Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings von Alvarez-Mora, Maria Isabel, Blanco-Palmero, Victor Antonio, Quesada-Espinosa, Juan Francisco, Arteche-Lopez, Ana Rosa, Llamas-Velasco, Sara, Palma Milla, Carmen, Lezana Rosales, Jose Miguel, Gomez-Manjon, Irene, Hernandez-Lain, Aurelio, Jimenez Almonacid, Justino, Gil-Fournier, Belén, Ramiro-León, Soraya, González-Sánchez, Marta, Herrero-San Martín, Alejandro Octavio, Pérez-Martínez, David Andrés, Gómez-Tortosa, Estrella, Carro, Eva, Bartolomé, Fernando, Gomez-Rodriguez, Maria Jose, Sanchez-Calvin, María Teresa, Villarejo-Galende, Alberto, Moreno-Garcia, Marta

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Novel genes and sex differences in COVID-19 severity von Cruz, Raquel, Almeida, Silvia Diz-de, Heredia, Miguel López, Quintela, Inés, Ceballos, Francisco C, Pita, Guillermo, Lorenzo-Salazar, José M, González-Montelongo, Rafaela, Gago-Domínguez, Manuela, Porras, Marta Sevilla, Castaño, Jair Antonio Tenorio, Nevado, Julian, Aguado, Jose María, Aguilar, Carlos, Aguilera-Albesa, Sergio, Almadana, Virginia, Almoguera, Berta, Alvarez, Nuria, Andreu-Bernabeu, Álvaro, Arana-Arri, Eunate, Arango, Celso, Arranz, María J, Artiga, Maria-Jesus, Baptista-Rosas, Raúl C, Barreda-Sánchez, María, Belhassen-Garcia, Moncef, Bezerra, Joao F, Bezerra, Marcos A C, Boix-Palop, Lucía, Brion, María, Brugada, Ramón, Bustos, Matilde, Calderón, Enrique J, Carbonell, Cristina, Castano, Luis, Castelao, Jose E, Conde-Vicente, Rosa, Cordero-Lorenzana, M Lourdes, Cortes-Sanchez, Jose L, Corton, Marta, Darnaude, M Teresa, De Martino-Rodríguez, Alba, Campo-Pérez, Victor, Bustamante, Aranzazu Diaz, Domínguez-Garrido, Elena, Luchessi, Andre D, Eirós, Rocío, Sanabria, Gladys Mercedes Estigarribia, Fariñas, María Carmen, Fernández-Robelo, Uxía, Fernández-Rodríguez, Amanda, Fernández-Villa, Tania, Gil-Fournier, Belén, Gómez-Arrue, Javier, Álvarez, Beatriz González, Quirós, Fernan Gonzalez Bernaldo, González-Peñas, Javier, Gutiérrez-Bautista, Juan F, Herrero, María José, Herrero-Gonzalez, Antonio, Jimenez-Sousa, María A, Lattig, María Claudia, Borja, Anabel Liger, Lopez-Rodriguez, Rosario, Mancebo, Esther, Martín-López, Caridad, Martín, Vicente, Martinez-Nieto, Oscar, Martinez-Lopez, Iciar, Martinez-Resendez, Michel F, Martinez-Perez, Ángel, Mazzeu, Juliana A, Macías, Eleuterio Merayo, Minguez, Pablo, Cuerda, Victor Moreno, Silbiger, Vivian N, Oliveira, Silviene F, Ortega-Paino, Eva, Parellada, Mara, Paz-Artal, Estela, Santos, Ney P C, Pérez-Matute, Patricia, Perez, Patricia, Pérez-Tomás, M Elena, Perucho, Teresa, Pinsach-Abuin, Mel Lina, Pompa-Mera, Ericka N, Porras-Hurtado, Gloria L, Pujol, Aurora, León, Soraya Ramiro, Resino, Salvador, Fernandes, Marianne R, Rodríguez-Ruiz, Emilio, Rodriguez-Artalejo, Fernando, Rodriguez-Garcia, José A, Ruiz-Cabello, Francisco, Ruiz-Hornillos, Javier, Ryan, Pablo, Soria, José Manuel, Souto, Juan Carlos

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Is the Next Generation Sequencing the Essential Tool for the Early Diagnostic Approach in Congenital Muscular Dystrophy? New Mutation in the Gen LMNA Associated with Serious Phenot... von Avila, Guillermo, González, Ana, Abad, Araceli, Fournier, Belén, León, Soraya, Corral, Jaime, Fernández, Carlos

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Coexistent HCN4 and GATA5 Rare Variants and Atrial Fibrillation in a Large Spanish Family von Fraile, Alfonso, Cebrián, Jorge, Thuissard-Vasallo, Israel, Pérez-Martín, Sara, Casado, Raquel, Gil-Fournier, Belén, Alonso-Martín, Joaquín, Tamargo, Juan, Caballero, Ricardo, Delpón, Eva, Cosío, Francisco G.

