Julia Metreau

Affiliations

APHP, Service de neurologie pédiatrique, Hôpital Universitaire Bicetre, Le Kremlin-Bicetre, France.

Publications (5)

Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia.

European journal of human genetics : EJHG

Avec: Diane Doummar , Christel Dentel , Romane Lyautey , Julia Metreau , Boris Keren , Nathalie Drouot , Ludivine Malherbe , Viviane Bouilleret , Jérémie Courraud , Maria Paola Valenti-Hirsch , Lorella Minotti , Blandine Dozieres-Puyravel , Séverine Bär , Julia Scholly , Elise Schaefer , Caroline Nava , Thomas Wirth , Hala Nasser , Marie de Salins , Anne de Saint Martin , Marie Thérèse Abi Warde , Philippe Kahane , Edouard Hirsch , Mathieu Anheim , Sylvie Friant , Jamel Chelly , Cyril Mignot , Gabrielle Rudolf

The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome.

Clinical genetics

Avec: Bernt Popp , Thierry Bienvenu , Irina Giurgea , Julia Metreau , Cornelia Kraus , André Reis , Jan Fischer , María Palomares Bralo , Jair Tenorio-Castaño , Pablo Lapunzina , Berta Almoguera , Fermina Lopez-Grondona , Heinrich Sticht , Christiane Zweier

WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk.

Epilepsia

Avec: Karen L Oliver , Marina Trivisano , Simone A Mandelstam , Angela De Dominicis , David I Francis , Timothy E Green , Alison M Muir , Apoorva Chowdhary , Christoph Hertzberg , Klaus Goldhahn , Julia Metreau , Christine Prager , Jason Pinner , Michael Cardamone , Kenneth A Myers , Richard J Leventer , Gaetan Lesca , Melanie Bahlo , Michael S Hildebrand , Heather C Mefford , Angela M Kaindl , Nicola Specchio , Ingrid E Scheffer

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.

European journal of human genetics : EJHG

Avec: Sophie Nambot , Laurence Faivre , Ghayda Mirzaa , Julien Thevenon , Ange-Line Bruel , Anne-Laure Mosca-Boidron , Alice Masurel-Paulet , Alice Goldenberg , Nathalie Le Meur , Aude Charollais , Cyril Mignot , Florence Petit , Massimiliano Rossi , Julia Metreau , Valérie Layet , Daniel Amram , Odile Boute-Bénéjean , Elizabeth Bhoj , Margot A Cousin , Teresa M Kruisselbrink , Brendan C Lanpher , Eric W Klee , Elise Fiala , Dorothy K Grange , Wendy S Meschino , Susan M Hiatt , Gregory M Cooper , Hilde Olivié , Wendy E Smith , Meghan Dumas , Anna Lehman , Auteur inconnu , Cara Inglese , Mathilde Nizon , Renzo Guerrini , Annalisa Vetro , Eitan S Kaplan , Dolores Miramar , Julien Van Gils , Patricia Fergelot , Olaf Bodamer , Johanna C Herkert , Sander Pajusalu , Katrin Õunap , James J Filiano , Thomas Smol , Amélie Piton , Bénédicte Gérard , Sandra Chantot-Bastaraud , Thierry Bienvenu , Dong Li , Jane Juusola , Koen Devriendt , Frederic Bilan , Charlotte Poé , Martin Chevarin , Thibaud Jouan , Emilie Tisserant , Jean-Baptiste Rivière , Frédéric Tran Mau-Them , Christophe Philippe , Yannis Duffourd , William B Dobyns , Robert Hevner , Christel Thauvin-Robinet

