Browsing by Author Schlüter, Agatha
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| Issue Date | Title | Author(s) |
|---|---|---|
| 1-Jan-2020 | A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases | Verdura, 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 |
| 15-Aug-2020 | A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy | Rodríguez 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 |
| 19-Apr-2019 | A novel mutation in the GFAP gene expands the phenotype of Alexander disease | Casasnovas Pons, Carlos; Verdura, Edgard; Vélez Santamaria, Valentina; Schlüter, Agatha; Pons Escoda, Albert; Homedes, Christian; Ruiz, Montserrat; Fourcade, Stéphane; Launay, Nathalie; Pujol Onofre, Aurora |
| 1-Oct-2021 | Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations | Hochberg, 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-2021 | Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy | Verdura, 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 Gutiérrez-Solana, Luis; Brusco, Alfredo; Koenig, Michel; Macaya, Alfons; Pujol, Aurora |
| 1-Oct-2019 | Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study | Casasnovas Pons, Carlos; Ruiz, Montserrat; Schlüter, Agatha; Naudi, Alba; Fourcade, Stéphane; Veciana, Misericordia; Castañer, Sara; Albertí, Antonia; Bargalló Alabart, Núria; Johnson, Maria; Raymond, Gerald V.; Fatemi, Ali; Moser, Ann B.; Villarroya i Gombau, Francesc; Portero-Otín, Manuel; Artuch Iriberri, Rafael; Pamplona, Reinald; Pujol, Aurora |
| 6-Aug-2020 | Case Report: Benign Infantile Seizures Temporally Associated With COVID-19 | García 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 |
| 13-Aug-2019 | Clinical presentation and proteomic signature of patients with TANGO2 mutations | Mingirulli, Nadja; Pyle, Angela; Hathazi, Denisa; Alston, Charlotte L.; Kohlschmidt, Nicolai; O'Grady, Gina; Waddell, Leigh; Evesson, Frances; Cooper, Sandra B. T.; Turner, Christian; Duff, Jennifer; Topf, Ana; Yubero, Delia; Jou, Cristina; Nascimento, Andrés; Ortez, Carlos Ignacio; García Cazorla, Àngels; Gross, Claudia; O'Callaghan, Maria; Santra, Saikat; Preece, Maryanne A.; Champion, Michael; Korenev, Sergei; Chronopoulou, Efsthatia; Anirban, Majumdar; Pierre, Germaine; McArthur, Daniel; Thompson, Kyle; Navas, Placido; Ribes Rubió, Maria Antònia; Tort, Frederic; Schlüter, Agatha; Pujol Onofre, Aurora; Montero, Raquel; Sarquella, Georgia; Lochmüller, Hanns; Jiménez Mallebrera, Cecilia; Taylor, Robert W.; Artuch Iriberri, Rafael; Kirschner, Janbernd; Grünert, Sarah C.; Roos, Andreas; Horvath, Rita |
| 7-Sep-2023 | ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization | Schlüter, Agatha; Vélez Santamaría, Valentina; Verdura, Edgard; Rodríguez Palmero, Agustí; Ruiz, Montserrat; Fourcade, Stéphane; Planas Serra, Laura; Launay, Nathalie; Guilera, Cristina; Martínez, Juan José; Homedes Pedret, Christian; Albertí Aguiló, M. Antonia; Zulaika, Miren; Martí, Itxaso; Troncoso, Mónica; Tomás Vila, Miguel; Bullich, Gemma; García Pérez, M. Asunción; Sobrido Gómez, María