Isabelle Marey

Affiliations
  • Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP, Paris, France.

Publications (16)

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

American journal of human genetics
Avec: Dmitrijs Rots , Sanaa Choufani , Victor Faundes , Alexander J M Dingemans , Shelagh Joss , Nicola Foulds , Elizabeth A Jones , Sarah Stewart , Pradeep Vasudevan , Tabib Dabir , Soo-Mi Park , Rosalyn Jewell , Natasha Brown , Lynn Pais , Sébastien Jacquemont , Khadijé Jizi , Conny M A van Ravenswaaij-Arts , Hester Y Kroes , Constance T R M Stumpel , Charlotte W Ockeloen , Illja J Diets , Mathilde Nizon , Marie Vincent , Benjamin Cogné , Thomas Besnard , Marios Kambouris , Emily Anderson , Elaine H Zackai , Carey McDougall , Sarah Donoghue , Anne O'Donnell-Luria , Zaheer Valivullah , Melanie O'Leary , Siddharth Srivastava , Heather Byers , Nancy Leslie , Sarah Mazzola , George E Tiller , Moin Vera , Joseph J Shen , Richard Boles , Vani Jain , Elise Brischoux-Boucher , Esther Kinning , Brittany N Simpson , Jacques C Giltay , Jacqueline Harris , Boris Keren , Anne Guimier , Pierre Marijon , Bert B A de Vries , Constance S Motter , Bryce A Mendelsohn , Samantha Coffino , Erica H Gerkes , Alexandra Afenjar , Paola Visconti , Elena Bacchelli , Elena Maestrini , Andree Delahaye-Duriez , Catherine Gooch , Yvonne Hendriks , Hieab Adams , Christel Thauvin-Robinet , Sarah Josephi-Taylor , Marta Bertoli , Michael J Parker , Julie W Rutten , Oana Caluseriu , Hilary J Vernon , Jonah Kaziyev , Jia Zhu , Jessica Kremen , Zoe Frazier , Hailey Osika , David Breault , Sreelata Nair , Suzanne M E Lewis , Fabiola Ceroni , Marta Viggiano , Annio Posar , Helen Brittain , Traficante Giovanna , Gori Giulia , Lina Quteineh , Russia Ha-Vinh Leuchter , Evelien Zonneveld-Huijssoon , Cecilia Mellado , Alicia Coudert , Mariana Inés Aracena Alvarez , Milou G P Kennis , Arianne Bouman , Maian Roifman , María Inmaculada Amorós Rodríguez , Juan Dario Ortigoza-Escobar , Vivian Vernimmen , Margje Sinnema , Rolph Pfundt , Han G Brunner , Lisenka E L M Vissers , Tjitske Kleefstra , Rosanna Weksberg , Siddharth Banka

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Ash Zawerton , Cyril Mignot , Ashley Sigafoos , Patrick R Blackburn , Abdul Haseeb , Kirsty McWalter , Shoji Ichikawa , Caroline Nava , Boris Keren , Perrine Charles , Anne-Claude Tabet , Jonathan Levy , Laurence Perrin , Andreas Hartmann , Gaetan Lesca , Caroline Schluth-Bolard , Pauline Monin , Sophie Dupuis-Girod , Maria J Guillen Sacoto , Rhonda E Schnur , Zehua Zhu , Alice Poisson , Salima El Chehadeh , Yves Alembik , Ange-Line Bruel , Daphné Lehalle , Sophie Nambot , Sébastien Moutton , Sylvie Odent , Sylvie Jaillard , Christèle Dubourg , Yvonne Hilhorst-Hofstee , Tina Barbaro-Dieber , Lucia Ortega , Elizabeth J Bhoj , Diane Masser-Frye , Lynne M Bird , Kristin Lindstrom , Keri M Ramsey , Vinodh Narayanan , Emily Fassi , Marcia Willing , Trevor Cole , Claire G Salter , Rhoda Akilapa , Anthony