Agustí Rodríguez-Palmero

Aurora Pujol 12 collaborations

Agatha Schlüter 9 collaborations

Edgard Verdura 8 collaborations

Montserrat Ruiz 8 collaborations

Laura Planas-Serra 7 collaborations

Carlos Casasnovas 6 collaborations

Stéphane Fourcade 4 collaborations

Sergio Aguilera-Albesa 4 collaborations

Juan José Martínez 3 collaborations

None None 3 collaborations

Nathalie Launay 3 collaborations

Cristina Guilera 3 collaborations

Mireia Del Toro 3 collaborations

Alfons Macaya 3 collaborations

David Gómez-Andrés 2 collaborations

Anne-Sophie Denommé-Pichon 2 collaborations

Thomas J Dye 2 collaborations

Juliane Hoyer 2 collaborations

Anna C E Hurst 2 collaborations

Kathleen A Leppig 2 collaborations

Lotte Kleinendorst 2 collaborations

Giorgia Mandrile 2 collaborations

Melanie O'Leary 2 collaborations

Anya Revah-Politi 2 collaborations

Mieke M van Haelst 2 collaborations

Zeynep Tümer 2 collaborations

Valentina Vélez-Santamaría 2 collaborations

Mónica Troncoso 2 collaborations

Luis G Gutiérrez-Solana 2 collaborations

Luis A Pérez-Jurado 2 collaborations

Adolfo López de Munain 2 collaborations

Veronica Davalos 2 collaborations

Juan Valencia-Ramos 2 collaborations

Roger Colobran 2 collaborations

Manel Esteller 2 collaborations

Maria Iascone 2 collaborations

Valentina Vélez-Santamaria 2 collaborations

Isabelle Gourlaouen 1 collaboration

Chandran Ka 1 collaboration

Ricardo Lobato 1 collaboration

Gérald Le Gac 1 collaboration

Melissa Maria Boerrigter 1 collaboration

Kimberly A Aldinger 1 collaboration

Íñigo Marcos-Alcalde 1 collaboration

Bernt Popp 1 collaboration

David B Everman 1 collaboration

Alysia Kern Lovgren 1 collaboration

Stephanie Arpin 1 collaboration

Vahid Bahrambeigi 1 collaboration

Gea Beunders 1 collaboration

Anne-Marie Bisgaard 1 collaboration

V A Bjerregaard 1 collaboration

Ange-Line Bruel 1 collaboration

Thomas D Challman 1 collaboration

Benjamin Cogné 1 collaboration

Christine Coubes 1 collaboration

Stella A de Man 1 collaboration

Frances Elmslie 1 collaboration

Lars Feuk 1 collaboration

Sixto García-Miñaúr 1 collaboration

Tracy Gertler 1 collaboration

Elisa Giorgio 1 collaboration

Nicolas Gruchy 1 collaboration

Tobias B Haack 1 collaboration

Chad R Haldeman-Englert 1 collaboration

Bjørn Ivar Haukanes 1 collaboration

Bertrand Isidor 1 collaboration

Maria Johansson Soller 1 collaboration

Sulagna Kushary 1 collaboration

Malin Kvarnung 1 collaboration

Yuval E Landau 1 collaboration

Anna Lindstrand 1 collaboration

Alex MacKenzie 1 collaboration

Bryce A Mendelsohn 1 collaboration

Setareh Moghadasi 1 collaboration

Jenny E Morton 1 collaboration

Sebastien Moutton 1 collaboration

Amelie J Müller 1 collaboration

Marta Pacio-Míguez 1 collaboration

Maria Palomares-Bralo 1 collaboration

Sumit Parikh 1 collaboration

Rolph Pfundt 1 collaboration

Ben Pode-Shakked 1 collaboration

Anita Rauch 1 collaboration

Elena Repnikova 1 collaboration

Meredith J Ross 1 collaboration

Claudia A L Ruivenkamp 1 collaboration

Elisabeth Sarrazin 1 collaboration

Juliann M Savatt 1 collaboration

Bitten Schönewolf-Greulich 1 collaboration

Zohra Shad 1 collaboration

Charles Shaw-Smith 1 collaboration

Joseph T Shieh 1 collaboration

Motti Shohat 1 collaboration

Stephanie Spranger 1 collaboration

Heidi Thiese 1 collaboration

Frederic Tran Mau-Them 1 collaboration

Bregje van Bon 1 collaboration

Ineke van de Burgt 1 collaboration

Ingrid M B H van de Laar 1 collaboration

Esmée van Drie 1 collaboration

Conny M van Ravenswaaij-Arts 1 collaboration

