Browsing by Author Rodríguez Palmero, Agustí

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Issue DateTitleAuthor(s)
15-Aug-2020A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophyRodríguez Palmero, Agustí; Schlüter, Agatha; Verdura, Edgard; Ruiz, Montserrat; Martínez, Juan José; Gourlaouen, Isabelle; Ka, Chandran; Lobato, Ricardo; Casasnovas Pons, Carlos; Gac, Gérald Le; Fourcade, Stéphane; Pujol Onofre, Aurora
1-Oct-2021Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentationsHochberg, Irit; Demain, Leigh A. M.; Richer, Julie; Thompson, Kyle; Urquhart, Jill E.; Rea, Alessandro; Pagarkar, Waheeda; Rodríguez Palmero, Agustí; Schlüter, Agatha; Verdura, Edgard; Pujol, Aurora; Quijada Fraile, Pilar; Amberger, Albert; Deutschmann, Andrea J.; Demetz, Sandra; Gillespie, Meredith; Belyantseva, Inna A.; Mcmillan, Hugh J.; Barzik, Melanie; Beaman, Glenda M.; Motha, Reeya; Ng, Kah Ying; O’sullivan, James; Williams, Simon G.; Bhaskar, Sanjeev S.; Lawrence, Isabella R.; Jenkinson, Emma M.; Zambonin, Jessica L.; Blumenfeld, Zeev; Yalonetsky, Sergey; Oerum, Stephanie; Rossmanith, Walter; Yue, Wyatt W.; Zschocke, Johannes; Munro, Kevin J.; Battersby, Brendan J.; Friedman, Thomas B.; Taylor, Robert W.; O’keefe, Raymond T.; Newman, William G.
20-Aug-2021Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophyVerdura, Edgard; Rodríguez Palmero, Agustí; Vélez Santamaría, Valentina; Planas Serra, Laura; Calle, Irene de la; Raspall Chaure, Miquel; Roubertie, Agathe; Benkirane, Mehdi; Saettini, Francesco; Pavinato, Lisa; Mandrile, Giorgia; O’leary, Melanie; O’heir, Emily; Barredo, Estibaliz; Chacón, Almudena; Michaud, Vincent; Goizet, Cyril; Ruiz, Montserrat; Schlüter, Agatha; Rouvet, Isabelle; Sala Coromina, Júlia; Fossati, Chiara; Iascone, Maria; Canonico, Francesco; Marcé Grau, Anna; Souza, Precilla de; Adams, David; Casasnovas Pons, Carlos; Rehm, Heidi L.; Mefford, Heather C.; González Gutierrez-Solana, Luis; Brusco, Alfredo; Koenig, Michel; Macaya, Alfons; Pujol, Aurora
10-Jan-2022Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven PrioritizationSchlüter, Agatha; Rodríguez Palmero, Agustí; Verdura, Edgard; Vélez Santamaría, Valentina; Ruiz, Montserrat; Fourcade, Stephane; Planas Serra, Laura; Martínez, Juan José; Guilera, Cristina; Girós, Marisa; Artuch, Rafael; Yoldi, María Eugenia; O'Callaghan, Mar; García Cazorla, Angels; Armstrong, Judith; Marti, Itxaso; Mondragón Rezola, Elisabet; Redin, Claire; Mandel, Jean Louis; Conejo, David; Sierra Córcoles, Concepción; Beltran, Sergi; Gut, Marta; Vázquez, Elida; Toro, Mireia del; Troncoso, Mónica; Pérez Jurado, Luis A.; Gutiérrez Solana, Luis G.; López de Munain, Adolfo; Casasnovas Pons, Carlos; Aguilera Albesa, Sergio; Macaya, Alfons; Pujol, Aurora; GWMD working group
