Julien Buratti

Boris Keren 14 collaborations

Cyril Mignot 8 collaborations

Caroline Nava 7 collaborations

Sandra Whalen 5 collaborations

Laurence Faivre 5 collaborations

Christel Depienne 4 collaborations

Mark A Corbett 3 collaborations

Eric Leguern 3 collaborations

Ingo Helbig 3 collaborations

Jozef Gecz 3 collaborations

Jean-Madeleine de Sainte Agathe 3 collaborations

Lionel Arnaud 3 collaborations

Gaetan Lesca 3 collaborations

Anne-Sophie Denommé-Pichon 3 collaborations

Antonio Vitobello 3 collaborations

Elodie Lejeune 3 collaborations

Christel Thauvin-Robinet 3 collaborations

Delphine Héron 3 collaborations

Ange-Line Bruel 3 collaborations

Lise Larcher 2 collaborations

Thessa Kroes 2 collaborations

Mark F Bennett 2 collaborations

Sabine Kaya 2 collaborations

Anne-Fleur van Rootselaar 2 collaborations

Sylvie Forlani 2 collaborations

Gabrielle Rudolf 2 collaborations

Edouard Hirsch 2 collaborations

Pierre Labauge 2 collaborations

Marina A J Tijssen 2 collaborations

Karl Martin Klein 2 collaborations

Arn M J M van den Maagdenberg 2 collaborations

Federico Zara 2 collaborations

Renzo Guerrini 2 collaborations

Melanie Bahlo 2 collaborations

Pasquale Striano 2 collaborations

Delphine Bouteiller 2 collaborations

Jean-François Deleuze 2 collaborations

Alexandre Mathieu 2 collaborations

Thomas Bourgeron 2 collaborations

Ingo Kurth 2 collaborations

None None 2 collaborations

Eric LeGuern 2 collaborations

Diane Doummar 2 collaborations

Julie S Cohen 2 collaborations

Giulia Barcia 2 collaborations

Laurent Villard 2 collaborations

Sarah Weckhuysen 2 collaborations

Elena Gardella 2 collaborations

Allan Bayat 2 collaborations

Thomas Courtin 2 collaborations

Amélie Piton 2 collaborations

Sébastien Moutton 2 collaborations

Christine Coubes 2 collaborations

Alexandra Afenjar 2 collaborations

Diana Rodriguez 2 collaborations

Delphine Heron 2 collaborations

Katherine L Helbig 2 collaborations

Rikke S Møller 2 collaborations

Yline Capri 2 collaborations

Solveig Heide 2 collaborations

Marie-Line Jacquemont 2 collaborations

Marilyn Tallot 2 collaborations

Charles E Schwartz 2 collaborations

Yannis Duffourd 2 collaborations

Sophie Nambot 2 collaborations

Frédéric Tran Mau-Them 2 collaborations

Christophe Philippe 2 collaborations

Patrick Edery 2 collaborations

Audrey Putoux 2 collaborations

Thierry Bienvenu 2 collaborations

Bénédicte Héron-Longe 1 collaboration

Brigitte Benzacken 1 collaboration

Eva Pipiras 1 collaboration

Andrée Delahaye-Duriez 1 collaboration

Liana Veneziano 1 collaboration

Rahel Florian 1 collaboration

Amy L Schneider 1 collaboration

Antonietta Coppola 1 collaboration

Laura Licchetta 1 collaboration

Silvana Franceschetti 1 collaboration

Antonio Suppa 1 collaboration

Aaron Wenger 1 collaboration

Davide Mei 1 collaboration

Manuela Pendziwiat 1 collaboration

Massimo Delledonne 1 collaboration

Rachel Straussberg 1 collaboration

Luciano Xumerle 1 collaboration

Brigid Regan 1 collaboration

Douglas Crompton 1 collaboration

Anthony Correll 1 collaboration

Rachael Catford 1 collaboration

Francesca Bisulli 1 collaboration

Shreyasee Chakraborty 1 collaboration

Sara Baldassari 1 collaboration

Paolo Tinuper 1 collaboration

Kirston Barton 1 collaboration

Shaun Carswell 1 collaboration

Martin Smith 1 collaboration

Alfredo Berardelli 1 collaboration

Renee Carroll 1 collaboration

Alison Gardner 1 collaboration

Kathryn L Friend 1 collaboration

Ilan Blatt 1 collaboration

Michele Iacomino 1 collaboration

Carlo Di Bonaventura 1 collaboration

Salvatore Striano 1 collaboration

Simona Balestrini 1 collaboration

Josemir W Sander 1 collaboration

