Found: 32

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  • Clinical Characteristics and Risk Factors for Mortality in Very Old Patients Hospitalized With COVID-19 in Spain.

    Published in:
    2021
    By:
    • Ramos-Rincon, Jose-Manuel;
    • Buonaiuto, Verónica;
    • Ricci, Michele;
    • Martín-Carmona, Jesica;
    • Paredes-Ruíz, Diana;
    • Calderón-Moreno, María;
    • Rubio-Rivas, Manel;
    • Beato-Pérez, José-Luis;
    • Arnalich-Fernández, Francisco;
    • Monge-Monge, Daniel;
    • Vargas-Núñez, Juan-Antonio;
    • Acebes-Repiso, Gonzalo;
    • Mendez-Bailon, Manuel;
    • Perales-Fraile, Isabel;
    • García-García, Gema-María;
    • Guisado-Vasco, Pablo;
    • Abdelhady-Kishta, Alaaeldeen;
    • Pascual-Pérez, Maria-de-los-Reyes;
    • Rodríguez-Fernández-Viagas, Cristina;
    • Montaño-Martínez, Adrián
    Publication type:
    Journal Article

  • Assessment of the latest NGS enrichment capture methods in clinical context.

    Published in:
    Scientific Reports, 2016, p. 20948, doi. 10.1038/srep20948
    By:
    • García-García, Gema;
    • Baux, David;
    • Faugère, Valérie;
    • Moclyn, Mélody;
    • Koenig, Michel;
    • Claustres, Mireille;
    • Roux, Anne-Françoise
    Publication type:
    Article

  • Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.

    Published in:
    PLoS ONE, 2018, v. 13, n. 6, p. 1, doi. 10.1371/journal.pone.0199048
    By:
    • Pérez-Carro, Raquel;
    • Blanco-Kelly, Fiona;
    • Galbis-Martínez, Lilián;
    • García-García, Gema;
    • Aller, Elena;
    • García-Sandoval, Blanca;
    • Mínguez, Pablo;
    • Corton, Marta;
    • Mahíllo-Fernández, Ignacio;
    • Martín-Mérida, Inmaculada;
    • Avila-Fernández, Almudena;
    • Millán, José M.;
    • Ayuso, Carmen
    Publication type:
    Article

  • High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative.

    Published in:
    Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-35085-0
    By:
    • Fuster-García, Carla;
    • García-García, Gema;
    • Jaijo, Teresa;
    • Fornés, Neus;
    • Ayuso, Carmen;
    • Fernández-Burriel, Miguel;
    • Sánchez-De la Morena, Ana;
    • Aller, Elena;
    • Millán, José M.
    Publication type:
    Article

  • Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype.

    Published in:
    Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1352063
    By:
    • Esteve-Garcia, Anna;
    • Cobos, Estefania;
    • Sau, Cristina;
    • Padró-Miquel, Ariadna;
    • Català-Mora, Jaume;
    • Barberán-Martínez, Pilar;
    • Millán, José M.;
    • García-García, Gema;
    • Aguilera, Cinthia
    Publication type:
    Article

  • Nosocomial COVID-19: A Nationwide Spanish Study.

    Published in:
    Gerontology, 2023, v. 69, n. 6, p. 671, doi. 10.1159/000527711
    By:
    • Ramos-Rincon, Jose-Manuel;
    • Lopez-Sampalo, Almudena;
    • Cobos-Palacios, Lidia;
    • Ricci, Michele;
    • Rubio-Rivas, Manel;
    • Díaz-Simón, Raquel;
    • Martín-Escalante, María-Dolores;
    • Castañeda-Pérez, Sabela;
    • Fernández-Madera-Martínez, Rosa;
    • Beato-Perez, Jose-Luis;
    • García-García, Gema-Maria;
    • García-Andreu, María-del-Mar;
    • Arnalich-Fernandez, Francisco;
    • Molinos-Castro, Sonia;
    • Vargas-Núñez, Juan-Antonio;
    • Artero, Arturo;
    • Freire-Castro, Santiago-Jesús;
    • Fernández-Gómez, Jennifer;
    • Cubo-Romano, Pilar;
    • Hernández-Milián, Almudena
    Publication type:
    Article

  • The importance of biochemical and genetic findings in the diagnosis of atypical Norrie disease.

