Lucile Pinson

Affiliations

University of Montpellier, département de Génétique, maladies rares médecine personnalisée, U 1298, CHU Montpellier, University of Montpellier, Montpellier, France.

Publications (9)

Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.

Human genomics

Avec: Evin M Padhi , Tristan J Hayeck , Zhang Cheng , Sumantra Chatterjee , Brandon J Mannion , Marta Byrska-Bishop , Marjolaine Willems , Sylvia Redon , Caroline Benech , Kevin Uguen , Séverine Audebert-Bellanger , Cédric Le Marechal , Claude Férec , Stephanie Efthymiou , Fatima Rahman , Shazia Maqbool , Reza Maroofian , Henry Houlden , Rajeeva Musunuri , Giuseppe Narzisi , Avinash Abhyankar , Riana D Hunter , Jennifer Akiyama , Lauren E Fries , Jeffrey K Ng , Elvisa Mehinovic , Nick Stong , Andrew S Allen , Diane E Dickel , Raphael A Bernier , David U Gorkin , Len A Pennacchio , Michael C Zody , Tychele N Turner

Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.

Clinical genetics

Avec: Laura Mary , Kirsley Chennen , Corinne Stoetzel , Manuela Antin , Anne Leuvrey , Elsa Nourisson , Elisabeth Alanio-Detton , Maria C Antal , Tania Attié-Bitach , Patrice Bouvagnet , Raymonde Bouvier , Annie Buenerd , Alix Clémenson , Louise Devisme , Bernard Gasser , Brigitte Gilbert-Dussardier , Fabien Guimiot , Philippe Khau Van Kien , Brigitte Leroy , Philippe Loget , Jelena Martinovic , Fanny Pelluard , Marie-Josée Perez , Florence Petit , Caroline Rooryck-Thambo , Olivier Poch , Hélène Dollfus , Elise Schaefer , Jean Muller

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum.

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

Avec: Victoria E R Parker , Kim M Keppler-Noreuil , Laurence Faivre , Maxime Luu , Neal L Oden , Leena De Silva , Julie C Sapp , Katrina Andrews , Marc Bardou , Kong Y Chen , Thomas N Darling , Elodie Gautier , Barry R Goldspiel , Smail Hadj-Rabia , Julie Harris , Georgios Kounidas , Parag Kumar , Marjorie J Lindhurst , Romaric Loffroy , Ludovic Martin , Alice Phan , Kristina I Rother , Brigitte C Widemann , Pamela L Wolters , Christine Coubes , Marjolaine Willems , Catherine Vincent-Delorme , Auteur inconnu , Pierre Vabres , Robert K Semple , Leslie G Biesecker

FGF14-related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9.

Annals of clinical and translational neurology

Avec: Julie Piarroux , Florence Riant , Véronique Humbertclaude , Ganaelle Remerand , Jessica Hadjadj , Franck Rejou , Christine Coubes , Pierre Meyer , Agathe Roubertie

New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients.

RNA (New York, N.Y.)

Avec: Audric Cologne , Clara Benoit-Pilven , Alicia Besson , Audrey Putoux , Amandine Campan-Fournier , Michael B Bober , Christine E M De Die-Smulders , Aimee D C Paulussen , Annick Toutain , Chaim M Roifman , Anne-Louise Leutenegger , Sylvie Mazoyer , Patrick Edery , Vincent Lacroix

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients.

The British journal of dermatology

Avec: D Bessis , F Morice-Picard , E Bourrat , C Abadie , S Aouinti , C Baumann , M Best , A-C Bursztejn , Y Capri , C Chiaverini , C Coubes , F Giuliano , S Hadj-Rabia , M-L Jacquemont , D Lacombe , S Lyonnet , S Mallet , J Mazereeuw-Hautier , J Miquel , N Molinari , B Parfait , C Pernet , N Philip , L Pinson , N Pouvreau , Y Vial , P Sarda , S Sigaudy , A Verloes , H Cavé , D Geneviève

Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.