Zaid Afawi 1 collaboration

Hiroyuki Ishiura 1 collaboration

Shoji Tsuji 1 collaboration

Sanjay M Sisodiya 1 collaboration

Giorgio Casari 1 collaboration

Lynette G Sadleir 1 collaboration

Riaan van Coller 1 collaboration

Samuel F Berkovic 1 collaboration

Tommaso Pippucci 1 collaboration

Laura Canafoglia 1 collaboration

Ingrid E Scheffer 1 collaboration

Francesco Brancati 1 collaboration

Sandra Mercier 1 collaboration

Jean-Yves Mahé 1 collaboration

Yann Péréon 1 collaboration

Laurène Tissier 1 collaboration

Bophara Kol 1 collaboration

Samia Ait Said 1 collaboration

Éric Leguern 1 collaboration

Guillaume Banneau 1 collaboration

Giovanni Stévanin 1 collaboration

Cécile Saint-Martin 1 collaboration

Marine Cauchois-Le Mière 1 collaboration

Emily Rex 1 collaboration

Omar Soukarieh 1 collaboration

Jean-Baptiste Arnoux 1 collaboration

Delphine Bouvet 1 collaboration

Thierry Frébourg 1 collaboration

Pascaline Gaildrat 1 collaboration

Show-Ling Shyng 1 collaboration

Christine Bellanné-Chantelot 1 collaboration

Alexandra Martins 1 collaboration

Raffaella Moretti 1 collaboration

Oriane Trouillard 1 collaboration

Patricia Moreau 1 collaboration

Agnès Rastetter 1 collaboration

Vincent Des Portes 1 collaboration

Joseph Toulouse 1 collaboration

Isabelle Gourfinkel-An 1 collaboration

David B Beck 1 collaboration

Ana Petracovici 1 collaboration

Chongsheng He 1 collaboration

Hannah W Moore 1 collaboration

Raymond J Louie 1 collaboration

Muhammad Ansar 1 collaboration

Sofia Douzgou 1 collaboration

Sivagamy Sithambaram 1 collaboration

Trudie Cottrell 1 collaboration

Regie Lyn P Santos-Cortez 1 collaboration

Eloise J Prijoles 1 collaboration

Renee Bend 1 collaboration

Marie-Christine Nougues 1 collaboration

Katrin Õunap 1 collaboration

Tiia Reimand 1 collaboration

Sander Pajusalu 1 collaboration

Muhammad Zahid 1 collaboration

Muhammad Arif Nadeem Saqib 1 collaboration

Eleanor G Seaby 1 collaboration

Kirsty McWalter 1 collaboration

Aida Telegrafi 1 collaboration

Dustin Baldridge 1 collaboration

Marwan Shinawi 1 collaboration

Suzanne M Leal 1 collaboration

G Bradley Schaefer 1 collaboration

Roger E Stevenson 1 collaboration

Siddharth Banka 1 collaboration

Roberto Bonasio 1 collaboration

Jill A Fahrner 1 collaboration

Rahel T Florian 1 collaboration

Florian Kraft 1 collaboration

Elsa Leitão 1 collaboration

Stephan Klebe 1 collaboration

Eloi Magnin 1 collaboration

Theresa Kühnel 1 collaboration

Christopher Schröder 1 collaboration

Sebastian Giesselmann 1 collaboration

Nikolai Tschernoster 1 collaboration

Janine Altmueller 1 collaboration

Anaide Lamiral 1 collaboration

Ludmila Jornea 1 collaboration

Regina Kubica 1 collaboration

Tao Ye 1 collaboration

Damien Plassard 1 collaboration

Bernard Jost 1 collaboration

Vincent Meyer 1 collaboration

Yannick Delpu 1 collaboration

Mario D M Avarello 1 collaboration

Lisanne S Vijfhuizen 1 collaboration

Philipp S Reif 1 collaboration

Felix Rosenow 1 collaboration

Christos Ganos 1 collaboration

Marie Vidailhet 1 collaboration

Lionel Thivard 1 collaboration

Haloom Rafehi 1 collaboration

Laura Steenpass 1 collaboration

Bernhard Horsthemke 1 collaboration

Sheng Chih Jin 1 collaboration

Sara A Lewis 1 collaboration

Somayeh Bakhtiari 1 collaboration

Xue Zeng 1 collaboration

Michael C Sierant 1 collaboration

Sheetal Shetty 1 collaboration

Sandra M Nordlie 1 collaboration

Aureliane Elie 1 collaboration

Bethany Y Norton 1 collaboration

Clare L van Eyk 1 collaboration

Shozeb Haider 1 collaboration

Brandon S Guida 1 collaboration

Helen Magee 1 collaboration

James Liu 1 collaboration

Stephen Pastore 1 collaboration

