Laurence Duplomb

Laurence Faivre 12 collaborations

Christel Thauvin-Robinet 10 collaborations

Yannis Duffourd 6 collaborations

Romain Da Costa 5 collaborations

Antonio Vitobello 4 collaborations

Virginie Carmignac 4 collaborations

Martin Chevarin 4 collaborations

Benjamin Cogné 3 collaborations

Julien Thevenon 3 collaborations

Vincent Lhussiez 3 collaborations

Sylvie Nguyen 3 collaborations

Muhammad Ansar 3 collaborations

Gaëtan Jego 3 collaborations

Ange-Line Bruel 3 collaborations

Christophe Philippe 3 collaborations

Philippine Garret 2 collaborations

Pierre Vabres 2 collaborations

Arthur Sorlin 2 collaborations

David Geneviève 2 collaborations

Thibaud Jouan 2 collaborations

Paul Kuentz 2 collaborations

Judith St-Onge 2 collaborations

Rami Abou Jamra 2 collaborations

Jean-Baptiste Rivière 2 collaborations

Niyazi Acar 2 collaborations

Emeline F Nandrot 2 collaborations

Isabelle Audo 2 collaborations

Eléonore Lizé 2 collaborations

Carmen Garrido 2 collaborations

Christel Thauvin 2 collaborations

Arnaud Lafon 2 collaborations

Elodie Gautier 2 collaborations

Quentin Thomas 2 collaborations

Thierry Gautier 2 collaborations

François Girodon 2 collaborations

Thomas Besnard 2 collaborations

Adam Jackson 2 collaborations

Siddharth Banka 2 collaborations

Julian Delanne 2 collaborations

Sylvie Odent 2 collaborations

Jérôme Govin 2 collaborations

Charlotte Montillot 2 collaborations

Morgane Dubied 2 collaborations

Nicolas Navarro 2 collaborations

Binnaz Yalcin 2 collaborations

Sébastien Moutton 2 collaborations

Patrick Callier 2 collaborations

Alice Masurel 2 collaborations

Nathalie Marle 2 collaborations

Frédéric Tran Mau-Them 2 collaborations

Frédéric Ebstein 1 collaboration

Geoffroy Delplancq 1 collaboration

Blandine Dozieres-Puyravel 1 collaboration

Aïcha Boughalem 1 collaboration

Stéphane Auvin 1 collaboration

Sandro Klafack 1 collaboration

Barbara A Zieba 1 collaboration

Sana Mahmoudi 1 collaboration

Karun K Singh 1 collaboration

Jean-Marc Costa 1 collaboration

Elke Krüger 1 collaboration

Detlef Trost 1 collaboration

Alain Verloes 1 collaboration

Daphné Lehalle 1 collaboration

Tatjana Bierhals 1 collaboration

Magali Avila 1 collaboration

Erin Torti 1 collaboration

Yuichi Abe 1 collaboration

Tobias Bartolomaeus 1 collaboration

Jill Clayton-Smith 1 collaboration

Ivon Cusco 1 collaboration

Eveline De Bont 1 collaboration

Floor Duijkers 1 collaboration

Orly Elpeleg 1 collaboration

Aviva Fattal 1 collaboration

Maria J Guillen Sacoto 1 collaboration

Anne Guimier 1 collaboration

David J Harris 1 collaboration

Maja Hempel 1 collaboration

Bertrand Isidor 1 collaboration

Eriko Koshimizu 1 collaboration

Klaske Lichtenbelt 1 collaboration

Valerie Loik Ramey 1 collaboration

Miriam Maik 1 collaboration

Sakoto Miyakate 1 collaboration

Yoshiko Murakami 1 collaboration

Laurent Pasquier 1 collaboration

Helio Pedro 1 collaboration

Laurie Simone 1 collaboration

Krista Sondergaard-Schatz 1 collaboration

Irene Valenzuela 1 collaboration

Koen van Gassen 1 collaboration

Mieke M van Haelst 1 collaboration

Silvana van Koningsbruggen 1 collaboration

