Genetics and Genomics of SOST: Functional Analysis of Variants and Genomic Regulation in Osteoblasts von Martinez-Gil, Nuria, Roca-Ayats, Neus, Cozar, Monica, Garcia-Giralt, Natalia, Ovejero, Diana, Nogues, Xavier, Grinberg, Daniel, Balcells, Susanna

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Evolutionary and functional analyses of LRP5 in archaic and extant modern humans von Roca-Ayats, Neus, Maceda, Iago, Bruque, Carlos David, Martínez-Gil, Núria, Garcia-Giralt, Natàlia, Cozar, Mónica, Mellibovsky, Leonardo, Van Hul, Wim, Lao, Oscar, Grinberg, Daniel, Balcells, Susanna

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Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course von Setó-Salvia, Núria, Pagonabarraga, Javier, Houlden, Henry, Pascual-Sedano, Berta, Dols-Icardo, Oriol, Tucci, Arianna, Paisán-Ruiz, Coro, Campolongo, Antonia, Antón-Aguirre, Sofía, Martín, Inés, Muñoz, Laia, Bufill, Enric, Vilageliu, Lluïsa, Grinberg, Daniel, Cozar, Mónica, Blesa, Rafael, Lleó, Alberto, Hardy, John, Kulisevsky, Jaime, Clarimón, Jordi

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Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases von Gómez-Grau, Marta, Garrido, Elena, Cozar, Mónica, Rodriguez-Sureda, Víctor, Domínguez, Carmen, Arenas, Concepción, Gatti, Richard A, Cormand, Bru, Grinberg, Daniel, Vilageliu, Lluïsa

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Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece von Dimitriou, Evangelia, Moraitou, Marina, Cozar, Mónica, Serra-Vinardell, Jenny, Vilageliu, Lluïsa, Grinberg, Daniel, Mavridou, Irene, Michelakakis, Helen

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Functional Characterization of a GGPPS Variant Identified in Atypical Femoral Fracture Patients and Delineation of the Role of GGPPS in Bone‐Relevant Cell Types von Roca‐Ayats, Neus, Ng, Pei Ying, Garcia‐Giralt, Natàlia, Falcó‐Mascaró, Maite, Cozar, Mónica, Abril, Josep Francesc, Quesada Gómez, José Manuel, Prieto‐Alhambra, Daniel, Nogués, Xavier, Dunford, James E, Russell, R Graham, Baron, Roland, Grinberg, Daniel, Balcells, Susana, Díez‐Pérez, Adolfo

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Functional characterization of the C7ORF76 genomic region, a prominent GWAS signal for osteoporosis in 7q21.3 von Roca-Ayats, Neus, Martínez-Gil, Núria, Cozar, Mónica, Gerousi, Marina, Garcia-Giralt, Natàlia, Ovejero, Diana, Mellibovsky, Leonardo, Nogués, Xavier, Díez-Pérez, Adolfo, Grinberg, Daniel, Balcells, Susanna

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EXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndrome von Canals, Isaac, Benetó, Noelia, Cozar, Mónica, Vilageliu, Lluïsa, Grinberg, Daniel

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Characterisation of two deletions involving NPC1 and flanking genes in Niemann–Pick Type C disease patients von Rodríguez-Pascau, Laura, Toma, Claudio, Macías-Vidal, Judit, Cozar, Mónica, Cormand, Bru, Lykopoulou, Lilia, Coll, Maria Josep, Grinberg, Daniel, Vilageliu, Lluïsa

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Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients von Cozar, Mónica, Urreizti, Roser, Vilarinho, Laura, Grosso, Carola, Dodelson de Kremer, Raquel, Asteggiano, Carla G., Dalmau, Jaime, García, Ana María, Vilaseca, María Antonia, Grinberg, Daniel, Balcells, Susana

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Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome von Benetó, Noelia, Cozar, Monica, Gort, Laura, Pacheco, Laura, Vilageliu, Lluïsa, Grinberg, Daniel, Canals, Isaac

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Double mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostoses von Cammarata-Scalisi, Francisco, Cozar, Mónica, Grinberg, Daniel, Balcells, Susana, Asteggiano, Carla G, Martínez-Domenech, Gustavo, Bracho, Ana, Sánchez, Yanira, Stock, Frances, Delgado-Luengo, Wilmer, Zara-Chirinos, Carmen, Chacín, José Antonio

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Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations von Urreizti, Roser, Asteggiano, Carla, Cozar, Mónica, Frank, Nina, Vilaseca, María Antonia, Grinberg, Daniel, Balcells, Susana

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Evaluation of previous substance dependence genome-wide significant findings in a Spanish sample von Pineda-Cirera, Laura, Cabana-Domínguez, Judit, Roncero, Carlos, Cozar, Mònica, Grau-López, Lara, Abad, Alfonso C., Martínez-Luna, Nieves, Robles-Martínez, María, Sánchez-Mora, Cristina, Ramos-Quiroga, Josep Antoni, Casas, Miquel, Ribasés, Marta, Fernàndez-Castillo, Noèlia, Cormand, Bru