Vandersteen , Natalie Canham , Patrick Rump , Erica H Gerkes , Jolien S Klein Wassink-Ruiter , Emilia Bijlsma , Mariëtte J V Hoffer , Marcelo Vargas , Antonina Wojcik , Florian Cherik , Christine Francannet , Jill A Rosenfeld , Keren Machol , Daryl A Scott , Carlos A Bacino , Xia Wang , Gary D Clark , Marta Bertoli , Simon Zwolinski , Rhys H Thomas , Ela Akay , Richard C Chang , Rebekah Bressi , Rossana Sanchez Russo , Myriam Srour , Laura Russell , Anne-Marie E Goyette , Lucie Dupuis , Roberto Mendoza-Londono , Catherine Karimov , Maries Joseph , Mathilde Nizon , Benjamin Cogné , Alma Kuechler , Amélie Piton , Auteur inconnu , Eric W Klee , Véronique Lefebvre , Karl J Clark , Christel Depienne

Réseau de co-auteurs

Boris Keren 8 collaborations
Alexandra Afenjar 6 collaborations
Cyril Mignot 6 collaborations
Nathalie Dorison 4 collaborations
Salima El Chehadeh 4 collaborations
Sylvie Odent 4 collaborations
Bertrand Isidor 4 collaborations
Clotilde Mircher 3 collaborations
Silvia Sacco 3 collaborations
Aimé Ravel 3 collaborations
Mathilde Nizon 3 collaborations
Erica H Gerkes 3 collaborations
Gaetan Lesca 3 collaborations
Alice Poisson 3 collaborations
Laurence Faivre 3 collaborations
Alice Goldenberg 3 collaborations
Perrine Charles 3 collaborations
Christèle Dubourg 3 collaborations
Anne-Claude Tabet 3 collaborations
Charles Bouis 2 collaborations
Jennifer Gallard 2 collaborations
Aude Pichot 2 collaborations
Elodie Blondiaux 2 collaborations
Marie Vincent 2 collaborations
Benjamin Cogné 2 collaborations
Marta Bertoli 2 collaborations
Michael J Parker 2 collaborations
Claire Bar 2 collaborations
Giulia Barcia 2 collaborations
Mélanie Jennesson 2 collaborations
Gwenaël Le Guyader 2 collaborations
Amy Schneider 2 collaborations
Delphine Breuillard 2 collaborations
Martino Montomoli 2 collaborations
Diane Doummar 2 collaborations
Marion Gerard 2 collaborations
Hervé Isnard 2 collaborations
Sophie Dupont 2 collaborations
Patrick Berquin 2 collaborations
Pierre Meyer 2 collaborations
David Genevieve 2 collaborations
Anne De Saint Martin 2 collaborations
Jamel Chelly 2 collaborations
Agnès Guët 2 collaborations
Emmanuel Scalais 2 collaborations
Candace T Myers 2 collaborations
Heather C Mefford 2 collaborations
Katherine B Howell 2 collaborations
Jeremy L Freeman 2 collaborations
Anca Nica 2 collaborations
Gaetano Terrone 2 collaborations
Tayeb Sekhara 2 collaborations
Anne-Sophie Lebre 2 collaborations
Lynette G Sadleir 2 collaborations
Arnold Munnich 2 collaborations
Renzo Guerrini 2 collaborations
Ingrid E Scheffer 2 collaborations
Edor Kabashi 2 collaborations
Rima Nabbout 2 collaborations
Mélanie Fradin 2 collaborations
Laurent Pasquier 2 collaborations
Bruno Delobel 2 collaborations
Lydie Burglen 2 collaborations
Christine Francannet 2 collaborations
Delphine Héron 2 collaborations
Daphné Lehalle 2 collaborations
Sébastien Moutton 2 collaborations
Amélie Piton 2 collaborations
Claire Beneteau 2 collaborations
Yline Capri 2 collaborations