    Published in:
    Clinical Chemistry & Laboratory Medicine, 2018, v. 56, n. 2, p. 229, doi. 10.1515/cclm-2017-0226
    By:
    • Rodríguez-Muñoz, Ana;
    • García-García, Gema;
    • Menor, Francisco;
    • Millán, José M.;
    • Tomás-Vila, Miguel;
    • Jaijo, Teresa
    Publication type:
    Article

  • Use of glucocorticoids megadoses in SARS-CoV-2 infection in a spanish registry: SEMI-COVID-19.

    Published in:
    PLoS ONE, 2022, v. 17, n. 1, p. 1, doi. 10.1371/journal.pone.0261711
    By:
    • Lavilla Olleros, Cristina;
    • Ausín García, Cristina;
    • Bendala Estrada, Alejandro David;
    • Muñoz, Ana;
    • Wikman Jogersen, Philip Erick;
    • Fernández Cruz, Ana;
    • Giner Galvañ, Vicente;
    • Vargas, Juan Antonio;
    • Seguí Ripoll, José Miguel;
    • Rubio-Rivas, Manuel;
    • Miranda Godoy, Rodrigo;
    • Mérida Rodrigo, Luis;
    • Fonseca Aizpuru, Eva;
    • Arnalich Fernández, Francisco;
    • Artero, Arturo;
    • Loureiro Amigo, Jose;
    • García García, Gema María;
    • Corral Gudino, Luis;
    • Jiménez Torres, Jose;
    • Casas-Rojo, José-Manuel
    Publication type:
    Article

  • Clusters of inflammation in COVID-19: descriptive analysis and prognosis on more than 15,000 patients from the Spanish SEMI-COVID-19 Registry.

    Published in:
    Internal & Emergency Medicine, 2022, v. 17, n. 4, p. 1115, doi. 10.1007/s11739-021-02924-4
    By:
    • Rubio-Rivas, Manuel;
    • Mora-Luján, José María;
    • Formiga, Francesc;
    • Corrales González, Miguel Ángel;
    • García Andreu, María del Mar;
    • Moreno-Torres, Víctor;
    • García García, Gema María;
    • Alcalá Pedrajas, José N;
    • Boixeda, Ramon;
    • Pérez-Lluna, Leticia;
    • Cortés-Rodríguez, Begoña;
    • Mella-Pérez, Carmen;
    • Navas Alcántara, María de la Sierra;
    • López Reboiro, Manuel Lorenzo;
    • Alfaro-Lara, Verónica;
    • Pérez-Martín, Santiago;
    • Martín-Oterino, José Ángel;
    • Gracia Gutiérrez, Anyuli;
    • Martín-Urda Díez-Canseco, Anabel;
    • Comas Casanova, Pere
    Publication type:
    Article

  • Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology.

    Published in:
    International Journal of Molecular Sciences, 2022, v. 23, n. 22, p. 13964, doi. 10.3390/ijms232213964
    By:
    • Ortuño-Costela, María del Carmen;
    • Cerrada, Victoria;
    • Moreno-Izquierdo, Ana;
    • García-Consuegra, Inés;
    • Laberthonnière, Camille;
    • Delourme, Mégane;
    • Garesse, Rafael;
    • Arenas, Joaquín;
    • Fuster García, Carla;
    • García García, Gema;
    • Millán, José María;
    • Magdinier, Frédérique;
    • Gallardo, María Esther
    Publication type:
    Article

  • Usher Syndrome: Genetics of a Human Ciliopathy.