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

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Jérémie Courraud , Eric Chater-Diehl , Benjamin Durand , Marie Vincent , Maria Del Mar Muniz Moreno , Imene Boujelbene , Nathalie Drouot , Loréline Genschik , Elise Schaefer , Mathilde Nizon , Bénédicte Gerard , Marc Abramowicz , Benjamin Cogné , Lucas Bronicki , Lydie Burglen , Magalie Barth , Perrine Charles , Estelle Colin , Christine Coubes , Albert David , Bruno Delobel , Florence Demurger , Sandrine Passemard , Anne-Sophie Denommé , Laurence Faivre , Claire Feger , Mélanie Fradin , Christine Francannet , David Genevieve , Alice Goldenberg , Anne-Marie Guerrot , Bertrand Isidor , Katrine M Johannesen , Boris Keren , Maria Kibæk , Paul Kuentz , Michèle Mathieu-Dramard , Bénédicte Demeer , Julia Metreau , Rikke Steensbjerre Møller , Sébastien Moutton , Laurent Pasquier , Kristina Pilekær Sørensen , Laurence Perrin , Mathilde Renaud , Pascale Saugier , Marlène Rio , Joane Svane , Julien Thevenon , Frédéric Tran Mau Them , Cathrine Elisabeth Tronhjem , Antonio Vitobello , Valérie Layet , Stéphane Auvin , Khaoula Khachnaoui , Marie-Christine Birling , Séverine Drunat , Allan Bayat , Christèle Dubourg , Salima El Chehadeh , Christina Fagerberg , Cyril Mignot , Michel Guipponi , Thierry Bienvenu , Yann Herault , Julie Thompson , Marjolaine Willems , Jean-Louis Mandel , Rosanna Weksberg , Amélie Piton

