Arterial tortuosity syndrome: Phenotypic features and cardiovascular manifestations in 4 newly identified patients

Authors: Esmel-Vilomara, Roger, Valenzuela, Irene, Riaza, Lucía, Rodríguez-Santiago, Benjamín, Rosés-Noguer, Ferran, Boronat, Susana, Sabaté-Rotés, Anna

Source: In European Journal of Medical Genetics September 2023 66(9)

CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

Authors: Luque, Juan, Mendes, Ingrid, Gómez, Beatriz, Morte, Beatriz, López de Heredia, Miguel, Herreras, Enrique, Corrochano, Virginia, Bueren, Juan, Gallano, Pía, Artuch, Rafael, Fillat, Cristina, Pérez‐Jurado, Luis A., Montoliu, Lluis, Carracedo, Ángel, Millán, José M., Webb, Susan M., Palau, Francesc, Aguado, Carmen, Aguado, Cristina, Aguilera, Paula, Albiñana, Virginia, Alías, Laura, Almoguera, Berta, Alonso, Javier, Alonso‐Ferreira, Verónica, Alvarez‐Mora, María Isabel, Antiñolo, Guillermo, Arbones, María L., Arenas, Joaquín, Arjona, Emi, Armangue, Thais, Armstrong, Judith, Arnedo, María, Masó, Anna Aulinas, Avila‐Fernandez, Almudena, Ayuso, Carmen, Badell, Isabel, Badenas, Celia, Baeza, María L., Baiget, Montserrat, Balcells, Susanna, Ballesta‐Martínez, María Juliana, Barahona, María‐José, Barros, Francisco, Bartoccioni, Paola Chiara, Pilar Bayona‐Bafaluy, M., Benito Sanz, Sara, Bernabéu, Carmelo, Bernal, Sara, Blanco‐Kelly, Fiona, Blázquez, Alberto, Bodoy, Susanna, Bogliolo, Massimo, Borralleras, Cristina, Borrego, Salud, Botella, Luisa M., Bou de Pieri, Francesc, Bovolenta, Paola, Bravo‐Gil, Nereida, Brea, Alejandro, Bueno‐Lozano, Gloria, Bustamante, Ana, Caballero, Teresa, Camacho‐Macorra, Carlos, Cámara, Yolanda, Camats‐Tarruella, Núria, Campos Barros, Ángel, Campuzano, Victoria, Cantarero, Lara, Cantó, Judith, Caparrós‐Martín, JoséAntonio, Cardellach, Francesc, Carmona, Rosario, Carrera, Cristina, Carretero, Marta, Casado, Mercedes, Casado, JoséAntonio, Casasnovas, Carlos, Cascón, Alberto, Casino, Patricia, Castaño, Luis, Castilla‐Vallmanya, Laura, Catala, Albert, Luisa Cayuela, María, Cediel, Rafael, Cervera, Javier, Codina‐Solà, Marta, Contreras, Julio, Cormand, Bru, Corominas, Roser, Corral, Javier, Cortés‐Rodríguez, Ana, Corton, Marta, Costa‐Roger, Mar, Cozar, Mónica, Crespo, Iris, Crispi, Fátima, Cruz, Raquel, Cuezva, JoséM., Cuscó, Ivon, Dalmau, Josep, Cima, Sergio, Luna, Susana, Luna, NoemíDe, Oyarzabal Sanz, Alfonso, del Campo, Miguel, del Castillo, Ignacio, Del Pino Molina, Lucía, Del Pozo, Ángela, del