Florence Demurger

Bertrand Isidor 7 collaborations

Christèle Dubourg 7 collaborations

Sylvie Odent 6 collaborations

Laurence Faivre 6 collaborations

Boris Keren 6 collaborations

Sébastien Moutton 5 collaborations

Cyril Mignot 5 collaborations

Mélanie Fradin 5 collaborations

Laurent Pasquier 5 collaborations

Alexandra Afenjar 5 collaborations

Antonio Vitobello 4 collaborations

Jean-François Deleuze 4 collaborations

None None 4 collaborations

Dong Li 4 collaborations

Mathilde Nizon 4 collaborations

Perrine Charles 4 collaborations

Alinoë Lavillaureix 4 collaborations

Benjamin Cogne 3 collaborations

Didier Lacombe 3 collaborations

Florence Petit 3 collaborations

Audrey Putoux 3 collaborations

Christine Coubes 3 collaborations

Alice Goldenberg 3 collaborations

Delphine Héron 3 collaborations

Salima El Chehadeh 3 collaborations

Robert Olaso 3 collaborations

Frédéric Tran Mau-Them 3 collaborations

Anne Boland 3 collaborations

Benjamin Cogné 3 collaborations

Pascal Joset 3 collaborations

Sylvie Jaillard 3 collaborations

Elise Schaefer 3 collaborations

Anne-Marie Guerrot 3 collaborations

Marlène Rio 3 collaborations

Amélie Piton 3 collaborations

Benjamin Dauriat 3 collaborations

James Lespinasse 3 collaborations

Richard Person 3 collaborations

André Reis 2 collaborations

Yannis Duffourd 2 collaborations

François Lecoquierre 2 collaborations

Paul Kuentz 2 collaborations

Julien Thevenon 2 collaborations

Patrick Callier 2 collaborations

Cyril Goizet 2 collaborations

Fanny Morice-Picard 2 collaborations

Stanislas Lyonnet 2 collaborations

Valérie Cormier-Daire 2 collaborations

David Geneviève 2 collaborations

Patrick Collignon 2 collaborations

Laurence Perrin 2 collaborations

Martine Doco-Fenzy 2 collaborations

Nolwenn Jean-Marçais 2 collaborations

Christophe Philippe 2 collaborations

Ange-Line Bruel 2 collaborations

Céline Tard 2 collaborations

Françoise Bouhour 2 collaborations

Maud Michaud 2 collaborations

Armelle Magot 2 collaborations

Pascal Cintas 2 collaborations

Pascal Laforêt 2 collaborations

Alban Ziegler 2 collaborations

Elise Brischoux-Boucher 2 collaborations

Solène Conrad 2 collaborations

Sophie Nambot 2 collaborations

Tjitske Kleefstra 2 collaborations

Arnaud Isapof 2 collaborations

Tanya Stojkovic 2 collaborations

Gisèle Bonne 2 collaborations

Cédric Le Caignec 2 collaborations

Christine Francannet 2 collaborations

Catherine Sarret 2 collaborations

Annick Toutain 2 collaborations

Marie Vincent 2 collaborations

Lydie Burglen 2 collaborations

Estelle Colin 2 collaborations

Michèle Mathieu-Dramard 2 collaborations

Marjolaine Willems 2 collaborations

Jean-Louis Mandel 2 collaborations

Gaël Nicolas 2 collaborations

Anne-Claire Richard 2 collaborations

Varoona Bizaoui 2 collaborations

Nicolas Chatron 2 collaborations

Julian Delanne 2 collaborations

Anne-Sophie Denommé-Pichon 2 collaborations

Christel Depienne 2 collaborations

Patrick Edery 2 collaborations

Brigitte Gilbert-Dussardier 2 collaborations

Alma Kuechler 2 collaborations

Jonathan Levy 2 collaborations

Fabienne Prieur 2 collaborations

Chloé Quélin 2 collaborations

Massimiliano Rossi 2 collaborations

Thomas Smol 2 collaborations

Renaud Touraine 2 collaborations

Frederic Tran Mau-Them 2 collaborations

Aurélien Trimouille 2 collaborations

Camille Charbonnier 2 collaborations

Rami Abou Jamra 2 collaborations

Kirsty McWalter 2 collaborations

Anita Rauch 2 collaborations

Katharina Steindl 2 collaborations

Isabelle Thiffault 2 collaborations

Siddharth Banka 2 collaborations

Claudia Ruivenkamp 2 collaborations

Elizabeth Bhoj 2 collaborations

Jeanne Amiel 2 collaborations

Michael March 2 collaborations

Hussam Al-Kateb 1 collaboration

P Y Billie Au 1 collaboration

Siren Berland 1 collaboration

Joel Fluss 1 collaboration

L Matthew Frank 1 collaboration

Konstantinos Varvagiannis 1 collaboration

David A Koolen 1 collaboration

Marie McDonald 1 collaboration

Sarah Montgomery 1 collaboration

