Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant von Komulainen‐Ebrahim, Jonna, Kangas, Salla M., López‐Martín, Estrella, Feyma, Timothy, Scaglia, Fernando, Martínez‐Delgado, Beatriz, Kuismin, Outi, Suo‐Palosaari, Maria, Carr, Lucinda, Hinttala, Reetta, Kurian, Manju A., Uusimaa, Johanna

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DEMOCOPHES SPAIN AND ITS CONTRIBUTION TO THE HARMONIZATION OF EUROPEAN HUMAN BIOMONITORING von Esteban López, Marta, López Martín, Estrella, Rodríguez García, Carolina, Posada De la Paz, Manuel, Castaño Calvo, Argelia

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The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers von Gainotti, Sabina, Torreri, Paola, Wang, Chiuhui Mary, Reihs, Robert, Mueller, Heimo, Heslop, Emma, Roos, Marco, Badowska, Dorota Mazena, de Paulis, Federico, Kodra, Yllka, Carta, Claudio, Martìn, Estrella Lopez, Miller, Vanessa Rangel, Filocamo, Mirella, Mora, Marina, Thompson, Mark, Rubinstein, Yaffa, Posada de la Paz, Manuel, Monaco, Lucia, Lochmüller, Hanns, Taruscio, Domenica

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De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects von Martinez‐Delgado, Beatriz, Lopez‐Martin, Estrella, Lara‐Herguedas, Julián, Monzon, Sara, Cuesta, Isabel, Juliá, Miguel, Aquino, Virginia, Rodriguez‐Martin, Carlos, Damian, Alejandra, Gonzalo, Irene, Gomez‐Mariano, Gema, Baladron, Beatriz, Cazorla, Rosario, Iglesias, Gema, Roman, Enriqueta, Ros, Purificacion, Tutor, Pablo, Mellor, Susana, Jimenez, Carlos, Cabrejas, Maria Jose, Gonzalez‐Vioque, Emiliano, Alonso, Javier, Bermejo‐Sánchez, Eva, Posada, Manuel

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DEMOCOPHES España y su contribución a la armonización de la biovigilancia humana en Europa von Esteban López, Marta, López Martín, Estrella, Rodríguez García, Carolina, Posada De la Paz, Manuel, Castaño Calvo, Argelia

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CERT1 mutations perturb human development by disrupting sphingolipid homeostasis von Gehin, Charlotte, Lone, Museer A, Lee, Winston, Capolupo, Laura, Ho, Sylvia, Adeyemi, Adekemi M, Gerkes, Erica H, Stegmann, Alexander Pa, López-Martín, Estrella, Bermejo-Sánchez, Eva, Martínez-Delgado, Beatriz, Zweier, Christiane, Kraus, Cornelia, Popp, Bernt, Strehlow, Vincent, Gräfe, Daniel, Knerr, Ina, Jones, Eppie R, Zamuner, Stefano, Abriata, Luciano A, Kunnathully, Vidya, Moeller, Brandon E, Vocat, Anthony, Rommelaere, Samuel, Bocquete, Jean-Philippe, Ruchti, Evelyne, Limoni, Greta, Van Campenhoudt, Marine, Bourgeat, Samuel, Henklein, Petra, Gilissen, Christian, van Bon, Bregje W, Pfundt, Rolph, Willemsen, Marjolein H, Schieving, Jolanda H, Leonardi, Emanuela, Soli, Fiorenza, Murgia, Alessandra, Guo, Hui, Zhang, Qiumeng, Xia, Kun, Fagerberg, Christina R, Beier, Christoph P, Larsen, Martin J, Valenzuela, Irene, Fernández-Álvarez, Paula, Xiong, Shiyi, Śmigiel, Robert, López-González, Vanesa, Armengol, Lluís, Morleo, Manuela, Selicorni, Angelo, Torella, Annalaura, Blyth, Moira, Cooper, Nicola S, Wilson, Valerie, Oegema, Renske, Herenger, Yvan, Garde, Aurore, Bruel, Ange-Line, Tran Mau-Them, Frederic, Maddocks, Alexis Br, Bain, Jennifer M, Bhat, Musadiq A, Costain, Gregory, Kannu, Peter, Marwaha, Ashish, Champaigne, Neena L, Friez, Michael J, Richardson, Ellen B, Gowda, Vykuntaraju K, Srinivasan, Varunvenkat M, Gupta, Yask, Lim, Tze Y, Sanna-Cherchi, Simone, Lemaitre, Bruno, Yamaji, Toshiyuki, Hanada, Kentaro, Burke, John E, Jakšić, Ana Marija, McCabe, Brian D, De Los Rios, Paolo, Hornemann, Thorsten, D'Angelo, Giovanni, Gennarino, Vincenzo A

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A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis von de Boer, Elke, Ockeloen, Charlotte W., Matalonga, Leslie, Horvath, Rita, Rodenburg, Richard J., Coenen, Marieke J. H., Janssen, Mirian, Henssen, Dylan, Gilissen, Christian, Steyaert, Wouter, Paramonov, Ida, Trimouille, Aurelien, Kleefstra, Tjitske, Verloes, Alain, Vissers, Lisenka E. L. M.