Journal of medical genetics

Avec: Quentin Testard , Xavier Vanhoye , Kevin Yauy , Marie-Emmanuelle Naud , Gaelle Vieville , Francis Rousseau , Benjamin Dauriat , Valentine Marquet , Sylvie Bourthoumieu , David Geneviève , Vincent Gatinois , Constance Wells , Marjolaine Willems , Christine Coubes , Rodolphe Dard , Aude Tessier , Bérénice Hervé , François Vialard , Ines Harzallah , Renaud Touraine , Benjamin Cogné , Wallid Deb , Thomas Besnard , Olivier Pichon , Béatrice Laudier , Laurent Mesnard , Alice Doreille , Tiffany Busa , Chantal Missirian , Véronique Satre , Charles Coutton , Tristan Celse , Radu Harbuz , Laure Raymond , Jean-François Taly , Julien Thevenon

Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.

Clinical genetics

Avec: Laurence Faivre , Jean-Charles Crépin , Manon Réda , Sophie Nambot , Virginie Carmignac , Caroline Abadie , Tristan Mirault , Cécile Faure-Conter , Juliette Mazereeuw-Hautier , Aude Maza , Eve Puzenat , Marie-Agnès Collonge-Rame , Anne-Claire Bursztejn , Christophe Philippe , Christel Thauvin-Robinet , Martin Chevarin , Claire Abasq-Thomas , Jeanne Amiel , Stéphanie Arpin , Sébastien Barbarot , Geneviève Baujat , Didier Bessis , Emmanuelle Bourrat , Odile Boute , Nicolas Chassaing , Christine Coubes , Bénédicte Demeer , Patrick Edery , Salima El Chehadeh , Alice Goldenberg , Smail Hadj-Rabia , Damien Haye , Bertrand Isidor , Marie-Line Jacquemont , Philippe Khau Van Kien , Didier Lacombe , Daphné Lehalle , Laetitia Lambert , Ludovic Martin , Annabel Maruani , Fanny Morice-Picard , Florence Petit , Alice Phan , Massimiliano Rossi , Renaud Touraine , Clémence Vanlerberghe , Marie Vincent , Catherine Vincent-Delorme , Sandra Whalen , Marjolaine Willems , Nathalie Marle , Virginie Verkarre , Christine Devalland , Mojgan Devouassoux-Shisheboran , Marine Abad , Nathalie Rioux-Leclercq , Bertille Bonniaud , Yannis Duffourd , Jehanne Martel , Christine Binquet , Paul Kuentz , Pierre Vabres

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 , Julie Reversat , Joëlle Roume , Elodie Sanchez , Damien Sanlaville , Pierre Sarda , Elise Schaefer , Marianne Till , Isabelle Touitou , Annick Toutain , Marjolaine Willems , Vincent Gatinois , David Geneviève