Jesús; López Laso, Eduardo; Fons, Carme; Toro, Mireia del; Macaya, Alfons; García Cazorla, Àngels; Ortiz Martínez, Antonio José; Ortez, Carlos Ignacio; Cáceres Marzal, Cristina; Martínez Salcedo, Eduardo; Mondragón, Elisabet; Barredo, Estíbaliz; Antón Airaldi, Ileana; Ruíz Martínez, Javier; Fernández Ramos, Joaquin A.; Vázquez, Juan Francisco; Díez Porras, Laura; Vázquez Cancela, María; O’Callaghan, Mar; Pablo Sánchez, Tamara; Nedkova, Velina; Maraña Pérez, Ana Isabel; Beltran, Sergi; Gutiérrez Solana, Luis G.; Pérez Jurado, Luis A.; Aguilera Albesa, Sergio; López de Munain, Adolfo; Casasnovas, Carlos; Pujol, Aurora; HSP/ATAXIA Workgroup |
| 19-Feb-2024 | Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2 | Pérez-jurado, Luis A.; Cáceres, Alejandro; Balagué-dobón, Laura; Esko, Tonu; López De Heredia, Miguel; Quintela, Inés; Cruz, Raquel; Lapunzina, Pablo; Carracedo, Ángel; Abellán, Javier; Acosta-isaac, René; Aguado, Jose María; Aguilar, Carlos; Aguilera-albesa, Sergio; Ahmadi Sabbagh, Abdolah; Alba, Jorge; Albu, Sergiu; Alcalá-gallardo, Karla A. M.; Alcoba-florez, Julia; Alcolea Batres, Sergio; Algarin-lara, Holmes Rafael; Almadana, Virginia; Medeiros, Kelliane A.; Almeida, Julia; Almoguera, Berta; Alonso, María R.; Álvarez, Nuria; Álvarez-sala Walther, Rodolfo; Álvarez-benítez, Yady; Álvarez-navia, Felipe; Dos Santos, Katiusse A.; Andreu-bernabeu, Álvaro; Antonijoan, Maria Rosa; Martínez-aquino, Eleno; Arana-arri, Eunate; Aranda, Carlos; Arango, Celso; Araque, Carolina; Araujo, Nathalia K.; Arcanjo, Ana C.; Arnaiz, Ana; Arnalich Fernández, Francisco; Arranz, María J.; Arribas López, José Ramón; Artiga, Maria-jesús; Avello-malaver, Yubelly; Ayuso, Carmen; Ballina Martín, Belén; Baptista-rosas, Raúl C.; Baldion, Ana María; Barranco-díaz, Andrea; Barreda-sánchez, María; Barrera-penagos, Viviana; Belhassen-garcia, Moncef; Bernal-bello, David; Bernal, Enrique; Bezerra, Joao F.; Bezerra, Marcos A. C.; Blanca-lópez, Natalia; Blancas, Rafael; Boix-palop, Lucía; Borobia, Alberto; Bravo, Elsa; Brion, María; Brochado-kith, Óscar; Brugada, Ramón; Bustos, Matilde; Cabello, Alfonso; Cáceres-agra, Juan J.; Calbo, Esther; Calderón, Enrique J.; Camacho, Shirley; Ceballos, Francisco C.; Cañadas, Yolanda; Carbonell, Cristina; Cardona-huerta, Servando; Sánchez-carpintero Abad, María; Carpio Segura, Carlos; Carrillo-avila, José Antonio; Campos, Marcela C.; Casasnovas, Carlos; Castaño, Luis; Castaño, Carlos F.; Castelao, Jose E.; Castellano Candalija, Aranzazu; Castillo, María A.; Chaves-santiago, Walter G.; Chiquillo-gómez, Sylena; Cid-lópez, Marco A.; Cienfuegos-jiménez, Óscar; Conde-vicente, Rosa; Cunha, Gabriela C. R.; Cordero-lorenzana, M. Lourdes; Corella, Dolores; Corrales, Almudena; Cortés-sánchez, Jose L.; Corton, Marta; Souza, Karla S. C.; Silva, Fabiola T. C.; Cuesta, Luisa; Tavares, Nathali A. C.; Carvalho, Maria C. C.; Dalmau, David; Dantas-komatsu, Raquel C. S.; Darnaude, M. Teresa; De Andrés, Raimundo; De Juan, Carmen; De La Cruz Troca, Juan J.; De La Horra, Carmen; De La Hoz, Ana B.; De