Réseau de co-auteurs

Cyril Mignot 3 collaborations

Thierry Bienvenu 3 collaborations

Boris Keren 2 collaborations

Nathalie Drouot 2 collaborations

Jérémie Courraud 2 collaborations

Elise Schaefer 2 collaborations

Laurence Faivre 2 collaborations

Julien Thevenon 2 collaborations

Alice Goldenberg 2 collaborations

Valérie Layet 2 collaborations

Mathilde Nizon 2 collaborations

Amélie Piton 2 collaborations

Diane Doummar 1 collaboration

Christel Dentel 1 collaboration

Romane Lyautey 1 collaboration

Ludivine Malherbe 1 collaboration

Viviane Bouilleret 1 collaboration

Maria Paola Valenti-Hirsch 1 collaboration

Lorella Minotti 1 collaboration

Blandine Dozieres-Puyravel 1 collaboration

Séverine Bär 1 collaboration

Julia Scholly 1 collaboration

Caroline Nava 1 collaboration

Thomas Wirth 1 collaboration

Hala Nasser 1 collaboration

Marie de Salins 1 collaboration

Anne de Saint Martin 1 collaboration

Marie Thérèse Abi Warde 1 collaboration

Philippe Kahane 1 collaboration

Edouard Hirsch 1 collaboration

Mathieu Anheim 1 collaboration

Sylvie Friant 1 collaboration

Jamel Chelly 1 collaboration

Gabrielle Rudolf 1 collaboration

Bernt Popp 1 collaboration

Irina Giurgea 1 collaboration

Cornelia Kraus 1 collaboration

André Reis 1 collaboration

Jan Fischer 1 collaboration

María Palomares Bralo 1 collaboration

Jair Tenorio-Castaño 1 collaboration

Pablo Lapunzina 1 collaboration

Berta Almoguera 1 collaboration

Fermina Lopez-Grondona 1 collaboration

Heinrich Sticht 1 collaboration

Christiane Zweier 1 collaboration

Karen L Oliver 1 collaboration

Marina Trivisano 1 collaboration

Simone A Mandelstam 1 collaboration

Angela De Dominicis 1 collaboration

David I Francis 1 collaboration

Timothy E Green 1 collaboration

Alison M Muir 1 collaboration

Apoorva Chowdhary 1 collaboration

Christoph Hertzberg 1 collaboration

Klaus Goldhahn 1 collaboration

Christine Prager 1 collaboration

Jason Pinner 1 collaboration

Michael Cardamone 1 collaboration

Kenneth A Myers 1 collaboration

Richard J Leventer 1 collaboration

Gaetan Lesca 1 collaboration

Melanie Bahlo 1 collaboration

Michael S Hildebrand 1 collaboration

Heather C Mefford 1 collaboration

Angela M Kaindl 1 collaboration

Nicola Specchio 1 collaboration

Ingrid E Scheffer 1 collaboration

Sophie Nambot 1 collaboration

Ghayda Mirzaa 1 collaboration

Ange-Line Bruel 1 collaboration

Anne-Laure Mosca-Boidron 1 collaboration

Alice Masurel-Paulet 1 collaboration

Nathalie Le Meur 1 collaboration

Aude Charollais 1 collaboration

Florence Petit 1 collaboration

Massimiliano Rossi 1 collaboration

Daniel Amram 1 collaboration

Odile Boute-Bénéjean 1 collaboration

Elizabeth Bhoj 1 collaboration

Margot A Cousin 1 collaboration

Teresa M Kruisselbrink 1 collaboration

Brendan C Lanpher 1 collaboration

Eric W Klee 1 collaboration

Elise Fiala 1 collaboration

Dorothy K Grange 1 collaboration

Wendy S Meschino 1 collaboration

Susan M Hiatt 1 collaboration

Gregory M Cooper 1 collaboration

Hilde Olivié 1 collaboration

Wendy E Smith 1 collaboration

Meghan Dumas 1 collaboration

Anna Lehman 1 collaboration

None None 1 collaboration

Cara Inglese 1 collaboration

Renzo Guerrini 1 collaboration

Annalisa Vetro 1 collaboration

Eitan S Kaplan 1 collaboration

Dolores Miramar 1 collaboration

Julien Van Gils 1 collaboration

Patricia Fergelot 1 collaboration

Olaf Bodamer 1 collaboration

Johanna C Herkert 1 collaboration

Sander Pajusalu 1 collaboration

Katrin Õunap 1 collaboration

James J Filiano 1 collaboration

Thomas Smol 1 collaboration

Bénédicte Gérard 1 collaboration

Sandra Chantot-Bastaraud 1 collaboration

Dong Li 1 collaboration

Jane Juusola 1 collaboration

Koen Devriendt 1 collaboration

Frederic Bilan 1 collaboration

Charlotte Poé 1 collaboration

Martin Chevarin 1 collaboration

Thibaud Jouan 1 collaboration

Emilie Tisserant 1 collaboration

Jean-Baptiste Rivière 1 collaboration

Frédéric Tran Mau-Them 1 collaboration

Christophe Philippe 1 collaboration

Yannis Duffourd 1 collaboration

William B Dobyns 1 collaboration

Robert Hevner 1 collaboration

Christel Thauvin-Robinet 1 collaboration

Eric Chater-Diehl 1 collaboration

Benjamin Durand 1 collaboration

Marie Vincent 1 collaboration

Maria Del Mar Muniz Moreno 1 collaboration

Imene Boujelbene 1 collaboration

Loréline Genschik 1 collaboration

Bénédicte Gerard 1 collaboration

Marc Abramowicz 1 collaboration

Benjamin Cogné 1 collaboration

Lucas Bronicki 1 collaboration

Lydie Burglen 1 collaboration

Magalie Barth 1 collaboration

Perrine Charles 1 collaboration

Estelle Colin 1 collaboration

Christine Coubes 1 collaboration

Albert David 1 collaboration

Bruno Delobel 1 collaboration

Florence Demurger 1 collaboration

Sandrine Passemard 1 collaboration

Anne-Sophie Denommé 1 collaboration

Claire Feger 1 collaboration

Mélanie Fradin 1 collaboration

Christine Francannet 1 collaboration

David Genevieve 1 collaboration

Anne-Marie Guerrot 1 collaboration

Bertrand Isidor 1 collaboration

Katrine M Johannesen 1 collaboration

Maria Kibæk 1 collaboration

Paul Kuentz 1 collaboration

Michèle Mathieu-Dramard 1 collaboration

Bénédicte Demeer 1 collaboration

Rikke Steensbjerre Møller 1 collaboration

Sébastien Moutton 1 collaboration

Laurent Pasquier 1 collaboration

Kristina Pilekær Sørensen 1 collaboration

Laurence Perrin 1 collaboration

Mathilde Renaud 1 collaboration

Pascale Saugier 1 collaboration

Marlène Rio 1 collaboration

Joane Svane 1 collaboration

Frédéric Tran Mau Them 1 collaboration

Cathrine Elisabeth Tronhjem 1 collaboration

Antonio Vitobello 1 collaboration

Stéphane Auvin 1 collaboration

Khaoula Khachnaoui 1 collaboration

Marie-Christine Birling 1 collaboration

Séverine Drunat 1 collaboration

Allan Bayat 1 collaboration

Christèle Dubourg 1 collaboration

Salima El Chehadeh 1 collaboration

Christina Fagerberg 1 collaboration

Michel Guipponi 1 collaboration

Yann Herault 1 collaboration

Julie Thompson 1 collaboration

Marjolaine Willems 1 collaboration

Jean-Louis Mandel 1 collaboration

Rosanna Weksberg 1 collaboration