G Boursier

Affiliations

Centre national de référence des maladies auto-inflammatoires et des amyloses d'origine inflammatoire (CEREMAIA), Montpellier, France; Laboratoire de Génétique des Maladies rares et autoinflammatoires, Service de Génétique moléculaire et cytogénomique, CHU Montpellier, Univ Montpellier, Montpellier, France.

Publications (16)

ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.

Clinical chemistry

Avec: Yael Shinar , Isabella Ceccherini , Dorota Rowczenio , Ivona Aksentijevich , Juan Arostegui , Eldad Ben-Chétrit , Guilaine Boursier , Marco Gattorno , Hasmik Hayrapetyan , Hiroaki Ida , Nobuo Kanazawa , Helen J Lachmann , Anna Mensa-Vilaro , Ryuta Nishikomori , Christian Oberkanins , Laura Obici , Osamu Ohara , Seza Ozen , Tamara Sarkisian , Katie Sheils , Nicola Wolstenholme , Evelien Zonneveld-Huijssoon , Marielle E van Gijn , Isabelle Touitou

AA amyloidosis complicating cryopyrin-associated periodic syndrome: a study of 86 cases including 23 French patients and systematic review.

Rheumatology (Oxford, England)

Avec: François Rodrigues , Laurence Cuisset , Bérangère Cador-Rousseau , Irina Giurgea , Benedicte Neven , David Buob , Pierre Quartier , Eric Hachulla , Thierry Lequerré , Gérard Cam , Guilaine Boursier , Valérie Hervieu , Gilles Grateau , Sophie Georgin-Lavialle

Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammation.

The Journal of experimental medicine

Avec: Camille Cosson , Romane Riou , Danish Patoli , Tingting Niu , Amaury Rey , Marine Groslambert , Charlotte De Rosny , Elodie Chatre , Omran Allatif , Thomas Henry , Fabienne Venet , Florian Milhavet , Guilaine Boursier , Alexandre Belot , Yvan Jamilloux , Etienne Merlin , Agnès Duquesne , Gilles Grateau , Léa Savey , Alexandre Thibault Jacques Maria , Anne Pagnier , Solène Poutrel , Olivier Lambotte , Coralie Mallebranche , Samuel Ardois , Olivier Richer , Irène Lemelle , Frédéric Rieux-Laucat , Brigitte Bader-Meunier , Zahir Amoura , Isabelle Melki , Laurence Cuisset , Isabelle Touitou , Matthias Geyer , Sophie Georgin-Lavialle , Bénédicte F Py

A20 haploinsufficiency disturbs immune homeostasis and drives the transformation of lymphocytes with permissive antigen receptors.

Science advances

Avec: Christoph Schultheiß , Lisa Paschold , Alma Nazlie Mohebiany , Moritz Escher , Yogita Mallu Kattimani , Melanie Müller , Paul Schmidt-Barbo , Anna Mensa-Vilaró , Juan Ignacio Aróstegui , Guilaine Boursier , Claire de Moreuil , Timo Hautala , Edith Willscher , Hanna Jonas , Namuun Chinchuluun , Bianca Grosser , Bruno Märkl , Wolfram Klapper , Prasad Thomas Oommen , Katharina Gössling , Katrin Hoffmann , Gisa Tiegs , Felix Czernilofsky , Sascha Dietrich , Alexandra Freeman , Daniella M Schwartz , Ari Waisman , Ivona Aksentijevich , Mascha Binder

Growth charts in Kabuki syndrome 1.