Martino-rodríguez, Alba; Cruz, Marina S.; De Sousa Alves Neri, Julianna Lys; Del Campo-pérez, Victor; Delgado-cuesta, Juan; Diaz De Bustamante, Aranzazu; Díaz-pérez, Anderson; Dietl, Beatriz; Diz-de Almeida, Silvia; Do Monte Alves, Manoella; Domínguez-garrido, Elena; Rosa, Lidia S.; Luchessi, Andre D.; Echave-sustaeta, Jose; Eiros, Rocío; Enciso-olivera, César O.; Escudero, Gabriela; España, Pedro Pablo; Estigarribia Sanabria, Gladys; Fariñas, María Carmen; Fernández, Ramón; Fernández-caballero, Lidia; Fernández-cruz, Ana; Fernández-ferrero, Silvia; Fernández Martínez, Yolanda; Fernandez-nestosa, María J.; Fernández-robelo, Uxía; Fernández-rodríguez, Amanda; Fernández-sampedro, Marta; Fernández, Ruth; Fernández-villa, Tania; Fernández-capitán, Carmen; Carioca, Antonio Augusto F.; Flores-pérez, Patricia; Fuenmayor-hernández, Lácides; Fuertes-núñez, Marta; Fumadó, Victoria; Gadea, Ignacio; Gagliardi, Lidia; Gago-domínguez, Manuela; Gallego, Natalia; Galoppo, Cristina; García-soidán, Ana; García-cerrada, Carlos; García-de-vicuña, Aitor; Garcia-garcía, Josefina; García-garcía, Irene; García-ibarbia, Carmen; García-montero, Andrés C.; García, Leticia; García, Mercedes; García Torrejón, María Carmen; García, Inés; García-vázquez, Elisa; Garza-frias, Emiliano; Gentile, Angela; Gil-fournier, Belén; De Araújo, Jéssica N. G.; Gómez-duque, Mario; Gómez-arrue, Javier; Gómez Carrera, Luis; Gómez García, María; Gómez Sacristán, Ángela; González, Juan R.; González-neira, Anna; González Álvarez, Beatriz; González Bernaldo De Quirós, Fernán; González-montelongo, Rafaela; González-peñas, Javier; Gonzalez-sagrado, Manuel; Gonzalo-benito, Hugo; Gorgojo-galindo, Oscar; Górgolas, Miguel; Guaragna, Florencia; Chaux, Jessica G.; Guillén-navarro, Encarna; Guillén-guío, Beatriz; Guisado-vasco, Pablo; Gutiérrez-castañeda, Luz D.; Gutiérrez-bautista, Juan F.; Heili-frades, Sara; Jacomo, Rafael H.; Hernández, Estefania; Hernández-moro, Cristina; Hernández-ortega, Luis D.; Hernández-pérez, Guillermo; Hernández-vaquero, Rebeca; Herráez, Belén; Herranz, M. Teresa; Herrera, María; Herrero, María José; Herrero-gonzález, Antonio; Horcajada, Juan P.; Imaz-ayo, Natale; Intxausti-urrutibeaskoa, Maider; Íñigo-campos, Antonio; Íñiguez, María; Jara, Rubén; Jiménez, Ángel; Jiménez-alfaro, Ignacio; Jiménez, Pilar; Jiménez-sousa, María A.; Jordan, Iolanda; Laguna-goya, Rocío; Laorden, Daniel; Lasa-lázaro, María; Lattig, María Claudia; Lauriente, Ailen; Liger Borja, Anabel; Llanos, Lucía; López-bernús, Amparo; López De Heredia, Miguel; Lopez-garcia, Esther; López-granados, Eduardo; Lopez-rodriguez, Rosario; López-ruz, Miguel A.; Lorente, Leonardo; Lorenzo-salazar, José M.; Lozano, José E.; Lozano-espinosa, María; Mahillo, Ignacio; Mancebo, Esther; Mar, Carmen; Marcelo Calvo, Cristina; Marcos-delgado, Alba; Marcos, Miguel; Marín-candón, Alicia; Mariscal-aguilar, Pablo; Martin-pedraza, Laura; Martin-fernandez, Marta; Martín-lópez, Caridad; Martín-oterino, José-Ángel; Martín, María Dolores; Martín, Vicente; Martín, María