Constance T Stumpel

Affiliations

Department of Genetics, University of Bourgogne-Franche Comté, Dijon, France.

Publications (4)

PIGN encephalopathy: Characterizing the epileptology.

Epilepsia

Avec: Allan Bayat , Guillem de Valles-Ibáñez , Manuela Pendziwiat , Alexej Knaus , Kerstin Alt , Elisa Biamino , Annette Bley , Sophie Calvert , Patrick Carney , Alfonso Caro-Llopis , Berten Ceulemans , Janice Cousin , Suzanne Davis , Vincent des Portes , Patrick Edery , Eleina England , Carlos Ferreira , Jeremy Freeman , Blanca Gener , Magali Gorce , Delphine Heron , Michael S Hildebrand , Aleksandra Jezela-Stanek , Pierre-Simon Jouk , Boris Keren , Katja Kloth , Gerhard Kluger , Marius Kuhn , Johannes R Lemke , Hong Li , Francisco Martinez , Caroline Maxton , Heather C Mefford , Giuseppe Merla , Hanna Mierzewska , Alison Muir , Sandra Monfort , Joost Nicolai , Jennifer Norman , Gina O'Grady , Barbara Oleksy , Carmen Orellana , Laura Elena Orec , Charlotte Peinhardt , Ewa Pronicka , Monica Rosello , Fernando Santos-Simarro , Eva Maria Christina Schwaibold , Alexander P A Stegmann , Constance T Stumpel , Elzbieta Szczepanik , Iwona Terczyńska , Julien Thevenon , Andreas Tzschach , Patrick Van Bogaert , Roberta Vittorini , Sonja Walsh , Sarah Weckhuysen , Barbara Weissman , Lynne Wolfe , Alexandre Reymond , Pasquelena De Nittis , Annapurna Poduri , Heather Olson , Pasquale Striano , Gaetan Lesca , Ingrid E Scheffer , Rikke S Møller , Lynette G Sadleir

Kabuki syndrome: international consensus diagnostic criteria.

Journal of medical genetics

Avec: Margaret P Adam , Siddharth Banka , Hans T Bjornsson , Olaf Bodamer , Albert E Chudley , Jaqueline Harris , Hiroshi Kawame , Brendan C Lanpher , Andrew W Lindsley , Giuseppe Merla , Noriko Miyake , Nobuhiko Okamoto , Constanze T Stumpel , Norio Niikawa , Auteur inconnu

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.

Journal of medical genetics

Avec: Francesca Peluso , Stefano G Caraffi , Gianluca Contrò , Lara Valeri , Manuela Napoli , Giorgia Carboni , Alka Seth , Roberta Zuntini , Emanuele Coccia , Guja Astrea , Anne-Marie Bisgaard , Ivan Ivanovski , Silvia Maitz , Elise Brischoux-Boucher , Melissa T Carter , Maria Lisa Dentici , Koenraad Devriendt , Melissa Bellini , Maria Cristina Digilio , Asif Doja , David A Dyment , Stense Farholt , Carlos R Ferreira , Lynne A Wolfe , William A Gahl , Maria Gnazzo , Himanshu Goel , Sabine Weller Grønborg , Trine Hammer , Lorenzo Iughetti , Tjitske Kleefstra , David A Koolen , Francesca Romana Lepri , Gabrielle Lemire , Pedro Louro , Gary McCullagh , Simona F Madeo , Annarita Milone , Roberta Milone , Jens Erik Klint Nielsen , Antonio Novelli , Charlotte W Ockeloen , Rosario Pascarella , Tommaso Pippucci , Ivana Ricca , Stephen P Robertson , Sarah Sawyer , Marie Falkenberg Smeland , Sander Stegmann , Constanze T Stumpel , Amy Goel , Juliet M Taylor , Domenico Barbuti , Annarosa Soresina , Maria Francesca Bedeschi , Roberta Battini , Anna Cavalli , Carlo Fusco , Maria Iascone , Lionel Van Maldergem , Sunita Venkateswaran , Orsetta Zuffardi , Samantha Vergano , Livia Garavelli , Allan Bayat