American journal of medical genetics. Part A

Avec: Valentin Ruault , Carole Corsini , Claire Duflos , Sandrine Akouete , Véra Georgescu , Mario Abaji , Yves Alembick , Eudeline Alix , Jeanne Amiel , Cyril Amouroux , Mouna Barat-Houari , Clarisse Baumann , Adeline Bonnard , Guilaine Boursier , Odile Boute , Lydie Burglen , Tiffany Busa , Marie-Pierre Cordier , Valérie Cormier-Daire , Marie-Ange Delrue , Bérénice Doray , Laurence Faivre , Mélanie Fradin , Brigitte Gilbert-Dussardier , Fabienne Giuliano , Alice Goldenberg , Svetlana Gorokhova , Delphine Héron , Bertrand Isidor , Marie-Line Jacquemont , Aurélia Jacquette , Claire Jeandel , Didier Lacombe , Martine Le Merrer , Kim Hanh Le Quan Sang , Stanislas Lyonnet , Sylvie Manouvrier , Caroline Michot , Anne Moncla , Sébastien Moutton , Sylvie Odent , Anna Pelet , Nicole Philip , Lucile Pinson , Julie Reversat , Joëlle Roume , Elodie Sanchez , Damien Sanlaville , Pierre Sarda , Elise Schaefer , Marianne Till , Isabelle Touitou , Annick Toutain , Marjolaine Willems , Vincent Gatinois , David Geneviève

Anatomical and functional abnormalities on MRI in kabuki syndrome.

NeuroImage. Clinical

Avec: Jennifer Boisgontier , Jean Marc Tacchella , Hervé Lemaître , Natacha Lehman , Ana Saitovitch , Vincent Gatinois , Guilaine Boursier , Elodie Sanchez , Elza Rechtman , Ludovic Fillon , Stanislas Lyonnet , Kim-Hanh Le Quang Sang , Genevieve Baujat , Marlene Rio , Odile Boute , Laurence Faivre , Elise Schaefer , Damien Sanlaville , Monica Zilbovicius , David Grévent , David Geneviève , Nathalie Boddaert

La Revue de medecine interne

Avec: I Elhani , A Aouba , Q Riller , H Vergneault , G Boursier , F Rieux-Laucat , V Hentgen , S Georgin-Lavialle

A20 haploinsufficiency: A systematic review of 177 cases.

The Journal of investigative dermatology

Avec: Inès Elhani , Quentin Riller , Guilaine Boursier , Véronique Hentgen , Frédéric Rieux-Laucat , Sophie Georgin-Lavialle

Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital's perspective.

European journal of human genetics : EJHG

Avec: Constance F Wells , Guilaine Boursier , Kevin Yauy , Nathalie Ruiz-Pallares , Déborah Mechin , Valentin Ruault , Mylène Tharreau , Patricia Blanchet , Lucile Pinson , Christine Coubes , Marc Fila , Julien Baleine , Odile Pidoux , Maliha Badr , Christophe Milesi , Gilles Cambonie , Renaud Mesnage , Maëlle Dereure , Olivier Ardouin , Thomas Guignard , David Geneviève , Mouna Barat-Houari , Marjolaine Willems

Pathogenic variants in the NLRP3 LRR domain at position 861 are responsible for a boost-dependent atypical CAPS phenotype.

The Journal of allergy and clinical immunology

Avec: Antoine Fayand , Margaux Cescato , Laurent Le Corre , Alexandre Terré , Margaux Wacheux , Yixiang Y J Zhu , Armelle Melet , Thomas R J Moreau , Bahram Bodaghi , Fabrice Bonnet , Didier Bronnimann , Laurence Cuisset , Raquel Faria , Gilles Grateau , Pascal Pillet , Catharina M Mulders-Manders , Benedicte Neven , Pierre Quartier , Olivier Richer , Léa Savey , Marie-Elise Truchetet , Bénédicte F Py , Guilaine Boursier , Jean-Philippe Herbeuval , Sophie Georgin-Lavialle , Mathieu P Rodero

[Autoinflammatory diseases in children: The contribution of genetics].

La Revue du praticien

Avec: Guilaine Boursier , Isabelle Touitou

EFLM Working Group Accreditation and ISO/CEN standards on dealing with ISO 15189 demands for retention of documents and examination objects.

Advances in laboratory medicine

Avec: Pika Meško Brguljan , Marc H M Thelen , Francisco A Bernabeu-Andreu , Christos Kroupis , Guilaine Boursier , Ines Vukasović , Edward Barrett , Duilio Brugnoni , Maria Lohmander , Luděk Šprongl , Tatjana Vodnik , Irina Ghiţă , Florent Vanstapel , Michel Vaubourdolle , Willem Huisman

Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation.