M.; Martín-vicente, María; Martinez, Amalia; Martínez-gonzález, Óscar; Martínez, Ricardo; Martinez-paz, Pedro; Díaz-caneja, Covadonga M.; Martínez-nieto, Óscar; Martínez-lópez, Iciar; Martínez-reséndez, Michel F.; Martínez, Silvia; Martínez, Juan José; Martínez-pérez, Ángel; Martínez-ramas, Andrea; Martínez-robles, Violeta; Marzal, Laura; Mazzeu, Juliana F.; Medrano, Francisco J.; Meijome, Xose M.; Mejuto-montero, Natalia; Mendes, Ingrid; Duarte, Alice L.; Méndez-echevarría, Ana; Mendoza Charris, Humberto; Merayo Macías, Eleuterio; Mercadillo, Fátima; Mercado-sesma, Arieh R.; Mínguez, Pablo; Molina-roldán, Elena; Molina, Antonio J. J.; Montoya, Juan José; Pinho, Susana M. T.; Moreira-escriche, Patricia; Morelos-arnedo, Xenia; Moreno, Rocío; Moreno Cuerda, Víctor; Moreno-docón, Antonio; Moreno-escalante, Junior; Moreno Fernández, Alberto; Muñoz García, Patricia; Neira, Pablo; Nevado, Julián; Nieto-gañán, Israel; Silbiger, Vivian N.; Nuñez-torres, Rocío; Obrador-hevia, Antònia; Ocejo-vinyals, J. Gonzalo; Olivar, Virginia; Oliveira, Silviene F.; Ondo, Lorena; Orfao, Alberto; Ortega-paino, Eva; Ortega, Luis; Ortiz-lópez, Rocío; Ortiz-flores, Fernando; Oteo, José A.; Pacheco, Manuel; Pacheco-miranda, Fredy Javier; Padilla-conejo, Irene; Panadero-fajardo, Sonia; Parellada, Mara; Pariente-rodríguez, Roberto; Friaza, Vicente; Paz-artal, Estela; Peces-barba, Germán; Pedromingo Kus, Miguel S.; Perales, Celia; Santos, Ney P. C.; Guegel, Genilson P.; Pérez, María Jazmín; Pérez, Alexandra; Pérez-matute, Patricia; Pérez, César; Pérez-de-nanclares, Gustavo; Pérez-garcía, Felipe; Pérez, Patricia; Pérez-tomás, M. Elena; Perucho, Teresa; Pichardo, Lisbeth A.; Ribeiro, Adriana P.; Pinsach-abuin, Mel·lina; Pinzón, Luz Adriana; Medeiros, Jeane F. P.; Pita, Guillermo; Pla-juncà, Francesc; Planas-serra, Laura; Pompa-mera, Ericka N.; Porras-hurtado, Gloria L.; Pujol, Aurora; Quevedo-chávez, María Eugenia; Quijada, Maria Angeles; Quintela, Inés; Ramiro-león, Soraya; Rascado Sedes, Pedro; Nunes, Joana F. R.; Recalde, Delia; Recio-fernández, Emma; Resino, Salvador; Sousa, Renata R.; Rivadeneira-chamorro, Carlos S.; Roa-agudelo, Diana; Robelo Pardo, Montserrat; Fernandes, Marianne R.; Rodríguez-hernández, María A.; Rodriguez-palmero, Agustí; Rodríguez-ruiz, Emilio; Rodriguez, Marilyn Johanna; Rodríguez-artalejo, Fernando; Rodríguez-ferrer, Marena; Rodríguez-gallego, Carlos; Rodríguez-garcía, José A.; Maya, Belén Rodríguez; Rodriguez-nicolas, Antonio; Rodríguez-novoa, German Ezequiel; Rodriguez-urrego, Paula A.; Rojo, Federico; Romero-coronado, Andrea; Morilla, Rubén; Rondón-garcía, Filomeno; Rosales-castillo, Antonio; Rubio, Cladelis; Olivera, María Rubio; Ruiz-cabello, Francisco; Ruiz-casares, Eva; Ruiz-cubillan, Juan J.; Ruiz-hornillos, Javier; Ruiz, Montserrat; Ryan, Pablo; Salamanca, Hector D.; Salazar-garcía, Lorena; Salgueiro-origlia, Giorgina Gabriela; Sangil, Anna; Sánchez-pernaute, Olga; Sánchez, Pedro-luis; Sánchez López, Antonio J.; Sánchez-pablo, Clara; Sánchez-prados, María