Stéphanie Moortgat 1 collaboration

Marie Deprez 1 collaboration

Deniz Karadurmus 1 collaboration

Julie Paulsen 1 collaboration

Melissa Rieger 1 collaboration

Georgia Vasileiou 1 collaboration

Marcia Willing 1 collaboration

Marwan Shinawi 1 collaboration

Martin Chevarin 1 collaboration

Rebecca A Barnard 1 collaboration

Fatma Daoud 1 collaboration

Caroline Cabret 1 collaboration

Elodie Gautier 1 collaboration

Judith St-Onge 1 collaboration

Thibaud Jouan 1 collaboration

Marie Ange Delrue 1 collaboration

Julien Van-Gils 1 collaboration

Arnold Munnich 1 collaboration

Geneviève Baujat 1 collaboration

Muriel Holder 1 collaboration

Bruno Leheup 1 collaboration

Pierre-Simon Jouk 1 collaboration

Gipsy Lopez 1 collaboration

Dominique Martin-Coignard 1 collaboration

Aurélia Jacquette 1 collaboration

Elisabeth Sarrazin 1 collaboration

Khadija Amarof 1 collaboration

Isabelle Missotte 1 collaboration

Sujatha Jagadeesh 1 collaboration

Elisabetta Lapi 1 collaboration

Alice Masurel 1 collaboration

Nathalie Marle 1 collaboration

Frédéric Huet 1 collaboration

Christine Binquet 1 collaboration

Gwenaëlle Collod-Beroud 1 collaboration

Pauline Arnaud 1 collaboration

Nadine Hanna 1 collaboration

Catherine Boileau 1 collaboration

Guillaume Jondeau 1 collaboration

Doris Lechner 1 collaboration

Charlotte Poe 1 collaboration

Mirna Assoum 1 collaboration

Virginie Carmignac 1 collaboration

Laurence Duplomb 1 collaboration

Christel Thauvin-Robinet 1 collaboration

Jean-Baptiste Rivière 1 collaboration

Brian J O'Roak 1 collaboration

Stephane Beltran 1 collaboration

Maxime Fournier 1 collaboration

Emmeline Lagrange 1 collaboration

Sylvain Nollet 1 collaboration

Sabrina Sacconi 1 collaboration

Jean-Baptiste Noury 1 collaboration

Dimitri Renard 1 collaboration

Joëlle Deibener-Kaminsky 1 collaboration

Claire Lefeuvre 1 collaboration

Jean-Baptiste Davion 1 collaboration

Emmanuelle Salort-Campana 1 collaboration

Azzeddine Arrassi 1 collaboration

Nadjib Taouagh 1 collaboration

Marco Spinazzi 1 collaboration

Shahram Attarian 1 collaboration

David Picketts 1 collaboration

Ghayda Mirzaa 1 collaboration

Keqin Yan 1 collaboration

Raissa Relator 1 collaboration

Sara Timpano 1 collaboration

Binnaz Yalcin 1 collaboration

Stephan Collins 1 collaboration

Emily Pao 1 collaboration

Nora Oyama 1 collaboration

Juliette Piard 1 collaboration

Kristin Monaghan 1 collaboration

Maria Guillen Sacoto 1 collaboration

William Dobyns 1 collaboration

Kristen Park 1 collaboration

Daniel Fernández-Mayoralas 1 collaboration

Alberto Fernández-Jaén 1 collaboration

Parul Jayakar 1 collaboration

Alfredo Brusco 1 collaboration

Vincenzo Antona 1 collaboration

Elisa Giorgio 1 collaboration

Malin Kvarnung 1 collaboration

Wallid Deb 1 collaboration

K E Stuurman 1 collaboration

Katalin Sterbova 1 collaboration

Noor Smal 1 collaboration

Sarah Weckhuysen 1 collaboration

Renske Oegema 1 collaboration

Micheil Innes 1 collaboration

Maeson Latsko 1 collaboration

Tawfeg Ben-Omran 1 collaboration

Rebecca Yeh 1 collaboration

Michael Kruer 1 collaboration

Somayeh Bakhtiari 1 collaboration

Antigone Papavasiliou 1 collaboration

Sirisak Chanprasert 1 collaboration

Sarah Paolucci 1 collaboration

Kait Miller 1 collaboration

Barbara Burton 1 collaboration

Katherine Kim 1 collaboration

Emily O'Heir 1 collaboration

Zandre Bruwer 1 collaboration

Kirsten Donald 1 collaboration

Amy Goldstein 1 collaboration

Brad Angle 1 collaboration

Kelly Bontempo 1 collaboration

Peter Miny 1 collaboration

Emma Hobson 1 collaboration

Lewis Pang 1 collaboration

Lori Carpenter 1 collaboration

Dominique Bonneau 1 collaboration

Bekim Sadikovic 1 collaboration

Jonathan De Winter 1 collaboration

Liedewei Van de Vondel 1 collaboration

Biljana Ermanoska 1 collaboration

Alice Monticelli 1 collaboration

Enzo Cohen 1 collaboration

Peter Hackman 1 collaboration

Mridul Johari 1 collaboration

Johanna Palmio 1 collaboration

Megan A Waldrop 1 collaboration