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On the association between Chiari malformation type 1, bone mineral density and bone related genes von Martínez-Gil, Núria, Mellibovsky, Leonardo, Manzano-López González, Demián, Patiño, Juan David, Cozar, Monica, Rabionet, Raquel, Grinberg, Daniel, Balcells, Susanna

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Genetics and Genomics of SOST: functional analysis of variants and genomic regulation in osteoblasts von Martínez-Gil, Núria, Roca Ayats, Neus, Cozar, Mónica, Garcia Giralt, Natàlia, Ovejero, Diana, Nogués Solán, Xavier, Grinberg Vaisman, Daniel Raúl, Balcells Comas, Susana

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Functional characterization of the C7ORF76 genomic region, a prominent GWAS signal for osteoporosis in 7q21.3 von Roca Ayats, Neus, Martínez-Gil, Núria, Cozar, Mónica, Gerousi, Marina, Garcia Giralt, Natàlia, Ovejero, Diana, Mellibovsky, Leonardo, Nogués Solán, Xavier, Díez Pérez, Adolfo, Grinberg Vaisman, Daniel Raúl, Balcells Comas, Susana

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CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative von Luque, Juan, Webb, Susan M., Aguado, Carmen, Almoguera, Berta, Arjona, Emi, Masó, Anna Aulinas, Badell, Isabel, Baiget, Montserrat, Benito Sanz, Sara, Borralleras, Cristina, Borrego, Salud, Bou de Pieri, Francesc, Cámara, Yolanda, Camats‐Tarruella, Núria, Cantarero, Lara, Caparrós‐Martín, JoséAntonio, Casado, Mercedes, Cascón, Alberto, Catala, Albert, Cediel, Rafael, Cervera, Javier, Contreras, Julio, Cormand, Bru, Corral, Javier, Corton, Marta, Costa‐Roger, Mar, Crispi, Fátima, Cuezva, JoséM., Dalmau, Josep, Luna, Susana, del Castillo, Ignacio, Del Pozo, Ángela, del Río, Marcela, Escámez, María José, Fernández‐Cancio, Mónica, Fernández‐San Jose, Patricia, Gallardo, Eduard, García‐Redondo, Alberto, Teresa García‐Silva, M., García‐Villoria, Judit, García Santiago, Fe, Garrido, Gema, Giroud‐Gerbetant, Judith, Gonzalez‐Cabo, Pilar, Gonzalez‐Casacuberta, Ingrid, González‐Quintana, Adrián, Gort, Laura, Herreras, Enrique, Jimenez‐Mallebrera, Cecilia, Luz Juarez‐Flores, Diana, Lapunzina, Pablo, López‐Laso, Eduardo, López de Heredia, Miguel, Lorda‐Sanchez, Isabel, Luque, Juan, Marfany, Gemma, Martí, Ramón, Martin, Yolanda, Martin‐Merida, Inmaculada, Martinez‐Delgado, Beatriz, Carmen Martínez‐Romero, María, Millán, JoséM., Molla, Belén, Moltó, Eduardo, Montero, Raquel, Montoliu, Lluis, Moreno, JoséCarlos, A Mori, María, Morte, Beatriz, Muñoz‐Pujol, Gerard, Murillo‐Cuesta, Silvia, Navarro, Susana, Navas, Plácido, Ángela Nieto, M., O′Callaghan, Mar, Olavarrieta, Leticia, Ormazabal, Aida, Ortiz‐Romero, Paula, Osorio, Ana, Palencia‐Campos, Adrián, Pie, Juan, Pinto, Sheila, Ranea, Juan A.G., Reina‐Castillón, Judith, Robledo, Mercedes, Carlos Rodriguez‐Aguilera, Juan, Rodríguez‐Palmero, Agustí, Romá‐Mateo, Carlos, Ruiz, Montserrat, Ruiz‐Arenas, Carlos, Santacatterina, Fulvio, Santamarina, Marta, Santos‐Ocaña, Carlos, Santos Simarro, Fernando, Schlüter, Agatha, Tizzano, Eduardo, Tort, Frederic, Vega, Ana, Vélez‐Santamaria, Valentina, Vílchez, Juan J.

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On the association between Chiari malformation type 1, bone mineral density and bone related genes von Martínez-Gil, Núria, Mellibovsky, Leonardo, Manzano-López González, Demián, Patiño, Juan David, Cozar, Mónica, Rabionet, Raquel, Grinberg, Daniel, Balcells, Susana

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Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome von Benetó, Noelia, Cozar, Mónica, Gort i Mas, Laura, Pacheco, Laura, Vilageliu i Arqués, Lluïsa, Grinberg Vaisman, Daniel Raúl, Canals Montferrer, Isaac

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