Sophie Julia

Affiliations

Service de Génétique Médicale, CHU de Toulouse - Hôpital Purpan, Toulouse, France.

Publications (7)

Early-onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling.

Clinical genetics

Avec: Sarah Baer , Cathy Obringer , Sophie Julia , Jameleddine Chelly , Yline Capri , Domitille Gras , Geneviève Baujat , Têmis Maria Felix , Berenice Doray , Jaime Sanchez Del Pozo , Lina M Ramos , Lydie Burglen , Vincent Laugel , Nadège Calmels

The different clinical facets of

Frontiers in cell and developmental biology

Avec: Ilaria Parenti , Elsa Leitão , Alma Kuechler , Laurent Villard , Cyril Goizet , Cécile Courdier , Allan Bayat , Alessandra Rossi , Sophie Julia , Ange-Line Bruel , Frédéric Tran Mau-Them , Sophie Nambot , Daphné Lehalle , Marjolaine Willems , James Lespinasse , Jamal Ghoumid , Roseline Caumes , Thomas Smol , Salima El Chehadeh , Elise Schaefer , Marie-Thérèse Abi-Warde , Boris Keren , Alexandra Afenjar , Anne-Claude Tabet , Jonathan Levy , Anna Maruani , Ángel Aledo-Serrano , Waltraud Garming , Clara Milleret-Pignot , Anna Chassevent , Marije Koopmans , Nienke E Verbeek , Richard Person , Rebecca Belles , Gary Bellus , Bonnie A Salbert , Frank J Kaiser , Laure Mazzola , Philippe Convers , Laurine Perrin , Amélie Piton , Gert Wiegand , Andrea Accogli , Francesco Brancati , Fabio Benfenati , Nicolas Chatron , David Lewis-Smith , Rhys H Thomas , Federico Zara , Pasquale Striano , Gaetan Lesca , Christel Depienne

Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.

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

Avec: Víctor Faundes , Stephanie Goh , Rhoda Akilapa , Heidre Bezuidenhout , Hans T Bjornsson , Lisa Bradley , Angela F Brady , Elise Brischoux-Boucher , Han Brunner , Saskia Bulk , Natalie Canham , Declan Cody , Maria Lisa Dentici , Maria Cristina Digilio , Frances Elmslie , Andrew E Fry , Harinder Gill , Jane Hurst , Diana Johnson , Sophie Julia , Katherine Lachlan , Robert Roger Lebel , Melissa Byler , Eric Gershon , Edmond Lemire , Maria Gnazzo , Francesca Romana Lepri , Antonia Marchese , Meriel McEntagart , Julie McGaughran , Seiji Mizuno , Nobuhiko Okamoto , Claudine Rieubland , Jonathan Rodgers , Erina Sasaki , Emmanuel Scalais , Ingrid Scurr , Mohnish Suri , Ineke van der Burgt , Naomichi Matsumoto , Noriko Miyake , Valérie Benoit , Damien Lederer , Siddharth Banka

Severe Phenotype in Patients with Large Deletions of

Cancers

Avec: Laurence Pacot , Dominique Vidaud , Audrey Sabbagh , Ingrid Laurendeau , Audrey Briand-Suleau , Audrey Coustier , Théodora Maillard , Cécile Barbance , Fanny Morice-Picard , Sabine Sigaudy , Olga O Glazunova , Lena Damaj , Valérie Layet , Chloé Quelin , Brigitte Gilbert-Dussardier , Frédérique Audic , Hélène Dollfus , Anne-Marie Guerrot , James Lespinasse , Sophie Julia , Marie-Christine Vantyghem , Magali Drouard , Marilyn Lackmy , Bruno Leheup , Yves Alembik , Alexia Lemaire , Patrick Nitschké , Florence Petit , Anne Dieux Coeslier , Eugénie Mutez , Alain Taieb , Mélanie Fradin , Yline Capri , Hala Nasser , Lyse Ruaud , Benjamin Dauriat , Sylvie Bourthoumieu , David Geneviève , Séverine Audebert-Bellanger , Mathilde Nizon , Radka Stoeva , Geoffroy Hickman , Gaël Nicolas , Juliette Mazereeuw-Hautier , Arnaud Jannic , Salah Ferkal , Béatrice Parfait , Michel Vidaud , Members Of The Nf France Network , Pierre Wolkenstein , Eric Pasmant

Post-zygotic mosaicism of SMARCB1 variants in patients with rhabdoid tumors: a not so rare condition exposing to successive tumors.

