Isabelle Perthus

Affiliations
  • Auvergne registry of congenital anomalies (CEMC-Auvergne), Department of clinical genetics, Centre de Référence des Maladies Rares, University Hospital of Clermont-Ferrand, Clermont-Ferrand, France.

Publications (20)

Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study.

Pediatric research
Avec: Romy van de Putte , Iris A L M van Rooij , Carlo L M Marcelis , Michel Guo , Han G Brunner , Marie-Claude Addor , Clara Cavero-Carbonell , Carlos M Dias , Elizabeth S Draper , Larraitz Etxebarriarteun , Miriam Gatt , Martin Haeusler , Babak Khoshnood , Kari Klungsoyr , Jenny J Kurinczuk , Monica Lanzoni , Anna Latos-Bielenska , Karen Luyt , Mary T O'Mahony , Nicola Miller , Carmel Mullaney , Vera Nelen , Amanda J Neville , Isabelle Perthus , Anna Pierini , Hanitra Randrianaivo , Judith Rankin , Anke Rissmann , Florence Rouget , Bruno Schaub , David Tucker , Diana Wellesley , Awi Wiesel , Natalya Zymak-Zakutnia , Maria Loane , Ingeborg Barisic , Hermien E K de Walle , Nel Roeleveld , Jorieke E H Bergman

Association between hereditary predisposition to common cancers and congenital multimalformations.

Congenital anomalies
Avec: Fabrice Kwiatkowski , Isabelle Perthus , Nancy Uhrhammer , Christine Francannet , Marie Arbre , Yannick Bidet , Yves-Jean Bignon

Prevalence of vascular disruption anomalies and association with young maternal age: A EUROCAT study to compare the United Kingdom with other European countries.

Birth defects research
Avec: Joan K Morris , Diana Wellesley , Elizabeth Limb , Jorieke E H Bergman , Agnieszka Kinsner-Ovaskainen , Marie Claude Addor , Jennifer M Broughan , Clara Cavero-Carbonell , Carlos M Dias , Luis-Javier Echevarría-González-de-Garibay , Miriam Gatt , Martin Haeusler , Ingeborg Barisic , Kari Klungsoyr , Nathalie Lelong , Anna Materna-Kiryluk , Amanda Neville , Vera Nelen , Mary T O'Mahony , Isabelle Perthus , Anna Pierini , Judith Rankin , Anke Rissmann , Florence Rouget , Geraldine Sayers , Sarah Stevens , David Tucker , Ester Garne

Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination.

Clinical genetics
Avec: Julie Masson , Céline Pebrel-Richard , Matthieu Egloff , Mathilde Frétigny , Marion Beaumont , Kevin Uguen , Pierre-Antoine Rollat-Farnier , Flavie Diguet , Isabelle Perthus , Gwenaël Le Gudayer , Damien Haye , Marie-Noëlle Bonnet Dupeyron , Audrey Putoux , Fabienne Raskin-Champion , Marianne Till , Nicolas Chatron , Bérénice Doray , Claire Bardel , Christine Vinciguerra , Damien Sanlaville , Caroline Schluth-Bolard

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

Cost and outcomes of the ultrasound screening program for birth defects over time: a population-based study in France.

BMJ open
Avec: Clément Ferrier , Babak Khoshnood , Ferdinand Dhombres , Hanitra Randrianaivo , Isabelle Perthus , Jean-Marie Jouannic , Isabelle Durand-Zaleski

Maternal risk factors for the VACTERL association: A EUROCAT case-control study.

Birth defects research
Avec: Romy van de Putte , Iris A L M van Rooij , Cynthia P Haanappel , Carlo L M Marcelis , Han G Brunner , Marie-Claude Addor , Clara Cavero-Carbonell , Carlos M Dias , Elizabeth S Draper , Larraitz Etxebarriarteun , Miriam Gatt , Babak Khoshnood , Agnieszka Kinsner-Ovaskainen , Kari Klungsoyr , Jenny J Kurinczuk , Anna Latos-Bielenska , Karen Luyt , Mary T O'Mahony , Nicola Miller , Carmel Mullaney , Vera Nelen , Amanda J Neville , Isabelle Perthus , Anna Pierini , Hanitra Randrianaivo , Judith Rankin , Anke Rissmann , Florence Rouget , Bruno Schaub , David Tucker , Diana Wellesley , Awi Wiesel , Natalya Zymak-Zakutnia , Maria Loane , Ingeborg Barisic , Hermien E K de Walle , Jorieke E H Bergman , Nel Roeleveld

Epidemiology of aplasia cutis congenita: A population-based study in Europe.