Pathogenic variants in

Journal of medical genetics

Avec: Jorge Luis Granadillo , Alexander P A Stegmann , Hui Guo , Kun Xia , Brad Angle , Kelly Bontempo , Judith D Ranells , Patricia Newkirk , Carrie Costin , Joleen Viront , Constanze T Stumpel , Margje Sinnema , Bianca Panis , Rolph Pfundt , Ingrid P C Krapels , Merel Klaassens , Joost Nicolai , Jinliang Li , Yuwu Jiang , Elysa Marco , Ana Canton , Ana Claudia Latronico , Luciana Montenegro , Bruno Leheup , Celine Bonnet , Shivarajan M Amudhavalli , Caitlin E Lawson , Kirsty McWalter , Aida Telegrafi , Richard Pearson , Malin Kvarnung , Xia Wang , Weimin Bi , Jill Anne Rosenfeld , Marwan Shinawi

Réseau de co-auteurs

Constanze T Stumpel 3 collaborations

Allan Bayat 2 collaborations

Giuseppe Merla 2 collaborations

Joost Nicolai 2 collaborations

Alexander P A Stegmann 2 collaborations

Guillem de Valles-Ibáñez 1 collaboration

Manuela Pendziwiat 1 collaboration

Alexej Knaus 1 collaboration

Kerstin Alt 1 collaboration

Elisa Biamino 1 collaboration

Annette Bley 1 collaboration

Sophie Calvert 1 collaboration

Patrick Carney 1 collaboration

Alfonso Caro-Llopis 1 collaboration

Berten Ceulemans 1 collaboration

Janice Cousin 1 collaboration

Suzanne Davis 1 collaboration

Vincent des Portes 1 collaboration

Patrick Edery 1 collaboration

Eleina England 1 collaboration

Carlos Ferreira 1 collaboration

Jeremy Freeman 1 collaboration

Blanca Gener 1 collaboration

Magali Gorce 1 collaboration

Delphine Heron 1 collaboration

Michael S Hildebrand 1 collaboration

Aleksandra Jezela-Stanek 1 collaboration

Pierre-Simon Jouk 1 collaboration

Boris Keren 1 collaboration

Katja Kloth 1 collaboration

Gerhard Kluger 1 collaboration

Marius Kuhn 1 collaboration

Johannes R Lemke 1 collaboration

Hong Li 1 collaboration

Francisco Martinez 1 collaboration

Caroline Maxton 1 collaboration

Heather C Mefford 1 collaboration

Hanna Mierzewska 1 collaboration

Alison Muir 1 collaboration

Sandra Monfort 1 collaboration

Jennifer Norman 1 collaboration

Gina O'Grady 1 collaboration

Barbara Oleksy 1 collaboration

Carmen Orellana 1 collaboration

Laura Elena Orec 1 collaboration

Charlotte Peinhardt 1 collaboration

Ewa Pronicka 1 collaboration

Monica Rosello 1 collaboration

Fernando Santos-Simarro 1 collaboration

Eva Maria Christina Schwaibold 1 collaboration

Elzbieta Szczepanik 1 collaboration

Iwona Terczyńska 1 collaboration

Julien Thevenon 1 collaboration

Andreas Tzschach 1 collaboration

Patrick Van Bogaert 1 collaboration

Roberta Vittorini 1 collaboration

Sonja Walsh 1 collaboration

Sarah Weckhuysen 1 collaboration

Barbara Weissman 1 collaboration

Lynne Wolfe 1 collaboration

Alexandre Reymond 1 collaboration

Pasquelena De Nittis 1 collaboration

Annapurna Poduri 1 collaboration

Heather Olson 1 collaboration

Pasquale Striano 1 collaboration

Gaetan Lesca 1 collaboration

Ingrid E Scheffer 1 collaboration

Rikke S Møller 1 collaboration

Lynette G Sadleir 1 collaboration

Margaret P Adam 1 collaboration

Siddharth Banka 1 collaboration

Hans T Bjornsson 1 collaboration

Olaf Bodamer 1 collaboration

Albert E Chudley 1 collaboration

Jaqueline Harris 1 collaboration

Hiroshi Kawame 1 collaboration

Brendan C Lanpher 1 collaboration