Neuro-oncology

Avec: Grégory Thomson , Mathilde Filser , Léa Guerrini-Rousseau , Arnault Tauziede-Espariat , Christine Bourneix , Marion Gauthier-Villars , Fatoumata Simaga , Kévin Beccaria , Cécile Faure-Conter , Aurélien Maureille , Hélène Zattara-Cannoni , Nicolas Andre , Natacha Entz-Werle , Laurence Brugieres , Ludovic Mansuy , Philippe Denizeau , Sophie Julia , Olivier Ingster , Sophie Lejeune , Afane Brahimi , Isabelle Coupier , Valérie Bonadona , Olivier Delattre , Julien Masliah-Planchon , Franck Bourdeaut

Journal international de bioethique et d'ethique des sciences

Avec: Myriam Guedj , Marion Rosier , Patrick Calvas , Sophie Julia , Christelle Garnier , Anne Cambon-Thomsen , Maria Teresa Munoz Sastre

Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports.

Journal of neuroendocrinology

Avec: Thi Thom Mac , Frederic Castinetti , Céline Bar , Sophie Julia , Marlene Pasquet , Pauline Romanet , Alexandru Saveanu , Gregory Mougel , Teddy Fauquier , Nicolas Jullien , Anne Barlier , Rachel Reynaud , Thierry Brue