    Published in:
    International Journal of Molecular Sciences, 2021, v. 22, n. 13, p. 6723, doi. 10.3390/ijms22136723
    By:
    • Fuster-García, Carla;
    • García-Bohórquez, Belén;
    • Rodríguez-Muñoz, Ana;
    • Aller, Elena;
    • Jaijo, Teresa;
    • Millán, José M.;
    • García-García, Gema
    Publication type:
    Article

  • Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.

    Published in:
    Genes, 2020, v. 11, n. 12, p. 1467, doi. 10.3390/genes11121467
    By:
    • García-García, Gema;
    • Berzal-Serrano, Alba;
    • García-Díaz, Piedad;
    • Villanova-Aparisi, Rebeca;
    • Juárez-Rodríguez, Sara;
    • de Paula-Vernetta, Carlos;
    • Cavallé-Garrido, Laura;
    • Jaijo, Teresa;
    • Armengot-Carceller, Miguel;
    • Millán, José M;
    • Aller, Elena
    Publication type:
    Article

  • Application of CRISPR Tools for Variant Interpretation and Disease Modeling in Inherited Retinal Dystrophies.

    Published in:
    Genes, 2020, v. 11, n. 5, p. 473, doi. 10.3390/genes11050473
    By:
    • Fuster-García, Carla;
    • García-Bohórquez, Belén;
    • Rodríguez-Muñoz, Ana;
    • Millán, José M.;
    • García-García, Gema
    Publication type:
    Article

  • Genotype–phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials.

    Published in:
    Acta Ophthalmologica (1755375X), 2021, v. 99, n. 8, p. 922, doi. 10.1111/aos.14795
    By:
    • Galbis‐Martínez, Lilián;
    • Blanco‐Kelly, Fiona;
    • García‐García, Gema;
    • Ávila‐Fernández, Almudena;
    • Jaijo, Teresa;
    • Fuster‐García, Carla;
    • Perea‐Romero, Irene;
    • Zurita‐Muñoz, Olga;
    • Jimenez‐Rolando, Belén;
    • Carreño, Ester;
    • García‐Sandoval, Blanca;
    • Millán, José M.;
    • Ayuso, Carmen
    Publication type:
    Article

  • Neurotoxicidad por metronidazol.

    Published in:
    Medicina Interna de Mexico, 2022, v. 38, n. 5, p. 1096, doi. 10.24245/mim.v38i5.4556
    By:
    • García-García, Gema María;
    • Pascual-Pérez, María Josefa;
    • Fernández, Inmaculada Cimadevilla;
    • López-Moreno, Ana María;
    • Aranda-López, Carlos Antonio
    Publication type:
    Article

  • Malnutrition and sarcopenia worsen short- and long-term outcomes in internal medicine inpatients.

    Published in:
    Postgraduate Medical Journal, 2023, v. 99, n. 1168, p. 56, doi. 10.1093/postmj/qgad006
    By:
    • Carretero Gómez, Juana;
    • Galeano Fernández, Tomás F.;
    • Vidal Ríos, Antonio S.;
    • Pérez Palacios, María R.;
    • García García, Gema M.;
    • García Carrasco, Carolina;
    • Romero Requena, Jorge M.;
    • Fernández Recio, José M.;
    • Nevado López-Alegría, Leticia;
    • Pijierro Amador, Agustín;
    • Arévalo Lorido, José C.
    Publication type:
    Article

  • Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.

    Published in:
    Molecular Vision, 2020, v. 26, p. 216
    By:
    • García-García, Gema;
    • Sanchez-Navarro, Iker;
    • Aller, Elena;
    • Jaijo, Teresa;
    • Fuster-Garcia, Carla;
    • Rodríguez-Munoz, Ana;
    • Vallejo, Elena;
    • José Tellería, Juan;
    • Vázquez, Selma;
    • Beltrán, Sergi;
    • Derdak, Sophia;
    • Zurita, Olga;
    • Villaverde-Montero, Cristina;
    • Avila-Fernández, Almudena;
    • Corton, Marta;
    • Blanco-Kelly, Fiona;
    • Hakonarson, Hakon;
    • Millán, José M.;
    • Ayuso, Carmen
    Publication type:
    Article

  • Differences in clinical features and mortality in very old unvaccinated patients (≥ 80 years) hospitalized with COVID-19 during the first and successive waves from the multicenter SEMI-COVID-19 Registry (Spain).