Journal of the European Academy of Dermatology and Venereology : JEADV
Avec: Alessio Coi , Ingeborg Barisic , Ester Garne , Anna Pierini , Marie-Claude Addor , Amaia Aizpurua Atxega , Elisa Ballardini , Paula Braz , Jennifer M Broughan , Clara Cavero-Carbonell , Hermien E K de Walle , Elizabeth S Draper , Miriam Gatt , Martin Häusler , Agnieszka Kinsner-Ovaskainen , Jennifer J Kurinczuk , Nathalie Lelong , Karen Luyt , Lorena Mezzasalma , Carmel Mullaney , Vera Nelen , Ljubica Odak , Mary T O'Mahony , Isabelle Perthus , Hanitra Randrianaivo , Judith Rankin , Anke Rissmann , Florence Rouget , Bruno Schaub , David Tucker , Diana Wellesley , Katarzyna Wiśniewska , Lyubov Yevtushok , Michele Santoro

Prevalence of congenital heart defects in Europe, 2008-2015: A registry-based study.

Birth defects research
Avec: Chrysovalanto Mamasoula , Marie-Claude Addor , Clara Cavero Carbonell , Carlos M Dias , Luis-Javier Echevarría-González-de-Garibay , Miriam Gatt , Babak Khoshnood , Kari Klungsoyr , Kay Randall , Sylvia Stoianova , Martin Haeusler , Vera Nelen , Amanda J Neville , Isabelle Perthus , Anna Pierini , Bénédicte Bertaut-Nativel , Anke Rissmann , Florence Rouget , Bruno Schaub , David Tucker , Diana Wellesley , Natalya Zymak-Zakutnia , Ingeborg Barisic , Hermien E K de Walle , Monica Lanzoni , Carmel Mullaney , Lindsay Pennington , Judith Rankin

Epidemiology of achondroplasia: A population-based study in Europe.

American journal of medical genetics. Part A
Avec: Alessio Coi , Michele Santoro , Ester Garne , Anna Pierini , Marie-Claude Addor , Jean-Luc Alessandri , Jorieke E H Bergman , Fabrizio Bianchi , Ljubica Boban , Paula Braz , Clara Cavero-Carbonell , Miriam Gatt , Martin Haeusler , Kari Klungsøyr , Jennifer J Kurinczuk , Monica Lanzoni , Nathalie Lelong , Karen Luyt , Olatz Mokoroa , Carmel Mullaney , Vera Nelen , Amanda J Neville , Mary T O'Mahony , Isabelle Perthus , Judith Rankin , Anke Rissmann , Florence Rouget , Bruno Schaub , David Tucker , Diana Wellesley , Katarzyna Wisniewska , Nataliia Zymak-Zakutnia , Ingeborg Barišić

Risks of 23 specific malformations associated with prenatal exposure to 10 antiepileptic drugs.

Neurology
Avec: Pierre-Olivier Blotière , Fanny Raguideau , Alain Weill , Elisabeth Elefant , Isabelle Perthus , Véronique Goulet , Florence Rouget , Mahmoud Zureik , Joël Coste , Rosemary Dray-Spira

Surveillance of multiple congenital anomalies; searching for new associations.

European journal of human genetics : EJHG
Avec: Joan K Morris , Jorieke E H Bergman , Ingeborg Barisic , Diana Wellesley , David Tucker , Elizabeth Limb , Marie-Claude Addor , Clara Cavero-Carbonell , Carlos Matias Dias , Elisabeth S Draper , Luis Javier Echevarría-González-de-Garibay , Miriam Gatt , Kari Klungsøyr , Nathalie Lelong , Karen Luyt , Anna Materna-Kiryluk , Vera Nelen , Amanda Neville , Isabelle Perthus , Anna Pierini , Hanitra Randrianaivo-Ranjatoelina , Judith Rankin , Anke Rissmann , Florence Rouget , Geraldine Sayers , Wladimir Wertelecki , Agnieszka Kinsner-Ovaskainen , Ester Garne

Maternal age and the prevalence of congenital heart defects in Europe, 1995-2015: A register-based study.

Birth defects research
Avec: Chrysovalanto Mamasoula , Theophile Bigirumurame , Thomas Chadwick , Marie-Claude Addor , Clara Cavero-Carbonell , Carlos M Dias , Luis-Javier Echevarría-González-de-Garibay , Miriam Gatt , Babak Khoshnood , Kari Klungsoyr , Kay Randall , Sylvia Stoianova , Martin Haeusler , Vera Nelen , Amanda J Neville , Isabelle Perthus , Anna Pierini , Bénédicte Bertaut-Nativel , Anke Rissmann , Florence Rouget , Bruno Schaub , David Tucker , Diana Wellesley , Natalya Zymak-Zakutnia , Ingeborg Barisic , Hermien E K de Walle , Monica Lanzoni , Gerardine Sayers , Carmel Mullaney , Lindsay Pennington , Judith Rankin

A multidisciplinary and structured investigation of three suspected clusters of transverse upper limb reduction defects in France.