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Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy von Salazar-Mendiguchía, Joel, Ochoa, Juan Pablo, Palomino-Doza, Julian, Domínguez, Fernando, Díez-López, Carles, Akhtar, Mohammed, Ramiro-León, Soraya, Clemente, María M, Pérez-Cejas, Antonia, Robledo, María, Gómez-Díaz, Iria, Peña-Peña, María Luisa, Climent, Vicente, Salmerón-Martínez, Francisco, Hernández, Celestino, García-Granja, Pablo E, Mogollón, M Victoria, Cárdenas-Reyes, Ivonne, Cicerchia, Marcos, García-Giustiniani, Diego, Lamounier Jr, Arsonval, Gil-Fournier, Belén, Díaz-Flores, Felícitas, Salguero, Rafael, Santomé, Luis, Syrris, Petros, Olivé, Montse, García-Pavía, Pablo, Ortiz-Genga, Martín, Elliott, Perry M., Monserrat, Lorenzo

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Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test von Arteche-López, Ana, Gómez Rodríguez, Maria José, Sánchez Calvin, Maria Teresa, Quesada-Espinosa, Juan Francisco, Lezana Rosales, Jose Miguel, Palma Milla, Carmen, Gómez-Manjón, Irene, Hidalgo Mayoral, Irene, Pérez de la Fuente, Rubén, Díaz de Bustamante, Arancha, Darnaude, María Teresa, Gil-Fournier, Belén, Ramiro León, Soraya, Ramos Gómez, Patricia, Sierra Tomillo, Olalla, Juárez Rufián, Alexandra, Arranz Cano, Maria Isabel, Villares Alonso, Rebeca, Morales-Pérez, Pablo, Segura-Tudela, Alejandro, Camacho, Ana, Nuñez, Noemí, Simón, Rogelio, Moreno-García, Marta, Alvarez-Mora, Maria Isabel

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Whole Exome Sequencing and Panel-Based Analysis in 176 Spanish Children with Neurodevelopmental Disorders: Focus on Autism Spectrum Disorder and/or Intellectual Disability/Global D... von Sánchez Suárez, Ariadna, Martínez Menéndez, Beatriz, Escolar Escamilla, Eduardo, Martínez Sarries, Francisco J, Esparza Garrido, Miren Iranzu, Gil-Fournier, Belén, Ramiro León, Soraya, Rubio Gribble, Bárbara, Quesada Espinosa, Juan F, Alcaraz Romero, Andrés J

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Rabdomiólisis aguda en una paciente portadora en heterocigosis de una mutación no descrita en el gen PNPLA2 von Pinel González, Ana Belén, Hernández Laín, Aurelio, Gil Fournier, Belén, Ramiro León, Soraya

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Carey-Fineman-Ziter Syndrome: A MYMK-Related Myopathy Mimicking Brainstem Dysgenesis von Camacho, Ana, Martínez, Beatriz, Alvarez, Sara, Gil-Fournier, Belén, Ramiro, Soraya, Hernández-Laín, Aurelio, Núñez, Noemí, Simón, Rogelio

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Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies von Barbosa-Gouveia, Sofia, Vázquez-Mosquera, Maria Eugenia, González-Vioque, Emiliano, Hermida-Ameijeiras, Álvaro, Sánchez-Pintos, Paula, de Castro, Maria José, León, Soraya Ramiro, Gil-Fournier, Belén, Domínguez-González, Cristina, Camacho Salas, Ana, Negrão, Luis, Fineza, Isabel, Laranjeira, Francisco, Couce, Maria Luz