Edgard Verdura 1 collaboration

Christa Whelan Habela 1 collaboration

Pia Zacher 1 collaboration

Joerg Betschinger 1 collaboration

Elisabeth Dubus 1 collaboration

Quénol Cesar 1 collaboration

Manuel Simonutti 1 collaboration

Audrey Geissler 1 collaboration

André Bouchot 1 collaboration

Serge Picaud 1 collaboration

Laurence Olivier-Faivre 1 collaboration

Manon Durand 1 collaboration

Vincent Cabaud Gibouin 1 collaboration

Leila Salmi 1 collaboration

Mélody Caillot 1 collaboration

Brigitte Sola 1 collaboration

Vincent Camus 1 collaboration

Fabrice Jardin 1 collaboration

Morgane Bordessoules 1 collaboration

Magali Guilleman 1 collaboration

Hortense Courot 1 collaboration

Amandine Bataille 1 collaboration

Amandine Chlémaire 1 collaboration

Céline Bruno 1 collaboration

Patricia Fauque 1 collaboration

Dominique Seux 1 collaboration

Brigitte Grogogeat 1 collaboration

Anahide Marcelet 1 collaboration

Laurent Laforest 1 collaboration

Pierre-Henry Gabrielle 1 collaboration

Xavier Zanlonghi 1 collaboration

Hélène Dollfus 1 collaboration

Alberta A H J Thiadens 1 collaboration

Christina Zeitz 1 collaboration

Grazia M S Mancini 1 collaboration

Yaumara Perdomo 1 collaboration

Saddek Mohand-Saïd 1 collaboration

Catherine Creuzot-Garcher 1 collaboration

José-Alain Sahel 1 collaboration

Marialetizia Motta 1 collaboration

Maha S Zaki 1 collaboration

Andrea Ciolfi 1 collaboration

Julien Paccaud 1 collaboration

Odile Boespflug-Tanguy 1 collaboration

Jennifer Kerkhof 1 collaboration

Haley McConkey 1 collaboration

Aymeric Masson 1 collaboration

Anne-Sophie Denommé-Pichon 1 collaboration

Eva Trochu 1 collaboration

Virginie Vignard 1 collaboration

Fatima El It 1 collaboration

Lance H Rodan 1 collaboration

Mohammad Ayman Alkhateeb 1 collaboration

Emilie Tisserant 1 collaboration

Meriel McEntagart 1 collaboration

Anand Saggar 1 collaboration

Joseph G Gleeson 1 collaboration

David Sievert 1 collaboration

Hyunwoo Bae 1 collaboration

Beom Hee Lee 1 collaboration

Kisang Kwon 1 collaboration

Go Hun Seo 1 collaboration

Hane Lee 1 collaboration

Anjum Saeed 1 collaboration

Nadeem Anjum 1 collaboration

Huma Cheema 1 collaboration

Salem Alawbathani 1 collaboration

Imran Khan 1 collaboration

Jorge Pinto-Basto 1 collaboration

Joyce Teoh 1 collaboration

Jasmine Wong 1 collaboration

Umar Bin Mohamad Sahari 1 collaboration

Henry Houlden 1 collaboration

Kristina Zhelcheska 1 collaboration

Melanie Pannetier 1 collaboration

Mona A Awad 1 collaboration

Marion Lesieur-Sebellin 1 collaboration

Giulia Barcia 1 collaboration

Jeanne Amiel 1 collaboration

Aida Bertoli-Avella 1 collaboration

Bekim Sadikovic 1 collaboration

Bruno Reversade 1 collaboration

Reza Maroofian 1 collaboration

Marco Tartaglia 1 collaboration

Emilia Skutunova 1 collaboration

None Ayushma 1 collaboration

Adam Lahmar 1 collaboration

Benazir Peerally 1 collaboration

Fabrice Prin 1 collaboration

Heng Wang 1 collaboration

Shilpi Minocha 1 collaboration

Stephan C Collins 1 collaboration

Steven De Almeida 1 collaboration

Smail Hadj-Rabia 1 collaboration

Stéphanie Leclerc-Mercier 1 collaboration

Rebecca A Barnard 1 collaboration

