Expanding the phenotype of the X-linked BCOR microphthalmia syndromes
Ragge, Nicola, Isidor, Bertrand, Bitoun, Pierre, Odent, Sylvie, Giurgea, Irina, Cogné, Benjamin, Deb, Wallid, Vincent, Marie, Le Gall, Jessica, Morton, Jenny, Lim, Derek, Le Meur, Guylène, Zazo Seco, Celia, Zafeiropoulou, Dimitra, Bax, Dorine, Zwijnenburg, Petra, Arteche, Anara, Swafiri, Saoud Tahsin, Cleaver, Ruth, McEntagart, Meriel, Kini, Usha, Newman, William, Ayuso, Carmen, Corton, Marta, Herenger, Yvan, Jeanne, Médéric, Calvas, Patrick, Chassaing, Nicolas
Published in Human genetics (01.09.2019)
Published in Human genetics (01.09.2019)
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Journal Article
Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders
Martinez-Granero, Francisco, Blanco-Kelly, Fiona, Sanchez-Jimeno, Carolina, Avila-Fernandez, Almudena, Arteche, Ana, Bustamante-Aragones, Ana, Rodilla, Cristina, Rodríguez-Pinilla, Elvira, Riveiro-Alvarez, Rosa, Tahsin-Swafiri, Saoud, Trujillo-Tiebas, Maria Jose, Ayuso, Carmen, Rodríguez de Alba, Marta, Lorda-Sanchez, Isabel, Almoguera, Berta
Published in Npj genomic medicine (25.03.2021)
Published in Npj genomic medicine (25.03.2021)
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Journal Article
A renal hyperechogenicity study: From the phenotype to the genotype in the mutation of hepatocyte nuclear factor-1 beta gene
Hernández, Pilar Ribes, Molina, Adoración Granados, Pérez, Alicia García, Swafiri, Saoud Tahsin, Carbajo, Esther Pérez
Published in Anales de Pediatría (01.05.2019)
Published in Anales de Pediatría (01.05.2019)
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Journal Article
Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia
Tarilonte, Maria, Ramos, Patricia, Moya, Jennifer, Fernandez-Sanz, Guilermo, Blanco-Kelly, Fiona, Swafiri, Saoud Tahsin, Villaverde, Cristina, Romero, Raquel, Tamayo, Alejandra, Gener, Blanca, Calvas, Patrick, Ayuso, Carmen, Corton, Marta
Published in Journal of medical genetics (01.05.2022)
Published in Journal of medical genetics (01.05.2022)
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Journal Article
RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients
Lopez-Rodriguez, Rosario, Lantero, Esther, Blanco-Kelly, Fiona, Avila-Fernandez, Almudena, Martin Merida, Inmaculada, del Pozo-Valero, Marta, Perea-Romero, Irene, Zurita, Olga, Jiménez-Rolando, Belén, Swafiri, Saoud Tahsin, Riveiro-Alvarez, Rosa, Trujillo-Tiebas, María José, Carreño Salas, Ester, García-Sandoval, Blanca, Corton, Marta, Ayuso, Carmen
Published in Experimental eye research (01.11.2021)
Published in Experimental eye research (01.11.2021)
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Journal Article
Genomic Landscape of Sporadic Retinitis Pigmentosa
Martin-Merida, Inmaculada, Avila-Fernandez, Almudena, Del Pozo-Valero, Marta, Blanco-Kelly, Fiona, Zurita, Olga, Perez-Carro, Raquel, Aguilera-Garcia, Domingo, Riveiro-Alvarez, Rosa, Arteche, Ana, Trujillo-Tiebas, Maria Jose, Tahsin-Swafiri, Saoud, Rodriguez-Pinilla, Elvira, Lorda-Sanchez, Isabel, Garcia-Sandoval, Blanca, Corton, Marta, Ayuso, Carmen
Published in Ophthalmology (Rochester, Minn.) (01.08.2019)
Published in Ophthalmology (Rochester, Minn.) (01.08.2019)