Alayne P Meyer 1 collaboration

Stefan Nicolau 1 collaboration

Kevin M Flanigan 1 collaboration

Ana Töpf 1 collaboration

Jordi Diaz-Manera 1 collaboration

Volker Straub 1 collaboration

Cheryl Longman 1 collaboration

Catherine A McWilliam 1 collaboration

Rotem Orbach 1 collaboration

Sumit Verma 1 collaboration

Regina Laine 1 collaboration

Sandra Donkervoort 1 collaboration

Carsten G Bonnemann 1 collaboration

Adriana Rebelo 1 collaboration

Stephan Züchner 1 collaboration

Tiffany Grider 1 collaboration

Michael E Shy 1 collaboration

Isabelle Maystadt 1 collaboration

Anita Cairns 1 collaboration

Sarah Beecroft 1 collaboration

Chiara Folland 1 collaboration

Willem De Ridder 1 collaboration

Gina Ravenscroft 1 collaboration

Bjarne Udd 1 collaboration

Jonathan Baets 1 collaboration

Kamran Moradkhani 1 collaboration

Olivier Pichon 1 collaboration

Cécile Pascal 1 collaboration

Caroline Thomas 1 collaboration

Sophie Bayart 1 collaboration

Antoinette Perlat 1 collaboration

Karim Wahbi 1 collaboration

Rabah Ben Yaou 1 collaboration

Estelle Gandjbakhch 1 collaboration

Frédéric Anselme 1 collaboration

Thomas Gossios 1 collaboration

Neal K Lakdawala 1 collaboration

Caroline Stalens 1 collaboration

Frédéric Sacher 1 collaboration

Dominique Babuty 1 collaboration

Jean-Noel Trochu 1 collaboration

Ghassan Moubarak 1 collaboration

Kostantinos Savvatis 1 collaboration

Raphaël Porcher 1 collaboration

Abdallah Fayssoil 1 collaboration

Eloi Marijon 1 collaboration

Anthony Béhin 1 collaboration

Sarah Leonard-Louis 1 collaboration

Guilhem Sole 1 collaboration

Fabien Labombarda 1 collaboration

Pascale Richard 1 collaboration

Corinne Metay 1 collaboration

Susana Quijano-Roy 1 collaboration

Ivana Dabaj 1 collaboration

Didier Klug 1 collaboration

Marie-Christine Vantyghem 1 collaboration

Philippe Chevalier 1 collaboration

Pierre Ambrosi 1 collaboration

Emmanuelle Salort 1 collaboration

Nicolas Sadoul 1 collaboration

Xavier Waintraub 1 collaboration

Khadija Chikhaoui 1 collaboration

Philippe Mabo 1 collaboration

Nicolas Combes 1 collaboration

Philippe Maury 1 collaboration

Jean-Marc Sellal 1 collaboration

Usha B Tedrow 1 collaboration

Jonathan M Kalman 1 collaboration

Jitendra Vohra 1 collaboration

Alexander F A Androulakis 1 collaboration

Katja Zeppenfeld 1 collaboration

Tina Thompson 1 collaboration

Christine Barnerias 1 collaboration

Henri-Marc Bécane 1 collaboration

Eric Bieth 1 collaboration

Franck Boccara 1 collaboration

Damien Bonnet 1 collaboration

Stéphane Boulé 1 collaboration

Anne-Claire Brehin 1 collaboration

Françoise Chapon 1 collaboration

Jean-Marie Cuisset 1 collaboration

Jean-Marc Davy 1 collaboration

Annachiara De Sandre-Giovannoli 1 collaboration

Isabelle Desguerre 1 collaboration

Klaus Dieterich 1 collaboration

Julien Durigneux 1 collaboration

Andoni Echaniz-Laguna 1 collaboration

Romain Eschalier 1 collaboration

Ana Ferreiro 1 collaboration

Xavier Ferrer 1 collaboration

Bénédicte Gaborit 1 collaboration

Arnaud Gay 1 collaboration

Albert Hagège 1 collaboration

Isabelle Jeru 1 collaboration

Raul Juntas Morales 1 collaboration

Emmanuelle Lagrue 1 collaboration

Nicolas Lamblin 1 collaboration

Olivier Lascols 1 collaboration

Vincent Laugel 1 collaboration

Arnaud Lazarus 1 collaboration

France Leturcq 1 collaboration

Nicolas Levy 1 collaboration

Véronique Manel 1 collaboration

Raphaël Martins 1 collaboration

Michèle Mayer 1 collaboration

Sandra Mercier 1 collaboration

Christophe Meune 1 collaboration

Marie-Christine Minot-Myhié 1 collaboration

Antoine Muchir 1 collaboration

Aleksandra Nadaj-Pakleza 1 collaboration

Yann Péréon 1 collaboration

Philippe Petiot 1 collaboration

Julien Praline 1 collaboration

Anne Rollin 1 collaboration

Pascal Sabouraud 1 collaboration

Stéphane Schaeffer 1 collaboration

Frederic Taithe 1 collaboration

Vincent Tiffreau 1 collaboration

Camille Vatier 1 collaboration

Ulrike Walther-Louvier 1 collaboration

