration

John Pappas 1 collaboration

Gretchen Parsons 1 collaboration

Katelyn Payne 1 collaboration

Rachel Rabin 1 collaboration

Isabelle Sabatier 1 collaboration

Natasha Shur 1 collaboration

Steven A Skinner 1 collaboration

Hannah Warren 1 collaboration

Amy Crunk 1 collaboration

Ganka Douglas 1 collaboration

Benjamin D Solomon 1 collaboration

Camille Engel 1 collaboration

Geoffroy Delplancq 1 collaboration

Andrea Accogli 1 collaboration

Emanuele Agolini 1 collaboration

Fowzan S Alkuraya 1 collaboration

Valentina Baglioni 1 collaboration

Irene Bagnasco 1 collaboration

Mathilde Becmeur-Lefebvre 1 collaboration

Enrico Bertini 1 collaboration

Ingo Borggraefe 1 collaboration

Elise Brischoux-Boucher 1 collaboration

Dalal K Bubshait 1 collaboration

Christelle Cabrol 1 collaboration

Maria Roberta Cilio 1 collaboration

Marie-Coralie Cornet 1 collaboration

Olivier Danhaive 1 collaboration

Valérie Delague 1 collaboration

Marilena Carmela Di Giacomo 1 collaboration

Hartmut Engels 1 collaboration

Kirsten Cremer 1 collaboration

Marion Gérard 1 collaboration

Joseph G Gleeson 1 collaboration

Joanna Goffeney 1 collaboration

Anne Guimier 1 collaboration

Frederike L Harms 1 collaboration

Rauan Kaiyrzhanov 1 collaboration

Benjamin Kamien 1 collaboration

Ehsan Ghayoor Karimiani 1 collaboration

Dror Kraus 1 collaboration

Paul Kuentz 1 collaboration

Kerstin Kutsche 1 collaboration

Damien Lederer 1 collaboration

Lauren Massingham 1 collaboration

Déborah Morris-Rosendahl 1 collaboration

Lakshmi Nagarajan 1 collaboration

Clothilde Ormières 1 collaboration

Jennifer Neil Partlow 1 collaboration

Lynette Penney 1 collaboration

Christophe Philippe 1 collaboration

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Cathryn Poulton 1 collaboration

Ingrid Scheffer 1 collaboration

Amy Schneider 1 collaboration

Siddharth Srivastava 1 collaboration

Rachel Straussberg 1 collaboration

Enza Maria Valente 1 collaboration

Perrine Venot 1 collaboration

Antonio Vitobello 1 collaboration

Johanna Wagner 1 collaboration

Matias Wagner 1 collaboration

Maha S Zaki 1 collaboration

Federizo Zara 1 collaboration

Vahid Reza Yassaee 1 collaboration

Mohammad Miryounesi 1 collaboration

Farzad Hashemi-Gorji 1 collaboration

Mehran Beiraghi 1 collaboration

Farah Ashrafzadeh 1 collaboration

Hamid Galehdari 1 collaboration

Christopher Walsh 1 collaboration

Antonio Novelli 1 collaboration

Moritz Tacke 1 collaboration

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Yerdan Maidyrov 1 collaboration

Kairgali Koneev 1 collaboration

Chingiz Shashkin 1 collaboration

Valeria Capra 1 collaboration

Mina Zamani 1 collaboration

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Lucile Boutaud 1 collaboration