European journal of epidemiology
Avec: Julie Boudet-Berquier , Christophe Demattei , Laurence Guldner , Anne Gallay , Sylvie Manouvrier , Jérémie Botton , Claire Philippat , Fleur Delva , Juliette Bloch , Caroline Semaille , Sylvie Odent , Isabelle Perthus , Hanitra Randrianaivo , Sylvie Babajko , Tiphaine Barjat , Claire Beneteau , Naima Brennetot , Ester Garne , Georges Haddad , Mounia Hocine , Isabelle Lacroix , Klervi Leuraud , Michel Mench , Joan Morris , Sophie Patrier , Arnaud Sartelet , Alain Verloes , Christophe Bonaldi , Mélina Le Barbier , Bertrand Gagnière , Philippe Pépin , Ronan Ollivier , Monique Bitoun , Lisa King , Andrea Guajardo-Villar , Eugenia Gomes , Jean-Claude Desenclos , Nolwenn Regnault , Alexandra Benachi

Epidemiology of Dandy-Walker Malformation in Europe: A EUROCAT Population-Based Registry Study.

Neuroepidemiology
Avec: Michele Santoro , Alessio Coi , Ingeborg Barišić , Ester Garne , Marie-Claude Addor , Jorieke E H Bergman , Fabrizio Bianchi , Ljubica Boban , Paula Braz , Clara Cavero-Carbonell , Miriam Gatt , Martin Haeusler , Agnieszka Kinsner-Ovaskainen , Kari Klungsøyr , Jennifer J Kurinczuk , Nathalie Lelong , Karen Luyt , Anna Materna-Kiryluk , Olatz Mokoroa , Carmel Mullaney , Vera Nelen , Amanda Julie Neville , Mary T O'Mahony , Isabelle Perthus , Hanitra Randrianaivo , Judith Rankin , Anke Rissmann , Florence Rouget , Bruno Schaub , David Tucker , Diana Wellesley , Lyubov Yevtushok , Anna Pierini

Trends in resource use and effectiveness of ultrasound detection of fetal structural anomalies in France: a multiple registry-based study.

BMJ open
Avec: Clément Ferrier , Ferdinand Dhombres , Babak Khoshnood , Hanitra Randrianaivo , Isabelle Perthus , Lucie Guilbaut , Isabelle Durand-Zaleski , Jean-Marie Jouannic

Epidemiology of Pierre-Robin sequence in Europe: A population-based EUROCAT study.

Paediatric and perinatal epidemiology
Avec: Michele Santoro , Alessio Coi , Ingeborg Barišić , Anna Pierini , Marie-Claude Addor , Silvia Baldacci , Elisa Ballardini , Ljubica Boban , Paula Braz , Clara Cavero-Carbonell , Hermien E K de Walle , Elizabeth S Draper , Miriam Gatt , Martin Haeusler , Kari Klungsøyr , Jennifer J Kurinczuk , Anna Materna-Kiryluk , Monica Lanzoni , Nathalie Lelong , Karen Luyt , Olatz Mokoroa , Carmel Mullaney , Vera Nelen , Mary T O'Mahony , Isabelle Perthus , Hanitra Randrianaivo , Judith Rankin , Anke Rissmann , Florence Rouget , Bruno Schaub , David Tucker , Diana Wellesley , Nataliia Zymak-Zakutnia , Ester Garne

Clinical, genetic and biochemical signatures of

Journal of medical genetics
Avec: Julie Plaisancié , Jelena Martinovic , Bertrand Chesneau , Sandra Whalen , Diana Rodriguez , Séverine Audebert-Bellanger , Pauline Marzin , Sarah Grotto , Isabelle Perthus , Richard James Holt , Dorine A Bax , Nicola Ragge , Nicolas Chassaing

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

Amniotic band syndrome and limb body wall complex in Europe 1980-2019.

