Hearing is normal without connexin30 von Boulay, Anne-Cécile, del Castillo, Francisco J, Giraudet, Fabrice, Hamard, Ghislaine, Giaume, Christian, Petit, Christine, Avan, Paul, Cohen-Salmon, Martine

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DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes von Del Castillo, Francisco J, Del Castillo, Ignacio

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Development and validation of a sequential two-step algorithm for the screening of individuals with potential polycythaemia vera von Piris-Villaespesa, Miguel, Álvarez-Larrán, Alberto, Saez-Marín, Adolfo, Nuñez-Torrón, Claudia, Muñoz-Martin, Gloria, Sánchez, Ricardo, del Castillo, Francisco J., Villarrubia, Jesús, Lopez-Jimenez, Javier, Martinez-Lopez, Joaquin, Garcia-Gutierrez, Valentin

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A novel splice-site mutation in the GJB2 gene causing mild postlingual hearing impairment von Gandía, Marta, Del Castillo, Francisco J, Rodríguez-Álvarez, Francisco J, Garrido, Gema, Villamar, Manuela, Calderón, Manuela, Moreno-Pelayo, Miguel A, Moreno, Felipe, del Castillo, Ignacio

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A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study von Domínguez-Ruiz, María, Murillo-Cuesta, Silvia, Contreras, Julio, Cantero, Marta, Garrido, Gema, Martín-Bernardo, Belén, Gómez-Rosas, Elena, Fernández, Almudena, Del Castillo, Francisco J, Montoliu, Lluís, Varela-Nieto, Isabel, Del Castillo, Ignacio

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The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment von del Castillo, Francisco J, del Castillo, Ignacio

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A Deletion Involving the Connexin 30 Gene in Nonsyndromic Hearing Impairment von del Castillo, Francisco J, del Castillo, Ignacio, Villamar, Manuela, Moreno-Pelayo, Miguel A, Álvarez, Araceli, Tellería, Dolores, Menéndez, Ibis, Moreno, Felipe

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Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment von SCHRADERS, Margit, RUIZ-PALMERO, Laura, OONK, Anne M. M, KUNST, Henricus P. M, DOMINGUEZ-RUIZ, Maria, GARCIA-ARUMI, Ana M, DEL CAMPO, Miguel, VILLAMAR, Manuela, HOEFSLOOT, Lies H, MORENO, Felipe, ADMIRAAL, Ronald J. C, DEL CASTILLO, Ignacio, KALAY, Ersan, KREMER, Hannie, OOSTRIK, Jaap, DEL CASTILLO, Francisco J, SEZGIN, Orhan, BEYNON, Andy J, STROM, Tim M, PENNINGS, Ronald J. E, CELIA ZAZO SECO

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Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy von Lathrop, Mark, Van Camp, Guy, Michel, Vincent, del Castillo, Francisco J, Leibovici, Michel, Delmaghani, Sedigheh, Ron, Uri, Petit, Christine, Langa, Francina, Weil, Dominique, Ben-Tal, Nir, Aghaie, Asadollah, Van Laer, Lut, Avan, Paul

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Genetics of isolated auditory neuropathies von Del Castillo, Francisco J, Del Castillo, Ignacio

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Genotyping of the rs1800440 Polymorphism in CYP1B1 Gene and the rs9258883 Polymorphism in HLA-B Gene in a Spanish Cohort of 223 Patients with Frontal Fibrosing Alopecia von Saceda-Corralo, David, Ortega-Quijano, Daniel, Muñoz-Martín, Gloria, Moreno-Arrones, Óscar M., Pindado-Ortega, Cristina, Rayinda, Tuntas, Melián-Olivera, Ana, Azcárraga-Llobet, Carlos, Burgos-Blasco, Patricia, Castañeda-Bermúdez, María Elena, Del Castillo, Francisco J., Vañó-Galván, Sergio