John B Vincent 1 collaboration

Janice Brunstrom-Hernandez 1 collaboration

Antigone Papavasileiou 1 collaboration

Michael C Fahey 1 collaboration

Jesia G Berry 1 collaboration

Kelly Harper 1 collaboration

Chongchen Zhou 1 collaboration

Junhui Zhang 1 collaboration

Boyang Li 1 collaboration

Hongyu Zhao 1 collaboration

Jennifer Heim 1 collaboration

Dani L Webber 1 collaboration

Mahalia S B Frank 1 collaboration

Lei Xia 1 collaboration

Yiran Xu 1 collaboration

Dengna Zhu 1 collaboration

Bohao Zhang 1 collaboration

Amar H Sheth 1 collaboration

James R Knight 1 collaboration

Christopher Castaldi 1 collaboration

Irina R Tikhonova 1 collaboration

Francesc López-Giráldez 1 collaboration

Megan Cho 1 collaboration

Kyle Retterer 1 collaboration

Francisca Millan 1 collaboration

Yangong Wang 1 collaboration

Jeff L Waugh 1 collaboration

Lance Rodan 1 collaboration

Ali Fatemi 1 collaboration

Angela E Lin 1 collaboration

John P Phillips 1 collaboration

Timothy Feyma 1 collaboration

Suzanna C MacLennan 1 collaboration

Spencer Vaughan 1 collaboration

Kylie E Crompton 1 collaboration

Susan M Reid 1 collaboration

Dinah S Reddihough 1 collaboration

Qing Shang 1 collaboration

Chao Gao 1 collaboration

Iona Novak 1 collaboration

Nadia Badawi 1 collaboration

Yana A Wilson 1 collaboration

Sarah J McIntyre 1 collaboration

Shrikant M Mane 1 collaboration

Xiaoyang Wang 1 collaboration

David J Amor 1 collaboration

Daniela C Zarnescu 1 collaboration

Qiongshi Lu 1 collaboration

Qinghe Xing 1 collaboration

Changlian Zhu 1 collaboration

Kaya Bilguvar 1 collaboration

Sergio Padilla-Lopez 1 collaboration

Richard P Lifton 1 collaboration

Alastair H MacLennan 1 collaboration

Michael C Kruer 1 collaboration

Marion Aubert Mucca 1 collaboration

Olivier Patat 1 collaboration

Benjamin Cogné 1 collaboration

Caroline Karsenty 1 collaboration

Sandra Kenis 1 collaboration

Mathilde Nizon 1 collaboration

Amelie Piton 1 collaboration

Stéphanie Valence 1 collaboration

Katrine M Johannesen 1 collaboration

Cathrine E Gjerulfsen 1 collaboration

Rob P W Rouhl 1 collaboration

Margot Reijnders 1 collaboration

Klaas J Wierenga 1 collaboration

Bertrand Isidor 1 collaboration

Aurore Garde 1 collaboration

Frédéric Tran-Mau-Them 1 collaboration

Austin Larson 1 collaboration

Michael J Esser 1 collaboration

Juan Pablo Appendino 1 collaboration

Walla Al-Hertani 1 collaboration

Beatriz Gamboni 1 collaboration

Alejandra Mampel 1 collaboration

Lía Mayorga 1 collaboration

Alessandro Orsini 1 collaboration

Alice Bonuccelli 1 collaboration

Agnese Suppiej 1 collaboration

Julien Van-Gils 1 collaboration

Julie Vogt 1 collaboration

Simona Damioli 1 collaboration

Lucio Giordano 1 collaboration

Stephanie Moortgat 1 collaboration

Elaine Wirrell 1 collaboration

Sarah Hicks 1 collaboration

Usha Kini 1 collaboration

Nathan Noble 1 collaboration

Helen Stewart 1 collaboration

Shailesh Asakar 1 collaboration

SakkuBai R Naidu 1 collaboration

Ashley Collier 1 collaboration

Eva H Brilstra 1 collaboration

Mindy H Li 1 collaboration

Casey Brew 1 collaboration

Stefania Bigoni 1 collaboration

Davide Ognibene 1 collaboration

Elisa Ballardini 1 collaboration

Claudia Ruivenkamp 1 collaboration

Raffaella Faggioli 1 collaboration

David Bick 1 collaboration

Devorah Segal 1 collaboration

David Coman 1 collaboration

Boudewijn Gunning 1 collaboration

Orrin Devinsky 1 collaboration

Laurie A Demmer 1 collaboration

Theresa Grebe 1 collaboration

Dario Pruna 1 collaboration

Ida Cursio 1 collaboration

Lynn Greenhalgh 1 collaboration

Claudio Graziano 1 collaboration

Rahul Raman Singh 1 collaboration