Journal of clinical medicine

Avec: Guilaine Boursier , Cécile Rittore , Florian Milhavet , Laurence Cuisset , Isabelle Touitou

Phenotypic Associations of PSTPIP1 Sequence Variants in PSTPIP1-Associated Autoinflammatory Diseases.

The Journal of investigative dermatology

Avec: Guilaine Boursier , Maryam Piram , Cécile Rittore , Guillaume Sarrabay , Isabelle Touitou

Validation and verification of examination procedures in medical laboratories: opinion of the EFLM Working Group Accreditation and ISO/CEN standards (WG-A/ISO) on dealing with ISO 15189:2012 demands for method verification and validation.

Clinical chemistry and laboratory medicine

Avec: Roseri Roelofsen-de Beer , Jos Wielders , Guilaine Boursier , Tatjana Vodnik , Florent Vanstapel , Willem Huisman , Ines Vukasović , Michel Vaubourdolle , Çiğdem Sönmez , Solveig Linko , Duilio Brugnoni , Christos Kroupis , Maria Lohmander , Luděk Šprongl , Francisco Bernabeu-Andreu , Pika Meško Brguljan , Marc Thelen

DADA2 diagnosed in adulthood versus childhood: A comparative study on 306 patients including a systematic literature review and 12 French cases.

Seminars in arthritis and rheumatism

Avec: Antoine Fayand , François Chasset , David Boutboul , Viviane Queyrel , Nathalie Tieulié , Isabelle Guichard , Nicolas Dupin , Nathalie Franck , Pascal Cohen , Didier Bessis , Guillaume Le Guenno , Isabelle Koné-Paut , Alexandre Belot , Axelle Bonhomme , Stéphanie Ducharme-Bénard , Gilles Grateau , Guillaume Sarrabay , Isabelle Touitou , Guilaine Boursier , Sophie Georgin-Lavialle