Réseau de co-auteurs

Marjolaine Willems 5 collaborations

Christine Coubes 4 collaborations

Laurence Faivre 3 collaborations

Brigitte Gilbert-Dussardier 2 collaborations

Philippe Khau Van Kien 2 collaborations

Florence Petit 2 collaborations

Elise Schaefer 2 collaborations

Smail Hadj-Rabia 2 collaborations

Ludovic Martin 2 collaborations

Alice Phan 2 collaborations

Catherine Vincent-Delorme 2 collaborations

Pierre Vabres 2 collaborations

Annick Toutain 2 collaborations

Patrick Edery 2 collaborations

David Geneviève 2 collaborations

Vincent Gatinois 2 collaborations

Renaud Touraine 2 collaborations

Tiffany Busa 2 collaborations

Jeanne Amiel 2 collaborations

Odile Boute 2 collaborations

Alice Goldenberg 2 collaborations

Bertrand Isidor 2 collaborations

Marie-Line Jacquemont 2 collaborations

Didier Lacombe 2 collaborations

Evin M Padhi 1 collaboration

Tristan J Hayeck 1 collaboration

Zhang Cheng 1 collaboration

Sumantra Chatterjee 1 collaboration

Brandon J Mannion 1 collaboration

Marta Byrska-Bishop 1 collaboration

Sylvia Redon 1 collaboration

Caroline Benech 1 collaboration

Kevin Uguen 1 collaboration

Séverine Audebert-Bellanger 1 collaboration

Cédric Le Marechal 1 collaboration

Claude Férec 1 collaboration

Stephanie Efthymiou 1 collaboration

Fatima Rahman 1 collaboration

Shazia Maqbool 1 collaboration

Reza Maroofian 1 collaboration

Henry Houlden 1 collaboration

Rajeeva Musunuri 1 collaboration

Giuseppe Narzisi 1 collaboration

Avinash Abhyankar 1 collaboration

Riana D Hunter 1 collaboration

Jennifer Akiyama 1 collaboration

Lauren E Fries 1 collaboration

Jeffrey K Ng 1 collaboration

Elvisa Mehinovic 1 collaboration

Nick Stong 1 collaboration

Andrew S Allen 1 collaboration

Diane E Dickel 1 collaboration

Raphael A Bernier 1 collaboration

David U Gorkin 1 collaboration

Len A Pennacchio 1 collaboration

Michael C Zody 1 collaboration

Tychele N Turner 1 collaboration

Laura Mary 1 collaboration

Kirsley Chennen 1 collaboration

Corinne Stoetzel 1 collaboration

Manuela Antin 1 collaboration

Anne Leuvrey 1 collaboration

Elsa Nourisson 1 collaboration

Elisabeth Alanio-Detton 1 collaboration

Maria C Antal 1 collaboration

Tania Attié-Bitach 1 collaboration

Patrice Bouvagnet 1 collaboration

Raymonde Bouvier 1 collaboration

Annie Buenerd 1 collaboration

Alix Clémenson 1 collaboration

Louise Devisme 1 collaboration

Bernard Gasser 1 collaboration

Fabien Guimiot 1 collaboration

Brigitte Leroy 1 collaboration

Philippe Loget 1 collaboration

Jelena Martinovic 1 collaboration

Fanny Pelluard 1 collaboration

Marie-Josée Perez 1 collaboration

Caroline Rooryck-Thambo 1 collaboration

Olivier Poch 1 collaboration

Hélène Dollfus 1 collaboration

Jean Muller 1 collaboration

Victoria E R Parker 1 collaboration

Kim M Keppler-Noreuil 1 collaboration

Maxime Luu 1 collaboration

Neal L Oden 1 collaboration

Leena De Silva 1 collaboration

Julie C Sapp 1 collaboration

Katrina Andrews 1 collaboration

Marc Bardou 1 collaboration

Kong Y Chen 1 collaboration

Thomas N Darling 1 collaboration

Elodie Gautier 1 collaboration

Barry R Goldspiel 1 collaboration

Julie Harris 1 collaboration

Georgios Kounidas 1 collaboration

Parag Kumar 1 collaboration

Marjorie J Lindhurst 1 collaboration

Romaric Loffroy 1 collaboration

Kristina I Rother 1 collaboration

Brigitte C Widemann 1 collaboration

Pamela L Wolters 1 collaboration

None None 1 collaboration

Robert K Semple 1 collaboration

Leslie G Biesecker 1 collaboration

Julie Piarroux 1 collaboration

Florence Riant 1 collaboration

Véronique Humbertclaude 1 collaboration

Ganaelle Remerand 1 collaboration

Jessica Hadjadj 1 collaboration

Franck Rejou 1 collaboration

Pierre Meyer 1 collaboration

Agathe Roubertie 1 collaboration

Audric Cologne 1 collaboration

Clara Benoit-Pilven 1 collaboration

Alicia Besson 1 collaboration

Audrey Putoux 1 collaboration

Amandine Campan-Fournier 1 collaboration

Michael B Bober 1 collaboration

Christine E M De Die-Smulders 1 collaboration

Aimee D C Paulussen 1 collaboration

Chaim M Roifman 1 collaboration

Anne-Louise Leutenegger 1 collaboration

Sylvie Mazoyer 1 collaboration

