Hubert Journel

Cyril Mignot 6 collaborations

Christèle Dubourg 6 collaborations

Boris Keren 5 collaborations

Mélanie Fradin 5 collaborations

Delphine Héron 4 collaborations

Julien Buratti 3 collaborations

Mathieu Milh 3 collaborations

Patrick Edery 3 collaborations

Christine Barnerias 3 collaborations

Fadi F Hamdan 3 collaborations

Caroline Lacoste 3 collaborations

Jacques L Michaud 3 collaborations

Arnold Munnich 3 collaborations

Chloé Quelin 3 collaborations

Laurent Villard 3 collaborations

Gaetan Lesca 3 collaborations

Bertrand Isidor 3 collaborations

Didier Lacombe 3 collaborations

Laurence Faivre 3 collaborations

Alexandra Afenjar 3 collaborations

Sylvie Odent 3 collaborations

Aoife C McMahon 2 collaborations

Claire Bar 2 collaborations

Philippe M Campeau 2 collaborations

Claire Davidson 2 collaborations

Caroline Nava 2 collaborations

Marie-Line Jacquemont 2 collaborations

Marilyn Tallot 2 collaborations

Pauline Marzin 2 collaborations

Giulia Barcia 2 collaborations

Claude Besmond 2 collaborations

Thierry Bienvenu 2 collaborations

Ange-Line Bruel 2 collaborations

Ledia Brunga 2 collaborations

Berten Ceulemans 2 collaborations

Christine Coubes 2 collaborations

Ana G Cristancho 2 collaborations

Fiona Cunningham 2 collaborations

Marie-Bertille Dehouck 2 collaborations

Elizabeth J Donner 2 collaborations

Bénédicte Duban-Bedu 2 collaborations

Elena Gardella 2 collaborations

Julie Gauthier 2 collaborations

David Geneviève 2 collaborations

Stéphanie Gobin-Limballe 2 collaborations

Ethan M Goldberg 2 collaborations

Eveline Hagebeuk 2 collaborations

Miroslava Hančárová 2 collaborations

Laurence Hubert 2 collaborations

Christine Ioos 2 collaborations

Shoji Ichikawa 2 collaborations

Sandra Janssens 2 collaborations

Anna Kaminska 2 collaborations

Marije Koopmans 2 collaborations

Petra Laššuthová 2 collaborations

Damien Lederer 2 collaborations

Daphné Lehalle 2 collaborations

Dragan Marjanovic 2 collaborations

Julia Métreau 2 collaborations

Kathryn Miller 2 collaborations

Berge A Minassian 2 collaborations

Joannella Morales 2 collaborations

Marie-Laure Moutard 2 collaborations

Xilma R Ortiz-Gonzalez 2 collaborations

Jean-Marc Pinard 2 collaborations

Darina Prchalová 2 collaborations

Audrey Putoux 2 collaborations

Alyssa R Rosen 2 collaborations

Joelle Roume 2 collaborations

Elsa Rossignol 2 collaborations

Marleen E H Simon 2 collaborations

Thomas Smol 2 collaborations

Natasha Shur 2 collaborations

Ivan Shelihan 2 collaborations

Katalin Štěrbová 2 collaborations

Emílie Vyhnálková 2 collaborations

Catheline Vilain 2 collaborations

Julie Soblet 2 collaborations

Guillaume Smits 2 collaborations

Samuel P Yang 2 collaborations

Jasper J van der Smagt 2 collaborations

Peter M van Hasselt 2 collaborations

Marjan van Kempen 2 collaborations

Sarah Weckhuysen 2 collaborations

Ingo Helbig 2 collaborations

Bobby Koeleman 2 collaborations

Rikke S Møller 2 collaborations

Katherine L Helbig 2 collaborations

Rima Nabbout 2 collaborations

Nienke E Verbeek 2 collaborations

Christel Depienne 2 collaborations

Anne-Laure Mosca-Boidron 2 collaborations

Christophe Philippe 2 collaborations

Yannis Duffourd 2 collaborations

Bénédicte Gérard 2 collaborations

Christine Francannet 2 collaborations

Fanny Laffargue 2 collaborations

Laetitia Gouas 2 collaborations

Olivier Pichon 2 collaborations

Cédric Le Caignec 2 collaborations

Dominique Martin 2 collaborations

Klaus Dieterich 2 collaborations

Anne-Sophie Denommé-Pichon 2 collaborations

Sandrine Passemard 2 collaborations

Claire Beneteau 2 collaborations

James Lespinasse 2 collaborations

Annick Toutain 2 collaborations