Réseau de co-auteurs

Guilaine Boursier 15 collaborations

Isabelle Touitou 7 collaborations

Sophie Georgin-Lavialle 5 collaborations

Laurence Cuisset 4 collaborations

Gilles Grateau 4 collaborations

David Geneviève 3 collaborations

Ivona Aksentijevich 2 collaborations

Benedicte Neven 2 collaborations

Pierre Quartier 2 collaborations

Florian Milhavet 2 collaborations

Alexandre Belot 2 collaborations

Léa Savey 2 collaborations

Olivier Richer 2 collaborations

Frédéric Rieux-Laucat 2 collaborations

Bénédicte F Py 2 collaborations

Valentin Ruault 2 collaborations

Mouna Barat-Houari 2 collaborations

Odile Boute 2 collaborations

Laurence Faivre 2 collaborations

Stanislas Lyonnet 2 collaborations

Lucile Pinson 2 collaborations

Elodie Sanchez 2 collaborations

Damien Sanlaville 2 collaborations

Elise Schaefer 2 collaborations

Marjolaine Willems 2 collaborations

Vincent Gatinois 2 collaborations

Antoine Fayand 2 collaborations

Pika Meško Brguljan 2 collaborations

Christos Kroupis 2 collaborations

Ines Vukasović 2 collaborations

Duilio Brugnoni 2 collaborations

Maria Lohmander 2 collaborations

Luděk Šprongl 2 collaborations

Tatjana Vodnik 2 collaborations

Florent Vanstapel 2 collaborations

Michel Vaubourdolle 2 collaborations

Willem Huisman 2 collaborations

Cécile Rittore 2 collaborations

Guillaume Sarrabay 2 collaborations

Yael Shinar 1 collaboration

Isabella Ceccherini 1 collaboration

Dorota Rowczenio 1 collaboration

Juan Arostegui 1 collaboration

Eldad Ben-Chétrit 1 collaboration

Marco Gattorno 1 collaboration

Hasmik Hayrapetyan 1 collaboration

Hiroaki Ida 1 collaboration

Nobuo Kanazawa 1 collaboration

Helen J Lachmann 1 collaboration

Anna Mensa-Vilaro 1 collaboration

Ryuta Nishikomori 1 collaboration

Christian Oberkanins 1 collaboration

Laura Obici 1 collaboration

Osamu Ohara 1 collaboration

Seza Ozen 1 collaboration

Tamara Sarkisian 1 collaboration

Katie Sheils 1 collaboration

Nicola Wolstenholme 1 collaboration

Evelien Zonneveld-Huijssoon 1 collaboration

Marielle E van Gijn 1 collaboration

François Rodrigues 1 collaboration

Bérangère Cador-Rousseau 1 collaboration

Irina Giurgea 1 collaboration

David Buob 1 collaboration

Eric Hachulla 1 collaboration

Thierry Lequerré 1 collaboration

Gérard Cam 1 collaboration

Valérie Hervieu 1 collaboration

Camille Cosson 1 collaboration

Romane Riou 1 collaboration

Danish Patoli 1 collaboration

Tingting Niu 1 collaboration

Amaury Rey 1 collaboration

Marine Groslambert 1 collaboration

Charlotte De Rosny 1 collaboration

Elodie Chatre 1 collaboration

Omran Allatif 1 collaboration

Thomas Henry 1 collaboration

Fabienne Venet 1 collaboration

Yvan Jamilloux 1 collaboration

Etienne Merlin 1 collaboration

Agnès Duquesne 1 collaboration

Alexandre Thibault Jacques Maria 1 collaboration

Anne Pagnier 1 collaboration

Solène Poutrel 1 collaboration

Olivier Lambotte 1 collaboration

Coralie Mallebranche 1 collaboration

Samuel Ardois 1 collaboration

Irène Lemelle 1 collaboration

Brigitte Bader-Meunier 1 collaboration

Zahir Amoura 1 collaboration

Isabelle Melki 1 collaboration

Matthias Geyer 1 collaboration

Christoph Schultheiß 1 collaboration

Lisa Paschold 1 collaboration

Alma Nazlie Mohebiany 1 collaboration

Moritz Escher 1 collaboration

Yogita Mallu Kattimani 1 collaboration

Melanie Müller 1 collaboration

Paul Schmidt-Barbo 1 collaboration

Anna Mensa-Vilaró 1 collaboration

Juan Ignacio Aróstegui 1 collaboration

Claire de Moreuil 1 collaboration

Timo Hautala 1 collaboration

Edith Willscher 1 collaboration

Hanna Jonas 1 collaboration

Namuun Chinchuluun 1 collaboration

Bianca Grosser 1 collaboration

Bruno Märkl 1 collaboration

Wolfram Klapper 1 collaboration

Prasad Thomas Oommen 1 collaboration

Katharina Gössling 1 collaboration

Katrin Hoffmann 1 collaboration

Gisa Tiegs 1 collaboration

Felix Czernilofsky 1 collaboration

Sascha Dietrich 1 collaboration

Alexandra Freeman 1 collaboration

Daniella M Schwartz 1 collaboration

Ari Waisman 1 collaboration