Río, Marcela, Delmiro, Aitor, Desviat, Lourdes R., Dierssen, Mara, Domínguez‐González, Cristina, Domínguez‐Ruiz, María, Dopazo, Joaquín, Errasti, Ekaitz, Escámez, María José, Cristina Estañ, Maria, Esteban, Jesús, Estévez, Raúl, Ezquieta, Begoña, Fernández, Luis, Fernández, Almudena, Fernández‐Cancio, Mónica, Fernàndez‐Castillo, Noèlia, Fernández‐San Jose, Patricia, Fons, Carmen, Fort, Joana, Fourcade, Stéphane, Fraga, Mario F., Gallardo, Eduard, García, Marta, García‐Arumí, Elena, García‐Bravo, María, García‐Cazorla, Angels, García‐Consuegra, Inés, Garcia‐Garcia, Francesc Josep, García‐García, Gema, García‐Giménez, JoséLuis, Garcia‐Gimeno, María Adelaida, García‐Miñaur, Sixto, García‐Redondo, Alberto, Teresa García‐Silva, M., García‐Villoria, Judit, García Santiago, Fe, Garrabou, Gloria, Garrido, Gema, Garrido‐Pérez, Nuria, Gaztambide, Sonia, Gil‐Campos, Mercedes, Giroud‐Gerbetant, Judith, Glover, Guillermo, Gómez‐Puertas, Paulino, Gonzalez‐Cabo, Pilar, Gonzalez‐Casacuberta, Ingrid, González‐del Pozo, María, González‐Quereda, Lidia, González‐Quintana, Adrián, Gort, Laura, Gougeard, Nadine, Gratacos, Eduard, María Grau, Josep, Grinberg, Daniel, Güenechea, Guillermo, Guerrero, Rosa, Guillén‐Navarro, Encarna, Guitart‐Mampel, Mariona, Gutiérrez‐Arumí, Armand, Heath, Karen, Heredia, Miguel, Hernández‐Chico, Concepción, Hoenicka, Janet, Homs, Aïda, Andrés Jimenez‐Estrada, Juan, Jimenez‐Mallebrera, Cecilia, Jou, Cristina, Luz Juarez‐Flores, Diana, Lapunzina, Pablo, Larcher, Fernando, Lasa, Adriana, Lassaletta, Luis, Latorre‐Pellicer, Ana, Linares, Daniel, Llacer, JoséLuis, Llames, Sara, Lopez‐Gallardo, Ester, López‐Laso, Eduardo, López‐Lera, Alberto, Lopez‐Lopez, Daniel, López‐Sánchez, Marcos, López Granados, Eduardo, Lorda‐Sanchez, Isabel, Luisa Lozano, María, Madrigal, Irene, Malvehy, Josep, Manguán García, Cristina, Mansilla, Elena, Marco‐Marín, Clara, Marfany, Gemma, Marina, Alberto, Martí, Ramón, Martí, Salvador, Martin, Yolanda, Martín, Miguel A., Martín‐Hernandez., Elena, Martin‐Merida, Inmaculada, Martínez, Rosa, Martínez‐Azorín, Francisco, Martinez‐Delgado, Beatriz, Martínez‐Gil, Núria, Martínez‐Glez, Víctor M., Martínez‐Momblán, M.A., Carmen Martínez‐Romero, María, Martínez Fernández, Pilar, Martínez Santamaría, Lucía, Martorell, Loreto, Meade, Patricia, Meana, Álvaro, Ángel Medina, Miguel, Medrano, Andrés, Méndez‐Vidal, Cristina, Millán, JoséM., Minguez, Pablo, Minguillón, Jordi, Mirra, Serena, Molla, Belén, Moltó, Eduardo, Montero, Raquel, Montoya, Julio, Morán, María, Moren, Constanza, Moreno, Mireia, Moreno, JoséCarlos, Moreno‐Galdó, Antonio, Ángel