Ange-Line Bruel 2 collaborations
Catherine Yardin 2 collaborations
Sylvie Jaillard 2 collaborations
Jonathan Levy 2 collaborations
Laurence Perrin 2 collaborations
Yves Alembik 2 collaborations
Charles Coutton 2 collaborations
Vincent Gatinois 2 collaborations
Chantal Missirian 2 collaborations
Lucile Pinson 2 collaborations
Jacques Puechberty 2 collaborations
Damien Sanlaville 2 collaborations
Alain Verloes 2 collaborations
Marija Kojic 1 collaboration
Tomasz Gawda 1 collaboration
Monika Gaik 1 collaboration
Alexander Begg 1 collaboration
Anna Salerno-Kochan 1 collaboration
Nyoman D Kurniawan 1 collaboration
Alun Jones 1 collaboration
Katarzyna Drożdżyk 1 collaboration
Anna Kościelniak 1 collaboration
Soroor Hediyeh-Zadeh 1 collaboration
Maria Kasherman 1 collaboration
Woo Jun Shim 1 collaboration
Enakshi Sinniah 1 collaboration
Laura A Genovesi 1 collaboration
Rannvá K Abrahamsen 1 collaboration
Christina D Fenger 1 collaboration
Camilla G Madsen 1 collaboration
Julie S Cohen 1 collaboration
Ali Fatemi 1 collaboration
Zornitza Stark 1 collaboration
Sebastian Lunke 1 collaboration
Joy Lee 1 collaboration
Jonas K Hansen 1 collaboration
Martin F Boxill 1 collaboration
Margarita S Saenz 1 collaboration
Kathleen Brown 1 collaboration
Suzanne A Alexander 1 collaboration
Sergey Mureev 1 collaboration
Alina Batzilla 1 collaboration
Melissa J Davis 1 collaboration
Michael Piper 1 collaboration
Mikael Bodén 1 collaboration
Thomas H J Burne 1 collaboration
Nathan J Palpant 1 collaboration
Rikke S Møller 1 collaboration
Sebastian Glatt 1 collaboration
Brandon J Wainwright 1 collaboration
Eric Le Galloudec 1 collaboration
Cécile Cieuta 1 collaboration
Oliver Greiner-Mahler 1 collaboration
Alicia Gambarini 1 collaboration
Samantha Stora 1 collaboration
Sophie Durand 1 collaboration
Michel Polak 1 collaboration
André Baruchel 1 collaboration
Emilie Schlumberger 1 collaboration
Jean Dewailly 1 collaboration
Ahlam Azar-Kolakez 1 collaboration
Jean-Louis Guéant 1 collaboration
Didier Borderie 1 collaboration
Franck G Sturtz 1 collaboration
Dmitrijs Rots 1 collaboration
Sanaa Choufani 1 collaboration
Victor Faundes 1 collaboration
Shelagh Joss 1 collaboration
Nicola Foulds 1 collaboration
Elizabeth A Jones 1 collaboration
Sarah Stewart 1 collaboration
Pradeep Vasudevan 1 collaboration
Tabib Dabir 1 collaboration
Soo-Mi Park 1 collaboration
Rosalyn Jewell 1 collaboration
Natasha Brown 1 collaboration
Lynn Pais 1 collaboration
Sébastien Jacquemont 1 collaboration
Khadijé Jizi 1 collaboration
Hester Y Kroes 1 collaboration
Charlotte W Ockeloen 1 collaboration
Illja J Diets 1 collaboration
Thomas Besnard 1 collaboration
Marios Kambouris 1 collaboration
Emily Anderson 1 collaboration
Elaine H Zackai 1 collaboration
Carey McDougall 1 collaboration
Sarah Donoghue 1 collaboration
Anne O'Donnell-Luria 1 collaboration
Zaheer Valivullah 1 collaboration
Melanie O'Leary 1 collaboration
Siddharth Srivastava 1 collaboration
Heather Byers 1 collaboration