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Journal Article
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome
Perea-Romero, Irene, Solarat, Carlos, Blanco-Kelly, Fiona, Sanchez-Navarro, Iker, Bea-Mascato, Brais, Martin-Salazar, Eduardo, Lorda-Sanchez, Isabel, Swafiri, Saoud Tahsin, Avila-Fernandez, Almudena, Martin-Merida, Inmaculada, Trujillo-Tiebas, Maria Jose, Carreño, Ester, Jimenez-Rolando, Belen, Garcia-Sandoval, Blanca, Minguez, Pablo, Corton, Marta, Valverde, Diana, Ayuso, Carmen
Published in Npj genomic medicine (14.07.2022)
Published in Npj genomic medicine (14.07.2022)
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Journal Article
Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia
Tarilonte, María, Morín, Matías, Ramos, Patricia, Galdós, Marta, Blanco-Kelly, Fiona, Villaverde, Cristina, Rey-Zamora, Dolores, Rebolleda, Gema, Muñoz-Negrete, Francisco J, Tahsin-Swafiri, Saoud, Gener, Blanca, Moreno-Pelayo, Miguel-Angel, Ayuso, Carmen, Villamar, Manuela, Corton, Marta
Published in Frontiers in genetics (17.10.2018)
Published in Frontiers in genetics (17.10.2018)
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Journal Article
Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review
Pascual, Patricia, Tenorio-Castano, Jair, Mignot, Cyril, Afenjar, Alexandra, Arias, Pedro, Gallego-Zazo, Natalia, Parra, Alejandro, Miranda, Lucia, Cazalla, Mario, Silván, Cristina, Heron, Delphine, Keren, Boris, Popa, Ioana, Palomares, María, Rikeros, Emi, Ramos, Feliciano J., Almoguera, Berta, Ayuso, Carmen, Swafiri, Saoud Tahsin, Barbero, Ana Isabel Sánchez, Srinivasan, Varunvenkat M., Gowda, Vykuntaraju K., Morleo, Manuela, Nigro, Vicenzo, D’Arrigo, Stefano, Ciaccio, Claudia, Martin Mesa, Carmen, Paumard, Beatriz, Guillen, Gema, Anton, Ana Teresa Serrano, Jimenez, Marta Domínguez, Seidel, Veronica, Suárez, Julia, Cormier-Daire, Valerie, Consortium, The SOGRI, Nevado, Julián, Lapunzina, Pablo
Published in Genes (23.08.2023)
Published in Genes (23.08.2023)
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Journal Article
Estudio de hiperecogenicidad renal: del fenotipo al genotipo en la mutación del gen del factor nuclear hepático1β
Ribes Hernández, Pilar, Granados Molina, Adoración, García Pérez, Alicia, Tahsin Swafiri, Saoud, Pérez Carbajo, Esther
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.05.2019)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.05.2019)
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Journal Article
A unique missense mutation in the RING domain impairs MID1 E3 ubiquitin ligase activity and localisation and is associated with uncommon Opitz Syndrome-like signs
Mascaro, Martina, D’Ambrosio, Luigi, Lazzari, Elisa, Almoguera, Berta, Swafiri, Saoud Tahsin, Zanchetta, Melania Eva, Meroni, Germana
Published in Biochimica et biophysica acta. Molecular basis of disease (01.04.2024)
Published in Biochimica et biophysica acta. Molecular basis of disease (01.04.2024)
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Journal Article
Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases
Martin-Merida, Inmaculada, Avila-Fernandez, Almudena, Del Pozo-Valero, Marta, Blanco-Kelly, Fiona, Zurita, Olga, Perez-Carro, Raquel, Aguilera-Garcia, Domingo, Riveiro-Alvarez, Rosa, Arteche, Ana, Trujillo-Tiebas, Maria Jose, Tahsin-Swafiri, Saoud, Rodriguez-Pinilla, Elvira, Lorda-Sanchez, Isabel, Garcia-Sandoval, Blanca, Corton, Marta, Ayuso, Carmen
Published in Ophthalmology (Rochester, Minn.) (01.08.2019)
Published in Ophthalmology (Rochester, Minn.) (01.08.2019)
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Journal Article
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
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
Published in Scientific reports (15.01.2021)
Published in Scientific reports (15.01.2021)
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Journal Article
Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability
Tatour, Yasmin, Sanchez-Navarro, Iker, Chervinsky, Elana, Hakonarson, Hakon, Gawi, Haithum, Tahsin-Swafiri, Saoud, Leibu, Rina, Lopez-Molina, Maria Isabel, Fernandez-Sanz, Guillermo, Ayuso, Carmen, Ben-Yosef, Tamar
Published in Journal of medical genetics (01.10.2017)
Published in Journal of medical genetics (01.10.2017)
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Journal Article
Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies
Rodilla, Cristina, Martín-Merida, Inmaculada, Blanco-Kelly, Fiona, Trujillo-Tiebas, María José, Avila-Fernandez, Almudena, Riveiro-Alvarez, Rosa, del Pozo-Valero, Marta, Perea-Romero, Irene, Swafiri, Saoud Tahsin, Zurita, Olga, Villaverde, Cristina, López, Miguel Ángel, Romero, Raquel, Iancu, Ionut Florin, Núñez-Moreno, Gonzalo, Jiménez-Rolando, Belén, Martin-Gutierrez, María Pilar, Carreño, Ester, Minguez, Pablo, García-Sandoval, Blanca, Ayuso, Carmen, Corton, Marta
Published in American journal of ophthalmology (01.10.2023)
Published in American journal of ophthalmology (01.10.2023)
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Journal Article
Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients
Martinez-Cayuelas, Elena, Blanco-Kelly, Fiona, Lopez-Grondona, Fermina, Swafiri, Saoud Tahsin, Lopez-Rodriguez, Rosario, Losada-Del Pozo, Rebeca, Mahillo-Fernandez, Ignacio, Moreno, Beatriz, Rodrigo-Moreno, Maria, Casas-Alba, Didac, Lopez-Gonzalez, Aitor, García-Miñaúr, Sixto, Ángeles Mori, Maria, Pacio-Minguez, Marta, Rikeros-Orozco, Emi, Santos-Simarro, Fernando, Cruz-Rojo, Jaime, Quesada-Espinosa, Juan Francisco, Sanchez-Calvin, Maria Teresa, Sanchez-del Pozo, Jaime, Bernado Fonz, Raquel, Isidoro-Garcia, Maria, Ruiz-Ayucar, Irene, Alvarez-Mora, Maria Isabel, Blanco-Lago, Raquel, De Azua, Begoña, Eiris, Jesus, Garcia-Peñas, Juan Jose, Gil-Fournier, Belen, Gomez-Lado, Carmen, Irazabal, Nadia, Lopez-Gonzalez, Vanessa, Madrigal, Irene, Malaga, Ignacio, Martinez-Menendez, Beatriz, Ramiro-Leon, Soraya, Garcia-Hoyos, Maria, Prieto-Matos, Pablo, Lopez-Pison, Javier, Aguilera-Albesa, Sergio, Alvarez, Sara, Fernández-Jaén, Alberto, Llano-Rivas, Isabel, Gener-Querol, Blanca, Ayuso, Carmen, Arteche-Lopez, Ana, Palomares-Bralo, Maria, Cueto-González, Anna, Valenzuela, Irene, Martinez-Monseny, Antonio, Lorda-Sanchez, Isabel, Almoguera, Berta
Published in Journal of medical genetics (01.07.2023)
Published in Journal of medical genetics (01.07.2023)