Andrew W Lindsley 1 collaboration

Noriko Miyake 1 collaboration

Nobuhiko Okamoto 1 collaboration

Norio Niikawa 1 collaboration

None None 1 collaboration

Francesca Peluso 1 collaboration

Stefano G Caraffi 1 collaboration

Gianluca Contrò 1 collaboration

Lara Valeri 1 collaboration

Manuela Napoli 1 collaboration

Giorgia Carboni 1 collaboration

Alka Seth 1 collaboration

Roberta Zuntini 1 collaboration

Emanuele Coccia 1 collaboration

Guja Astrea 1 collaboration

Anne-Marie Bisgaard 1 collaboration

Ivan Ivanovski 1 collaboration

Silvia Maitz 1 collaboration

Elise Brischoux-Boucher 1 collaboration

Melissa T Carter 1 collaboration

Maria Lisa Dentici 1 collaboration

Koenraad Devriendt 1 collaboration

Melissa Bellini 1 collaboration

Maria Cristina Digilio 1 collaboration

Asif Doja 1 collaboration

David A Dyment 1 collaboration

Stense Farholt 1 collaboration

Carlos R Ferreira 1 collaboration

Lynne A Wolfe 1 collaboration

William A Gahl 1 collaboration

Maria Gnazzo 1 collaboration

Himanshu Goel 1 collaboration

Sabine Weller Grønborg 1 collaboration

Trine Hammer 1 collaboration

Lorenzo Iughetti 1 collaboration

Tjitske Kleefstra 1 collaboration

David A Koolen 1 collaboration

Francesca Romana Lepri 1 collaboration

Gabrielle Lemire 1 collaboration

Pedro Louro 1 collaboration

Gary McCullagh 1 collaboration

Simona F Madeo 1 collaboration

Annarita Milone 1 collaboration

Roberta Milone 1 collaboration

Jens Erik Klint Nielsen 1 collaboration

Antonio Novelli 1 collaboration

Charlotte W Ockeloen 1 collaboration

Rosario Pascarella 1 collaboration

Tommaso Pippucci 1 collaboration

Ivana Ricca 1 collaboration

Stephen P Robertson 1 collaboration

Sarah Sawyer 1 collaboration

Marie Falkenberg Smeland 1 collaboration

Sander Stegmann 1 collaboration

Amy Goel 1 collaboration

Juliet M Taylor 1 collaboration

Domenico Barbuti 1 collaboration

Annarosa Soresina 1 collaboration

Maria Francesca Bedeschi 1 collaboration

Roberta Battini 1 collaboration

Anna Cavalli 1 collaboration

Carlo Fusco 1 collaboration

Maria Iascone 1 collaboration

Lionel Van Maldergem 1 collaboration

Sunita Venkateswaran 1 collaboration

Orsetta Zuffardi 1 collaboration

Samantha Vergano 1 collaboration

Livia Garavelli 1 collaboration

Jorge Luis Granadillo 1 collaboration

Hui Guo 1 collaboration

Kun Xia 1 collaboration

Brad Angle 1 collaboration

Kelly Bontempo 1 collaboration

Judith D Ranells 1 collaboration

Patricia Newkirk 1 collaboration

Carrie Costin 1 collaboration

Joleen Viront 1 collaboration

Margje Sinnema 1 collaboration

Bianca Panis 1 collaboration

Rolph Pfundt 1 collaboration

Ingrid P C Krapels 1 collaboration

Merel Klaassens 1 collaboration

Jinliang Li 1 collaboration

Yuwu Jiang 1 collaboration

Elysa Marco 1 collaboration

Ana Canton 1 collaboration

Ana Claudia Latronico 1 collaboration

Luciana Montenegro 1 collaboration

Bruno Leheup 1 collaboration

Celine Bonnet 1 collaboration

Shivarajan M Amudhavalli 1 collaboration

Caitlin E Lawson 1 collaboration

Kirsty McWalter 1 collaboration

Aida Telegrafi 1 collaboration

Richard Pearson 1 collaboration

Malin Kvarnung 1 collaboration

Xia Wang 1 collaboration

Weimin Bi 1 collaboration

Jill Anne Rosenfeld 1 collaboration

Marwan Shinawi 1 collaboration