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Novel risk loci for COVID-19 hospitalization among admixed American populations von Diz-de Almeida, Silvia, Cruz, Raquel, Luchessi, Andre D, Lorenzo-Salazar, José M, de Heredia, Miguel López, Quintela, Inés, González-Montelongo, Rafaela, Nogueira Silbiger, Vivian, Porras, Marta Sevilla, Tenorio Castaño, Jair Antonio, Nevado, Julian, Aguado, Jose María, Aguilar, Carlos, Aguilera-Albesa, Sergio, Almadana, Virginia, Almoguera, Berta, Alvarez, Nuria, Andreu-Bernabeu, Álvaro, Arana-Arri, Eunate, Arango, Celso, Arranz, María J, Artiga, Maria-Jesus, Baptista-Rosas, Raúl C, Barreda- Sánchez, María, Belhassen-Garcia, Moncef, Bezerra, Joao F, Bezerra, Marcos AC, Boix-Palop, Lucía, Brion, María, Brugada, Ramón, Bustos, Matilde, Calderón, Enrique J, Carbonell, Cristina, Castano, Luis, Castelao, Jose E, Conde-Vicente, Rosa, Cordero-Lorenzana, M Lourdes, Cortes-Sanchez, Jose L, Corton, Marta, Darnaude, M Teresa, De Martino-Rodríguez, Alba, del Campo-Pérez, Victor, de Bustamante, Aranzazu Diaz, Domínguez-Garrido, Elena, Eirós, Rocío, Fariñas, María Carmen, Fernandez-Nestosa, María J, Fernández-Robelo, Uxía, Fernández-Rodríguez, Amanda, Fernández-Villa, Tania, Gago-Dominguez, Manuela, Gil-Fournier, Belén, Gómez-Arrue, Javier, Álvarez, Beatriz González, Bernaldo de Quirós, Fernan Gonzalez, González-Neira, Anna, González-Peñas, Javier, Gutiérrez-Bautista, Juan F, Herrero, María José, Herrero-Gonzalez, Antonio, Jimenez-Sousa, María A, Lattig, María Claudia, Borja, Anabel Liger, Lopez-Rodriguez, Rosario, Mancebo, Esther, Martín-López, Caridad, Martín, Vicente, Martinez-Nieto, Oscar, Martinez-Lopez, Iciar, Martinez-Resendez, Michel F, Martinez-Perez, Angel, Mazzeu, Juliana F, Macías, Eleuterio Merayo, Minguez, Pablo, Cuerda, Victor Moreno, Oliveira, Silviene F, Ortega-Paino, Eva, Parellada, Mara, Paz-Artal, Estela, Santos, Ney PC, Pérez-Matute, Patricia, Perez, Patricia, Pérez-Tomás, M Elena, Perucho, Teresa, Pinsach-Abuin, Mellina, Pita, Guillermo, Pompa-Mera, Ericka N, Porras-Hurtado, Gloria L, Pujol, Aurora, León, Soraya Ramiro, Resino, Salvador, Fernandes, Marianne R, Rodríguez-Ruiz, Emilio, Rodriguez-Artalejo, Fernando, Rodriguez-Garcia, José A, Ruiz-Cabello, Francisco, Ruiz-Hornillos, Javier, Ryan, Pablo, Soria, José Manuel, Souto, Juan Carlos

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Novel risk loci for COVID-19 hospitalization among admixed American populations von Diz-de Almeida, Silvia, Cruz, Raquel, Luchessi, Andre D, Lorenzo-Salazar, José M, de Heredia, Miguel López, Quintela, Inés, González-Montelongo, Rafaela, Nogueira Silbiger, Vivian, Porras, Marta Sevilla, Tenorio Castaño, Jair Antonio, Nevado, Julian, Aguado, Jose María, Aguilar, Carlos, Aguilera-Albesa, Sergio, Almadana, Virginia, Almoguera, Berta, Alvarez, Nuria, Andreu-Bernabeu, Álvaro, Arana-Arri, Eunate, Arango, Celso, Arranz, María J, Artiga, Maria-Jesus, Baptista-Rosas, Raúl C, Barreda-Sánchez, María, Belhassen-Garcia, Moncef, Bezerra, Joao F, Bezerra, Marcos A C, Boix-Palop, Lucía, Brion, María, Brugada, Ramón, Bustos, Matilde, Calderón, Enrique J, Carbonell, Cristina, Castano, Luis, Castelao, Jose E, Conde-Vicente, Rosa, Cordero-Lorenzana, M Lourdes, Cortes-Sanchez, Jose L, Corton, Marta, Darnaude, M Teresa, De Martino-Rodríguez, Alba, Del Campo-Pérez, Victor, de Bustamante, Aranzazu Diaz, Domínguez-Garrido, Elena, Eirós, Rocío, Fariñas, María Carmen, Fernandez-Nestosa, María J, Fernández-Robelo, Uxía, Fernández-Rodríguez, Amanda, Fernández-Villa, Tania, Gago-Dominguez, Manuela, Gil-Fournier, Belén, Gómez-Arrue, Javier, Álvarez, Beatriz González, Bernaldo de Quirós, Fernan Gonzalez, González-Neira, Anna, González-Peñas, Javier, Gutiérrez-Bautista, Juan F, Herrero, María José, Herrero-Gonzalez, Antonio, Jimenez-Sousa, María A, Lattig, María Claudia, Borja, Anabel Liger, Lopez-Rodriguez, Rosario, Mancebo, Esther, Martín-López, Caridad, Martín, Vicente, Martinez-Nieto, Oscar, Martinez-Lopez, Iciar, Martinez-Resendez, Michel F, Martinez-Perez, Angel, Mazzeu, Juliana F, Macías, Eleuterio Merayo, Minguez, Pablo, Cuerda, Victor Moreno, Oliveira, Silviene F, Ortega-Paino, Eva, Parellada, Mara, Paz-Artal, Estela, Santos, Ney P C, Pérez-Matute, Patricia, Perez, Patricia, Pérez-Tomás, M Elena, Perucho, Teresa, Pinsach-Abuin, Mellina, Pita, Guillermo, Pompa-Mera, Ericka N, Porras-Hurtado, Gloria L, Pujol, Aurora, León, Soraya Ramiro, Resino, Salvador, Fernandes, Marianne R, Rodríguez-Ruiz, Emilio, Rodriguez-Artalejo, Fernando, Rodriguez-Garcia, José A, Ruiz-Cabello, Francisco, Ruiz-Hornillos, Javier, Ryan, Pablo, Soria, José Manuel, Souto, Juan Carlos

