Eléonore Eymard-Pierre

Affiliations

2Department of Clinical Genetics and Medical Cytogenetics, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France.

Publications (5)

Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.

Brain : a journal of neurology

Avec: Antonella Sferra , Paola Fortugno , Marialetizia Motta , Chiara Aiello , Stefania Petrini , Andrea Ciolfi , Francesca Cipressa , Isabella Moroni , Vincenzo Leuzzi , Luisa Pieroni , Federica Marini , Odile Boespflug Tanguy , Eleonore Eymard-Pierre , Federica Rachele Danti , Claudia Compagnucci , Giovanna Zambruno , Alfredo Brusco , Filippo M Santorelli , Luisa Chiapparini , Paola Francalanci , Anna Livia Loizzo , Marco Tartaglia , Gianluca Cestra , Enrico Bertini

Feasibility of Optical Genome Mapping from Placental and Umbilical Cord Sampled after Spontaneous or Therapeutic Pregnancy Termination.

Diagnostics (Basel, Switzerland)

Avec: Carole Goumy , Zangbéwendé Guy Ouedraogo , Elodie Bellemonte , Eleonore Eymard-Pierre , Gwendoline Soler , Isabelle Perthus , Céline Pebrel-Richard , Laetitia Gouas , Gaëlle Salaun , Lauren Véronèse , Hélène Laurichesse , Claude Darcha , Andrei Tchirkov

Deleterious mutations in

NPJ genomic medicine

Avec: Catherine Sarret , Zahra Ashkavand , Evan Paules , Imen Dorboz , Peter Pediaditakis , Susan Sumner , Eléonore Eymard-Pierre , Christine Francannet , Natalia I Krupenko , Odile Boespflug-Tanguy , Sergey A Krupenko

Optical genome mapping for prenatal diagnosis: A prospective study.

Clinica chimica acta; international journal of clinical chemistry

Avec: Carole Goumy , Zangbéwendé Guy Ouedraogo , Gwendoline Soler , Eleonore Eymard-Pierre , Hélène Laurichesse , Amélie Delabaere , Denis Gallot , Pamela Bouchet , Isabelle Perthus , Céline Pebrel-Richard , Laetitia Gouas , Gaëlle Salaun , Jérôme Salse , Lauren Véronèse , Andrei Tchirkov

Analysis of the cost effectiveness of different strategies for the antenatal diagnosis of chromosomal aberrations in cases of ultrasound-identified fetal abnormalities.

Annales de biologie clinique

Avec: Charline Mourgues , Eléonore Eymard-Pierre , Hélène Laurichesse-Delmas , Laurent Gerbaud , Laëtitia Gouas , Céline Pébrel-Richard , Philippe Vago , Anne Debost-Legrand , Carole Goumy

Réseau de co-auteurs

Eleonore Eymard-Pierre 3 collaborations

Carole Goumy 3 collaborations

Zangbéwendé Guy Ouedraogo 2 collaborations

Gwendoline Soler 2 collaborations

Isabelle Perthus 2 collaborations

Céline Pebrel-Richard 2 collaborations

Laetitia Gouas 2 collaborations

Gaëlle Salaun 2 collaborations

Lauren Véronèse 2 collaborations

Hélène Laurichesse 2 collaborations

Andrei Tchirkov 2 collaborations

Antonella Sferra 1 collaboration

Paola Fortugno 1 collaboration

Marialetizia Motta 1 collaboration

Chiara Aiello 1 collaboration

Stefania Petrini 1 collaboration

Andrea Ciolfi 1 collaboration

Francesca Cipressa 1 collaboration

Isabella Moroni 1 collaboration

Vincenzo Leuzzi 1 collaboration

Luisa Pieroni 1 collaboration

Federica Marini 1 collaboration

Odile Boespflug Tanguy 1 collaboration

Federica Rachele Danti 1 collaboration

Claudia Compagnucci 1 collaboration

Giovanna Zambruno 1 collaboration

Alfredo Brusco 1 collaboration

Filippo M Santorelli 1 collaboration

Luisa Chiapparini 1 collaboration

Paola Francalanci 1 collaboration

Anna Livia Loizzo 1 collaboration

Marco Tartaglia 1 collaboration

Gianluca Cestra 1 collaboration

Enrico Bertini 1 collaboration

Elodie Bellemonte 1 collaboration

Claude Darcha 1 collaboration

Catherine Sarret 1 collaboration

Zahra Ashkavand 1 collaboration

Evan Paules 1 collaboration

Imen Dorboz 1 collaboration

Peter Pediaditakis 1 collaboration

Susan Sumner 1 collaboration

Christine Francannet 1 collaboration

Natalia I Krupenko 1 collaboration

Odile Boespflug-Tanguy 1 collaboration

Sergey A Krupenko 1 collaboration

Amélie Delabaere 1 collaboration

Denis Gallot 1 collaboration

Pamela Bouchet 1 collaboration

Jérôme Salse 1 collaboration

Charline Mourgues 1 collaboration

Hélène Laurichesse-Delmas 1 collaboration

Laurent Gerbaud 1 collaboration

Laëtitia Gouas 1 collaboration

Céline Pébrel-Richard 1 collaboration

Philippe Vago 1 collaboration

Anne Debost-Legrand 1 collaboration