François Lecoquierre 1 collaboration

Fatma Daoud 1 collaboration

Caroline Cabret 1 collaboration

Didier Lacombe 1 collaboration

Marie Ange Delrue 1 collaboration

Cyril Goizet 1 collaboration

Fanny Morice-Picard 1 collaboration

Julien Van-Gils 1 collaboration

Arnold Munnich 1 collaboration

Stanislas Lyonnet 1 collaboration

Valérie Cormier-Daire 1 collaboration

Geneviève Baujat 1 collaboration

Muriel Holder 1 collaboration

Florence Petit 1 collaboration

Bruno Leheup 1 collaboration

Pierre-Simon Jouk 1 collaboration

Gipsy Lopez 1 collaboration

Patrick Collignon 1 collaboration

Dominique Martin-Coignard 1 collaboration

Aurélia Jacquette 1 collaboration

Laurence Perrin 1 collaboration

Audrey Putoux 1 collaboration

Elisabeth Sarrazin 1 collaboration

Khadija Amarof 1 collaboration

Isabelle Missotte 1 collaboration

Christine Coubes 1 collaboration

Sujatha Jagadeesh 1 collaboration

Elisabetta Lapi 1 collaboration

Florence Demurger 1 collaboration

Alice Goldenberg 1 collaboration

Martine Doco-Fenzy 1 collaboration

Cyril Mignot 1 collaboration

Delphine Héron 1 collaboration

Nolwenn Jean-Marçais 1 collaboration

Salima El Chehadeh 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

Robert Olaso 1 collaboration

Doris Lechner 1 collaboration

Charlotte Poe 1 collaboration

Mirna Assoum 1 collaboration

Anne Boland 1 collaboration

Jean-François Deleuze 1 collaboration

Brian J O'Roak 1 collaboration

F Tran Mau-Them 1 collaboration

L Guibaud 1 collaboration

L Duplomb 1 collaboration

B Keren 1 collaboration

K Lindstrom 1 collaboration

I Marey 1 collaboration

F Mochel 1 collaboration

M J van den Boogaard 1 collaboration

R Oegema 1 collaboration

C Nava 1 collaboration

A Masurel 1 collaboration

T Jouan 1 collaboration

F E Jansen 1 collaboration

M Au 1 collaboration

Agnes H Chen 1 collaboration

M Cho 1 collaboration

Y Duffourd 1 collaboration

E Lozier 1 collaboration

F Konovalov 1 collaboration

A Sharkov 1 collaboration

S Korostelev 1 collaboration

B Urteaga 1 collaboration

P Dickson 1 collaboration

M Vera 1 collaboration

Julián A Martínez-Agosto 1 collaboration

A Begemann 1 collaboration

M Zweier 1 collaboration

T Schmitt-Mechelke 1 collaboration

A Rauch 1 collaboration

C Philippe 1 collaboration

K van Gassen 1 collaboration

S Nelson 1 collaboration

J M Graham 1 collaboration

J Friedman 1 collaboration

L Faivre 1 collaboration

H J Lin 1 collaboration

C Thauvin-Robinet 1 collaboration

A Vitobello 1 collaboration

Julie Rivière 1 collaboration

Arlette Hammann 1 collaboration

Jessica Racine 1 collaboration

Alain Schmitt 1 collaboration

Nathalie Droin 1 collaboration

Claude Capron 1 collaboration

Marie-Anne Gougerot-Pocidalo 1 collaboration

Laurence Dubrez 1 collaboration

Bernard Aral 1 collaboration

Patrick Edery 1 collaboration

Jamal Ghoumid 1 collaboration

Edward Blair 1 collaboration

Salima El Chehadeh-Djebbar 1 collaboration

Julien Guy 1 collaboration

Jean-Noël Bastie 1 collaboration

Laurent Delva 1 collaboration

Eric Solary 1 collaboration

Betty Bonfante 1 collaboration

Pierre Faux 1 collaboration

Javier Mendoza-Revilla 1 collaboration