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Cystinuria in a patient with 19q12q13.1 deletion von de Rojas, Teresa, Aparicio, Cristina, de Lucas, Carmen, Martinez, Beatriz, Gil-Fournier, Belén, Ramiro-León, Soraya

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Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2 von Pérez-Jurado, Luis A., Cáceres, Alejandro, Balagué-Dobón, Laura, Esko, Tonu, López de Heredia, Miguel, Quintela, Inés, Cruz, Raquel, Lapunzina, Pablo, Carracedo, Ángel, González, Juan R.

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Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine von Aparicio Lopez, Cristina, Anton-Martin, Pilar, Gil-Fournier, Belen, Ramiro-Leon, Soraya, Perez-Nanclares, Gustavo, Perez de Nanclares, Guiomar, Martinez Menendez, Beatriz, Castano, Luis

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Alport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine 1205 to Valine von Pilar Antón-Martín, Cristina Aparicio López, Soraya Ramiro-León, Sonia Santillán Garzón, Fernando Santos-Simarro, Belén Gil-Fournier

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Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications von Perea-Romero, Irene, Gordo, Gema, Iancu, Ionut F., Del Pozo-Valero, Marta, Almoguera, Berta, Blanco-Kelly, Fiona, Carreño, Ester, Jimenez-Rolando, Belen, Lopez-Rodriguez, Rosario, Lorda-Sanchez, Isabel, Martin-Merida, Inmaculada, Pérez de Ayala, Lucia, Riveiro-Alvarez, Rosa, Rodriguez-Pinilla, Elvira, Tahsin-Swafiri, Saoud, Trujillo-Tiebas, Maria J., Garcia-Sandoval, Blanca, Minguez, Pablo, Avila-Fernandez, Almudena, Corton, Marta, Ayuso, Carmen

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The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome von Vidal, S., Brandi, N., Pacheco, P., Maynou, J., Fernandez, G., Xiol, C., Pascual-Alonso, A., Pineda, M., Maria del Mar, O'Callaghan, Garcia-Cazorla, Àngels, del Carmen Serrano Munuera, Maria, García, Silvia Cuso, Troncoso, Monica, Fariña, Guillermo, García Peñas, Juan José, Fournier, Belen Gil, León, Soraya Ramiro, Guitart, Miriam, Baena, Neus, de Nanclares, Guiomar Perez, Oci, Intzane Ocio, Gutiérrez-Delicado, Eva, Abarrategui, Belén, Barroso, Eva, Santos-Simarro, Fernando, Lapunzina, Pablo, García, Francisco J., Acedo, Juan M., García, Asunción, Martinez, Miguel A., Martínez-Bermejo, Antonio, Armstrong, J.

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Alport syndrome: de novo mutation in the COL4A5 gene converting glycine 1205 to valine von Anton-Ma, Aparicio Lopez, Cristina, Ramiro-Leon, Soraya, Santillan Garzon, Sonia, Gil-Fournier, Belen

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A novel missense mutation in the alpha-sarcoglycan gene in a Spanish family with muscular dystrophy von Pinel-González, Ana, Montero-Escribano, Paloma, Aladro, Yolanda, Gil-Fournier, Belén, Ramiro-León, Soraya

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