Isabelle Sabatier

Affiliations

Department of Pediatric Neurology, Women Mother and Children Hospital, Lyon University Hospitals, Lyon, France.

Publications (4)

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.

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

Avec: Erin Torti , Boris Keren , Elizabeth E Palmer , Zehua Zhu , Alexandra Afenjar , Ilse J Anderson , Marisa V Andrews , Celia Atkinson , Margaret Au , Susan A Berry , Kevin M Bowling , Jackie Boyle , Julien Buratti , Sara S Cathey , Perrine Charles , Benjamin Cogne , Thomas Courtin , Luis F Escobar , Sabra Ledare Finley , John M Graham , Dorothy K Grange , Delphine Heron , Stacy Hewson , Susan M Hiatt , Kathleen A Hibbs , Parul Jayakar , Louisa Kalsner , Lise Larcher , Gaetan Lesca , Paul R Mark , Kathryn Miller , Caroline Nava , Mathilde Nizon , G Shashidhar Pai , John Pappas , Gretchen Parsons , Katelyn Payne , Audrey Putoux , Rachel Rabin , Isabelle Sabatier , Marwan Shinawi , Natasha Shur , Steven A Skinner , Stephanie Valence , Hannah Warren , Sandra Whalen , Amy Crunk , Ganka Douglas , Kristin G Monaghan , Richard E Person , Rebecca Willaert , Benjamin D Solomon , Jane Juusola

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).

European journal of medical genetics

Avec: Gabriella Vera , Arthur Sorlin , Geoffroy Delplancq , François Lecoquierre , Marie Brasseur-Daudruy , Florence Petit , Thomas Smol , Alban Ziegler , Dominique Bonneau , Estelle Colin , Sandra Mercier , Benjamin Cogné , Stéphane Bézieau , Patrick Edery , Gaetan Lesca , Nicolas Chatron , Isabelle Sabatier , Bénédicte Duban-Bedu , Cindy Colson , Amélie Piton , Benjamin Durand , Yline Capri , Laurence Perrin , Antje Wiesener , Christiane Zweier , Reza Maroofian , Christopher J Carroll , Hamid Galehdari , Neda Mazaheri , Bert Callewaert , Fabienne Giulianno , Khaoula Zaafrane-Khachnaoui , Rebecca Buchert-Lo , Tobias Haack , Janine Magg , Angelika Rieß , Maria Blandfort , Stephan Waldmüller , Veronka Horber , Emanuela Leonardi , Roberta Polli , Licia Turolla , Alessandra Murgia , Thierry Frebourg , Anne Sophie Lebre , Gaël Nicolas , Pascale Saugier-Veber , Anne-Marie Guerrot

Isolated Antenatal Hydrocephalus After Fetal Exposure to Misoprostol: Teratogenic Effect of the Cytotec?

World neurosurgery

Avec: Pierre-Aurelien Beuriat , Lucile Cattiaux , Laurent Guibaud , Alexandru Szathmari , Isabelle Sabatier , Christophe Rousselle , Carmine Mottolese , Federico Di Rocco

Multisystem disorders, severe developmental delay and seizures in two affected siblings, expanding the phenotype of PIGC deficiency.

European journal of medical genetics

Avec: Linda Pons , Isabelle Sabatier , Eudeline Alix , Marie Faoucher , Audrey Labalme , Damien Sanlaville , Gaetan Lesca