Mascha Binder 1 collaboration

Carole Corsini 1 collaboration

Claire Duflos 1 collaboration

Sandrine Akouete 1 collaboration

Véra Georgescu 1 collaboration

Mario Abaji 1 collaboration

Yves Alembick 1 collaboration

Eudeline Alix 1 collaboration

Jeanne Amiel 1 collaboration

Cyril Amouroux 1 collaboration

Clarisse Baumann 1 collaboration

Adeline Bonnard 1 collaboration

Lydie Burglen 1 collaboration

Tiffany Busa 1 collaboration

Marie-Pierre Cordier 1 collaboration

Valérie Cormier-Daire 1 collaboration

Marie-Ange Delrue 1 collaboration

Bérénice Doray 1 collaboration

Mélanie Fradin 1 collaboration

Brigitte Gilbert-Dussardier 1 collaboration

Fabienne Giuliano 1 collaboration

Alice Goldenberg 1 collaboration

Svetlana Gorokhova 1 collaboration

Delphine Héron 1 collaboration

Bertrand Isidor 1 collaboration

Marie-Line Jacquemont 1 collaboration

Aurélia Jacquette 1 collaboration

Claire Jeandel 1 collaboration

Didier Lacombe 1 collaboration

Martine Le Merrer 1 collaboration

Kim Hanh Le Quan Sang 1 collaboration

Sylvie Manouvrier 1 collaboration

Caroline Michot 1 collaboration

Anne Moncla 1 collaboration

Sébastien Moutton 1 collaboration

Sylvie Odent 1 collaboration

Anna Pelet 1 collaboration

Nicole Philip 1 collaboration

Julie Reversat 1 collaboration

Joëlle Roume 1 collaboration

Pierre Sarda 1 collaboration

Marianne Till 1 collaboration

Annick Toutain 1 collaboration

Jennifer Boisgontier 1 collaboration

Jean Marc Tacchella 1 collaboration

Hervé Lemaître 1 collaboration

Natacha Lehman 1 collaboration

Ana Saitovitch 1 collaboration

Elza Rechtman 1 collaboration

Ludovic Fillon 1 collaboration

Kim-Hanh Le Quang Sang 1 collaboration

Genevieve Baujat 1 collaboration

Marlene Rio 1 collaboration

Monica Zilbovicius 1 collaboration

David Grévent 1 collaboration

Nathalie Boddaert 1 collaboration

I Elhani 1 collaboration

A Aouba 1 collaboration

Q Riller 1 collaboration

H Vergneault 1 collaboration

F Rieux-Laucat 1 collaboration

V Hentgen 1 collaboration

S Georgin-Lavialle 1 collaboration

Inès Elhani 1 collaboration

Quentin Riller 1 collaboration

Véronique Hentgen 1 collaboration

Constance F Wells 1 collaboration

Kevin Yauy 1 collaboration

Nathalie Ruiz-Pallares 1 collaboration

Déborah Mechin 1 collaboration

Mylène Tharreau 1 collaboration

Patricia Blanchet 1 collaboration

Christine Coubes 1 collaboration

Marc Fila 1 collaboration

Julien Baleine 1 collaboration

Odile Pidoux 1 collaboration

Maliha Badr 1 collaboration

Christophe Milesi 1 collaboration

Gilles Cambonie 1 collaboration

Renaud Mesnage 1 collaboration

Maëlle Dereure 1 collaboration

Olivier Ardouin 1 collaboration

Thomas Guignard 1 collaboration

Margaux Cescato 1 collaboration

Laurent Le Corre 1 collaboration

Alexandre Terré 1 collaboration

Margaux Wacheux 1 collaboration

Yixiang Y J Zhu 1 collaboration

Armelle Melet 1 collaboration

Thomas R J Moreau 1 collaboration

Bahram Bodaghi 1 collaboration

Fabrice Bonnet 1 collaboration

Didier Bronnimann 1 collaboration

Raquel Faria 1 collaboration

Pascal Pillet 1 collaboration

Catharina M Mulders-Manders 1 collaboration

Marie-Elise Truchetet 1 collaboration

Jean-Philippe Herbeuval 1 collaboration

Mathieu P Rodero 1 collaboration

Marc H M Thelen 1 collaboration

Francisco A Bernabeu-Andreu 1 collaboration

Edward Barrett 1 collaboration

Irina Ghiţă 1 collaboration

Maryam Piram 1 collaboration

Roseri Roelofsen-de Beer 1 collaboration

Jos Wielders 1 collaboration

Çiğdem Sönmez 1 collaboration

Solveig Linko 1 collaboration

Francisco Bernabeu-Andreu 1 collaboration

Marc Thelen 1 collaboration

François Chasset 1 collaboration

David Boutboul 1 collaboration

Viviane Queyrel 1 collaboration

Nathalie Tieulié 1 collaboration

Isabelle Guichard 1 collaboration

Nicolas Dupin 1 collaboration

Nathalie Franck 1 collaboration

Pascal Cohen 1 collaboration

Didier Bessis 1 collaboration

Guillaume Le Guenno 1 collaboration

Isabelle Koné-Paut 1 collaboration

Axelle Bonhomme 1 collaboration

Stéphanie Ducharme-Bénard 1 collaboration