Vincent Lacroix 1 collaboration

D Bessis 1 collaboration

F Morice-Picard 1 collaboration

E Bourrat 1 collaboration

C Abadie 1 collaboration

S Aouinti 1 collaboration

C Baumann 1 collaboration

M Best 1 collaboration

A-C Bursztejn 1 collaboration

Y Capri 1 collaboration

C Chiaverini 1 collaboration

C Coubes 1 collaboration

F Giuliano 1 collaboration

S Hadj-Rabia 1 collaboration

M-L Jacquemont 1 collaboration

D Lacombe 1 collaboration

S Lyonnet 1 collaboration

S Mallet 1 collaboration

J Mazereeuw-Hautier 1 collaboration

J Miquel 1 collaboration

N Molinari 1 collaboration

B Parfait 1 collaboration

C Pernet 1 collaboration

N Philip 1 collaboration

L Pinson 1 collaboration

N Pouvreau 1 collaboration

Y Vial 1 collaboration

P Sarda 1 collaboration

S Sigaudy 1 collaboration

A Verloes 1 collaboration

H Cavé 1 collaboration

D Geneviève 1 collaboration

Quentin Testard 1 collaboration

Xavier Vanhoye 1 collaboration

Kevin Yauy 1 collaboration

Marie-Emmanuelle Naud 1 collaboration

Gaelle Vieville 1 collaboration

Francis Rousseau 1 collaboration

Benjamin Dauriat 1 collaboration

Valentine Marquet 1 collaboration

Sylvie Bourthoumieu 1 collaboration

Constance Wells 1 collaboration

Rodolphe Dard 1 collaboration

Aude Tessier 1 collaboration

Bérénice Hervé 1 collaboration

François Vialard 1 collaboration

Ines Harzallah 1 collaboration

Benjamin Cogné 1 collaboration

Wallid Deb 1 collaboration

Thomas Besnard 1 collaboration

Olivier Pichon 1 collaboration

Béatrice Laudier 1 collaboration

Laurent Mesnard 1 collaboration

Alice Doreille 1 collaboration

Chantal Missirian 1 collaboration

Véronique Satre 1 collaboration

Charles Coutton 1 collaboration

Tristan Celse 1 collaboration

Radu Harbuz 1 collaboration

Laure Raymond 1 collaboration

Jean-François Taly 1 collaboration

Julien Thevenon 1 collaboration

Jean-Charles Crépin 1 collaboration

Manon Réda 1 collaboration

Sophie Nambot 1 collaboration

Virginie Carmignac 1 collaboration

Caroline Abadie 1 collaboration

Tristan Mirault 1 collaboration

Cécile Faure-Conter 1 collaboration

Juliette Mazereeuw-Hautier 1 collaboration

Aude Maza 1 collaboration

Eve Puzenat 1 collaboration

Marie-Agnès Collonge-Rame 1 collaboration

Anne-Claire Bursztejn 1 collaboration

Christophe Philippe 1 collaboration

Christel Thauvin-Robinet 1 collaboration

Martin Chevarin 1 collaboration

Claire Abasq-Thomas 1 collaboration

Stéphanie Arpin 1 collaboration

Sébastien Barbarot 1 collaboration

Geneviève Baujat 1 collaboration

Didier Bessis 1 collaboration

Emmanuelle Bourrat 1 collaboration

Nicolas Chassaing 1 collaboration

Bénédicte Demeer 1 collaboration

Salima El Chehadeh 1 collaboration

Damien Haye 1 collaboration

Daphné Lehalle 1 collaboration

Laetitia Lambert 1 collaboration

Annabel Maruani 1 collaboration

Fanny Morice-Picard 1 collaboration

Massimiliano Rossi 1 collaboration

Clémence Vanlerberghe 1 collaboration

Marie Vincent 1 collaboration

Sandra Whalen 1 collaboration

Nathalie Marle 1 collaboration

Virginie Verkarre 1 collaboration

Christine Devalland 1 collaboration

Mojgan Devouassoux-Shisheboran 1 collaboration

Marine Abad 1 collaboration

Nathalie Rioux-Leclercq 1 collaboration

Bertille Bonniaud 1 collaboration

Yannis Duffourd 1 collaboration

Jehanne Martel 1 collaboration

Christine Binquet 1 collaboration

Paul Kuentz 1 collaboration

Valentin Ruault 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

Cyril Amouroux 1 collaboration

Mouna Barat-Houari 1 collaboration

Clarisse Baumann 1 collaboration

Adeline Bonnard 1 collaboration

Guilaine Boursier 1 collaboration

Lydie Burglen 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

Fabienne Giuliano 1 collaboration

Svetlana Gorokhova 1 collaboration

Delphine Héron 1 collaboration

Aurélia Jacquette 1 collaboration

Claire Jeandel 1 collaboration

Martine Le Merrer 1 collaboration

Kim Hanh Le Quan Sang 1 collaboration

Stanislas Lyonnet 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

Elodie Sanchez 1 collaboration

Damien Sanlaville 1 collaboration

Pierre Sarda 1 collaboration

Marianne Till 1 collaboration

Isabelle Touitou 1 collaboration