American journal of medical genetics. Part A
Avec: Jorieke E H Bergman , Ingeborg Barišić , Marie-Claude Addor , Paula Braz , Clara Cavero-Carbonell , Elizabeth S Draper , Luis J Echevarría-González-de-Garibay , Miriam Gatt , Martin Haeusler , Babak Khoshnood , Kari Klungsøyr , Jennifer J Kurinczuk , Anna Latos-Bielenska , Karen Luyt , Danielle Martin , Carmel Mullaney , Vera Nelen , Amanda J Neville , Mary T O'Mahony , Isabelle Perthus , Anna Pierini , Hanitra Randrianaivo , Judith Rankin , Anke Rissmann , Florence Rouget , Gerardine Sayers , Bruno Schaub , Sarah Stevens , David Tucker , Christine Verellen-Dumoulin , Awi Wiesel , Erica H Gerkes , Annie Perraud , Maria A Loane , Diana Wellesley , Hermien E K de Walle

Réseau de co-auteurs

Florence Rouget 12 collaborations
Miriam Gatt 11 collaborations
Vera Nelen 11 collaborations
Anna Pierini 11 collaborations
Judith Rankin 11 collaborations
Anke Rissmann 11 collaborations
David Tucker 11 collaborations
Diana Wellesley 11 collaborations
Marie-Claude Addor 10 collaborations
Clara Cavero-Carbonell 10 collaborations
Carmel Mullaney 9 collaborations
Hanitra Randrianaivo 9 collaborations
Bruno Schaub 9 collaborations
Martin Haeusler 8 collaborations
Karen Luyt 8 collaborations
Mary T O'Mahony 8 collaborations
Babak Khoshnood 7 collaborations
Ingeborg Barisic 7 collaborations
Hermien E K de Walle 7 collaborations
Jorieke E H Bergman 7 collaborations
Ester Garne 7 collaborations
Amanda J Neville 6 collaborations
Nathalie Lelong 6 collaborations
Carlos M Dias 5 collaborations
Elizabeth S Draper 5 collaborations
Kari Klungsoyr 5 collaborations
Monica Lanzoni 5 collaborations
Agnieszka Kinsner-Ovaskainen 5 collaborations
Paula Braz 5 collaborations
Jennifer J Kurinczuk 5 collaborations
Kari Klungsøyr 5 collaborations
Natalya Zymak-Zakutnia 4 collaborations
Anna Materna-Kiryluk 4 collaborations
Alessio Coi 4 collaborations
Michele Santoro 4 collaborations
Ingeborg Barišić 4 collaborations
Anna Latos-Bielenska 3 collaborations
Awi Wiesel 3 collaborations
Luis-Javier Echevarría-González-de-Garibay 3 collaborations
Céline Pebrel-Richard 3 collaborations
Ljubica Boban 3 collaborations
Olatz Mokoroa 3 collaborations
Romy van de Putte 2 collaborations
Iris A L M van Rooij 2 collaborations
Carlo L M Marcelis 2 collaborations
Han G Brunner 2 collaborations
Larraitz Etxebarriarteun 2 collaborations
Jenny J Kurinczuk 2 collaborations
Nicola Miller 2 collaborations
Maria Loane 2 collaborations
Nel Roeleveld 2 collaborations
Joan K Morris 2 collaborations
Elizabeth Limb 2 collaborations
Jennifer M Broughan 2 collaborations
Amanda Neville 2 collaborations
Geraldine Sayers 2 collaborations
Sarah Stevens 2 collaborations
Carole Goumy 2 collaborations
Zangbéwendé Guy Ouedraogo 2 collaborations
Gwendoline Soler 2 collaborations
Eleonore Eymard-Pierre 2 collaborations
Hélène Laurichesse 2 collaborations
Laetitia Gouas 2 collaborations
Gaëlle Salaun 2 collaborations
Lauren Véronèse 2 collaborations
Andrei Tchirkov 2 collaborations
Clément Ferrier 2 collaborations
Ferdinand Dhombres 2 collaborations
Jean-Marie Jouannic 2 collaborations
Isabelle Durand-Zaleski 2 collaborations
Elisa Ballardini 2 collaborations
Lyubov Yevtushok 2 collaborations
Chrysovalanto Mamasoula 2 collaborations
Kay Randall 2 collaborations
Sylvia Stoianova 2 collaborations
Bénédicte Bertaut-Nativel 2 collaborations
Lindsay Pennington 2 collaborations
Fabrizio Bianchi 2 collaborations
Nataliia Zymak-Zakutnia 2 collaborations
Gerardine Sayers 2 collaborations
Michel Guo 1 collaboration
Fabrice Kwiatkowski 1 collaboration
Nancy Uhrhammer 1 collaboration
Christine Francannet 1 collaboration
Marie Arbre 1 collaboration