Moreno‐Pelayo, Miguel, A Mori, María, Morin, Matías, Mulero, Victoriano, Muñoz‐Pujol, Gerard, Murillas, Rodolfo, Murillo‐Cuesta, Silvia, Nascimento, Andrés, Navarro, Susana, Navas, Plácido, Nevado, Julián, Nicolas, Adrià, Ángela Nieto, M., O′Callaghan, Mar, Olavarrieta, Leticia, Ormazabal, Aida, Ortiz‐Romero, Paula, Osorio, Ana, Páez, David, Palacín, Manuel, Gabriela Palacios‐Verdú, M., Palencia‐Campos, Adrián, Pallardó, Federico V., Palomares, María, Peña‐Chilet, María, Pérez, Belén, Perez‐Florido, Javier, Pérez‐García, Débora, Perez‐Jimenez, Eva, Perkins, James R., Perona, Rosario, Pie, Juan, Pinós, Tomàs, Pinto, Sheila, Potrony, Miriam, Puig, Susana, Antón Puig‐Butille, Joan, Puisac, Beatriz, Pujol, Roser, Pujol, Aurora, Quintana, Óscar, Rabionet, Raquel, JoséRamírez de Haro, María, Ramos, Feliciano J., Ranea, Juan A.G., Reina‐Castillón, Judith, Resmini, Eugenia, Ribes, Antonia, Rica, Itxaso, Richard, Eva, Riera, Pau, Río, Paula, Riveiro‐Alvarez, Rosa, Rivera, José, Rivera‐Barahona, Ana, Robledo, Mercedes, Carlos Rodriguez‐Aguilera, Juan, Rodríguez‐de la Rosa, Lourdes, Rodríguez‐Palmero, Agustí, Rodriguez‐Pombo, Pilar, Rodriguez‐Revenga, Laia, Rodríguez‐Santiago, Benjamín, Rodríguez‐Sureda, Víctor, Rodríguez de Alba, Marta, Rodríguez de Cordoba, Santiago, Romá‐Mateo, Carlos, Rubio, Vicente, Ruiz, Ángela, Ruiz, Montserrat, Ruiz‐Arenas, Carlos, Luis Ruiz‐Perez, Victor, Ruiz‐Pesini, Eduardo, Ruiz‐Ponte, Clara, Rullo, Josep, Sabater, Lidia, Salazar, Juliana, Salido, Eduardo, Sanchez‐Jimeno, Carolina, María Sánchez Cuesta, Ana, JoséSánchez Soler, María, Santacatterina, Fulvio, Santamarina, Marta, Santos, Alicia, Santos‐Ocaña, Carlos, Santos Simarro, Fernando, Sanz, Pascual, Sastre, Leandro, Schlüter, Agatha, Segovia, JoséCarlos, Segura‐Puimedon, María, Seoane, Pedro, Serra‐Juhe, Clara, Serrano, Mercedes, Serratosa, JoséM., Sevilla, Teresa, Surrallés, Jordi, Tahsin‐Swafiri, Saoud, Tell‐Martí, Gemma, Antonio Tenorio‐Castaño, Jair, Tizzano, Eduardo, Tobias, Ester, Tort, Frederic, Trujillano, Laura, JoséTrujillo‐Tiebas, María, Ugalde, Cristina, Ugarteburu, Olatz, Urreizti, Roser, Urrutia, Inés, Valencia, María, Vallcorba, Patricia, Vallespín, Elena, Varela‐Nieto, Isabel, Vega, Ana, Vélez‐Santamaria, Valentina, Vílchez, Juan J., Villa, Olaya, Villamar, Manuela, Zubeldia, JoséManuel, Zurita, Olga

