Browsing by Author Planas Serra, Laura

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Showing results 1 to 13 of 13
Issue DateTitleAuthor(s)
1-Jan-2020A deep intronic splice variant advises reexamination of presumably dominant SPG7 CasesVerdura, Edgard; Schlüter, Agatha; Fernández Eulate, Gorka; Ramos-Martín, Raquel; Zulaica, Miren; Planas Serra, Laura; Ruiz, Montserrat; Fourcade, Stéphane; Casasnovas Pons, Carlos; López de Munain, Adolfo; Pujol Onofre, Aurora
19-Apr-2022Accelerated biological aging in COVID-19 patientsCao, Xue; Li, Wenjuan; Wang, Ting; Ran, Dongzhi; Davalos, Veronica; Planas Serra, Laura; Pujol Onofre, Aurora; Esteller, Manel; Wang, Xiaolin; Yu, Huichuan
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
6-Aug-2020Case Report: Benign Infantile Seizures Temporally Associated With COVID-19García Howard, Marcos; Herranz Aguirre, Mercedes; Moreno Galarraga, Laura; Urretavizcaya Martínez, María; Alegría Echauri, Josune; Gorría Redondo, Nerea; Planas Serra, Laura; Schlüter, Agatha; Gut, Marta; Pujol Onofre, Aurora; Aguilera Albesa, Sergio
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
13-Apr-2021Neutralizing Autoantibodies to Type I IFNs in >10% of Patients with Severe COVID-19 Pneumonia Hospitalized in Madrid, SpainTroya, Jesús; Bastard, Paul; Planas Serra, Laura; Ryan, Pablo; Ruiz, Montserrat; Carranza, María de; Torres, Juan; Martínez, Amalia; Abel, Laurent; Casanova, Jean-Laurent; Pujol Onofre, Aurora
1-Mar-2021Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European malesBaldassarri, Margherita; Picchiotti, Nicola; Fava, Francesca; Fallerini, Chiara; Benetti, Elisa; Daga, Sergio; Valentino, Floriana; Doddato, Gabriella; Furini, Simone; Giliberti, Annarita; Tita, Rossella; Amitrano, Sara; Bruttini, Mirella; Croci, Susanna; Meloni, Ilaria; Pinto, Anna Maria; Iuso, Nicola; Gabbi, Chiara; Sciarra, Francesca; Venneri, Mary Anna; Gori, Marco; Sanarico, Maurizio; Crawley, Francis P.; Pagotto, Uberto; Fanelli, Flaminia; Mezzullo, Marco; Dominguez Garrido, Elena; Planas Serra, Laura; Schlüter, Agatha; Colobran, Roger; Soler Palacín, Pere; Lapunzina, Pablo; Tenorio, Jair; Pujol Onofre, Aurora; Castagna, Maria Grazia; Marcelli, Marco; Isidori, Andrea M.; Renieri, Alessandra; Frullanti, Elisa; Mari, Francesca; Spanish Covid HGE, GENCOVID Multicenter Study
19-Aug-2021X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19Asano, Takaki; Boisson, Bertrand; Onodi, Fanny; Matuozzo, Daniela; Moncada Velez, Marcela; Maglorius Renkilaraj, Majistor Raj Luxman; Zhang, Peng; Meertens, Laurent; Bolze, Alexandre; Materna, Marie; Korniotis, Sarantis; Lifton, Richard P.; Bastard, Paul; Abel, Laurent; Jouanguy, Emmanuelle; Amara, Ali; Soumelis, Vassili; Cobat, Aurélie; Zhang, Qian; Casanova, Jean-Laurent; COVID Human Genetic Effort; French COVID Cohort Study Group; COVID-STORM Clinicians; Amsterdam UMC Covid-19 Biobank; COVID Clinicians; Gervais, Adrian; Imagine COVID Group; CoV-Contact Cohort; NIAID-USUHS COVID Study Group; Talouarn, Estelle; Bigio, Benedetta; Seeleuthner, Yoann; Bilguvar, Kaya; Zhang, Yu; Neehus, Anna-Lena; Ogishi, Masato; Soler Palacín, Pere; Pelham, Simon J.; Martin Nalda, Andrea; Le Voyer, Tom; Rosain, Jérémie; Philippot, Quentin; Colobran, Roger; Rivière, Jacques G.; Tandjaoui-Lambiotte, Yacine; Chaïbi, Khalil; Shahrooei, Mohammad; Darazam, Ilad Alavi; Olyaei, Nasrin Alipour; Mansouri, Davood; Hatipoğlu, Nevin; Casari, Giorgio; Palabiyik, Figen; Carrera, Paola; Ozcelik, Tayfun; Novelli, Giuseppe; Novelli, Antonio; Aiuti, Alessandro; Bondesan, Simone; Barzaghi, Federica; Rovere-Querini, Patrizia; Tresoldi, Cristina; Franco, Jose Luis; Rojas, Julian; Reyes, Luis Felipe; Bustos, Ingrid G.; Planas Serra, Laura; Arias, Andres Augusto; Gut, Marta; Morelle, Guillaume; Christèle, Kyheng; Troya, Jesús; Schlüter, Agatha; Pujol, Aurora; Allende, Luis M.; Rodriguez Gallego, Carlos; Flores, Carlos; Cabrera Marante, Oscar; Pleguezuelo, Daniel E.; Pérez de Diego, Rebeca; Keles, Sevgi; Brodin, Petter; Aytekin, Gokhan; Smith, C.I. Edvard; Akcan, Ozge Metin; Bryceson, Yenan T.; Bergman, Peter; Smole, Daniel; Norlin, Anna-Carin; Campbell, Tessa M.; Covill, Laura E.; Hammarström, Lennart; Pan-Hammarström, Qiang; Abolhassani, Hassan; Mane, Shrikant; Marr, Nico; Dalgard, Clifton L.; Ata, Manar; Biondi, Andrea; Al Ali, Fatima; Khan, Taushif; Spaan, András N.; Bonfanti, Paolo; Tubiana, Sarah; Burdet, Charles; Nussbaum, Robert L.; Kahn-Kirby, Amanda; Snow, Andrew L.; Bustamante, Jacinta; Puel, Anne; Boisson-Dupuis, Stéphanie; Notarangelo, Luigi D.; Zhang, Shen-Ying; Su, Helen C.; Béziat, Vivien