Antonio Vitobello 1 collaboration

Stephan Waldmüller 1 collaboration

Sharon Whiting 1 collaboration

Christiane Zweier 1 collaboration

Carlos E Prada 1 collaboration

Bert B A de Vries 1 collaboration

William B Dobyns 1 collaboration

Simone F Reiter 1 collaboration

Paulino Gómez-Puertas 1 collaboration

Inga Harting 1 collaboration

Murtadha Al-Saady 1 collaboration

Ingeborg Krägeloh-Mann 1 collaboration

Annette Bley 1 collaboration

Maja Hempel 1 collaboration

Tatjana Bierhals 1 collaboration

Stephanie Karch 1 collaboration

Ute Moog 1 collaboration

Geneviève Bernard 1 collaboration

Richard Huntsman 1 collaboration

Rosalina M L van Spaendonk 1 collaboration

Maaike Vreeburg 1 collaboration

Marjo S van der Knaap 1 collaboration

Petra J W Pouwels 1 collaboration

Nicole I Wolf 1 collaboration

Irit Hochberg 1 collaboration

Leigh A M Demain 1 collaboration

Julie Richer 1 collaboration

Kyle Thompson 1 collaboration

Jill E Urquhart 1 collaboration

Alessandro Rea 1 collaboration

Waheeda Pagarkar 1 collaboration

Pilar Quijada-Fraile 1 collaboration

Albert Amberger 1 collaboration

Andrea J Deutschmann 1 collaboration

Sandra Demetz 1 collaboration

Meredith Gillespie 1 collaboration

Inna A Belyantseva 1 collaboration

Hugh J McMillan 1 collaboration

Melanie Barzik 1 collaboration

Glenda M Beaman 1 collaboration

Reeya Motha 1 collaboration

Kah Ying Ng 1 collaboration

James O'Sullivan 1 collaboration

Simon G Williams 1 collaboration

Sanjeev S Bhaskar 1 collaboration

Isabella R Lawrence 1 collaboration

Emma M Jenkinson 1 collaboration

Jessica L Zambonin 1 collaboration

Zeev Blumenfeld 1 collaboration

Sergey Yalonetsky 1 collaboration

Stephanie Oerum 1 collaboration

Walter Rossmanith 1 collaboration

Wyatt W Yue 1 collaboration

Johannes Zschocke 1 collaboration

Kevin J Munro 1 collaboration

Brendan J Battersby 1 collaboration

Thomas B Friedman 1 collaboration

Robert W Taylor 1 collaboration

Raymond T O'Keefe 1 collaboration

William G Newman 1 collaboration

Alfonsina Ballester-Lopez 1 collaboration

Emma Koehorst 1 collaboration

Miriam Almendrote 1 collaboration

Alicia Martínez-Piñeiro 1 collaboration

Giuseppe Lucente 1 collaboration

Ian Linares-Pardo 1 collaboration

Judit Núñez-Manchón 1 collaboration

Nicolau Guanyabens 1 collaboration

Antoni Cano 1 collaboration

Alejandro Lucia 1 collaboration

Gayle Overend 1 collaboration

Sarah A Cumming 1 collaboration

Darren G Monckton 1 collaboration

Teresa Casadevall 1 collaboration

Irina Isern 1 collaboration

Josep Sánchez-Ojanguren 1 collaboration

Albert Planas 1 collaboration

Laura Monlleó-Neila 1 collaboration

Guillem Pintos-Morell 1 collaboration

Alba Ramos-Fransi 1 collaboration

Jaume Coll-Cantí 1 collaboration

Gisela Nogales-Gadea 1 collaboration

Christian Homedes-Pedret 1 collaboration

M Antonia Albertí-Aguiló 1 collaboration

Miren Zulaika 1 collaboration

Itxaso Martí 1 collaboration

Miguel Tomás-Vila 1 collaboration

Gemma Bullich 1 collaboration

M Asunción García-Pérez 1 collaboration

María-Jesús Sobrido-Gómez 1 collaboration

Eduardo López-Laso 1 collaboration

Carme Fons 1 collaboration

Sergi Beltran 1 collaboration

Benedetta Kassabian 1 collaboration

Amanda M Levy 1 collaboration

Elena Gardella 1 collaboration

Angel Aledo-Serrano 1 collaboration

Amitha L Ananth 1 collaboration

Alejandro J Brea-Fernández 1 collaboration

Roseline Caumes 1 collaboration

Nicolas Chatron 1 collaboration

Alice Dainelli 1 collaboration

Matthias De Wachter 1 collaboration

Elisa Fazzi 1 collaboration