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Hyperkinetic Movement Disorder Caused by the Recurrent c. 892C >T NACC1 Variant von Komulainen‐Ebrahim, Jonna, Kangas, Salla M., López‐Martín, Estrella, Feyma, Timothy, Scaglia, Fernando, Martínez‐Delgado, Beatriz, Kuismin, Outi, Suo‐Palosaari, Maria, Carr, Lucinda, Hinttala, Reetta, Kurian, Manju A., Uusimaa, Johanna

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Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis von de Boer, Elke, Ockeloen, Charlotte W, Matalonga, Leslie, Horvath, Rita, Rodenburg, Richard J, Coenen, Marieke J H, Janssen, Mirian, Henssen, Dylan, Gilissen, Christian, Steyaert, Wouter, Paramonov, Ida, Trimouille, Aurélien, Kleefstra, Tjitske, Verloes, Alain, Vissers, Lisenka E L M

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Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum von Urreizti, Roser, López Martín, Estrella, Martínez Monseny, Antonio Federico, Pujadas, Montse, Castilla-Vallmanya, Laura, Pérez Jurado, Luis Alberto, Serrano, Mercedes L, Natera de Benito, Daniel, Martínez Delgado, Beatriz, Posada de la Paz, Manuel, Alonso, Javier, Marín Reina, Purificación, O'Callaghan, Mar, Grinberg, Daniel, Bermejo Sánchez, Eva, Balcells, Susana

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Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum von Urreizti, Roser, López-Martin, Estrella, Martínez-Monseny, Antonio, Pujadas, Montse, Castilla-Vallmanya, Laura, Pérez-Jurado, Luis Alberto, Serrano, Mercedes, Natera de Benito, Daniel, Martínez-Delgado, Beatriz, Posada-de-la-Paz, Manuel, Alonso, Javier, Marin-Reina, Purificación, O'Callaghan, Mar, Grinberg Vaisman, Daniel Raúl, Bermejo-Sánchez, Eva, Balcells Comas, Susana

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Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant von Komulainen-Ebrahim, Jonna, Kangas, Salla M, López-Martín, Estrella, Feyma, Timothy, Scaglia, Fernando, Martínez-Delgado, Beatriz, Kuismin, Outi, Suo-Palosaari, Maria, Carr, Lucinda, Hinttala, Reetta, Kurian, Manju A, Uusimaa, Johanna

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CERT1 mutations perturb human development by disrupting sphingolipid homeostasis von Gehin, Charlotte, Lone, Museer A, Lee, Winston, Capolupo, Laura, Ho, Sylvia, Adeyemi, Adekemi M, Gerkes, Erica H, Stegmann, Alexander Pa, López-Martín, Estrella, Bermejo-Sánchez, Eva, Martínez-Delgado, Beatriz, Zweier, Christiane, Kraus, Cornelia, Popp, Bernt, Strehlow, Vincent, Gräfe, Daniel, Knerr, Ina, Jones, Eppie R, Zamuner, Stefano, Abriata, Luciano A, Kunnathully, Vidya, Moeller, Brandon E, Vocat, Anthony, Rommelaere, Samuel, Bocquete, Jean-Philippe, Ruchti, Evelyne, Limoni, Greta, Van Campenhoudt, Marine, Bourgeat, Samuel, Henklein, Petra, Gilissen, Christian, van Bon, Bregje W, Pfundt, Rolph, Willemsen, Marjolein H, Schieving, Jolanda H, Leonardi, Emanuela, Soli, Fiorenza, Murgia, Alessandra, Guo, Hui, Zhang, Qiumeng, Xia, Kun, Fagerberg, Christina R, Beier, Christoph P, Larsen, Martin J, Valenzuela, Irene, Fernández-Álvarez, Paula, Xiong, Shiyi, Śmigiel, Robert, López-González, Vanesa, Armengol, Lluís, Morleo, Manuela, Selicorni, Angelo, Torella, Annalaura, Blyth, Moira, Cooper, Nicola S, Wilson, Valerie, Oegema, Renske, Herenger, Yvan, Garde, Aurore, Bruel, Ange-Line, Tran Mau-Them, Frederic, Maddocks, Alexis Br, Bain, Jennifer M, Bhat, Musadiq A, Costain, Gregory, Kannu, Peter, Marwaha, Ashish, Champaigne, Neena L, Friez, Michael J, Richardson, Ellen B, Gowda, Vykuntaraju K, Srinivasan, Varunvenkat M, Gupta, Yask, Lim, Tze Y, Sanna-Cherchi, Simone, Lemaitre, Bruno, Yamaji, Toshiyuki, Hanada, Kentaro, Burke, John E, Jakšić, Ana Marjia, McCabe, Brian D, De Los Rios, Paolo, Hornemann, Thorsten, D'Angelo, Giovanni, Gennarino, Vincenzo A