Diane Doummar 2 collaborations

André Reis 2 collaborations

Christiane Zweier 2 collaborations

Mathilde Nizon 2 collaborations

Jill Clayton-Smith 2 collaborations

Laurent Pasquier 2 collaborations

Claude Cances 2 collaborations

Florence Petit 2 collaborations

Aurélien Juven 1 collaboration

Sophie Nambot 1 collaboration

Amélie Piton 1 collaboration

Nolwenn Jean-Marçais 1 collaboration

Alice Masurel 1 collaboration

Patrick Callier 1 collaboration

Nathalie Marle 1 collaboration

Paul Kuentz 1 collaboration

Martin Chevarin 1 collaboration

Elodie Gautier 1 collaboration

Marlène Rio 1 collaboration

Sophie Rondeau 1 collaboration

Salima El Chehadeh 1 collaboration

Élise Schaefer 1 collaboration

Sonia Bouquillon 1 collaboration

Catherine Vincent Delorme 1 collaboration

Marie Vincent 1 collaboration

Sophie Blesson 1 collaboration

Fabienne Giuliano 1 collaboration

Laurence Perrin-Sabourin 1 collaboration

Jennifer Fabre-Teste 1 collaboration

Gaelle Vieville 1 collaboration

Christel Thauvin-Robinet 1 collaboration

Anne-Claude Tabet 1 collaboration

Thomas Rolland 1 collaboration

Marie Ducloy 1 collaboration

Jonathan Lévy 1 collaboration

Alexandre Mathieu 1 collaboration

Damien Haye 1 collaboration

Laurence Perrin 1 collaboration

Céline Dupont 1 collaboration

Yline Capri 1 collaboration

Alain Verloes 1 collaboration

Séverine Drunat 1 collaboration

Isabelle Marey 1 collaboration

Aurélia Jacquette 1 collaboration

Sandra Whalen 1 collaboration

Eva Pipiras 1 collaboration

Brigitte Benzacken 1 collaboration

Sandra Chantot-Bastaraud 1 collaboration

Albert David 1 collaboration

Laila El Khattabi 1 collaboration

Stephan Kemeny 1 collaboration

Philippe Vago 1 collaboration

Chantal Missirian 1 collaboration

Nicole Philip 1 collaboration

Damien Sanlaville 1 collaboration

Véronique Satre 1 collaboration

Charles Coutton 1 collaboration

Françoise Devillard 1 collaboration

Marie-Laure Vuillaume 1 collaboration

Caroline Rooryck 1 collaboration

Lucile Pinson 1 collaboration

Vincent Gatinois 1 collaboration

Jacques Puechberty 1 collaboration

Jean Chiesa 1 collaboration

Abdelamdjid Benmansour 1 collaboration

Claire S Leblond 1 collaboration

Roberto Toro 1 collaboration

Frédérique Amsellem 1 collaboration

Richard Delorme 1 collaboration

Thomas Bourgeron 1 collaboration

Sarah E Sheppard 1 collaboration

Laura Bryant 1 collaboration

Rochelle N Wickramasekara 1 collaboration

Courtney Vaccaro 1 collaboration

Brynn Robertson 1 collaboration

Jodi Hallgren 1 collaboration

Jason Hulen 1 collaboration

Cynthia J Watson 1 collaboration

Victor Faundes 1 collaboration

Pearl Lee 1 collaboration

M Celeste Simon 1 collaboration

Xavier de la Cruz 1 collaboration

Natália Padilla 1 collaboration

Marco Flores-Mendez 1 collaboration

Naiara Akizu 1 collaboration

Jacqueline Smiler 1 collaboration

Renata Pellegrino Da Silva 1 collaboration

Dong Li 1 collaboration

Michael March 1 collaboration

Abdias Diaz-Rosado 1 collaboration

Isabella Peixoto de Barcelos 1 collaboration

Zhao Xiang Choa 1 collaboration

Chin Yan Lim 1 collaboration

Florence Demurger 1 collaboration

Maureen Mulhern 1 collaboration

Cigdem Akman 1 collaboration

Natalie Lippa 1 collaboration

Marisa Andrews 1 collaboration

Dustin Baldridge 1 collaboration

John Constantino 1 collaboration

Arie van Haeringen 1 collaboration

Irina Snoeck-Streef 1 collaboration

Penny Chow 1 collaboration

Anne Hing 1 collaboration

John M Graham 1 collaboration

Margaret Au 1 collaboration

Wei Shen 1 collaboration

Rong Mao 1 collaboration

Janice Palumbos 1 collaboration

David Viskochil 1 collaboration

William Gahl 1 collaboration

Cynthia Tifft 1 collaboration