Nathalie Roux 1 collaboration

Kim Giraudat 1 collaboration

David Grevent 1 collaboration

Carolyn Le 1 collaboration

Lisa Mackenzie 1 collaboration

Linda Richards 1 collaboration

Christine L Dixon 1 collaboration

Hui Guo 1 collaboration

Oscar D Bello 1 collaboration

Jana Vandrovcova 1 collaboration

Stephanie Efthymiou 1 collaboration

Gali Heimer 1 collaboration

Moritz Hacke 1 collaboration

Julia Rankin 1 collaboration

Huma Tariq 1 collaboration

Vincent Procaccio 1 collaboration

Kshitij Mankad 1 collaboration

Andreas Lieb 1 collaboration

Sharon Chen 1 collaboration

Conceicao Bettencourt 1 collaboration

Roope Männikkö 1 collaboration

Andreea Manole 1 collaboration

Enrico Grosso 1 collaboration

Giovanni Battista Ferrero 1 collaboration

Judith Armstrong-Moron 1 collaboration

Sophie Gueden 1 collaboration

Omer Bar-Yosef 1 collaboration

Michal Tzadok 1 collaboration

Teresa Santiago-Sim 1 collaboration

Megan T Cho 1 collaboration

Yongjin Yoo 1 collaboration

Jong-Hee Chae 1 collaboration

Yingting Quan 1 collaboration

Huidan Wu 1 collaboration

Tianyun Wang 1 collaboration

Raphael A Bernier 1 collaboration

Kun Xia 1 collaboration

Alyssa Blesson 1 collaboration

Mahim Jain 1 collaboration

Mohammad M Motazacker 1 collaboration

Bregje Jaeger 1 collaboration

Amy L Schneider 1 collaboration

Katja Boysen 1 collaboration

Alison M Muir 1 collaboration

Candace T Myers 1 collaboration

Ralitza H Gavrilova 1 collaboration

Lauren Gunderson 1 collaboration

Laura Schultz-Rogers 1 collaboration

Eric W Klee 1 collaboration

Matthew Osmond 1 collaboration

Mara Parellada 1 collaboration

Cloe Llorente 1 collaboration

Javier Gonzalez-Peñas 1 collaboration

Angel Carracedo 1 collaboration

Arie Van Haeringen 1 collaboration

Claudia Ruivenkamp 1 collaboration

Rosaria Nardello 1 collaboration

Carlo Minetti 1 collaboration

Aldo Skabar 1 collaboration

Antonella Fabretto 1 collaboration

Miquel Raspall-Chaure 1 collaboration

Michael Chez 1 collaboration

Anne Tsai 1 collaboration

Emily Fassi 1 collaboration

John N Constantino 1 collaboration

Rita De Zorzi 1 collaboration

Sara Fortuna 1 collaboration

Fernando Kok 1 collaboration

Murim Choi 1 collaboration

Bruria Benzeev 1 collaboration

Federico Zara 1 collaboration

Ingrid E Scheffer 1 collaboration

Jill Clayton-Smith 1 collaboration

Alfons Macaya 1 collaboration

James E Rothman 1 collaboration

Evan E Eichler 1 collaboration

Dimitri M Kullmann 1 collaboration

Emmanuelle Cochet 1 collaboration

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Marie-Anne Barthez 1 collaboration

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Agathe Roubertie 1 collaboration

Pierre Sarda 1 collaboration

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Shuxi Liu 1 collaboration

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Charles Coutton 1 collaboration

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Laurence Colleaux 1 collaboration

Arnold Munnich 1 collaboration

Karine Poirier 1 collaboration

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Bert Callewaert 1 collaboration

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Candy Kumps 1 collaboration

Sarah Vergult 1 collaboration

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Rebecca Hernan 1 collaboration

Austin Larson 1 collaboration

Kelly Nori 1 collaboration

Sarah Stewart 1 collaboration

James Wheless 1 collaboration

Christina Kresge 1 collaboration

Beth A Pletcher 1 collaboration

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Thomas Smol 1 collaboration

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Rosemarie Smith 1 collaboration

Jennifer Morrison 1 collaboration

Patricia G Wheeler 1 collaboration

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Robert Olaso 1 collaboration

Anne Boland 1 collaboration

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Gaël Nicolas 1 collaboration

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Odette Dos-Santos 1 collaboration

Emmanuel Spanakis 1 collaboration

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Armelle Buzy 1 collaboration

Pascal Paul 1 collaboration

Christophe Henry 1 collaboration

Sandrine Valence 1 collaboration

Colette Dib 1 collaboration

Jack Pollard 1 collaboration

Sukhvinder Sidhu 1 collaboration

Jürgen Moll 1 collaboration

Laurent Debussche 1 collaboration

Iris Valtingojer 1 collaboration

R Hagege 1 collaboration

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Davide Mei 1 collaboration

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Keren Machol 1 collaboration

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Affiliations

Publications (26)

Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy.

Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 gene.

Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation.

Prenatal Imaging Findings of Pontine Tegmental Cap Dysplasia: Report of Four Cases.

Prenatal diagnosis of vermian cyst: a new type of posterior fossa cyst.

Additional evidence for the vascular disruption defect hypothesis in a novel case of brainstem disconnection syndrome.

First reports of fetal SMARCC1 related hydrocephalus.

Further characterisation of

Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.

Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation.

Severe central apnea secondary to cerebellar dysplasia in a child: look past Joubert syndrome.

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

New insights into

Gain-of-function variants in the ion channel gene

Three new cases of ataxia-telangiectasia-like disorder: No impairment of the ATM pathway, but S-phase checkpoint defect.

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

Loss-of-function variants in

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.

Patients with

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.

YAP1 is essential for malignant mesothelioma tumor maintenance.

Spectrum of brain malformations in fetuses with mild tubulinopathy.

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.

Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow-up.

Réseau de co-auteurs