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Journal Article
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
Aerden, Mio, Denommé-Pichon, Anne-Sophie, Bonneau, Dominique, Bruel, Ange-Line, Delanne, Julian, Gérard, Bénédicte, Mazel, Benoît, Philippe, Christophe, Pinson, Lucile, Prouteau, Clément, Putoux, Audrey, Tran Mau-Them, Frédéric, Viora-Dupont, Éléonore, Vitobello, Antonio, Ziegler, Alban, Piton, Amélie, Isidor, Bertrand, Francannet, Christine, Maillard, Pierre-Yves, Julia, Sophie, Philippe, Anais, Schaefer, Elise, Koene, Saskia, Ruivenkamp, Claudia, Hoffer, Mariette, Legius, Eric, Theunis, Miel, Keren, Boris, Buratti, Julien, Charles, Perrine, Courtin, Thomas, Misra-Isrie, Mala, van Haelst, Mieke, Waisfisz, Quinten, Wieczorek, Dagmar, Schmetz, Ariane, Herget, Theresia, Kortüm, Fanny, Lisfeld, Jasmin, Debray, François-Guillaume, Bramswig, Nuria C, Atallah, Isis, Fodstad, Heidi, Jouret, Guillaume, Almoguera, Berta, Tahsin-Swafiri, Saoud, Santos-Simarro, Fernando, Palomares-Bralo, Maria, López-González, Vanesa, Kibaek, Maria, Tørring, Pernille M, Renieri, Alessandra, Bruno, Lucia Pia, Õunap, Katrin, Wojcik, Monica, Hsieh, Tzung-Chien, Krawitz, Peter, Van Esch, Hilde
Published in European journal of human genetics : EJHG (01.04.2023)
Published in European journal of human genetics : EJHG (01.04.2023)
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Journal Article
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies
Sanchez-Navarro, Iker, R. J. da Silva, Luciana, Blanco-Kelly, Fiona, Zurita, Olga, Sanchez-Bolivar, Noelia, Villaverde, Cristina, Lopez-Molina, Maria Isabel, Garcia-Sandoval, Blanca, Tahsin-Swafiri, Saoud, Minguez, Pablo, Riveiro-Alvarez, Rosa, Lorda, Isabel, Sanchez-Alcudia, Rocío, Perez-Carro, Raquel, Valverde, Diana, Liu, Yichuan, Tian, Lifeng, Hakonarson, Hakon, Avila-Fernandez, Almudena, Corton, Marta, Ayuso, Carmen
Published in Scientific reports (27.03.2018)
Published in Scientific reports (27.03.2018)
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Journal Article
Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
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
Published in Scientific reports (10.05.2021)
Published in Scientific reports (10.05.2021)
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Journal Article
Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in ICHD3/I and Literature Review
Pascual, Patricia, Tenorio-Castano, Jair, Mignot, Cyril, Afenjar, Alexandra, Arias, Pedro, Gallego-Zazo, Natalia, Parra, Alejandro, Miranda, Lucia, Cazalla, Mario, Silván, Cristina, Heron, Delphine, Keren, Boris, Popa, Ioana, Palomares, María, Rikeros, Emi, Ramos, Feliciano J, Almoguera, Berta, Ayuso, Carmen, Swafiri, Saoud Tahsin, Barbero, Ana Isabel Sánchez, Srinivasan, Varunvenkat M, Gowda, Vykuntaraju K, Morleo, Manuela, Nigro, Vicenzo, D’Arrigo, Stefano, Ciaccio, Claudia, Ma, Paumard, Beatriz, Guillen, Gema, Anton, Ana Teresa Serrano, Jimenez, Marta Domínguez, Seidel, Veronica, Suárez, Julia, Cormier-Daire, Valerie, Conso, Nevado, Julián, Lapunzina, Pablo
Published in Genes (01.08.2023)
Published in Genes (01.08.2023)
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Journal Article