Eva Pipiras

Affiliations

NeuroDiderot, Université Paris Cité, Institut National de la Santé Et de la Recherche Médicale, Unité Mixte de Recherche 1141, Paris, France.
Assistance Publique-Hôpitaux de Paris, Hôpitaux Jean Verdier et Armand Trousseau, Université Sorbonne Paris Nord, Bobigny, France.

Publications (9)

An AluYa5 Insertion in the 3'UTR of COL4A1 and Cerebral Small Vessel Disease.

JAMA network open

Avec: Chaker Aloui , Lisa Neumann , Françoise Bergametti , Eric Sartori , Marc Herbreteau , Arnaud Maillard , Thibault Coste , Hélène Morel , Dominique Hervé , Hugues Chabriat , Serge Timsit , Irina Viakhireva , Yves Denoyer , Rémi Allibert , Florence Demurger , Cedric Gollion , Patrick Vermersch , Florence Marchelli , Corinne Blugeon , Sophie Lemoine , Claire Tourtier-Bellosta , Alexis Brouazin , Anne-Louise Leutenegger , Elisabeth Tournier-Lasserve

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

Clinical genetics

Avec: Lise Larcher , Julien Buratti , Bénédicte Héron-Longe , Brigitte Benzacken , Boris Keren , Andrée Delahaye-Duriez

Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome.

Journal of medical genetics

Avec: Chaker Aloui , Stéphanie Guey , Manoelle Kossorotoff , Sophie Guéden , Michaelle Corpechot , Pierre Bessou , Jean-Michel Pedespan , Marie Husson , Dominique Hervé , Florence Riant , Markus Kraemer , Julie Steffann , Olivier Quenez , Elisabeth Tournier-Lasserve

Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B.

European journal of medical genetics

Avec: Pascale Saugier-Veber , Florent Marguet , Myriam Vezain , Martine Bucourt , Pascaline Letard , Andrée Delahaye , Thierry Frébourg , Bruno Gonzalez , Annie Laquerrière

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 , Aurélia Jacquette , Sandra Whalen , 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

Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication.

Neurology. Genetics

Avec: Lou Grangeon , Kévin Cassinari , Stéphane Rousseau , Bernard Croisile , Maïté Formaglio , Olivier Moreaud , Jean Boutonnat , Nathalie Le Meur , Manuele Miné , Thibault Coste , Elisabeth Tournier-Lasserve , Anne Rovelet-Lecrux , Dominique Campion , David Wallon , Gael Nicolas

Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.

American journal of medical genetics. Part A

Avec: Juliette Quilichini , Sandrine Perol , Laurence Cuisset , Sarah Grotto , Corinne Fouveaut , Jean Claude Barbot , Camille Verebi , Pénélope Jordan , Delphine Héron , Denise Molina-Gomes , Michael Grynberg , Sophie Catteau-Jonard , Philippe Touraine , Sophie Christin-Maître , Geneviève Plu-Bureau , Laila El Khattabi , Thierry Bienvenu

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.

Journal of medical genetics

Avec: Laïla Allach El Khattabi , Solveig Heide , Jean-Hubert Caberg , Joris Andrieux , Martine Doco Fenzy , Caroline Vincent-Delorme , Patrick Callier , Sandra Chantot-Bastaraud , Alexandra Afenjar , Odile Boute-Benejean , Marie Pierre Cordier , Laurence Faivre , Christine Francannet , Marion Gerard , Alice Goldenberg , Alice Masurel-Paulet , Anne-Laure Mosca-Boidron , Nathalie Marle , Anne Moncla , Nathalie Le Meur , Michèle Mathieu-Dramard , Ghislaine Plessis , Gaetan Lesca , Massimiliano Rossi , Patrick Edery , Andrée Delahaye-Duriez , Loïc De Pontual , Anne Claude Tabet , Aziza Lebbar , Lesley Suiro , Christine Ioos , Abdelhafid Natiq , Siham Chafai Elalaoui , Chantal Missirian , Aline Receveur , Caroline François-Fiquet , Pascal Garnier , Catherine Yardin , Cécile Laroche , Philippe Vago , Damien Sanlaville , Jean Michel Dupont , Brigitte Benzacken ,

Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus.