Nancy Leslie 1 collaboration
Sarah Mazzola 1 collaboration
George E Tiller 1 collaboration
Moin Vera 1 collaboration
Joseph J Shen 1 collaboration
Richard Boles 1 collaboration
Vani Jain 1 collaboration
Esther Kinning 1 collaboration
Brittany N Simpson 1 collaboration
Jacques C Giltay 1 collaboration
Jacqueline Harris 1 collaboration
Anne Guimier 1 collaboration
Pierre Marijon 1 collaboration
Bert B A de Vries 1 collaboration
Constance S Motter 1 collaboration
Bryce A Mendelsohn 1 collaboration
Samantha Coffino 1 collaboration
Paola Visconti 1 collaboration
Elena Bacchelli 1 collaboration
Elena Maestrini 1 collaboration
Andree Delahaye-Duriez 1 collaboration
Catherine Gooch 1 collaboration
Yvonne Hendriks 1 collaboration
Hieab Adams 1 collaboration
Sarah Josephi-Taylor 1 collaboration
Julie W Rutten 1 collaboration
Oana Caluseriu 1 collaboration
Hilary J Vernon 1 collaboration
Jonah Kaziyev 1 collaboration
Jia Zhu 1 collaboration
Jessica Kremen 1 collaboration
Zoe Frazier 1 collaboration
Hailey Osika 1 collaboration
David Breault 1 collaboration
Sreelata Nair 1 collaboration
Suzanne M E Lewis 1 collaboration
Fabiola Ceroni 1 collaboration
Marta Viggiano 1 collaboration
Annio Posar 1 collaboration
Helen Brittain 1 collaboration
Traficante Giovanna 1 collaboration
Gori Giulia 1 collaboration
Lina Quteineh 1 collaboration
Cecilia Mellado 1 collaboration
Alicia Coudert 1 collaboration
Milou G P Kennis 1 collaboration
Arianne Bouman 1 collaboration
Maian Roifman 1 collaboration
Vivian Vernimmen 1 collaboration
Margje Sinnema 1 collaboration
Rolph Pfundt 1 collaboration
Han G Brunner 1 collaboration
Lisenka E L M Vissers 1 collaboration
Tjitske Kleefstra 1 collaboration
Rosanna Weksberg 1 collaboration
Siddharth Banka 1 collaboration
Carla Marini 1 collaboration
Pierre-Louis Lanvin 1 collaboration
Thomas Goronflot 1 collaboration
Benjamin Durand 1 collaboration
David Geneviève 1 collaboration
Valentin Ruault 1 collaboration
Julien Thévenon 1 collaboration
Anne-Marie Guerrot 1 collaboration
Sandra Mercier 1 collaboration
Stéphane Bézieau 1 collaboration
Allan Bayat 1 collaboration
Marjolaine Willems 1 collaboration
Silvestre Cuinat 1 collaboration
Chloé Quélin 1 collaboration
Claire Effray 1 collaboration
Gwenaelle Le Bouar 1 collaboration
Philippe Loget 1 collaboration
Maia Proisy 1 collaboration
Fanny Sauvestre 1 collaboration
Mélie Sarreau 1 collaboration
Sophie Naudion 1 collaboration
Vincent Michaud 1 collaboration
Benoit Arveiler 1 collaboration
Aurélien Trimouille 1 collaboration
Pierre Macé 1 collaboration
Sabine Sigaudy 1 collaboration
Olga Glazunova 1 collaboration
Julia Torrents 1 collaboration
Laure Raymond 1 collaboration
Tania Attié-Bitach 1 collaboration
Mathilde Lefebvre 1 collaboration
Nicolas Bourgon 1 collaboration
Antonio Vitobello 1 collaboration
Anne-Claire Brehin 1 collaboration
Alexandre Perani 1 collaboration
Benjamin Dauriat 1 collaboration
Sylvie Bourthoumieu 1 collaboration
Valentine Marquet 1 collaboration
Marion Barnique 1 collaboration