Roxanne Felt 1 collaboration

Alberto Fernández-Jaén 1 collaboration

Montserrat Fernández-Prieto 1 collaboration

Emily Gantz 1 collaboration

Piotr Gasperowicz 1 collaboration

Antonio Gil-Nagel 1 collaboration

Hansel M Greiner 1 collaboration

Renzo Guerrini 1 collaboration

Maria K Haanpää 1 collaboration

Minttu Helin 1 collaboration

Staci Kallish 1 collaboration

Shefali N Karkare 1 collaboration

Amjad Khan 1 collaboration

Johannes Koch 1 collaboration

Sanjeev V Kothare 1 collaboration

Suzanna V Koudijs 1 collaboration

Lieven Lagae 1 collaboration

Phillis Lakeman 1 collaboration

Gaetan Lesca 1 collaboration

Diego Lopergolo 1 collaboration

Laina Lusk 1 collaboration

Alex Mackenzie 1 collaboration

Davide Mei 1 collaboration

Rikke S Møller 1 collaboration

Elaine M Pereira 1 collaboration

Konrad Platzer 1 collaboration

Chloe Quelin 1 collaboration

Sylvain Rheims 1 collaboration

Andrea Rossi 1 collaboration

Filippo Santorelli 1 collaboration

Syndi Seinfeld 1 collaboration

Erick Sell 1 collaboration

Donna Stephenson 1 collaboration

Krzysztof Szczaluba 1 collaboration

Eugen Trinka 1 collaboration

Muhammad Umair 1 collaboration

Hilde Van Esch 1 collaboration

Danielle C M Veenma 1 collaboration

Sacha Weber 1 collaboration

Sarah Weckhuysen 1 collaboration

Pia Zacher 1 collaboration

Guido Rubboli 1 collaboration

Carlos A García-Prieto 1 collaboration

Gerardo Ferrer 1 collaboration

Iolanda Jordan 1 collaboration

Iosune Alegría 1 collaboration

Patricia Flores-Pérez 1 collaboration

Verónica Cantarín 1 collaboration

Victoria Fumadó 1 collaboration

Maria Teresa Viadero 1 collaboration

Carlos Rodrigo 1 collaboration

Maria Méndez-Hernández 1 collaboration

Eduardo López-Granados 1 collaboration

Jacques G Rivière 1 collaboration

Pere Soler-Palacín 1 collaboration

Sara C Reichert 1 collaboration

Rachel Li 1 collaboration

Scott A Turner 1 collaboration

Richard H van Jaarsveld 1 collaboration

Maarten P G Massink 1 collaboration

Marie-José H van den Boogaard 1 collaboration

Silvia Maitz 1 collaboration

Lucy Loong 1 collaboration

Helen Stewart 1 collaboration

Elisa De Franco 1 collaboration

Sian Ellard 1 collaboration

Julie Frank 1 collaboration

Raymond Lewandowski 1 collaboration

Matthew P Wilson 1 collaboration

Alejandro Garanto 1 collaboration

Filippo Pinto E Vairo 1 collaboration

Bobby G Ng 1 collaboration

Wasantha K Ranatunga 1 collaboration

Marina Ventouratou 1 collaboration

Melissa Baerenfaenger 1 collaboration

Karin Huijben 1 collaboration

Christian Thiel 1 collaboration

Angel Ashikov 1 collaboration

Liesbeth Keldermans 1 collaboration

Erika Souche 1 collaboration

Sandrine Vuillaumier-Barrot 1 collaboration

Thierry Dupré 1 collaboration

Helen Michelakakis 1 collaboration

Agata Fiumara 1 collaboration

James Pitt 1 collaboration

Susan M White 1 collaboration

Sze Chern Lim 1 collaboration

Lyndon Gallacher 1 collaboration

Heidi Peters 1 collaboration

Daisy Rymen 1 collaboration

Peter Witters 1 collaboration

Antonia Ribes 1 collaboration

Blai Morales-Romero 1 collaboration

Diana Ballhausen 1 collaboration

Pascale de Lonlay 1 collaboration

Rita Barone 1 collaboration

Mirian C H Janssen 1 collaboration

Jaak Jaeken 1 collaboration

Hudson H Freeze 1 collaboration

Gert Matthijs 1 collaboration

Eva Morava 1 collaboration

Dirk J Lefeber 1 collaboration

Manuel Castro de Moura 1 collaboration

Damiana Alvarez-Errico 1 collaboration

Carles Arribas 1 collaboration

Jesús Troya 1 collaboration

Judit Villar-Garcia 1 collaboration

Juan P Horcajada 1 collaboration