Ellen Macnamara 1 collaboration

Natalie Hauser 1 collaboration

Rebecca Miller 1 collaboration

Jessica Maffeo 1 collaboration

Pamela Arn 1 collaboration

Sarah Macklin-Mantia 1 collaboration

Ilse Meerschaut 1 collaboration

Bert Callewaert 1 collaboration

Carole Brewer 1 collaboration

Anand Saggar 1 collaboration

Marie F Smeland 1 collaboration

Ajith Kumar 1 collaboration

Frances Elmslie 1 collaboration

Charu Deshpande 1 collaboration

Benjamin Cogne 1 collaboration

Yvette van Ierland 1 collaboration

Martina Wilke 1 collaboration

Marjon van Slegtenhorst 1 collaboration

Suzanne Koudijs 1 collaboration

Jin Yun Chen 1 collaboration

David Dredge 1 collaboration

Danielle Pier 1 collaboration

Saskia Wortmann 1 collaboration

Erik-Jan Kamsteeg 1 collaboration

Johannes Koch 1 collaboration

Devon Haynes 1 collaboration

Lynda Pollack 1 collaboration

Hannah Titheradge 1 collaboration

Kara Ranguin 1 collaboration

Sacha Weber 1 collaboration

Rubén Pérez de la Fuente 1 collaboration

Jaime Sánchez Del Pozo 1 collaboration

Jose Miguel Lezana Rosales 1 collaboration

Pascal Joset 1 collaboration

Katharina Steindl 1 collaboration

Anita Rauch 1 collaboration

Davide Mei 1 collaboration

Francesco Mari 1 collaboration

Renzo Guerrini 1 collaboration

Frédéric Tran Mau-Them 1 collaboration

Benjamin Dauriat 1 collaboration

Laure Raymond 1 collaboration

Sébastien Moutton 1 collaboration

Anna M Cueto-González 1 collaboration

Tiong Yang Tan 1 collaboration

Sarah Grotto 1 collaboration

Florence Renaldo 1 collaboration

Theodore G Drivas 1 collaboration

Laura Hennessy 1 collaboration

Anna Raper 1 collaboration

Ilaria Parenti 1 collaboration

Frank J Kaiser 1 collaboration

Alma Kuechler 1 collaboration

Øyvind L Busk 1 collaboration

Lily Islam 1 collaboration

Jacob A Siedlik 1 collaboration

Lindsay B Henderson 1 collaboration

Jane Juusola 1 collaboration

Richard Person 1 collaboration

Rhonda E Schnur 1 collaboration

Antonio Vitobello 1 collaboration

Siddharth Banka 1 collaboration

Elizabeth J Bhoj 1 collaboration

Holly A F Stessman 1 collaboration

Rebecca Bromley 1 collaboration

John Dean 1 collaboration

Amanda Wood 1 collaboration

Janet Williams 1 collaboration

Verna Cuthbert 1 collaboration

Latha Hackett 1 collaboration

Neelo Aslam 1 collaboration

Heli Malm 1 collaboration

Gregory James 1 collaboration

Lena Westbom 1 collaboration

Ruth Day 1 collaboration

Edmund Ladusans 1 collaboration

Adam Jackson 1 collaboration

Iain Bruce 1 collaboration

Robert Walker 1 collaboration

Sangeet Sidhu 1 collaboration

Catrina Dyer 1 collaboration

Jane Ashworth 1 collaboration

Daniel Hindley 1 collaboration

Gemma Arca Diaz 1 collaboration

Myfanwy Rawson 1 collaboration

Peter Turnpenny 1 collaboration

Justine Lerat 1 collaboration

Corinne Magdelaine 1 collaboration

Anne-Françoise Roux 1 collaboration

Léa Darnaud 1 collaboration

Hélène Beauvais-Dzugan 1 collaboration

Steven Naud 1 collaboration

Laurence Richard 1 collaboration

Paco Derouault 1 collaboration

Karima Ghorab 1 collaboration

Laurent Magy 1 collaboration

Jean-Michel Vallat 1 collaboration

Pascal Cintas 1 collaboration

Eric Bieth 1 collaboration

Marie-Christine Arne-Bes 1 collaboration

Cyril Goizet 1 collaboration

Caroline Espil-Taris 1 collaboration

Jon Andoni Urtizberea 1 collaboration

Odile Boespflug-Tanguy 1 collaboration

Philippe Corcia 1 collaboration

Sylva Napuri 1 collaboration

Jonathan Ciron 1 collaboration

Jean-Marc Boulesteix 1 collaboration

Franck Sturtz 1 collaboration

Anne-Sophie Lia 1 collaboration

Julien Denis 1 collaboration

Nathalie Villeneuve 1 collaboration

Pierre Cacciagli 1 collaboration

