Aurélia Jacquette

Affiliations

Clinical Genetics Unit, Pitié Salpetrière Hospital, APHP, Paris, France.

Publications (5)

Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder.

American journal of medical genetics. Part A

Avec: Marine Tessarech , Magali Gorce , Françoise Boussion , Jean-Philippe Bault , Stéphane Triau , Majida Charif , Salim Khiaty , Benoit Delorme , Agnès Guichet , Alban Ziegler , Céline Bris , Annie Laquerrière , Catherine Fallet-Bianco , Houria Salhi , Delphine Héron , Pascal Reynier , Vincent Procaccio , Dominique Bonneau , Estelle Colin

Growth charts in Kabuki syndrome 1.

American journal of medical genetics. Part A

Avec: Valentin Ruault , Carole Corsini , Claire Duflos , Sandrine Akouete , Véra Georgescu , Mario Abaji , Yves Alembick , Eudeline Alix , Jeanne Amiel , Cyril Amouroux , Mouna Barat-Houari , Clarisse Baumann , Adeline Bonnard , Guilaine Boursier , Odile Boute , Lydie Burglen , Tiffany Busa , Marie-Pierre Cordier , Valérie Cormier-Daire , Marie-Ange Delrue , Bérénice Doray , Laurence Faivre , Mélanie Fradin , Brigitte Gilbert-Dussardier , Fabienne Giuliano , Alice Goldenberg , Svetlana Gorokhova , Delphine Héron , Bertrand Isidor , Marie-Line Jacquemont , Claire Jeandel , Didier Lacombe , Martine Le Merrer , Kim Hanh Le Quan Sang , Stanislas Lyonnet , Sylvie Manouvrier , Caroline Michot , Anne Moncla , Sébastien Moutton , Sylvie Odent , Anna Pelet , Nicole Philip , Lucile Pinson , Julie Reversat , Joëlle Roume , Elodie Sanchez , Damien Sanlaville , Pierre Sarda , Elise Schaefer , Marianne Till , Isabelle Touitou , Annick Toutain , Marjolaine Willems , Vincent Gatinois , David Geneviève

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

NPJ genomic medicine

Avec: Anne-Claude Tabet , Thomas Rolland , Marie Ducloy , Jonathan Lévy , Julien Buratti , Alexandre Mathieu , Damien Haye , Laurence Perrin , Céline Dupont , Sandrine Passemard , Yline Capri , Alain Verloes , Séverine Drunat , Boris Keren , Cyril Mignot , Isabelle Marey , Sandra Whalen , Eva Pipiras , Brigitte Benzacken , Sandra Chantot-Bastaraud , Alexandra Afenjar , Delphine Héron , Cédric Le Caignec , Claire Beneteau , Olivier Pichon , Bertrand Isidor , Albert David , Laila El Khattabi , Stephan Kemeny , Laetitia Gouas , Philippe Vago , Anne-Laure Mosca-Boidron , Laurence Faivre , Chantal Missirian , Nicole Philip , Damien Sanlaville , Patrick Edery , Véronique Satre , Charles Coutton , Françoise Devillard , Klaus Dieterich , Marie-Laure Vuillaume , Caroline Rooryck , Didier Lacombe , Lucile Pinson , Vincent Gatinois , Jacques Puechberty , Jean Chiesa , James Lespinasse , Christèle Dubourg , Chloé Quelin , Mélanie Fradin , Hubert Journel , Annick Toutain , Dominique Martin , Abdelamdjid Benmansour , Claire S Leblond , Roberto Toro , Frédérique Amsellem , Richard Delorme , Thomas Bourgeron