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The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases von Laurie, Steven, Piscia, Davide, Matalonga, Leslie, Corvó, Alberto, Fernández-Callejo, Marcos, Garcia-Linares, Carles, Hernandez-Ferrer, Carles, Luengo, Cristina, Martínez, Inés, Papakonstantinou, Anastasios, Picó-Amador, Daniel, Protasio, Joan, Thompson, Rachel, Tonda, Raul, Bayés, Mònica, Bullich, Gemma, Camps-Puchadas, Jordi, Paramonov, Ida, Trotta, Jean-Rémi, Alonso, Angel, Attimonelli, Marcella, Béroud, Christophe, Bros-Facer, Virginie, Buske, Orion J, Cañada-Pallarés, Andrés, Fernández, José M, Hansson, Mats G, Horvath, Rita, Jacobsen, Julius OB, Kaliyaperumal, Rajaram, Lair-Préterre, Séverine, Licata, Luana, Lopes, Pedro, López-Martín, Estrella, Mascalzoni, Deborah, Monaco, Lucia, Pérez-Jurado, Luis A, Posada de la Paz, Manuel, Rambla, Jordi, Rath, Ana, Riess, Olaf, Robinson, Peter N, Salgado, David, Smedley, Damian, Spalding, Dylan, t Hoen, Peter AC, Töpf, Ana, Zaharieva, Irina, Graessner, Holm, Gut, Ivo G, Lochmüller, Hanns, Beltran, Sergi

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Propuestas para el Plan Nacional de Salud y Medio Ambiente von José María Ordóñez Iriarte, Estrella López Martín, Emiliano Aránguez Ruiz

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Prevalencia de parasitosis intestinal y asociación con manifestaciones clínicas en pacientes de Yucatán von Luz Mendoza Hernández, Lía Neftalí Azcorra Martín, Adrián Adolfo Estrella Medina, María E. López Novelo, Adrián A. Ceballos López, Igrid García González, Sandra

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Development of plastic-degrading microbial consortia by induced selection in microcosms von Salinas, Jesús, Carpena, Víctor, Martínez-Gallardo, María R, Segado, Martín, Estrella-González, María J, Toribio, Ana J, Jurado, Macarena M, López-González, Juan A, Suárez-Estrella, Francisca, López, María J

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Combustion at the late Early Pleistocene site of Cueva Negra del Estrecho del Río Quípar (Murcia, Spain) von Walker, M.J, Anesin, D, Angelucci, D.E, Aviles-Fernandez, A, Berna, F, Buitrago-Lopez, A.T, Fernandez-Jalvo, Y, Haber-Uriarte, M, Lopez-Jimenez, A, Lopez-Martinez, M, Martin-Lerma, I, Ortega-Rodriganez, J, Polo-Camacho, J.-L, Rhodes, S.E, Richter, D, Rodriguez-Estrella, T, Schwenninger, J.-L, Skinner, A.R

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Infection fatality risk for SARS-CoV-2 in community dwelling population of Spain: nationwide seroepidemiological study von Pastor-Barriuso, Roberto, Pérez-Gómez, Beatriz, Hernán, Miguel A, Pérez-Olmeda, Mayte, Yotti, Raquel, Oteo-Iglesias, Jesús, Sanmartín, Jose L, León-Gómez, Inmaculada, Fernández-García, Aurora, Fernández-Navarro, Pablo, Cruz, Israel, Martín, Mariano, Delgado-Sanz, Concepción, Fernández de Larrea, Nerea, León Paniagua, Jose, Muñoz-Montalvo, Juan F, Blanco, Faustino, Larrauri, Amparo, Pollán, Marina

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Molecular identification, antifungal resistance and virulence of Cryptococcus neoformans and Cryptococcus deneoformans isolated in Seville, Spain von Gago, Sara, Serrano, Carmen, Alastruey‐Izquierdo, Ana, Cuesta, Isabel, Martín‐Mazuelos, Estrella, Aller, Ana Isabel, Gómez‐López, Alicia, Mellado, Emilia

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