Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathy von Raggio, Víctor, Graña, Martín, Winiarski, Erik, Mansilla, Santiago, Simoes, Camila, Rodríguez, Soledad, Brandes, Mariana, Tapié, Alejandra, Rodríguez, Laura, Cibils, Lucía, Alonso, Martina, Martínez, Jennyfer, Fernández-Calero, Tamara, Domínguez, Fernanda, Mezquida, Melania Rosas, Castro, Laura, Cerisola, Alfredo, Naya, Hugo, Cassina, Adriana, Quijano, Celia, Spangenberg, Lucía

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Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease von Raggio, Víctor, Dell'Oca, Nicolas, Simoes, Camila, Tapié, Alejandra, Medici, Conrado, Costa, Gonzalo, Rodriguez, Soledad, Greif, Gonzalo, Garrone, Estefania, Rovella, María Laura, Gonzalez, Virgina, Halty, Margarita, González, Gabriel, Shin, Jong-Yeon, Shin, Sang-Yoon, Kim, Changhoon, Seo, Jeong-Sun, Graña, Martin, Naya, Hugo, Spangenberg, Lucia

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Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case report von Simoes, Camila, Graéa, Martín, Rodriguez, Soledad, Baltar Yanes, Federico, Tapié, Alejandra, Dell'Oca, Nicolás, Naya, Hugo, Raggio, Víctor, Spangenberg, Lucía

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Advances in the identification of the aetiology of mental retardation von González, Gabriel, Raggio, Víctor, Boidi, María, Tapié, Alejandra, Roche, Leda

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Two compound heterozygous variants in the CLN8 gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report von Baltar, Federico, Simoes, Camila, Garagorry, Francisco, Graña, Martín, Rodríguez, Soledad, Haydée Aunchayna, María, Tapié, Alejandra, Cerisola, Alfredo, González, Gabriel, Naya, Hugo, Spangenberg, Lucía, Raggio, Víctor

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Fibrodysplasia ossificans progressiva in a 3-year-old female patient von Cecilia Moreira, Gabriel Dapueto, Gabriel Peluffo, Alejandra Vomero, Alejandra Tapié, Soledad Rodríguez, Victor Raggio, Rodrigo Suárez, Gustavo Giachetto, Loreley García

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Deep sequencing discovery of causal mtDNA mutations in a patient with unspecific neurological disease von Spangenberg, Lucía, Graña, Martín, Mansilla, Santiago, Martínez, Jennyfer, Tapié, Alejandra, Greif, Gonzalo, Montano, Nélida, Vaglio, Alicia, Gueçaimburú, Rosario, Robello, Carlos, Castro, Laura, Quijano, Celia, Raggio, Victor, Naya, Hugo

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Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause von Spangenberg, Lucía, Guecaimburú, Rosario, Tapié, Alejandra, Vivas, Susana, Rodríguez, Soledad, Graña, Martín, Naya, Hugo, Raggio, Víctor

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3697G>A in MT-ND1 is a causative mutation in mitochondrial disease von Spangenberg, Lucía, Graña, Martín, Greif, Gonzalo, Suarez-Rivero, Juan M, Krysztal, Karina, Tapié, Alejandra, Boidi, María, Fraga, Valeria, Lemes, Aída, Gueçaimburú, Rosario, Cerisola, Alfredo, Sánchez-Alcázar, José A, Robello, Carlos, Raggio, Victor, Naya, Hugo

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A novel mutation in the OAR domain of the ARX gene von Tapie, Alejandra, Pi‐Denis, Natalia, Souto, Jorge, Vomero, Alejandra, Peluffo, Gabriel, Boidi, María, Ciganda, Martín, Curbelo, Nicolás, Raggio, Victor, Roche, Leda, Pastro, Lucía

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Estudio descriptivo de pacientes con patología genética en una unidad de cuidados intensivos pediátricos von Moraes, Mariana, Rodríguez, Soledad, Tapié, Alejandra, Fernández, Alicia, Raggio, Víctor