Emma Wentworth 1 collaboration

Lauriane Poloni 1 collaboration

Ceferino Varón-González 1 collaboration

Philip Jones 1 collaboration

Ziyi Xiong 1 collaboration

Macarena Fuentes-Guajardo 1 collaboration

Sagnik Palmal 1 collaboration

Juan Camilo Chacón-Duque 1 collaboration

Malena Hurtado 1 collaboration

Valeria Villegas 1 collaboration

Vanessa Granja 1 collaboration

Claudia Jaramillo 1 collaboration

William Arias 1 collaboration

Rodrigo Barquera 1 collaboration

Paola Everardo-Martínez 1 collaboration

Mirsha Sánchez-Quinto 1 collaboration

Jorge Gómez-Valdés 1 collaboration

Hugo Villamil-Ramírez 1 collaboration

Caio C Silva de Cerqueira 1 collaboration

Tábita Hünemeier 1 collaboration

Virginia Ramallo 1 collaboration

Fan Liu 1 collaboration

Seth M Weinberg 1 collaboration

John R Shaffer 1 collaboration

Evie Stergiakouli 1 collaboration

Laurence J Howe 1 collaboration

Pirro G Hysi 1 collaboration

Timothy D Spector 1 collaboration

Rolando Gonzalez-José 1 collaboration

Lavinia Schüler-Faccini 1 collaboration

Maria-Cátira Bortolini 1 collaboration

Victor Acuña-Alonzo 1 collaboration

Samuel Canizales-Quinteros 1 collaboration

Carla Gallo 1 collaboration

Giovanni Poletti 1 collaboration

Gabriel Bedoya 1 collaboration

Francisco Rothhammer 1 collaboration

Caroline Costedoat 1 collaboration

David Balding 1 collaboration

Timothy Cox 1 collaboration

Manfred Kayser 1 collaboration

Justin Cotney 1 collaboration

Kaustubh Adhikari 1 collaboration

Andrés Ruiz-Linares 1 collaboration

Dana Marafi 1 collaboration

Marjolaine Willems 1 collaboration

Bertand Isidor 1 collaboration

Solène Conrad 1 collaboration

Romano Tenconi 1 collaboration

Maria Iascone 1 collaboration

Tabib Dabir 1 collaboration

James R Lupski 1 collaboration

Nebal Waill Saadi 1 collaboration

Fowzan S Alkuraya 1 collaboration

Fatema Al Zahrani 1 collaboration

Pankaj B Agrawal 1 collaboration

Eleina England 1 collaboration

Jill A Madden 1 collaboration

Jennifer E Posey 1 collaboration

Lydie Burglen 1 collaboration

Diana Rodriguez 1 collaboration

Anne-Sophie Denomme-Pichon 1 collaboration

Affiliations

Publications (15)

Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.

Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors.

A first-in-class inhibitor of HSP110 to potentiate XPO1-targeted therapy in primary mediastinal B-cell lymphoma and classical Hodgkin lymphoma.

Vps13b is required for acrosome biogenesis through functions in Golgi dynamic and membrane trafficking.

Periodontal disorders in a cohort of patients with Cohen syndrome.

Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy.

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.

Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected.

Neutralization of HSF1 in cells from PIK3CA-related overgrowth spectrum patients blocks abnormal proliferation.

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

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.

Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia.

A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation.

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.

Réseau de co-auteurs