Réseau de co-auteurs

Gaetan Lesca 3 collaborations

Erin Torti 1 collaboration

Boris Keren 1 collaboration

Elizabeth E Palmer 1 collaboration

Zehua Zhu 1 collaboration

Alexandra Afenjar 1 collaboration

Ilse J Anderson 1 collaboration

Marisa V Andrews 1 collaboration

Celia Atkinson 1 collaboration

Margaret Au 1 collaboration

Susan A Berry 1 collaboration

Kevin M Bowling 1 collaboration

Jackie Boyle 1 collaboration

Julien Buratti 1 collaboration

Sara S Cathey 1 collaboration

Perrine Charles 1 collaboration

Benjamin Cogne 1 collaboration

Thomas Courtin 1 collaboration

Luis F Escobar 1 collaboration

Sabra Ledare Finley 1 collaboration

John M Graham 1 collaboration

Dorothy K Grange 1 collaboration

Delphine Heron 1 collaboration

Stacy Hewson 1 collaboration

Susan M Hiatt 1 collaboration

Kathleen A Hibbs 1 collaboration

Parul Jayakar 1 collaboration

Louisa Kalsner 1 collaboration

Lise Larcher 1 collaboration

Paul R Mark 1 collaboration

Kathryn Miller 1 collaboration

Caroline Nava 1 collaboration

Mathilde Nizon 1 collaboration

G Shashidhar Pai 1 collaboration

John Pappas 1 collaboration

Gretchen Parsons 1 collaboration

Katelyn Payne 1 collaboration

Audrey Putoux 1 collaboration

Rachel Rabin 1 collaboration

Marwan Shinawi 1 collaboration

Natasha Shur 1 collaboration

Steven A Skinner 1 collaboration

Stephanie Valence 1 collaboration

Hannah Warren 1 collaboration

Sandra Whalen 1 collaboration

Amy Crunk 1 collaboration

Ganka Douglas 1 collaboration

Kristin G Monaghan 1 collaboration

Richard E Person 1 collaboration

Rebecca Willaert 1 collaboration

Benjamin D Solomon 1 collaboration

Jane Juusola 1 collaboration

Gabriella Vera 1 collaboration

Arthur Sorlin 1 collaboration

Geoffroy Delplancq 1 collaboration

François Lecoquierre 1 collaboration

Marie Brasseur-Daudruy 1 collaboration

Florence Petit 1 collaboration

Thomas Smol 1 collaboration

Alban Ziegler 1 collaboration

Dominique Bonneau 1 collaboration

Estelle Colin 1 collaboration

Sandra Mercier 1 collaboration

Benjamin Cogné 1 collaboration

Stéphane Bézieau 1 collaboration

Patrick Edery 1 collaboration

Nicolas Chatron 1 collaboration

Bénédicte Duban-Bedu 1 collaboration

Cindy Colson 1 collaboration

Amélie Piton 1 collaboration

Benjamin Durand 1 collaboration

Yline Capri 1 collaboration

Laurence Perrin 1 collaboration

Antje Wiesener 1 collaboration

Christiane Zweier 1 collaboration

Reza Maroofian 1 collaboration

Christopher J Carroll 1 collaboration

Hamid Galehdari 1 collaboration

Neda Mazaheri 1 collaboration

Bert Callewaert 1 collaboration

Fabienne Giulianno 1 collaboration

Khaoula Zaafrane-Khachnaoui 1 collaboration

Rebecca Buchert-Lo 1 collaboration

Tobias Haack 1 collaboration

Janine Magg 1 collaboration

Angelika Rieß 1 collaboration

Maria Blandfort 1 collaboration

Stephan Waldmüller 1 collaboration

Veronka Horber 1 collaboration

Emanuela Leonardi 1 collaboration

Roberta Polli 1 collaboration

Licia Turolla 1 collaboration

Alessandra Murgia 1 collaboration

Thierry Frebourg 1 collaboration

Anne Sophie Lebre 1 collaboration

Gaël Nicolas 1 collaboration

Pascale Saugier-Veber 1 collaboration

Anne-Marie Guerrot 1 collaboration

Pierre-Aurelien Beuriat 1 collaboration

Lucile Cattiaux 1 collaboration

Laurent Guibaud 1 collaboration

Alexandru Szathmari 1 collaboration

Christophe Rousselle 1 collaboration

Carmine Mottolese 1 collaboration

Federico Di Rocco 1 collaboration

Linda Pons 1 collaboration

Eudeline Alix 1 collaboration

Marie Faoucher 1 collaboration

Audrey Labalme 1 collaboration

Damien Sanlaville 1 collaboration