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Avances en la identificación etiológica del retraso mental von González Rabelino, Gabriel, Raggio Risso, Víctor, Boidi Hernández, María, Tapié Nicolini, Alejandra, Roche Lowezy, Leda

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Retinosquisis ligada al cromosoma X von Ana Batalla, Soledad Rodríguez, Alejandra Tapié, Salomón Saúl, Víctor Raggio

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Fibrodysplasia ossificans progressiva in a 3-year-old female patient von Moreira, Cecilia, Dapueto, Gabriel, Peluffo, Gabriel, Vomero, Alejandra, Tapié, Alejandra, Rodríguez, Soledad, Raggio, Victor, Suárez, Rodrigo, Giachetto, Gustavo, García, Loreley

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A novel mutation in the OAR domain of the ARX gene von Tapie, Alejandra, Pi-Denis, Natalia, Souto, Jorge, Vomero, Alejandra, Peluffo, Gabriel, Boidi, María, Ciganda, Martín, Curbelo, Nicolás, Raggio, Victor, Roche, Leda, Pastro, Lucía

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Two compound heterozygous variants in the CLN8 gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report von Baltar, Federico, Simoes, Camila, Garagorry, Francisco, Graña, Martín, Rodríguez, Soledad, Haydée Aunchayna, María, Tapié, Alejandra, Cerisola, Alfredo, González, Gabriel, Naya, Hugo, Spangenberg, Lucía, Raggio, Víctor

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Additional file 1 of Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopat... von Raggio, Víctor, Graña, Martín, Winiarski, Erik, Mansilla, Santiago, Simoes, Camila, Rodríguez, Soledad, Brandes, Mariana, Tapié, Alejandra, Rodríguez, Laura, Cibils, Lucía, Alonso, Martina, Martínez, Jennyfer, Fernández-Calero, Tamara, Domínguez, Fernanda, Mezquida, Melania Rosas, Castro, Laura, Cerisola, Alfredo, Naya, Hugo, Cassina, Adriana, Quijano, Celia, Spangenberg, Lucía

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Additional file 2 of Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopat... von Raggio, Víctor, Graña, Martín, Winiarski, Erik, Mansilla, Santiago, Simoes, Camila, Rodríguez, Soledad, Brandes, Mariana, Tapié, Alejandra, Rodríguez, Laura, Cibils, Lucía, Alonso, Martina, Martínez, Jennyfer, Fernández-Calero, Tamara, Domínguez, Fernanda, Mezquida, Melania Rosas, Castro, Laura, Cerisola, Alfredo, Naya, Hugo, Cassina, Adriana, Quijano, Celia, Spangenberg, Lucía

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Additional file 3 of Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopat... von Raggio, Víctor, Graña, Martín, Winiarski, Erik, Mansilla, Santiago, Simoes, Camila, Rodríguez, Soledad, Brandes, Mariana, Tapié, Alejandra, Rodríguez, Laura, Cibils, Lucía, Alonso, Martina, Martínez, Jennyfer, Fernández-Calero, Tamara, Domínguez, Fernanda, Mezquida, Melania Rosas, Castro, Laura, Cerisola, Alfredo, Naya, Hugo, Cassina, Adriana, Quijano, Celia, Spangenberg, Lucía

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Additional file 4 of Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopat... von Raggio, Víctor, Graña, Martín, Winiarski, Erik, Mansilla, Santiago, Simoes, Camila, Rodríguez, Soledad, Brandes, Mariana, Tapié, Alejandra, Rodríguez, Laura, Cibils, Lucía, Alonso, Martina, Martínez, Jennyfer, Fernández-Calero, Tamara, Domínguez, Fernanda, Mezquida, Melania Rosas, Castro, Laura, Cerisola, Alfredo, Naya, Hugo, Cassina, Adriana, Quijano, Celia, Spangenberg, Lucía

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