Gaetano Cantalupo 1 collaboration

Marjolaine Willems 1 collaboration

Sangeetha Yoganathan 1 collaboration

Fernanda Góes 1 collaboration

Richard J Leventer 1 collaboration

Davide Colavito 1 collaboration

Sara Olivotto 1 collaboration

Barbara Scelsa 1 collaboration

Andrea V Andrade 1 collaboration

Kelly Ratke 1 collaboration

Farha Tokarz 1 collaboration

Atiya S Khan 1 collaboration

Clothilde Ormieres 1 collaboration

William Benko 1 collaboration

Karen Keough 1 collaboration

Sotirios Keros 1 collaboration

Shanawaz Hussain 1 collaboration

Ashlea Franques 1 collaboration

Felicia Varsalone 1 collaboration

Sabine Grønborg 1 collaboration

Arnaud Isapof 1 collaboration

Felippe Borlot 1 collaboration

Robyn Whitney 1 collaboration

Anne Ronan 1 collaboration

Nicola Foulds 1 collaboration

Marta Somorai 1 collaboration

John Brandsema 1 collaboration

Xilma R Ortiz-González 1 collaboration

Holly Dubbs 1 collaboration

Mel Anderson 1 collaboration

Dominic Spadafore 1 collaboration

David Hunt 1 collaboration

Guido Rubboli 1 collaboration

Marion Lesieur-Sebellin 1 collaboration

Margot Grisval 1 collaboration

Augustine Burtz 1 collaboration

Julien Thevenon 1 collaboration

David Cheillan 1 collaboration

Michel Renouil 1 collaboration

Juliette Miquel 1 collaboration

Marc Bintner 1 collaboration

Françoise Darcel 1 collaboration

Damien Haye 1 collaboration

Sandrine Passemard 1 collaboration

Domitille Gras 1 collaboration

Laurence Perrin 1 collaboration

Bénédicte Gérard 1 collaboration

Charlotte Poe 1 collaboration

Anne Pervillé 1 collaboration

Julien Thévenon 1 collaboration

Lorita La Selva 1 collaboration

Annalisa Vetro 1 collaboration

Benoit Mazel 1 collaboration

Vera G Lelianova 1 collaboration

Alice Zangrandi 1 collaboration

Evelina Petitto 1 collaboration

Jason Suckling 1 collaboration

Vincenzo Salpietro 1 collaboration

Robert Meyer 1 collaboration

Miriam Elbracht 1 collaboration

Thomas Eggermann 1 collaboration

Ouafa Benlaouer 1 collaboration

Gurprit Lall 1 collaboration

Alexander G Tonevitsky 1 collaboration

Daryl A Scott 1 collaboration

Katie M Chan 1 collaboration

Jill A Rosenfeld 1 collaboration

Hana Safraou 1 collaboration

Hui Guo 1 collaboration

Andrea K Petersen 1 collaboration

Leslie Granger 1 collaboration

Amy Crunk 1 collaboration

Marcello Scala 1 collaboration

Quentin Thomas 1 collaboration

Andrée Delahaye 1 collaboration

Serguei V Kozlov 1 collaboration

Yuri Ushkaryov 1 collaboration

Mathieu Georget 1 collaboration

Euphrasie Servant 1 collaboration

Eric le Guern 1 collaboration

Eléonore Viora-Dupont 1 collaboration

Françoise Robert 1 collaboration

Aline Chassagne 1 collaboration

Aurore Pélissier 1 collaboration

Stéphanie Staraci 1 collaboration

Damien Sanlaville 1 collaboration

Linda Pons 1 collaboration

Amandine Cadenes 1 collaboration

Amandine Baurand 1 collaboration

Caroline Sawka 1 collaboration

Geoffrey Bertolone 1 collaboration

Myrtille Spetchian 1 collaboration

Meriem Yousfi 1 collaboration

Dominique Salvi 1 collaboration

Elodie Gautier 1 collaboration

Anne Faudet 1 collaboration

Audrey Labalme 1 collaboration

Nicolas Chatron 1 collaboration

Carine Abel 1 collaboration

Sophie Dupuis-Girod 1 collaboration

Alice Poisson 1 collaboration

Perrine Charles 1 collaboration

Linda Mouthon 1 collaboration

Arthur Sorlin 1 collaboration

Anne-Sophie Briffaut 1 collaboration

Marie-Laure Asensio 1 collaboration

Massimiliano Rossi 1 collaboration

Nicolas Meunier-Bellard 1 collaboration

Marcela Gargiulo 1 collaboration

Christine Peyron 1 collaboration

Christine Binquet 1 collaboration

Claire S Leblond 1 collaboration

Freddy Cliquet 1 collaboration