    Published in:
    BMC Geriatrics, 2022, v. 22, n. 1, p. 1, doi. 10.1186/s12877-022-03191-4
    By:
    • Ramos-Rincon, Jose-Manuel;
    • Cobos-Palacios, Lidia;
    • López-Sampalo, Almudena;
    • Ricci, Michele;
    • Rubio-Rivas, Manel;
    • Nuñez-Rodriguez, Maria-Victoria;
    • Miranda-Godoy, Rodrigo;
    • García-Leoni, Maria-Eugenia;
    • Fernández-Madera-Martínez, Rosa;
    • García-García, Gema-María;
    • Beato-Perez, Jose-Luis;
    • Monge-Monge, Daniel;
    • Asín-Samper, Uxua;
    • Bustamante-Vega, Marta;
    • Rábago-Lorite, Isabel;
    • Freire-Castro, Santiago-Jesús;
    • Miramontes-González, Jose-Pablo;
    • Magallanes-Gamboa, Jeffrey-Oskar;
    • Alcalá-Pedrajas, José-Nicolás;
    • García-Gómez, Miriam
    Publication type:
    Article

  • Genetic Testing for Rare Diseases.

    Published in:
    2022
    By:
    • Millán, José M.;
    • García-García, Gema
    Publication type:
    Editorial

  • Analysis of the <i>Ush2a</i> Gene in Medaka Fish (<i>Oryzias latipes</i>).

    Published in:
    PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0074995
    By:
    • Aller, Elena;
    • Sánchez-Sánchez, Ana V.;
    • Chicote, Javier U.;
    • García-García, Gema;
    • Udaondo, Patricia;
    • Cavallé, Laura;
    • Piquer-Gil, Marina;
    • García-España, Antonio;
    • Díaz-Llopis, Manuel;
    • Millán, José M.;
    • Mullor, José L.
    Publication type:
    Article

  • Study of USH1 Splicing Variants through Minigenes and Transcript Analysis from Nasal Epithelial Cells.

    Published in:
    PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0057506
    By:
    • Aparisi, María José;
    • García-García, Gema;
    • Aller, Elena;
    • Sequedo, María Dolores;
    • Martínez-Fernández de la Cámara, Cristina;
    • Rodrigo, Regina;
    • Armengot, Miguel;
    • Cortijo, Julio;
    • Milara, Javier;
    • Díaz-LLopis, Manuel;
    • Jaijo, Teresa;
    • Millán, José María
    Publication type:
    Article

  • Targeted next generation sequencing for molecular diagnosis of Usher syndrome.

    Published in:
    Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 168, doi. 10.1186/s13023-014-0168-7
    By:
    • Aparisi, María J;
    • Aller, Elena;
    • Fuster-García, Carla;
    • García-García, Gema;
    • Rodrigo, Regina;
    • Vázquez-Manrique, Rafael P;
    • Blanco-Kelly, Fiona;
    • Ayuso, Carmen;
    • Roux, Anne-Françoise;
    • Jaijo, Teresa;
    • Millán, José M
    Publication type:
    Article

  • Genetic Screening of the Usher Syndrome in Cuba.

    Published in:
    Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00501
    By:
    • Santana, Elayne E.;
    • Fuster-García, Carla;
    • Aller, Elena;
    • Jaijo, Teresa;
    • García-Bohórquez, Belén;
    • García-García, Gema;
    • Millán, José M.;
    • Lantigua, Araceli
    Publication type:
    Article

  • PCR-Based Strategy for Introducing CRISPR/Cas9 Machinery into Hematopoietic Cell Lines.