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Prevalence and Evolutionary Origins of the del( GJB6-D13S1830) Mutation in the DFNB1 Locus in Hearing-Impaired Subjects: a Multicenter Study von del Castillo, Ignacio, Moreno-Pelayo, Miguel A., del Castillo, Francisco J., Brownstein, Zippora, Marlin, Sandrine, Adina, Quint, Cockburn, David J., Pandya, Arti, Siemering, Kirby R., Chamberlin, G. Parker, Ballana, Ester, Wuyts, Wim, Maciel-Guerra, Andréa Trevas, Álvarez, Araceli, Villamar, Manuela, Shohat, Mordechai, Abeliovich, Dvorah, Dahl, Hans-Henrik M., Estivill, Xavier, Gasparini, Paolo, Hutchin, Tim, Nance, Walter E., Sartorato, Edi L., Smith, Richard J.H., Van Camp, Guy, Avraham, Karen B., Petit, Christine, Moreno, Felipe

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Novel Pathogenic Variants in the Gene Encoding Stereocilin ( STRC ) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects von Domínguez-Ruiz, María, Ruiz-Palmero, Laura, Buonfiglio, Paula I, García-Vaquero, Irene, Gómez-Rosas, Elena, Goñi, Marina, Villamar, Manuela, Morín, Matías, Moreno-Pelayo, Miguel A, Elgoyhen, Ana B, Del Castillo, Francisco J, Dalamón, Viviana, Del Castillo, Ignacio

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Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling von Gandía, Marta, Fernández-Toral, Joaquín, Solanellas, Juan, Domínguez-Ruiz, María, Gómez-Rosas, Elena, del Castillo, Francisco J., Villamar, Manuela, Moreno-Pelayo, Miguel A., del Castillo, Ignacio

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Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF) von Rodríguez-Ballesteros, Montserrat, del Castillo, Francisco J., Martín, Yolanda, Moreno-Pelayo, Miguel A., Morera, Constantino, Prieto, Félix, Marco, Jaime, Morant, Antonio, Gallo-Terán, Jaime, Morales-Angulo, Carmelo, Navas, Cristina, Trinidad, Germán, Tapia, M. Cruz, Moreno, Felipe, Castillo, Ignacio del

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Consortin, a trans-Golgi network cargo receptor for the plasma membrane targeting and recycling of connexins von del Castillo, Francisco J., Cohen-Salmon, Martine, Charollais, Anne, Caille, Dorothée, Lampe, Paul D., Chavrier, Philippe, Meda, Paolo, Petit, Christine

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Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study von Stanescu, Sinziana, Correcher Medina, Patricia, del Castillo, Francisco J, Alonso Luengo, Olga, Arto Millan, Luis Maria, Belanger Quintana, Amaya, Camprodon Gomez, Maria, Diez Langhetée, Lydia, Garcia Campos, Oscar, Matas Garcia, Ana, Perez-Moreno, Jimena, Rubio Gribble, Barbara, Visa-Reñé, Nuria, Giraldo-Castellano, Pilar, O’Callaghan Gordo, Mar

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Correction: A Novel Splice-Site Mutation in the GJB2 Gene Causing Mild Postlingual Hearing Impairment von Gandía, Marta, del Castillo, Francisco J., Rodríguez-Álvarez, Francisco J., Garrido, Gema, Villamar, Manuela, Calderón, Manuela, Moreno-Pelayo, Miguel A., Moreno, Felipe, del Castillo, Ignacio

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Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families von Sánchez-Alcudia, Rocío, Cortón, Marta, Ávila-Fernández, Almudena, Zurita, Olga, Tatu, Sorina D, Pérez-Carro, Raquel, Fernandez-San Jose, Patricia, Lopez-Martinez, Miguel Ángel, del Castillo, Francisco J, Millan, Jose M, Blanco-Kelly, Fiona, García-Sandoval, Blanca, Lopez-Molina, Maria Isabel, Riveiro-Alvarez, Rosa, Ayuso, Carmen

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Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next‐generation sequencing gene panel von Muñoz, Gloria, García‐Seisdedos, David, Ciubotariu, Crina, Piris‐Villaespesa, Miguel, Gandía, Marta, Martín‐Moro, Fernando, Gutiérrez‐Solana, Luis G., Morado, Marta, López‐Jiménez, Javier, Sánchez‐Herranz, Antonio, Villarrubia, Jesús, Castillo, Francisco J.

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