Maryse Fiorenza-Gasq 1 collaboration
Danielle Tournadre 1 collaboration
Raïa Doumit 1 collaboration
Frédérique Nugues 1 collaboration
Tahsin Stefan Barakat 1 collaboration
Francisco Bustos 1 collaboration
Erika Launay 1 collaboration
Ash Zawerton 1 collaboration
Ashley Sigafoos 1 collaboration
Patrick R Blackburn 1 collaboration
Abdul Haseeb 1 collaboration
Kirsty McWalter 1 collaboration
Shoji Ichikawa 1 collaboration
Caroline Nava 1 collaboration
Andreas Hartmann 1 collaboration
Pauline Monin 1 collaboration
Sophie Dupuis-Girod 1 collaboration
Maria J Guillen Sacoto 1 collaboration
Rhonda E Schnur 1 collaboration
Zehua Zhu 1 collaboration
Sophie Nambot 1 collaboration
Tina Barbaro-Dieber 1 collaboration
Lucia Ortega 1 collaboration
Elizabeth J Bhoj 1 collaboration
Diane Masser-Frye 1 collaboration
Lynne M Bird 1 collaboration
Kristin Lindstrom 1 collaboration
Keri M Ramsey 1 collaboration
Vinodh Narayanan 1 collaboration
Emily Fassi 1 collaboration
Marcia Willing 1 collaboration
Trevor Cole 1 collaboration
Claire G Salter 1 collaboration
Rhoda Akilapa 1 collaboration
Anthony Vandersteen 1 collaboration
Natalie Canham 1 collaboration
Patrick Rump 1 collaboration
Emilia Bijlsma 1 collaboration
Mariëtte J V Hoffer 1 collaboration
Marcelo Vargas 1 collaboration
Antonina Wojcik 1 collaboration
Florian Cherik 1 collaboration
Jill A Rosenfeld 1 collaboration
Keren Machol 1 collaboration
Daryl A Scott 1 collaboration
Carlos A Bacino 1 collaboration
Xia Wang 1 collaboration
Gary D Clark 1 collaboration
Simon Zwolinski 1 collaboration
Rhys H Thomas 1 collaboration
Ela Akay 1 collaboration
Richard C Chang 1 collaboration
Rebekah Bressi 1 collaboration
Rossana Sanchez Russo 1 collaboration
Myriam Srour 1 collaboration
Laura Russell 1 collaboration
Anne-Marie E Goyette 1 collaboration
Lucie Dupuis 1 collaboration
Catherine Karimov 1 collaboration
Maries Joseph 1 collaboration
Alma Kuechler 1 collaboration
None None 1 collaboration
Eric W Klee 1 collaboration
Véronique Lefebvre 1 collaboration
Karl J Clark 1 collaboration
Christel Depienne 1 collaboration
Mathieu Kuchenbuch 1 collaboration
Elena Parrini 1 collaboration
Anne Rolland 1 collaboration
Raphael Levy 1 collaboration
Marlène Rio 1 collaboration
Susanna Negrin 1 collaboration
Alberto Danieli 1 collaboration
Vesna Brankovic 1 collaboration
Pascal Vrielynck 1 collaboration
Damien Lederer 1 collaboration
Hélène Maurey 1 collaboration
Claude Besmond 1 collaboration
Laurence Hubert 1 collaboration
Julien Durigneux 1 collaboration
Marieke F van Dooren 1 collaboration
Marie Claire Y de Wit 1 collaboration
Antje Knapke 1 collaboration
Pauline Le Tanno 1 collaboration
Clémence Jacquin 1 collaboration
Emilie Landais 1 collaboration
Céline Poirsier 1 collaboration
Ahmad Akhavi 1 collaboration
Nathalie Bednarek 1 collaboration
Caroline Bénech 1 collaboration
Adeline Bonnard 1 collaboration
Damien Bosquet 1 collaboration
Patrick Callier 1 collaboration
Christine Coubes 1 collaboration