    Published in:
    Cancers, 2023, v. 15, n. 17, p. 4263, doi. 10.3390/cancers15174263
    By:
    • González-Romero, Elisa;
    • Martínez-Valiente, Cristina;
    • García-García, Gema;
    • Rosal-Vela, Antonio;
    • Millán, José María;
    • Sanz, Miguel Ángel;
    • Sanz, Guillermo;
    • Liquori, Alessandro;
    • Cervera, José Vicente;
    • Vázquez-Manrique, Rafael P.
    Publication type:
    Article

  • WHO Ordinal Scale and Inflammation Risk Categories in COVID-19. Comparative Study of the Severity Scales.

    Published in:
    JGIM: Journal of General Internal Medicine, 2022, v. 37, p. 1980, doi. 10.1007/s11606-022-07511-7
    By:
    • Rubio-Rivas, Manuel;
    • Mora-Luján, José María;
    • Formiga, Francesc;
    • Arévalo-Cañas, Coral;
    • Lebrón Ramos, Juan Manuel;
    • Villalba García, María Victoria;
    • Fonseca Aizpuru, Eva Mª;
    • Díez-Manglano, Jesús;
    • Arnalich Fernández, Francisco;
    • Romero Cabrera, Juan Luis;
    • García García, Gema María;
    • Pesqueira Fontan, Paula M.;
    • Vargas Núñez, Juan Antonio;
    • Freire Castro, Santiago Jesús;
    • Loureiro Amigo, José;
    • Pascual Pérez, Maria de los Reyes;
    • Alcalá Pedrajas, José N.;
    • Encinas-Sánchez, Daniel;
    • Mella Pérez, Carmen;
    • Ena, Javier
    Publication type:
    Article

  • Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss.

    Published in:
    Human Mutation, 2019, v. 40, n. 12, p. 2286, doi. 10.1002/humu.23891
    By:
    • Morgan, Anna;
    • Koboldt, Daniel C.;
    • Barrie, Elizabeth S.;
    • Crist, Erin R.;
    • García García, Gema;
    • Mezzavilla, Massimo;
    • Faletra, Flavio;
    • Mihalic Mosher, Theresa;
    • Wilson, Richard K.;
    • Blanchet, Catherine;
    • Manickam, Kandamurugu;
    • Roux, Anne‐Francoise;
    • Gasparini, Paolo;
    • Dell'Orco, Daniele;
    • Girotto, Giorgia
    Publication type:
    Article

  • Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy.

    Published in:
    Human Mutation, 2012, v. 33, n. 1, p. 104, doi. 10.1002/humu.21634
    By:
    • Vaché, Christel;
    • Besnard, Thomas;
    • le Berre, Pauline;
    • García-García, Gema;
    • Baux, David;
    • Larrieu, Lise;
    • Abadie, Caroline;
    • Blanchet, Catherine;
    • Bolz, Hanno Jörn;
    • Millan, Jose;
    • Hamel, Christian;
    • Malcolm, Sue;
    • Claustres, Mireille;
    • Roux, Anne-Françoise
    Publication type:
    Article

  • Ethnicity and Clinical Outcomes in Patients Hospitalized for COVID-19 in Spain: Results from the Multicenter SEMI-COVID-19 Registry.

    Published in:
    Journal of Clinical Medicine, 2022, v. 11, n. 7, p. 1949, doi. 10.3390/jcm11071949
    By:
    • Ramos-Rincon, Jose-Manuel;
    • Cobos-Palacios, Lidia;
    • López-Sampalo, Almudena;
    • Ricci, Michele;
    • Rubio-Rivas, Manuel;
    • Martos-Pérez, Francisco;
    • Lalueza-Blanco, Antonio;
    • Moragón-Ledesma, Sergio;
    • Fonseca-Aizpuru, Eva-María;
    • García-García, Gema-María;
    • Beato-Perez, Jose-Luis;
    • Josa-Laorden, Claudia;
    • Arnalich-Fernández, Francisco;
    • Molinos-Castro, Sonia;
    • Torres-Peña, José-David;
    • Artero, Arturo;
    • Vargas-Núñez, Juan-Antonio;
    • Mendez-Bailon, Manuel;
    • Loureiro-Amigo, Jose;
    • Hernández-Garrido, María-Soledad
    Publication type:
    Article

  • Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes.