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

Avec: Matias Wagner , Jonathan Lévy , Sabine Jung-Klawitter , Somayeh Bakhtiari , Fabiola Monteiro , Reza Maroofian , Tatjana Bierhals , Maja Hempel , Monique Elmaleh-Bergès , Joao P Kitajima , Chong A Kim , Julia G Salomao , David J Amor , Monica S Cooper , Laurence Perrin , Axel Neu , Mohammad Doosti , Ehsan G Karimiani , Mehran B Toosi , Henry Houlden , Sheng Chih Jin , Yue C Si , Lance H Rodan , Hanka Venselaar , Michael C Kruer , Fernando Kok , Georg F Hoffmann , Tim M Strom , Saskia B Wortmann , Anne-Claude Tabet , Thomas Opladen

Réseau de co-auteurs

Elisabeth Tournier-Lasserve 3 collaborations

Brigitte Benzacken 3 collaborations

Chaker Aloui 2 collaborations

Thibault Coste 2 collaborations

Dominique Hervé 2 collaborations

Julien Buratti 2 collaborations

Boris Keren 2 collaborations

Andrée Delahaye-Duriez 2 collaborations

Anne-Claude Tabet 2 collaborations

Jonathan Lévy 2 collaborations

Laurence Perrin 2 collaborations

Sandra Chantot-Bastaraud 2 collaborations

Alexandra Afenjar 2 collaborations

Delphine Héron 2 collaborations

Laila El Khattabi 2 collaborations

Philippe Vago 2 collaborations

Anne-Laure Mosca-Boidron 2 collaborations

Laurence Faivre 2 collaborations

Chantal Missirian 2 collaborations

Damien Sanlaville 2 collaborations

Patrick Edery 2 collaborations

Nathalie Le Meur 2 collaborations

Lisa Neumann 1 collaboration

Françoise Bergametti 1 collaboration

Eric Sartori 1 collaboration

Marc Herbreteau 1 collaboration

Arnaud Maillard 1 collaboration

Hélène Morel 1 collaboration

Hugues Chabriat 1 collaboration

Serge Timsit 1 collaboration

Irina Viakhireva 1 collaboration

Yves Denoyer 1 collaboration

Rémi Allibert 1 collaboration

Florence Demurger 1 collaboration

Cedric Gollion 1 collaboration

Patrick Vermersch 1 collaboration

Florence Marchelli 1 collaboration

Corinne Blugeon 1 collaboration

Sophie Lemoine 1 collaboration

Claire Tourtier-Bellosta 1 collaboration

Alexis Brouazin 1 collaboration

Anne-Louise Leutenegger 1 collaboration

Lise Larcher 1 collaboration

Bénédicte Héron-Longe 1 collaboration

Stéphanie Guey 1 collaboration

Manoelle Kossorotoff 1 collaboration

Sophie Guéden 1 collaboration

Michaelle Corpechot 1 collaboration

Pierre Bessou 1 collaboration

Jean-Michel Pedespan 1 collaboration

Marie Husson 1 collaboration

Florence Riant 1 collaboration

Markus Kraemer 1 collaboration

Julie Steffann 1 collaboration

Olivier Quenez 1 collaboration

Pascale Saugier-Veber 1 collaboration

Florent Marguet 1 collaboration

Myriam Vezain 1 collaboration

Martine Bucourt 1 collaboration

Pascaline Letard 1 collaboration

Andrée Delahaye 1 collaboration

Thierry Frébourg 1 collaboration

Bruno Gonzalez 1 collaboration

Annie Laquerrière 1 collaboration

Thomas Rolland 1 collaboration

Marie Ducloy 1 collaboration

Alexandre Mathieu 1 collaboration

Damien Haye 1 collaboration

Céline Dupont 1 collaboration

Sandrine Passemard 1 collaboration

Yline Capri 1 collaboration

Alain Verloes 1 collaboration

Séverine Drunat 1 collaboration

Cyril Mignot 1 collaboration

Isabelle Marey 1 collaboration

Aurélia Jacquette 1 collaboration

Sandra Whalen 1 collaboration

Cédric Le Caignec 1 collaboration

Claire Beneteau 1 collaboration

Olivier Pichon 1 collaboration

Bertrand Isidor 1 collaboration

Albert David 1 collaboration

Stephan Kemeny 1 collaboration

Laetitia Gouas 1 collaboration

Nicole Philip 1 collaboration