Bruno Eymard 1 collaboration

Philippe Charron 1 collaboration

Corinne Vigouroux 1 collaboration

Saurabh Kumar 1 collaboration

Perry Elliott 1 collaboration

Denis Duboc 1 collaboration

Jérémie Courraud 1 collaboration

Eric Chater-Diehl 1 collaboration

Benjamin Durand 1 collaboration

Maria Del Mar Muniz Moreno 1 collaboration

Imene Boujelbene 1 collaboration

Nathalie Drouot 1 collaboration

Loréline Genschik 1 collaboration

Bénédicte Gerard 1 collaboration

Marc Abramowicz 1 collaboration

Lucas Bronicki 1 collaboration

Magalie Barth 1 collaboration

Albert David 1 collaboration

Bruno Delobel 1 collaboration

Sandrine Passemard 1 collaboration

Anne-Sophie Denommé 1 collaboration

Claire Feger 1 collaboration

David Genevieve 1 collaboration

Katrine M Johannesen 1 collaboration

Maria Kibæk 1 collaboration

Bénédicte Demeer 1 collaboration

Julia Metreau 1 collaboration

Rikke Steensbjerre Møller 1 collaboration

Kristina Pilekær Sørensen 1 collaboration

Mathilde Renaud 1 collaboration

Pascale Saugier 1 collaboration

Joane Svane 1 collaboration

Frédéric Tran Mau Them 1 collaboration

Cathrine Elisabeth Tronhjem 1 collaboration

Valérie Layet 1 collaboration

Stéphane Auvin 1 collaboration

Khaoula Khachnaoui 1 collaboration

Marie-Christine Birling 1 collaboration

Séverine Drunat 1 collaboration

Allan Bayat 1 collaboration

Christina Fagerberg 1 collaboration

Michel Guipponi 1 collaboration

Thierry Bienvenu 1 collaboration

Yann Herault 1 collaboration

Julie Thompson 1 collaboration

Rosanna Weksberg 1 collaboration

Thomas Husson 1 collaboration

Séverine Audebert-Bellanger 1 collaboration

Catherine Badens 1 collaboration

Frédéric Bilan 1 collaboration

Marie-Noëlle Bonnet-Dupeyron 1 collaboration

Céline Bonnet 1 collaboration

Marie Bournez 1 collaboration

Odile Boute 1 collaboration

Perrine Brunelle 1 collaboration

Roseline Caumes 1 collaboration

Nicolas Chassaing 1 collaboration

Rodolphe Dard 1 collaboration

Anne Dieux 1 collaboration

Patricia Fergelot 1 collaboration

Aurore Garde 1 collaboration

Evan Gouy 1 collaboration

Anne Guimier 1 collaboration

Inès Harzalla 1 collaboration

Xavier Le Guillou Horn 1 collaboration

Elodie Lacaze 1 collaboration

Daphné Lehalle 1 collaboration

Gaëtan Lesca 1 collaboration

Godeliève Morel 1 collaboration

Sandrine Marlin 1 collaboration

Luisa Marsili 1 collaboration

Laurine Perrin 1 collaboration

Veronique Pingault 1 collaboration

Marc Planes 1 collaboration

Sylvia Quemener-Redon 1 collaboration

Mélanie Rama 1 collaboration

Sophie Rondeau 1 collaboration

Pascale Saugier-Veber 1 collaboration

Sabine Sigaudy 1 collaboration

Julien Van Gils 1 collaboration

Clémence Vanlerberghe 1 collaboration

Valérie Vantalon 1 collaboration

Gabriella Vera 1 collaboration

Olivier Guillin 1 collaboration

Dominique Campion 1 collaboration

Elizabeth A Werren 1 collaboration

Guillermo Rodriguez Bey 1 collaboration

Purvi Majethia 1 collaboration

Parneet Kaur 1 collaboration

Siddaramappa J Patil 1 collaboration

Minal Kekatpure 1 collaboration

Leila Qebibo 1 collaboration

Hoda Tomoum 1 collaboration

Christele Duborg 1 collaboration

Shahyan Siddiqui 1 collaboration

Yao-Chang Tsan 1 collaboration

Uzma Abdullah 1 collaboration

Zafar Ali 1 collaboration

Saadia Maryam Saadi 1 collaboration

Shahid Mahmood Baig 1 collaboration

Henry Houlden 1 collaboration

Reza Maroofian 1 collaboration

Quasar Saleem Padiath 1 collaboration

Stephanie L Bielas 1 collaboration

Anju Shukla 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

Anne H O'Donnell-Luria 1 collaboration

Lynn S Pais 1 collaboration

Víctor Faundes 1 collaboration

Jordan C Wood 1 collaboration

Abigail Sveden 1 collaboration

Victor Luria 1 collaboration

Andrea Accogli 1 collaboration

Kimberly Amburgey 1 collaboration

Britt Marie Anderlid 1 collaboration

Silvia Azzarello-Burri 1 collaboration

Alice A Basinger 1 collaboration

Claudia Bianchini 1 collaboration

Lynne M Bird 1 collaboration

Rebecca Buchert 1 collaboration