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

Journal of medical genetics

Avec: Martin Chevarin , Yannis Duffourd , Rebecca A Barnard , Sébastien Moutton , François Lecoquierre , Fatma Daoud , Paul Kuentz , Caroline Cabret , Julien Thevenon , Elodie Gautier , Patrick Callier , Judith St-Onge , Thibaud Jouan , Didier Lacombe , Marie Ange Delrue , Cyril Goizet , Fanny Morice-Picard , Julien Van-Gils , Arnold Munnich , Stanislas Lyonnet , Valérie Cormier-Daire , Geneviève Baujat , Muriel Holder , Florence Petit , Bruno Leheup , Sylvie Odent , Pierre-Simon Jouk , Gipsy Lopez , David Geneviève , Patrick Collignon , Dominique Martin-Coignard , Laurence Perrin , Audrey Putoux , Elisabeth Sarrazin , Khadija Amarof , Isabelle Missotte , Christine Coubes , Sujatha Jagadeesh , Elisabetta Lapi , Florence Demurger , Alice Goldenberg , Martine Doco-Fenzy , Cyril Mignot , Delphine Héron , Nolwenn Jean-Marçais , Alice Masurel , Salima El Chehadeh , Nathalie Marle , Frédéric Huet , Christine Binquet , Gwenaëlle Collod-Beroud , Pauline Arnaud , Nadine Hanna , Catherine Boileau , Guillaume Jondeau , Robert Olaso , Doris Lechner , Charlotte Poe , Mirna Assoum , Virginie Carmignac , Laurence Duplomb , Frédéric Tran Mau-Them , Christophe Philippe , Antonio Vitobello , Ange-Line Bruel , Anne Boland , Jean-François Deleuze , Christel Thauvin-Robinet , Jean-Baptiste Rivière , Brian J O'Roak , Laurence Faivre

Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt.

European journal of human genetics : EJHG

Avec: Flavien Rouxel , Kevin Yauy , Guilaine Boursier , Vincent Gatinois , Mouna Barat-Houari , Elodie Sanchez , Didier Lacombe , Stéphanie Arpin , Fabienne Giuliano , Damien Haye , Marlène Rio , Annick Toutain , Klaus Dieterich , Elise Brischoux-Boucher , Sophie Julia , Mathilde Nizon , Alexandra Afenjar , Boris Keren , Aurelia Jacquette , Sebastien Moutton , Marie-Line Jacquemont , Claire Duflos , Yline Capri , Jeanne Amiel , Patricia Blanchet , Stanislas Lyonnet , Damien Sanlaville , David Genevieve