Cecile Mignon-Ravix 1 collaboration

Jeremie Lefranc 1 collaboration

Sylvia Napuri 1 collaboration

Lena Damaj 1 collaboration

Frederic Villega 1 collaboration

Jean-Michel Pedespan 1 collaboration

Sebastien Moutton 1 collaboration

Laurence Lion-François 1 collaboration

Svetlana Gataullina 1 collaboration

Olivier Dulac 1 collaboration

Melanie Martin 1 collaboration

Sophie Gueden 1 collaboration

Sophie Julia 1 collaboration

Cecilia Altuzarra 1 collaboration

Bruria Ben Zeev 1 collaboration

Magalie Barth 1 collaboration

Rosalind Verheije 1 collaboration

Gabriel S Kupchik 1 collaboration

Hester Y Kroes 1 collaboration

Sally Ann Lynch 1 collaboration

Lara Hawkes 1 collaboration

Maja Hempel 1 collaboration

Bruce D Gelb 1 collaboration

Jamal Ghoumid 1 collaboration

Guylaine D'Amours 1 collaboration

Kate Chandler 1 collaboration

Sara Loddo 1 collaboration

Zeynep Tümer 1 collaboration

Charles Shaw-Smith 1 collaboration

Michael Shevell 1 collaboration

Evelien Van Hoof 1 collaboration

Kwame Anyane-Yeboa 1 collaboration

Gaetana Cerbone 1 collaboration

Benjamin Cogné 1 collaboration

Pierre Corre 1 collaboration

Anniek Corveleyn 1 collaboration

Marie De Borre 1 collaboration

Tina Duelund Hjortshøj 1 collaboration

Marc Gewillig 1 collaboration

Elizabeth Goldmuntz 1 collaboration

Greet Hens 1 collaboration

Emmanuelle Lemyre 1 collaboration

Usha Kini 1 collaboration

Fanny Kortüm 1 collaboration

Cedric Le Caignec 1 collaboration

Antonio Novelli 1 collaboration

Anya Revah-Politi 1 collaboration

Nicholas Stong 1 collaboration

Tim M Strom 1 collaboration

Ellen van Binsbergen 1 collaboration

None None 1 collaboration

Koenraad Devriendt 1 collaboration

Jeroen Breckpot 1 collaboration

J Lerat 1 collaboration

C Magdelaine 1 collaboration

A Lunati 1 collaboration

H Dzugan 1 collaboration

C Dejoie 1 collaboration

M Rego 1 collaboration

P Beze Beyrie 1 collaboration

E Bieth 1 collaboration

P Calvas 1 collaboration

P Cintas 1 collaboration

A Delaubrier 1 collaboration

F Demurger 1 collaboration

B Gilbert-Dussardier 1 collaboration

C Goizet 1 collaboration

H Journel 1 collaboration

F Laffargue 1 collaboration

L Magy 1 collaboration

F Taithe 1 collaboration

A Toutain 1 collaboration

J A Urtizberea 1 collaboration

F Sturtz 1 collaboration

A S Lia 1 collaboration

Emmanuelle Lagrue 1 collaboration

Céline Dogan 1 collaboration

Marie De Antonio 1 collaboration

Frédérique Audic 1 collaboration

Nathalie Bach 1 collaboration

Rémi Bellance 1 collaboration

Brigitte Chabrol 1 collaboration

Jean-Marie Cuisset 1 collaboration

Isabelle Desguerre 1 collaboration

Julien Durigneux 1 collaboration

Caroline Espil 1 collaboration

Arnaud Isapof 1 collaboration

Agnès Jacquin-Piques 1 collaboration

Cécile Laroche-Raynaud 1 collaboration

Vincent Laugel 1 collaboration

Armelle Magot 1 collaboration

Véronique Manel 1 collaboration

Michèle Mayer 1 collaboration

Yann Péréon 1 collaboration

Julie Perrier-Boeswillald 1 collaboration

Sylviane Peudenier 1 collaboration

Susana Quijano-Roy 1 collaboration

Sylvie Ragot-Mandry 1 collaboration

Christian Richelme 1 collaboration

François Rivier 1 collaboration

Pascal Sabouraud 1 collaboration

Catherine Sarret 1 collaboration

Hervé Testard 1 collaboration

Catherine Vanhulle 1 collaboration

Ulrike Walther-Louvier 1 collaboration

Romain Gherardi 1 collaboration

Dalil Hamroun 1 collaboration

Guillaume Bassez 1 collaboration

François Lecoquierre 1 collaboration

Anne-Claire Brehin 1 collaboration

Sophie Coutant 1 collaboration

Juliette Coursimault 1 collaboration

Anne Bazin 1 collaboration

Wilfrid Finck 1 collaboration

Guillaume Benoist 1 collaboration

Marianne Begorre 1 collaboration

