E Leon

Publications (6)

Evidence of GMPPA founder mutation in indigenous Guatemalan population associated with alacrima, achalasia, and mental retardation syndrome.

American journal of medical genetics. Part A

Avec: Jullianne Diaz , Timothy D Kane , Eyby Leon

Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.

American journal of human genetics

Avec: Charlotte L Alston , Mike T Veling , Juliana Heidler , Lucie S Taylor , Joseph T Alaimo , Andrew Y Sung , Langping He , Sila Hopton , Alexander Broomfield , Julija Pavaine , Jullianne Diaz , Eyby Leon , Philipp Wolf , Robert McFarland , Holger Prokisch , Saskia B Wortmann , Penelope E Bonnen , Ilka Wittig , David J Pagliarini , Robert W Taylor

MAP1B related syndrome: Case presentation and review of literature.

American journal of medical genetics. Part A

Avec: Diana M Julca , Jullianne Diaz , Seth Berger , Eyby Leon

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.

Human mutation

Avec: Hanyin Cheng , Simona Capponi , Emma Wakeling , Elaine Marchi , Quan Li , Mengge Zhao , Chunhua Weng , Piatek G Stefan , Helena Ahlfors , Robert Kleyner , Alan Rope , Aimé Lumaka , Prosper Lukusa , Koenraad Devriendt , Joris Vermeesch , Jennifer E Posey , Elizabeth E Palmer , Lucinda Murray , Eyby Leon , Jullianne Diaz , Lisa Worgan , Amalia Mallawaarachchi , Julie Vogt , Sonja A de Munnik , Lauren Dreyer , Gareth Baynam , Lisa Ewans , Zornitza Stark , Sebastian Lunke , Ana R Gonçalves , Gabriela Soares , Jorge Oliveira , Emily Fassi , Marcia Willing , Jeff L Waugh , Laurence Faivre , Jean-Baptiste Riviere , Sebastien Moutton , Shehla Mohammed , Katelyn Payne , Laurence Walsh , Amber Begtrup , Maria J Guillen Sacoto , Ganka Douglas , Nora Alexander , Michael F Buckley , Paul R Mark , Lesley C Adès , Sarah A Sandaradura , James R Lupski , Tony Roscioli , Pankaj B Agrawal , Antonie D Kline , Auteur inconnu , Kai Wang , H T Marc Timmers , Gholson J Lyon

Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studies.

American journal of medical genetics. Part A

Avec: Eyby Leon , Jullianne Diaz , Laura Castilla-Vallmanya , Daniel Grinberg , Susanna Balcells , Roser Urreizti

Fibrin gel enhances the antitumor effects of chimeric antigen receptor T cells in glioblastoma.

Science advances

Avec: Edikan A Ogunnaike , Alain Valdivia , Mostafa Yazdimamaghani , Ernesto Leon , Seema Nandi , Hannah Hudson , Hongwei Du , Simon Khagi , Zhen Gu , Barbara Savoldo , Frances S Ligler , Shawn Hingtgen , Gianpietro Dotti

Réseau de co-auteurs

Jullianne Diaz 5 collaborations

Eyby Leon 5 collaborations

Timothy D Kane 1 collaboration

Charlotte L Alston 1 collaboration

Mike T Veling 1 collaboration

Juliana Heidler 1 collaboration

Lucie S Taylor 1 collaboration

Joseph T Alaimo 1 collaboration

Andrew Y Sung 1 collaboration

Langping He 1 collaboration

Sila Hopton 1 collaboration

Alexander Broomfield 1 collaboration

Julija Pavaine 1 collaboration

Philipp Wolf 1 collaboration

Robert McFarland 1 collaboration

Holger Prokisch 1 collaboration

Saskia B Wortmann 1 collaboration

Penelope E Bonnen 1 collaboration

Ilka Wittig 1 collaboration

David J Pagliarini 1 collaboration

Robert W Taylor 1 collaboration

Diana M Julca 1 collaboration

Seth Berger 1 collaboration

Hanyin Cheng 1 collaboration

Simona Capponi 1 collaboration

Emma Wakeling 1 collaboration

Elaine Marchi 1 collaboration

Quan Li 1 collaboration

Mengge Zhao 1 collaboration

Chunhua Weng 1 collaboration

Piatek G Stefan 1 collaboration

Helena Ahlfors 1 collaboration

Robert Kleyner 1 collaboration

Alan Rope 1 collaboration

Aimé Lumaka 1 collaboration

Prosper Lukusa 1 collaboration

Koenraad Devriendt 1 collaboration

Joris Vermeesch 1 collaboration

Jennifer E Posey 1 collaboration

Elizabeth E Palmer 1 collaboration

Lucinda Murray 1 collaboration

Lisa Worgan 1 collaboration

Amalia Mallawaarachchi 1 collaboration

Julie Vogt 1 collaboration

Sonja A de Munnik 1 collaboration

Lauren Dreyer 1 collaboration

Gareth Baynam 1 collaboration

Lisa Ewans 1 collaboration

Zornitza Stark 1 collaboration

Sebastian Lunke 1 collaboration

Ana R Gonçalves 1 collaboration

Gabriela Soares 1 collaboration

Jorge Oliveira 1 collaboration

Emily Fassi 1 collaboration

Marcia Willing 1 collaboration

Jeff L Waugh 1 collaboration

Laurence Faivre 1 collaboration

Jean-Baptiste Riviere 1 collaboration

Sebastien Moutton 1 collaboration

Shehla Mohammed 1 collaboration

Katelyn Payne 1 collaboration

Laurence Walsh 1 collaboration

Amber Begtrup 1 collaboration

Maria J Guillen Sacoto 1 collaboration

Ganka Douglas 1 collaboration

Nora Alexander 1 collaboration

Michael F Buckley 1 collaboration

Paul R Mark 1 collaboration

Lesley C Adès 1 collaboration

Sarah A Sandaradura 1 collaboration

James R Lupski 1 collaboration

Tony Roscioli 1 collaboration

Pankaj B Agrawal 1 collaboration

Antonie D Kline 1 collaboration

None None 1 collaboration

Kai Wang 1 collaboration

H T Marc Timmers 1 collaboration

Gholson J Lyon 1 collaboration

Laura Castilla-Vallmanya 1 collaboration

Daniel Grinberg 1 collaboration

Susanna Balcells 1 collaboration

Roser Urreizti 1 collaboration

Edikan A Ogunnaike 1 collaboration

Alain Valdivia 1 collaboration

Mostafa Yazdimamaghani 1 collaboration

Ernesto Leon 1 collaboration

Seema Nandi 1 collaboration

Hannah Hudson 1 collaboration

Hongwei Du 1 collaboration

Simon Khagi 1 collaboration

Zhen Gu 1 collaboration

Barbara Savoldo 1 collaboration

Frances S Ligler 1 collaboration

Shawn Hingtgen 1 collaboration

Gianpietro Dotti 1 collaboration