Réseau de co-auteurs

Delphine Héron 4 collaborations

Didier Lacombe 4 collaborations

Laurence Faivre 3 collaborations

Stanislas Lyonnet 3 collaborations

Damien Sanlaville 3 collaborations

Annick Toutain 3 collaborations

Vincent Gatinois 3 collaborations

Claire Duflos 2 collaborations

Jeanne Amiel 2 collaborations

Mouna Barat-Houari 2 collaborations

Guilaine Boursier 2 collaborations

Valérie Cormier-Daire 2 collaborations

Mélanie Fradin 2 collaborations

Fabienne Giuliano 2 collaborations

Alice Goldenberg 2 collaborations

Bertrand Isidor 2 collaborations

Marie-Line Jacquemont 2 collaborations

Sébastien Moutton 2 collaborations

Sylvie Odent 2 collaborations

Nicole Philip 2 collaborations

Lucile Pinson 2 collaborations

Elodie Sanchez 2 collaborations

David Geneviève 2 collaborations

Damien Haye 2 collaborations

Laurence Perrin 2 collaborations

Yline Capri 2 collaborations

Boris Keren 2 collaborations

Cyril Mignot 2 collaborations

Alexandra Afenjar 2 collaborations

Klaus Dieterich 2 collaborations

Marine Tessarech 1 collaboration

Magali Gorce 1 collaboration

Françoise Boussion 1 collaboration

Jean-Philippe Bault 1 collaboration

Stéphane Triau 1 collaboration

Majida Charif 1 collaboration

Salim Khiaty 1 collaboration

Benoit Delorme 1 collaboration

Agnès Guichet 1 collaboration

Alban Ziegler 1 collaboration

Céline Bris 1 collaboration

Annie Laquerrière 1 collaboration

Catherine Fallet-Bianco 1 collaboration

Houria Salhi 1 collaboration

Pascal Reynier 1 collaboration

Vincent Procaccio 1 collaboration

Dominique Bonneau 1 collaboration

Estelle Colin 1 collaboration

Valentin Ruault 1 collaboration

Carole Corsini 1 collaboration

Sandrine Akouete 1 collaboration

Véra Georgescu 1 collaboration

Mario Abaji 1 collaboration

Yves Alembick 1 collaboration

Eudeline Alix 1 collaboration

Cyril Amouroux 1 collaboration

Clarisse Baumann 1 collaboration

Adeline Bonnard 1 collaboration

Odile Boute 1 collaboration

Lydie Burglen 1 collaboration

Tiffany Busa 1 collaboration

Marie-Pierre Cordier 1 collaboration

Marie-Ange Delrue 1 collaboration

Bérénice Doray 1 collaboration

Brigitte Gilbert-Dussardier 1 collaboration

Svetlana Gorokhova 1 collaboration

Claire Jeandel 1 collaboration

Martine Le Merrer 1 collaboration

Kim Hanh Le Quan Sang 1 collaboration

Sylvie Manouvrier 1 collaboration

Caroline Michot 1 collaboration

Anne Moncla 1 collaboration

Anna Pelet 1 collaboration

Julie Reversat 1 collaboration

Joëlle Roume 1 collaboration

Pierre Sarda 1 collaboration

Elise Schaefer 1 collaboration

Marianne Till 1 collaboration

Isabelle Touitou 1 collaboration

Marjolaine Willems 1 collaboration

Anne-Claude Tabet 1 collaboration

Thomas Rolland 1 collaboration

Marie Ducloy 1 collaboration

Jonathan Lévy 1 collaboration

Julien Buratti 1 collaboration

Alexandre Mathieu 1 collaboration

Céline Dupont 1 collaboration

Sandrine Passemard 1 collaboration

Alain Verloes 1 collaboration

Séverine Drunat 1 collaboration

Isabelle Marey 1 collaboration

Sandra Whalen 1 collaboration

Eva Pipiras 1 collaboration

Brigitte Benzacken 1 collaboration

Sandra Chantot-Bastaraud 1 collaboration

Cédric Le Caignec 1 collaboration

Claire Beneteau 1 collaboration

Olivier Pichon 1 collaboration

Albert David 1 collaboration

Laila El Khattabi 1 collaboration

Stephan Kemeny 1 collaboration

Laetitia Gouas 1 collaboration

Philippe Vago 1 collaboration

Anne-Laure Mosca-Boidron 1 collaboration

Chantal Missirian 1 collaboration

Patrick Edery 1 collaboration

Véronique Satre 1 collaboration

Charles Coutton 1 collaboration

Françoise Devillard 1 collaboration

Marie-Laure Vuillaume 1 collaboration

Caroline Rooryck 1 collaboration

Jacques Puechberty 1 collaboration

Jean Chiesa 1 collaboration

James Lespinasse 1 collaboration

Christèle Dubourg 1 collaboration

Chloé Quelin 1 collaboration

Hubert Journel 1 collaboration

Dominique Martin 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

Martin Chevarin 1 collaboration

Yannis Duffourd 1 collaboration

Rebecca A Barnard 1 collaboration

François Lecoquierre 1 collaboration

Fatma Daoud 1 collaboration

Paul Kuentz 1 collaboration

Caroline Cabret 1 collaboration

Julien Thevenon 1 collaboration

Elodie Gautier 1 collaboration

Patrick Callier 1 collaboration

Judith St-Onge 1 collaboration

Thibaud Jouan 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

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

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

Martine Doco-Fenzy 1 collaboration

Nolwenn Jean-Marçais 1 collaboration

Alice Masurel 1 collaboration

Salima El Chehadeh 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

Robert Olaso 1 collaboration

Doris Lechner 1 collaboration

Charlotte Poe 1 collaboration

Mirna Assoum 1 collaboration

Virginie Carmignac 1 collaboration

Laurence Duplomb 1 collaboration

Frédéric Tran Mau-Them 1 collaboration

Christophe Philippe 1 collaboration

Antonio Vitobello 1 collaboration

Ange-Line Bruel 1 collaboration

Anne Boland 1 collaboration

Jean-François Deleuze 1 collaboration

Christel Thauvin-Robinet 1 collaboration

Jean-Baptiste Rivière 1 collaboration

Brian J O'Roak 1 collaboration

Flavien Rouxel 1 collaboration

Kevin Yauy 1 collaboration

Stéphanie Arpin 1 collaboration

Marlène Rio 1 collaboration

Elise Brischoux-Boucher 1 collaboration

Sophie Julia 1 collaboration

Mathilde Nizon 1 collaboration

Aurelia Jacquette 1 collaboration

Sebastien Moutton 1 collaboration

Patricia Blanchet 1 collaboration

David Genevieve 1 collaboration