Daniel Cailliez 1 collaboration

Pierre Chenal 1 collaboration

Mirjam De Jong 1 collaboration

Sophie Degré 1 collaboration

Louise Devisme 1 collaboration

Corinne Jeanne 1 collaboration

Madeleine Joubert 1 collaboration

Hélène Laurichesse Delmas 1 collaboration

Valérie Layet 1 collaboration

Alain Liquier 1 collaboration

Raphaele Mangione 1 collaboration

Sophie Patrier 1 collaboration

Fanny Pelluard 1 collaboration

Nadia Tillouche 1 collaboration

Conny van Ravenswaaij-Arts 1 collaboration

Thierry Frebourg 1 collaboration

Pascale Saugier-Veber 1 collaboration

Nicolas Gruchy 1 collaboration

Gaël Nicolas 1 collaboration

Marion Gerard 1 collaboration

Marie Beaumont 1 collaboration

Linda Akloul 1 collaboration

Wilfrid Carré 1 collaboration

Chloé Quélin 1 collaboration

Houda Hamdi-Rozé 1 collaboration

Erwan Watrin 1 collaboration

Valérie Dupé 1 collaboration

Véronique David 1 collaboration

Audrey Schalk 1 collaboration

Margot A Cousin 1 collaboration

Nikita R Dsouza 1 collaboration

Thomas D Challman 1 collaboration

Karen E Wain 1 collaboration

Zoe Powis 1 collaboration

Kelly Minks 1 collaboration

Aurélien Trimouille 1 collaboration

Eulalie Lasseaux 1 collaboration

Chloé Angelini 1 collaboration

Vincent Michaud 1 collaboration

Julien Van-Gils 1 collaboration

Nino Spataro 1 collaboration

Anna Ruiz 1 collaboration

Elizabeth Gabau 1 collaboration

Elliot Stolerman 1 collaboration

Camerun Washington 1 collaboration

Ray Louie 1 collaboration

Brendan C Lanpher 1 collaboration

Jennifer L Kemppainen 1 collaboration

Micheil Innes 1 collaboration

Frank Kooy 1 collaboration

Marije Meuwissen 1 collaboration

Alice Goldenberg 1 collaboration

Francois Lecoquierre 1 collaboration

Gabriella Vera 1 collaboration

Karin E M Diderich 1 collaboration

Beth Sheidley 1 collaboration

Christelle Moufawad El Achkar 1 collaboration

Meredith Park 1 collaboration

Ann J Lewis 1 collaboration

Matias Wagner 1 collaboration

Heike Weigand 1 collaboration

Koen van Gassen 1 collaboration

Eva H Brilstra 1 collaboration

Gina Itzikowitz 1 collaboration

Emily O'Heir 1 collaboration

Jake Allen 1 collaboration

Kirsten A Donald 1 collaboration

Bruce Richard Korf 1 collaboration

Tammi Skelton 1 collaboration

Michelle Thompson 1 collaboration

Nathaniel H Robin 1 collaboration

Natasha L Rudy 1 collaboration

William B Dobyns 1 collaboration

Kimberly Foss 1 collaboration

Yuri Alexander Zarate 1 collaboration

Katherine A Bosanko 1 collaboration

Yves Alembik 1 collaboration

Benjamin Durand 1 collaboration

Frederic Tran Mau-Them 1 collaboration

Emmanuelle Ranza 1 collaboration

Xavier Blanc 1 collaboration

Stylianos E Antonarakis 1 collaboration

Kirsty McWalter 1 collaboration

Erin Torti 1 collaboration

Francisca Millan 1 collaboration

Amy Dameron 1 collaboration

Mari Tokita 1 collaboration

Michael T Zimmermann 1 collaboration

Eric W Klee 1 collaboration

Amelie Piton 1 collaboration

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Affiliations

Publications (14)

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20.

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability.

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.

Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures.

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability.

Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants.

A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management.

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Exome sequencing identifies the first genetic determinants of sirenomelia in humans.

Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders.

Réseau de co-auteurs