1-Aug-2022Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C): A multicenter, retrospective studyDavalos, Veronica; García Prieto, Carlos A.; Ferrer, Gerardo; Aguilera Albesa, Sergio; Valencia Ramos, Juan; Rodríguez Palmero, Agustí; Ruiz, Montserrat; Planas Serra, Laura; Jordan, Iolanda; Alegría, Iosune; Flores Pérez, Patricia; Cantarín, Verónica; Fumadó, Victoria; Viadero, Maria Teresa; Rodrigo, Carlos; Méndez Hernández, Maria; López Granados, Eduardo; Colobran, Roger; Rivière, Jacques G.; Soler Palacín, Pere; Pujol, Aurora; Esteller, Manel
1-Apr-2021Epigenome-wide association study of COVID-19 severity with respiratory failureCastro de Moura, Manuel; Davalos, Veronica; Planas Serra, Laura; Alvarez Errico, Damiana; Arribas, Carles; Ruiz, Montserrat; Aguilera Albesa, Sergio; Troya, Jesús; Valencia Ramos, Juan; Vélez Santamaria, Valentina; Rodríguez Palmero, Agustí; Villar García, Judit; Horcajada, Juan Pablo; Albu, Sergiu; Casasnovas Pons, Carlos; Rull, Anna; Reverte, Laia; Dietl, Beatriz; Dalmau, David; Arranz, Maria J.; Llucià-carol, Laia; Planas, Anna M.; Pérez Tur, Jordi; Fernández Cadenas, Israel; Villares, Paula; Tenorio, Jair; Colobran, Roger; Martin Nalda, Andrea; Soler Palacín, Pere; Vidal, Francesc; Pujol Onofre, Aurora; Esteller, Manel
26-Apr-2020HNRNPH1 ‐related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndromeReichert, Sara Chadwick; Li, Rachel; Turner, Scott; Van Jaarsveld, Richard H.; Massink, Maarten P. G.; Van Den Boogaard, Marie José H.; Toro, Mireia del; Rodríguez Palmero, Agustí; Fourcade, Stéphane; Schlüter, Agatha; Planas Serra, Laura; Pujol Onofre, Aurora; Iascone, Maria; Maitz, Sylvia; Loong, Lucy; Stewart, Helen; Franco, Elisa De; Ellard, Sian; Frank, Julie; Lewandowski, Raymond
5-Oct-2020Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndromeGarcía Cazorla, Àngels; Verdura, Edgard; Juliá Palacios, Natalia; Anderson, Eric N.; Goicoechea, Leire; Planas Serra, Laura; Tsogtbaatar, Enkhtuul; Dsouza, Nikita R.; Schlüter, Agatha; Urreizti, Roser; Tarnowski, Jessica M.; Gavrilova, Ralitza H.; SHMT Working Group; Ruiz, Montserrat; Rodríguez Palmero, Agustí; Fourcade, Stéphane; Cogné, Benjamin; Besnard, Thomas; Vincent, Marie; Bézieau, Stéphane; Folmes, Clifford D.; Zimmermann, Michael T.; Klee, Eric W.; Pandey, Udai Bhan; Artuch Iriberri, Rafael; Cousin, Margot A.; Pujol Onofre, Aurora
23-Oct-2020Inborn errors of type I IFN immunity in patients with life-threatening COVID-19Zhang, Qian; Dorgham, Karim; Schlüter, Agatha; Quiros Roldan, Eugenia; Novelli, Giuseppe; Planas Serra, Laura; Rodríguez Palmero, Agustí; COVID-STORM Clinicians; COVID Clinicians; Imagine COVID Group; French COVID Cohort Study Group; CoV-Contact Cohort; Amsterdam UMC Covid-19 Biobank; COVID Human Genetic Effort; NIAID-USUHS/TAGC COVID Immunity Group
1-Apr-2020POLR3A variants with striatal involvement and extrapyramidal movement disorderHarting, Inga; Al-Saady, Murtadha; Krägeloh-Mann, Ingeborg; Bley, Annette; Hempel, Maja; Bierhals, Tatjana; Karch, Stephanie; Moog, Ute; Bernard, Geneviève; Huntsman, Richard; van Spaendonk, Rosalina M. L.; Vreeburg, Maaike; Rodríguez Palmero, Agustí; Pujol Onofre, Aurora; van der Knaap, Marjo S.; Pouwels, Petra J. W.; Wolf, Nicole I.