Sergiu Albu 1 collaboration

Anna Rull 1 collaboration

Laia Reverte 1 collaboration

Beatriz Dietl 1 collaboration

David Dalmau 1 collaboration

Maria J Arranz 1 collaboration

Laia Llucià-Carol 1 collaboration

Anna M Planas 1 collaboration

Jordi Pérez-Tur 1 collaboration

Israel Fernandez-Cadenas 1 collaboration

Paula Villares 1 collaboration

Jair Tenorio 1 collaboration

Andrea Martin-Nalda 1 collaboration

Pere Soler-Palacin 1 collaboration

Francesc Vidal 1 collaboration

Irene de la Calle 1 collaboration

Miquel Raspall-Chaure 1 collaboration

Agathe Roubertie 1 collaboration

Mehdi Benkirane 1 collaboration

Francesco Saettini 1 collaboration

Lisa Pavinato 1 collaboration

Emily O'Heir 1 collaboration

Estibaliz Barredo 1 collaboration

Almudena Chacón 1 collaboration

Vincent Michaud 1 collaboration

Cyril Goizet 1 collaboration

Isabelle Rouvet 1 collaboration

Julia Sala-Coromina 1 collaboration

Chiara Fossati 1 collaboration

Francesco Canonico 1 collaboration

Anna Marcé-Grau 1 collaboration

Precilla de Souza 1 collaboration

David R Adams 1 collaboration

Heidi L Rehm 1 collaboration

Heather C Mefford 1 collaboration

Luis González Gutierrez-Solana 1 collaboration

Alfredo Brusco 1 collaboration

Michel Koenig 1 collaboration

Maria Espinosa-Alcantud 1 collaboration

Gorka Fernández-Eulate 1 collaboration

Jon Ondaro 1 collaboration

Pablo Iruzubieta 1 collaboration

Maria Marsal 1 collaboration

Stephane Fourcade 1 collaboration

Miren Zulaica 1 collaboration

Andone Sistiaga 1 collaboration

Garazi Labayru 1 collaboration

Pablo Loza-Alvarez 1 collaboration

Alejandro Vaquero 1 collaboration

Adolfo Lopez de Munain 1 collaboration

Marisa Girós 1 collaboration

Rafael Artuch 1 collaboration

María Eugenia Yoldi 1 collaboration

Mar O'Callaghan 1 collaboration

Angels García-Cazorla 1 collaboration

Judith Armstrong 1 collaboration

Itxaso Marti 1 collaboration

Elisabet Mondragón Rezola 1 collaboration

Claire Redin 1 collaboration

Jean Louis Mandel 1 collaboration

David Conejo 1 collaboration

Concepción Sierra-Córcoles 1 collaboration

Sergi Beltrán 1 collaboration

Marta Gut 1 collaboration

Elida Vázquez 1 collaboration

Leire Goicoechea 1 collaboration

Josefina Casas 1 collaboration

Felix Campelo 1 collaboration

Emmanuelle Jouanguy 1 collaboration

Jean-Laurent Casanova 1 collaboration

Odile Boespflug-Tanguy 1 collaboration

Maria Vazquez Cancela 1 collaboration

Luis González Gutiérrez-Solana 1 collaboration

Estela Area-Gomez 1 collaboration

Agustí Rodríguez-Palmero

Affiliations

Publications (15)

A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy.

DLG4-related synaptopathy: a new rare brain disorder.

POLR3A variants with striatal involvement and extrapyramidal movement disorder.

Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.

A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype.

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.

Developmental epileptic encephalopathy in DLG4-related synaptopathy.

Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C): A multicenter, retrospective study.

HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.

Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.

Epigenome-wide association study of COVID-19 severity with respiratory failure.

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.

Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia.

Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.

RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia.

Réseau de co-auteurs