Véronique Satre 1 collaboration

Charles Coutton 1 collaboration

Françoise Devillard 1 collaboration

Klaus Dieterich 1 collaboration

Marie-Laure Vuillaume 1 collaboration

Caroline Rooryck 1 collaboration

Didier Lacombe 1 collaboration

Lucile Pinson 1 collaboration

Vincent Gatinois 1 collaboration

Jacques Puechberty 1 collaboration

Jean Chiesa 1 collaboration

James Lespinasse 1 collaboration

Christèle Dubourg 1 collaboration

Chloé Quelin 1 collaboration

Mélanie Fradin 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

Lou Grangeon 1 collaboration

Kévin Cassinari 1 collaboration

Stéphane Rousseau 1 collaboration

Bernard Croisile 1 collaboration

Maïté Formaglio 1 collaboration

Olivier Moreaud 1 collaboration

Jean Boutonnat 1 collaboration

Manuele Miné 1 collaboration

Anne Rovelet-Lecrux 1 collaboration

Dominique Campion 1 collaboration

David Wallon 1 collaboration

Gael Nicolas 1 collaboration

Juliette Quilichini 1 collaboration

Sandrine Perol 1 collaboration

Laurence Cuisset 1 collaboration

Sarah Grotto 1 collaboration

Corinne Fouveaut 1 collaboration

Jean Claude Barbot 1 collaboration

Camille Verebi 1 collaboration

Pénélope Jordan 1 collaboration

Denise Molina-Gomes 1 collaboration

Michael Grynberg 1 collaboration

Sophie Catteau-Jonard 1 collaboration

Philippe Touraine 1 collaboration

Sophie Christin-Maître 1 collaboration

Geneviève Plu-Bureau 1 collaboration

Thierry Bienvenu 1 collaboration

Laïla Allach El Khattabi 1 collaboration

Solveig Heide 1 collaboration

Jean-Hubert Caberg 1 collaboration

Joris Andrieux 1 collaboration

Martine Doco Fenzy 1 collaboration

Caroline Vincent-Delorme 1 collaboration

Patrick Callier 1 collaboration

Odile Boute-Benejean 1 collaboration

Marie Pierre Cordier 1 collaboration

Christine Francannet 1 collaboration

Marion Gerard 1 collaboration

Alice Goldenberg 1 collaboration

Alice Masurel-Paulet 1 collaboration

Nathalie Marle 1 collaboration

Anne Moncla 1 collaboration

Michèle Mathieu-Dramard 1 collaboration

Ghislaine Plessis 1 collaboration

Gaetan Lesca 1 collaboration

Massimiliano Rossi 1 collaboration

Loïc De Pontual 1 collaboration

Anne Claude Tabet 1 collaboration

Aziza Lebbar 1 collaboration

Lesley Suiro 1 collaboration

Christine Ioos 1 collaboration

Abdelhafid Natiq 1 collaboration

Siham Chafai Elalaoui 1 collaboration

Aline Receveur 1 collaboration

Caroline François-Fiquet 1 collaboration

Pascal Garnier 1 collaboration

Catherine Yardin 1 collaboration

Cécile Laroche 1 collaboration

Jean Michel Dupont 1 collaboration

Matias Wagner 1 collaboration

Sabine Jung-Klawitter 1 collaboration

Somayeh Bakhtiari 1 collaboration

Fabiola Monteiro 1 collaboration

Reza Maroofian 1 collaboration

Tatjana Bierhals 1 collaboration

Maja Hempel 1 collaboration

Monique Elmaleh-Bergès 1 collaboration

Joao P Kitajima 1 collaboration

Chong A Kim 1 collaboration

Julia G Salomao 1 collaboration

David J Amor 1 collaboration

Monica S Cooper 1 collaboration

Axel Neu 1 collaboration

Mohammad Doosti 1 collaboration

Ehsan G Karimiani 1 collaboration

Mehran B Toosi 1 collaboration

Henry Houlden 1 collaboration

Sheng Chih Jin 1 collaboration

Yue C Si 1 collaboration

Lance H Rodan 1 collaboration

Hanka Venselaar 1 collaboration

Michael C Kruer 1 collaboration

Fernando Kok 1 collaboration

Georg F Hoffmann 1 collaboration

Tim M Strom 1 collaboration

Saskia B Wortmann 1 collaboration

Thomas Opladen 1 collaboration