Coralie Carton 1 collaboration

Guillaume Huguet 1 collaboration

Thomas Kergrohen 1 collaboration

Nathalie Lemière 1 collaboration

Laurence Cuisset 1 collaboration

Anne Boland 1 collaboration

Tormodur Stora 1 collaboration

Rannva Biskupstoe 1 collaboration

Jónrit Halling 1 collaboration

Guðrið Andorsdóttir 1 collaboration

Eva Billstedt 1 collaboration

Christopher Gillberg 1 collaboration

Joy W Norris 1 collaboration

Catherine Garel 1 collaboration

Aoife C McMahon 1 collaboration

Claire Bar 1 collaboration

Philippe M Campeau 1 collaboration

Claire Davidson 1 collaboration

Mathieu Milh 1 collaboration

Pauline Marzin 1 collaboration

Christine Barnerias 1 collaboration

Claude Besmond 1 collaboration

Ledia Brunga 1 collaboration

Berten Ceulemans 1 collaboration

Ana G Cristancho 1 collaboration

Fiona Cunningham 1 collaboration

Marie-Bertille Dehouck 1 collaboration

Elizabeth J Donner 1 collaboration

Bénédicte Duban-Bedu 1 collaboration

Christèle Dubourg 1 collaboration

Julie Gauthier 1 collaboration

David Geneviève 1 collaboration

Stéphanie Gobin-Limballe 1 collaboration

Ethan M Goldberg 1 collaboration

Eveline Hagebeuk 1 collaboration

Fadi F Hamdan 1 collaboration

Miroslava Hančárová 1 collaboration

Laurence Hubert 1 collaboration

Christine Ioos 1 collaboration

Shoji Ichikawa 1 collaboration

Sandra Janssens 1 collaboration

Hubert Journel 1 collaboration

Anna Kaminska 1 collaboration

Marije Koopmans 1 collaboration

Caroline Lacoste 1 collaboration

Petra Laššuthová 1 collaboration

Damien Lederer 1 collaboration

Daphné Lehalle 1 collaboration

Dragan Marjanovic 1 collaboration

Julia Métreau 1 collaboration

Jacques L Michaud 1 collaboration

Kathryn Miller 1 collaboration

Berge A Minassian 1 collaboration

Joannella Morales 1 collaboration

Marie-Laure Moutard 1 collaboration

Arnold Munnich 1 collaboration

Xilma R Ortiz-Gonzalez 1 collaboration

Jean-Marc Pinard 1 collaboration

Darina Prchalová 1 collaboration

Chloé Quelin 1 collaboration

Alyssa R Rosen 1 collaboration

Joelle Roume 1 collaboration

Elsa Rossignol 1 collaboration

Marleen E H Simon 1 collaboration

Thomas Smol 1 collaboration

Natasha Shur 1 collaboration

Ivan Shelihan 1 collaboration

Katalin Štěrbová 1 collaboration

Emílie Vyhnálková 1 collaboration

Catheline Vilain 1 collaboration

Julie Soblet 1 collaboration

Guillaume Smits 1 collaboration

Samuel P Yang 1 collaboration

Jasper J van der Smagt 1 collaboration

Peter M van Hasselt 1 collaboration

Marjan van Kempen 1 collaboration

Bobby Koeleman 1 collaboration

Rima Nabbout 1 collaboration

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Affiliations

Publications (18)

New evidence that biallelic loss of function in EEF1B2 gene leads to intellectual disability.

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

RNF170-Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation.

Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism.

SCN1A-related epilepsy with recessive inheritance: Two further families.

Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.

Patients with

Phenotype associated with TAF2 biallelic mutations: A clinical description of four individuals and review of the literature.

GM3 synthase deficiency in non-Amish patients.

ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.

Loss of function of ADNP by an intragenic inversion.

Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).

Both rare and common genetic variants contribute to autism in the Faroe Islands.

The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndrome.

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

Réseau de co-auteurs