Concepción; Sánchez-real, Javier; Sánchez-redondo, Jorge; Sancho-sainz, Cristina; Sande, Esther; Santos, Arnoldo; Schlüter, Agatha; Segovia, Sonia; Serra-llovich, Alex; Sevil-puras, Fernando; Sevilla-porras, Marta; Sicolo, Miguel A.; Silván-fuentes, Cristina; Moraes, Vitor M. S.; Souza, Vanessa S.; Solé-violán, Jordi; Soria, José Manuel; Sorlí, Jose V.; Silva, Nayara S.; Souto, Juan Carlos; Sprockel, John J.; Suárez-rama, José Javier; Suárez-zamora, David A.; Taboada-fraga, Xiana; Tamayo, Eduardo; Tamayo-velasco, Alvaro; Taracido-fernández, Juan Carlos; Vasconcelos, Romero H. T.; Tellería, Carlos; Carratto, Thássia M. T.; Tenorio-castaño, Jair Antonio; Teper, Alejandro; Araujo, Izabel M. T.; Torres-macho, Juan; Torres-tobar, Lilian; Torres-gutiérrez, Ronald P.; Troya, Jesús; Urioste, Miguel; Valencia-ramos, Juan; Valido, Agustín; Vargas-gallo, Juan Pablo; Varón, Belén; Vega, Tomas; Velasco-quirce, Santiago; Vélez-santamaría, Valentina; Víctor, Virginia; Vidán-estévez, Julia; Silva, Gabriela V.; Vieitez-santiago, Miriam; Vilches, Carlos; Villalobos, Lavinia; Villar, Felipe; Villar-garcia, Judit; Villaverde, Cristina; Villoslada-blanco, Pablo; Virseda-berdices, Ana; Costa, Tatiana X.; Yáñez, Zuleima; Zapatero-gaviria, Antonio; Zarate, Ruth; Zazo, Sandra; Flores, Carlos; Riancho, José A.; Rojas-martinez, Augusto; González, Juan R.; Scourge Cohort Group |
| 2020 | Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia | Verdura, Edgard; Fons, Carme; Schlüter, Agatha; Ruiz, Montserrat; Fourcade, Stéphane; Casasnovas Pons, Carlos; Castellano, Antonio; Pujol Onofre, Aurora |
| 1-Jan-2015 | Deregulation of purine metabolism in Alzheimer's disease | Ansoleaga, Belén; Jove, Mariona; Schlüter, Agatha; Garcia Esparcia, Paula; Moreno Castro, Jesús; Pujol Onofre, Aurora; Pamplona, Reinald; Portero Otin, Manuel; Ferrer, Isidro (Ferrer Abizanda) |
| 10-Jan-2022 | Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization | Schlüter, Agatha; Rodríguez Palmero, Agustí; Verdura, Edgard; Vélez Santamaría, Valentina; Ruiz, Montserrat; Fourcade, Stephane; Planas Serra, Laura; Martínez, Juan José; Guilera, Cristina; Girós, Marisa; Artuch Iriberri, Rafael; Yoldi, María Eugenia; O'Callaghan, Mar; García Cazorla, Àngels; 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; Gutiérrez Solana, Luis G.; López de Munain, Adolfo; Casasnovas Pons, Carlos; Aguilera Albesa, Sergio; Macaya, Alfons; Pujol, Aurora; GWMD working group |
| 24-Feb-2018 | Epigenomic signature of adrenoleukodystrophy predicts compromised oligodendrocyte differentiation | Schlüter, Agatha; Sandoval, Juan; Fourcade, Stéphane; Díaz Lagares, Angel; Ruiz, Montserrat; Casaccia, Patrizia; Esteller, Manel; Pujol Onofre, Aurora |
| 14-Aug-2023 | Frequency and phenotypic spectrum of spinocerebellar ataxia <scp>27B</scp> and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia | Iruzubieta, Pablo; Pellerin, David; Bergareche, Alberto; Albajar, Inés; Mondragón, Elisabet; Vinagre, Ana; Fernández Torrón, Roberto; Moreno, Fermín; Equiza, Jon; Campo Caballero, David; Poza, Juan José; Ruibal, Marta; Formica, Alessandro; Dicaire, Marie Josée; Danzi, Matt C.; Zuchner, Stephan; Croitoru, Ioana; Ruiz, Montserrat; Schlüter, Agatha; Casasnovas, Carlos; Pujol, Aurora; Brais, Bernard; Houlden, Henry; López de Munain, Adolfo; Ruiz Martínez, Javier |