Réseau de co-auteurs

Yline Capri 2 collaborations

James Lespinasse 2 collaborations

Sarah Baer 1 collaboration

Cathy Obringer 1 collaboration

Jameleddine Chelly 1 collaboration

Domitille Gras 1 collaboration

Geneviève Baujat 1 collaboration

Têmis Maria Felix 1 collaboration

Berenice Doray 1 collaboration

Jaime Sanchez Del Pozo 1 collaboration

Lina M Ramos 1 collaboration

Lydie Burglen 1 collaboration

Vincent Laugel 1 collaboration

Nadège Calmels 1 collaboration

Ilaria Parenti 1 collaboration

Elsa Leitão 1 collaboration

Alma Kuechler 1 collaboration

Laurent Villard 1 collaboration

Cyril Goizet 1 collaboration

Cécile Courdier 1 collaboration

Allan Bayat 1 collaboration

Alessandra Rossi 1 collaboration

Ange-Line Bruel 1 collaboration

Frédéric Tran Mau-Them 1 collaboration

Sophie Nambot 1 collaboration

Daphné Lehalle 1 collaboration

Marjolaine Willems 1 collaboration

Jamal Ghoumid 1 collaboration

Roseline Caumes 1 collaboration

Thomas Smol 1 collaboration

Salima El Chehadeh 1 collaboration

Elise Schaefer 1 collaboration

Marie-Thérèse Abi-Warde 1 collaboration

Boris Keren 1 collaboration

Alexandra Afenjar 1 collaboration

Anne-Claude Tabet 1 collaboration

Jonathan Levy 1 collaboration

Anna Maruani 1 collaboration

Ángel Aledo-Serrano 1 collaboration

Waltraud Garming 1 collaboration

Clara Milleret-Pignot 1 collaboration

Anna Chassevent 1 collaboration

Marije Koopmans 1 collaboration

Nienke E Verbeek 1 collaboration

Richard Person 1 collaboration

Rebecca Belles 1 collaboration

Gary Bellus 1 collaboration

Bonnie A Salbert 1 collaboration

Frank J Kaiser 1 collaboration

Laure Mazzola 1 collaboration

Philippe Convers 1 collaboration

Laurine Perrin 1 collaboration

Amélie Piton 1 collaboration

Gert Wiegand 1 collaboration

Andrea Accogli 1 collaboration

Francesco Brancati 1 collaboration

Fabio Benfenati 1 collaboration

Nicolas Chatron 1 collaboration

David Lewis-Smith 1 collaboration

Rhys H Thomas 1 collaboration

Federico Zara 1 collaboration

Pasquale Striano 1 collaboration

Gaetan Lesca 1 collaboration

Christel Depienne 1 collaboration

Víctor Faundes 1 collaboration

Stephanie Goh 1 collaboration

Rhoda Akilapa 1 collaboration

Heidre Bezuidenhout 1 collaboration

Hans T Bjornsson 1 collaboration

Lisa Bradley 1 collaboration

Angela F Brady 1 collaboration

Elise Brischoux-Boucher 1 collaboration

Han Brunner 1 collaboration

Saskia Bulk 1 collaboration

Natalie Canham 1 collaboration

Declan Cody 1 collaboration

Maria Lisa Dentici 1 collaboration

Maria Cristina Digilio 1 collaboration

Frances Elmslie 1 collaboration

Andrew E Fry 1 collaboration

Harinder Gill 1 collaboration

Jane Hurst 1 collaboration

Diana Johnson 1 collaboration

Katherine Lachlan 1 collaboration

Robert Roger Lebel 1 collaboration

Melissa Byler 1 collaboration

Eric Gershon 1 collaboration

Edmond Lemire 1 collaboration

Maria Gnazzo 1 collaboration

Francesca Romana Lepri 1 collaboration

Antonia Marchese 1 collaboration

Meriel McEntagart 1 collaboration

Julie McGaughran 1 collaboration

Seiji Mizuno 1 collaboration

Nobuhiko Okamoto 1 collaboration

Claudine Rieubland 1 collaboration

Jonathan Rodgers 1 collaboration

Erina Sasaki 1 collaboration

Emmanuel Scalais 1 collaboration

Ingrid Scurr 1 collaboration

Mohnish Suri 1 collaboration

Ineke van der Burgt 1 collaboration

Naomichi Matsumoto 1 collaboration

Noriko Miyake 1 collaboration

Valérie Benoit 1 collaboration

Damien Lederer 1 collaboration

Siddharth Banka 1 collaboration

Laurence Pacot 1 collaboration

Dominique Vidaud 1 collaboration

Audrey Sabbagh 1 collaboration

Ingrid Laurendeau 1 collaboration

Audrey Briand-Suleau 1 collaboration

Audrey Coustier 1 collaboration

Théodora Maillard 1 collaboration

Cécile Barbance 1 collaboration

Fanny Morice-Picard 1 collaboration

Sabine Sigaudy 1 collaboration

Olga O Glazunova 1 collaboration

Lena Damaj 1 collaboration

Valérie Layet 1 collaboration

Chloé Quelin 1 collaboration

Brigitte Gilbert-Dussardier 1 collaboration

Frédérique Audic 1 collaboration

Hélène Dollfus 1 collaboration

Anne-Marie Guerrot 1 collaboration

Marie-Christine Vantyghem 1 collaboration

Magali Drouard 1 collaboration

Marilyn Lackmy 1 collaboration

Bruno Leheup 1 collaboration

Yves Alembik 1 collaboration

Alexia Lemaire 1 collaboration

Patrick Nitschké 1 collaboration

Florence Petit 1 collaboration

Anne Dieux Coeslier 1 collaboration

Eugénie Mutez 1 collaboration

Alain Taieb 1 collaboration

Mélanie Fradin 1 collaboration

Hala Nasser 1 collaboration

Lyse Ruaud 1 collaboration

Benjamin Dauriat 1 collaboration

Sylvie Bourthoumieu 1 collaboration

David Geneviève 1 collaboration

Séverine Audebert-Bellanger 1 collaboration

Mathilde Nizon 1 collaboration

Radka Stoeva 1 collaboration

Geoffroy Hickman 1 collaboration

Gaël Nicolas 1 collaboration

Juliette Mazereeuw-Hautier 1 collaboration

Arnaud Jannic 1 collaboration

Salah Ferkal 1 collaboration

Béatrice Parfait 1 collaboration

Michel Vidaud 1 collaboration

None Members Of The Nf France Network 1 collaboration

Pierre Wolkenstein 1 collaboration

Eric Pasmant 1 collaboration

Grégory Thomson 1 collaboration

Mathilde Filser 1 collaboration

Léa Guerrini-Rousseau 1 collaboration

Arnault Tauziede-Espariat 1 collaboration

Christine Bourneix 1 collaboration

Marion Gauthier-Villars 1 collaboration

Fatoumata Simaga 1 collaboration

Kévin Beccaria 1 collaboration

Cécile Faure-Conter 1 collaboration

Aurélien Maureille 1 collaboration

Hélène Zattara-Cannoni 1 collaboration

Nicolas Andre 1 collaboration

Natacha Entz-Werle 1 collaboration

Laurence Brugieres 1 collaboration

Ludovic Mansuy 1 collaboration

Philippe Denizeau 1 collaboration

Olivier Ingster 1 collaboration

Sophie Lejeune 1 collaboration

Afane Brahimi 1 collaboration

Isabelle Coupier 1 collaboration

Valérie Bonadona 1 collaboration

Olivier Delattre 1 collaboration

Julien Masliah-Planchon 1 collaboration

Franck Bourdeaut 1 collaboration

Myriam Guedj 1 collaboration

Marion Rosier 1 collaboration

Patrick Calvas 1 collaboration

Christelle Garnier 1 collaboration

Anne Cambon-Thomsen 1 collaboration

Maria Teresa Munoz Sastre 1 collaboration

Thi Thom Mac 1 collaboration

Frederic Castinetti 1 collaboration

Céline Bar 1 collaboration

Marlene Pasquet 1 collaboration

Pauline Romanet 1 collaboration

Alexandru Saveanu 1 collaboration

Gregory Mougel 1 collaboration

Teddy Fauquier 1 collaboration

Nicolas Jullien 1 collaboration

Anne Barlier 1 collaboration

Rachel Reynaud 1 collaboration

Thierry Brue 1 collaboration