Yannick Bidet 1 collaboration
Yves-Jean Bignon 1 collaboration
Marie Claude Addor 1 collaboration
Julie Masson 1 collaboration
Matthieu Egloff 1 collaboration
Mathilde Frétigny 1 collaboration
Marion Beaumont 1 collaboration
Kevin Uguen 1 collaboration
Pierre-Antoine Rollat-Farnier 1 collaboration
Flavie Diguet 1 collaboration
Gwenaël Le Gudayer 1 collaboration
Damien Haye 1 collaboration
Marie-Noëlle Bonnet Dupeyron 1 collaboration
Audrey Putoux 1 collaboration
Fabienne Raskin-Champion 1 collaboration
Marianne Till 1 collaboration
Nicolas Chatron 1 collaboration
Bérénice Doray 1 collaboration
Claire Bardel 1 collaboration
Christine Vinciguerra 1 collaboration
Damien Sanlaville 1 collaboration
Caroline Schluth-Bolard 1 collaboration
Amélie Delabaere 1 collaboration
Denis Gallot 1 collaboration
Pamela Bouchet 1 collaboration
Jérôme Salse 1 collaboration
Cynthia P Haanappel 1 collaboration
Amaia Aizpurua Atxega 1 collaboration
Martin Häusler 1 collaboration
Lorena Mezzasalma 1 collaboration
Ljubica Odak 1 collaboration
Katarzyna Wiśniewska 1 collaboration
Clara Cavero Carbonell 1 collaboration
Jean-Luc Alessandri 1 collaboration
Katarzyna Wisniewska 1 collaboration
Pierre-Olivier Blotière 1 collaboration
Fanny Raguideau 1 collaboration
Alain Weill 1 collaboration
Elisabeth Elefant 1 collaboration
Véronique Goulet 1 collaboration
Mahmoud Zureik 1 collaboration
Joël Coste 1 collaboration
Rosemary Dray-Spira 1 collaboration
Carlos Matias Dias 1 collaboration
Elisabeth S Draper 1 collaboration
Luis Javier Echevarría-González-de-Garibay 1 collaboration
Hanitra Randrianaivo-Ranjatoelina 1 collaboration
Wladimir Wertelecki 1 collaboration
Theophile Bigirumurame 1 collaboration
Thomas Chadwick 1 collaboration
Julie Boudet-Berquier 1 collaboration
Christophe Demattei 1 collaboration
Laurence Guldner 1 collaboration
Anne Gallay 1 collaboration
Sylvie Manouvrier 1 collaboration
Jérémie Botton 1 collaboration
Claire Philippat 1 collaboration
Fleur Delva 1 collaboration
Juliette Bloch 1 collaboration
Caroline Semaille 1 collaboration
Sylvie Odent 1 collaboration
Sylvie Babajko 1 collaboration
Tiphaine Barjat 1 collaboration
Claire Beneteau 1 collaboration
Naima Brennetot 1 collaboration
Georges Haddad 1 collaboration
Mounia Hocine 1 collaboration
Isabelle Lacroix 1 collaboration
Klervi Leuraud 1 collaboration
Michel Mench 1 collaboration
Joan Morris 1 collaboration
Sophie Patrier 1 collaboration
Arnaud Sartelet 1 collaboration
Alain Verloes 1 collaboration
Christophe Bonaldi 1 collaboration
Mélina Le Barbier 1 collaboration
Bertrand Gagnière 1 collaboration
Philippe Pépin 1 collaboration
Ronan Ollivier 1 collaboration
Monique Bitoun 1 collaboration
Lisa King 1 collaboration
Andrea Guajardo-Villar 1 collaboration
Eugenia Gomes 1 collaboration
Jean-Claude Desenclos 1 collaboration
Nolwenn Regnault 1 collaboration
Alexandra Benachi 1 collaboration
Amanda Julie Neville 1 collaboration
Lucie Guilbaut 1 collaboration
Silvia Baldacci 1 collaboration
Julie Plaisancié 1 collaboration
Jelena Martinovic 1 collaboration
Bertrand Chesneau 1 collaboration
Sandra Whalen 1 collaboration
Diana Rodriguez 1 collaboration
Séverine Audebert-Bellanger 1 collaboration
Pauline Marzin 1 collaboration
Sarah Grotto 1 collaboration
Richard James Holt 1 collaboration
Dorine A Bax 1 collaboration
Nicola Ragge 1 collaboration
Nicolas Chassaing 1 collaboration
Elodie Bellemonte 1 collaboration
Claude Darcha 1 collaboration
Luis J Echevarría-González-de-Garibay 1 collaboration
Danielle Martin 1 collaboration
Christine Verellen-Dumoulin 1 collaboration
Erica H Gerkes 1 collaboration
Annie Perraud 1 collaboration
Maria A Loane 1 collaboration