Margaux Descharmes 1 collaboration
Jean-Michel Dupont 1 collaboration
Nicolas Gruchy 1 collaboration
Sarah Guterman 1 collaboration
Abdelkader Heddar 1 collaboration
Lucas Herissant 1 collaboration
Delphine Heron 1 collaboration
Pauline Jaeger 1 collaboration
Guillaume Jouret 1 collaboration
Paul Kuentz 1 collaboration
Cedric Le Caignec 1 collaboration
Nathalie Lopez 1 collaboration
Zoe Manssens 1 collaboration
Céline Pebrel-Richard 1 collaboration
Sylvia Redon 1 collaboration
Marta Spodenkiewicz 1 collaboration
Gaelle Vieville 1 collaboration
François Vialard 1 collaboration
Martine Doco-Fenzy 1 collaboration
Brigitte Fauroux 1 collaboration
Vincent Couloigner 1 collaboration
Alessandro Amaddeo 1 collaboration
Emmanuelle Prioux 1 collaboration
Jeanne Toulas 1 collaboration
Cécile Cieuta-Walti 1 collaboration
Hervé Walti 1 collaboration
Romain Luscan 1 collaboration
Ségolène Falquero 1 collaboration
Manon Clert 1 collaboration
Marie-Anne Caillaud 1 collaboration
Livio De Sanctis 1 collaboration
Sonia Khirani 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
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
Thomas Rolland 1 collaboration
Marie Ducloy 1 collaboration
Jonathan Lévy 1 collaboration
Julien Buratti 1 collaboration
Alexandre Mathieu 1 collaboration
Damien Haye 1 collaboration
Céline Dupont 1 collaboration
Sandrine Passemard 1 collaboration
Séverine Drunat 1 collaboration
Aurélia Jacquette 1 collaboration
Sandra Whalen 1 collaboration
Eva Pipiras 1 collaboration
Brigitte Benzacken 1 collaboration
Cédric Le Caignec 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
Nicole Philip 1 collaboration
Patrick Edery 1 collaboration
Véronique Satre 1 collaboration
Françoise Devillard 1 collaboration
Klaus Dieterich 1 collaboration
Marie-Laure Vuillaume 1 collaboration
Caroline Rooryck 1 collaboration
Didier Lacombe 1 collaboration
Jean Chiesa 1 collaboration
James Lespinasse 1 collaboration
Chloé Quelin 1 collaboration
Hubert Journel 1 collaboration
Annick Toutain 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
Franck Sturtz 1 collaboration
Cecile Cieuta-Walti 1 collaboration
Thabo M Yates 1 collaboration
Morgan Drucker 1 collaboration
Angela Barnicoat 1 collaboration
Karen Low 1 collaboration
Andrew E Fry 1 collaboration
Mary O'Driscoll 1 collaboration
Helen Cox 1 collaboration
Tuula Rinne 1 collaboration
Meriel McEntagart 1 collaboration
Vijaya Ramachandran 1 collaboration
Suzanne Drury 1 collaboration
Fleur Vansenne 1 collaboration
Deborah A Sival 1 collaboration
Johanna C Herkert 1 collaboration
Bert Callewaert 1 collaboration
Wen-Hann Tan 1 collaboration
Meena Balasubramanian 1 collaboration
Véronique Fressart 1 collaboration
Caroline Rambaud 1 collaboration
Paul Fornes 1 collaboration
Laurent Martin 1 collaboration
Sarah Grotto 1 collaboration
Hervé Gorka 1 collaboration
Gilles Millat 1 collaboration
Estelle Gandjbakhch 1 collaboration
Céline Bordet 1 collaboration
Pascale Richard 1 collaboration
Philippe Charron 1 collaboration