Wilfrid Carre 1 collaboration

Sophia Ceulemans 1 collaboration

Helen Cox 1 collaboration

Lisa Culliton 1 collaboration

Aurora Currò 1 collaboration

James J Dowling 1 collaboration

Benedicte Duban-Bedu 1 collaboration

Saga Elise Eiset 1 collaboration

Luis F Escobar 1 collaboration

Alessandra Ferrarini 1 collaboration

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Mona Hashim 1 collaboration

Solveig Heide 1 collaboration

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Ingo Helbig 1 collaboration

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Fernando Kok 1 collaboration

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Xin Lu 1 collaboration

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Carlo L M Marcelis 1 collaboration

Paul R Mark 1 collaboration

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Heather M McLaughlin 1 collaboration

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Carol Saunders 1 collaboration

Niklas Schwarz 1 collaboration

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Steffen Syrbe 1 collaboration

Jenny C Taylor 1 collaboration

Aida Telegrafi 1 collaboration

Doris A Trauner 1 collaboration

Helio van der Linden 1 collaboration

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Laurent Villard 1 collaboration

Ida Vogel 1 collaboration

Julie Vogt 1 collaboration

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Jaroslav Zak 1 collaboration

Samantha Baxter 1 collaboration

Lance H Rodan 1 collaboration

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Elke de Boer 1 collaboration

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Machteld Oud 1 collaboration

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Michael Kwint 1 collaboration

Melde Witmond 1 collaboration

Simone Kersten 1 collaboration

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Anna Ruiz 1 collaboration

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Christopher Griffith 1 collaboration

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Candace Gamble 1 collaboration

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Austin Larson 1 collaboration

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Arthur Sorlin 1 collaboration

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Daniel Koboldt 1 collaboration

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Alexander P A Stegmann 1 collaboration

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Brynn Robertson 1 collaboration

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Jason Hulen 1 collaboration

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Victor Faundes 1 collaboration

Pearl Lee 1 collaboration

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Xavier de la Cruz 1 collaboration

Natália Padilla 1 collaboration

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Affiliations

Publications (22)

CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

Real-life effectiveness 1 year after switching to avalglucosidase alfa in late-onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study.

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features.

11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA.

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.

Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.

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

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

De novo variants in ATP2B1 lead to neurodevelopmental delay.

Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening.

An AluYa5 Insertion in the 3'UTR of COL4A1 and Cerebral Small Vessel Disease.

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

Prenatal phenotype of 22q11 micro-duplications: A systematic review and report on 12 new cases.

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.

Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotype.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.

Réseau de co-auteurs