    Published in:
    Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-021-03925-1
    By:
    • Rodriguez-Muñoz, Ana;
    • Liquori, Alessandro;
    • García-Bohorquez, Belén;
    • Jaijo, Teresa;
    • Aller, Elena;
    • Millán, José M.;
    • García-García, Gema
    Publication type:
    Article

  • Mortality reduction in older COVID-19-patients hospitalized in Spain during the second pandemic wave from the SEMI-COVID-19 Registry.

    Published in:
    Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-42735-5
    By:
    • Casas-Rojo, José-Manuel;
    • Antón-Santos, Juan-Miguel;
    • Millán-Núñez-Cortés, Jesús;
    • Gómez-Huelgas, Ricardo;
    • Ramos-Rincón, José-Manuel;
    • Rubio-Rivas, Manuel;
    • Corrales-González, Miguel-Ángel;
    • Fernández-Madera-Martínez, Maria-Rosa;
    • Beato-Pérez, José-Luis;
    • Arnalich-Fernández, Francisco;
    • Gállego-Lezaun, Cristina;
    • Pérez-Martínez, Pablo;
    • Molinos-Castro, Sonia;
    • Tung-Chen, Yale;
    • Madrazo, Manuel;
    • Méndez-Bailón, Manuel;
    • Monge-Monge, Daniel;
    • García-García, Gema-María;
    • García-Fenoll, Rosa;
    • Gilabert, Noemí
    Publication type:
    Article

  • Mortality reduction in older COVID-19-patients hospitalized in Spain during the second pandemic wave from the SEMI-COVID-19 Registry.

    Published in:
    Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-42735-5
    By:
    • Casas-Rojo, José-Manuel;
    • Antón-Santos, Juan-Miguel;
    • Millán-Núñez-Cortés, Jesús;
    • Gómez-Huelgas, Ricardo;
    • Ramos-Rincón, José-Manuel;
    • Rubio-Rivas, Manuel;
    • Corrales-González, Miguel-Ángel;
    • Fernández-Madera-Martínez, Maria-Rosa;
    • Beato-Pérez, José-Luis;
    • Arnalich-Fernández, Francisco;
    • Gállego-Lezaun, Cristina;
    • Pérez-Martínez, Pablo;
    • Molinos-Castro, Sonia;
    • Tung-Chen, Yale;
    • Madrazo, Manuel;
    • Méndez-Bailón, Manuel;
    • Monge-Monge, Daniel;
    • García-García, Gema-María;
    • García-Fenoll, Rosa;
    • Gilabert, Noemí
    Publication type:
    Article

  • Prognostic Value of D-dimer to Lymphocyte Ratio (DLR) in Hospitalized Coronavirus Disease 2019 (COVID-19) Patients: A Validation Study in a National Cohort.

    Published in:
    Viruses (1999-4915), 2024, v. 16, n. 3, p. 335, doi. 10.3390/v16030335
    By:
    • Oblitas, Crhistian-Mario;
    • Demelo-Rodríguez, Pablo;
    • Alvarez-Sala-Walther, Luis-Antonio;
    • Rubio-Rivas, Manuel;
    • Navarro-Romero, Francisco;
    • Giner Galvañ, Vicente;
    • de Jorge-Huerta, Lucía;
    • Fonseca Aizpuru, Eva;
    • García García, Gema María;
    • Beato Pérez, José Luis;
    • Pesqueira Fontan, Paula María;
    • Artero Mora, Arturo;
    • Vargas Núñez, Juan Antonio;
    • Ramírez Perea, Nuria;
    • García Bruñén, José Miguel;
    • Roy Vallejo, Emilia;
    • Perales-Fraile, Isabel;
    • Gil Sánchez, Ricardo;
    • López Castro, José;
    • Martínez González, Ángel Luis
    Publication type:
    Article