| 1-Apr-2018 | Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes | Rotroff, Daniel M.; Pijut, Sonja S.; Skylar W.; Jack, John R.; Havener, Tammy M.; Pujol Onofre, Aurora; Schlüter, Agatha; Graf, Gregory A.; Ginsberg, Henry N.; Shah, Hetal S.; Gao, He; Morieri, Mario-Luca; Doria, Alessandro; Mychaleckyi, Josyf C.; Mcleod, Howard L.; Buse, John B.; Wagner, Michael J.; Motsinger-Reif, Alison A.; ACCORD/ACCORDion Investigators |
| 26-Apr-2020 | HNRNPH1 ‐related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome | Reichert, 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-2020 | Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome | García 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 |
| 10-Feb-2023 | Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children | Lee, Danyel; Le Pen, Jérémie; Yatim, Ahmad; Dong, Beihua; Aquino, Yann; Ogishi, Masato; Pescarmona, Rémi; Talouarn, Estelle; Rinchai, Darawan; Zhang, Peng; Perret, Magali; Meyts, Isabelle; Haerynck, Filomeen; Pujol Onofre, Aurora; Sancho Shimizu, Vanessa; Dalgard, Clifford L.; Bustamante, Jacinta; Puel, Anne; Boisson-Dupuis, Stéphanie; Boisson, Bertrand; Maniatis, Tom; Zhang, Qian; Bastard, Paul; Notarangelo, Luigi D.; Béziat, Vivien; Perez De Diego, Rebeca; Rodriguez Gallego, Carlos; Su, Helen C.; Lifton, Richard P.; Jouanguy, Emmanuelle; Cobat, Aurélie; Alsina, Laia; Keles, Sevgi; Haddad, Elie; Casanova, Jean-Laurent; Abel, Laurent; Belot, Alexandre; Zhang, Shen-Ying; Quintana Murci, Lluis; Silverman, Robert H.; Rice, Charles M.; Liu, Zhiyong; Jordan Garcia, Iolanda; Elmas Bozdemir, Sefika; Bayhan, Gulsum Iclal; Beaufils, Camille; Bizien, Lucy; Bisiaux, Aurelie; Lei, Weite; Hasan, Milena; Chen, Jie; Gaughan, Christina; Asthana, Abhishek; Libri, Valentina; Luna, Joseph M.; Jaffré, Fabrice; Hoffmann, Heinrich H.; Michailidis, Eleftherios; Moreews, Marion; Seeleuthner, Yoann; Bilguvar, Kaya; Mane, Shrikant; Flores, Carlos; Zhang, Yu; Arias, Andrés A.; Bailey, Rasheed; Schlüter, Agatha; Milisavljevic, Baptiste; Bigio, Benedetta; Antón López, Jordi; Le Voyer, Tom; Materna, Marie; Gervais, Adrian; Moncada Velez, Marcela; Pala, Francesca; Lazarov, Tomi; Levy, Romain; Neehus, Anna-Lena; Rosain, Jérémie; Peel, Jessica; Chan, Yi-Hao; Morin, Marie-Paule; Pino Ramírez, Rosa Maria; Belkaya, Serkan; Lorenzo, Lazaro; Delafontaine, Selket; Toubiana, Julie; Bajolle, Fanny; Fumadó, Victoria; DeDiego, Marta L.; Fidouh, Nadhira; Rozenberg, Flore; Pérez Tur, Jordi; Chen, Shuibing; Evans, Todd; Geissmann, Frédéric; Lebon, Pierre; Weiss, Susan R.; Bonnet, Damien; Duval, Xavier; CoV-Contact Cohort; COVID Human Genetic Effort; Pan-Hammarström, Qiang; Planas Obradors, Anna M. |
| 23-Oct-2020 | Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 | Zhang, 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 |