Source: Clinical genetics. 101(5-6):481-493

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100149766154.0x000001&indx=1&recIds=ETOCvdc_100149766154.0x000001

Identification of a pathogenic mutation in ARPP21in patients with amyotrophic lateral sclerosis

Authors: Dols-Icardo, Oriol, Carbayo, Álvaro, Jericó, Ivonne, Blasco-Martínez, Olga, Álvarez-Sánchez, Esther, López Pérez, Maria Angeles, Bernal, Sara, Rodríguez-Santiago, Benjamín, Cusco, Ivon, Turon-Sans, Janina, Cabezas-Torres, Manuel, Caballero-Ávila, Marta, Vesperinas, Ana, Llansó, Laura, Pagola-Lorz, Inmaculada, Torné, Laura, Valle-Tamayo, Natalia, Muñoz, Laia, Rubio-Guerra, Sara, Illán-Gala, Ignacio, Cortés-Vicente, Elena, Gelpi, Ellen, Rojas-García, Ricard

Source: Journal of Neurology, Neurosurgery, & Psychiatry (JNNP); 2025, Vol. 96 Issue: 2 p132-139, 8p

A case report of PHF6 mosaicism: Beyond the classic Börjeson‐Forssman‐Lehmann syndrome

Authors: Garcia‐Melendo, Cristina, Roé, Esther, Rodríguez‐Santiago, Benjamín, Amat‐Samaranch, Victòria, Cubiró, Xavier, Puig, Lluís, Boronat, Susana

Source: Pediatric dermatology. 38(4):919-925

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100128498668.0x000001&indx=1&recIds=ETOCvdc_100128498668.0x000001

Heterozygous APOE Christchurch in familial Alzheimer's disease without mutations in other Mendelian genes

Authors: Hernandez, Isabel, Gelpi, Ellen, Molina‐Porcel, Laura, Bernal, Sara, Rodríguez‐Santiago, Benjamín, Dols‐Icardo, Oriol, Ruiz, Agustín, Alcolea, Daniel, Boada, Mercè, Lleó, Alberto, Clarimón, Jordi

Source: Neuropathology & applied neurobiology. 47(4):579-582

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100120666749.0x000001&indx=1&recIds=ETOCvdc_100120666749.0x000001

Screening of dementia genes by whole-exome sequencing in Spanish patients with early-onset dementia: likely pathogenic, uncertain significance and risk variants

Authors: Ramos-Campoy, Oscar, Antonell, Anna, Falgàs, Neus, Balasa, Mircea, Borrego-Écija, Sergi, Rodríguez-Santiago, Benjamín, Datta, Debayan, Armengol, Lluís, Fernández-Villullas, Guadalupe, Bosch, Beatriz, Olives, Jaume, Muñoz-García, Cristina, Castellví, Magdalena, Tort-Merino, Adrià, Sánchez-Valle, Raquel, Lladó, Albert

Source: In Neurobiology of Aging September 2020 93:e1-e9

Further delineation of the phenotype caused by loss of function mutations in PRMT7

Authors: Valenzuela, Irene, Segura-Puimedon, Maria, Rodríguez-Santiago, Benjamín, Fernández-Alvarez, Paula, Vendrell, Teresa, Armengol, Lluís, Tizzano, Eduardo

Source: In European Journal of Medical Genetics March 2019 62(3):182-185

Absence of Pathogenic Mutations and Strong Association With HLA-DRB1*11:01 in Statin-Naïve Early-Onset Anti-HMGCR Necrotizing Myopathy.

Authors: Llansó, Laura, Segarra-Casas, Alba, Domínguez-González, Cristina, Malfatti, Edoardo, Kapetanovic, Solange, Rodríguez-Santiago, Benjamín, de la Calle, Oscar, Blanco, Rosa, Dobrescu, Amelia, Nascimento-Osorio, Andrés, Paipa, Andrés, Hernandez-Lain, Aurelio, Jou, Cristina, Mariscal, Anaís, González-Mera, Laura, Arteche, Ana, Lleixà, Cinta, Caballero-Ávila, Marta, Carbayo, Álvaro, Vesperinas, Ana

Source: Neurology® Neuroimmunology & Neuroinflammation; Sep2024, Vol. 11 Issue 5, p1-12, 12p

Cribado ampliado de portadores en un programa de donación de ovocitos: Implementación de un nuevo test y resultados tras dos años de experiencia

Alternate Title: Expanded carrier screening in an oocyte donation programme: Implementation and results of a new test after two-year's experience (English)

Authors: Abulí, Anna, Latre, Laura, Boada, Montserrat, Palacios-Verdú, Gabriela, Clua, Elisabet, Rodríguez-Santiago, Benjamín, Armengol, Lluís, Veiga, Anna, Coroleu, Buenaventura, Estivill, Xavier, Barri, Pedro N.

Source: In Medicina Reproductiva y Embriología Clínica September-December 2017 4(3):113-121

Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY‐associated diseases.

Authors: Cavestro, Chiara, Morra, Francesca, Legati, Andrea, D'Amato, Marco, Nasca, Alessia, Iuso, Arcangela, Lubarr, Naomi, Morrison, Jennifer L., Wheeler, Patricia G., Serra‐Juhé, Clara, Rodríguez‐Santiago, Benjamín, Turón‐Viñas, Eulalia, Prouteau, Clement, Barth, Magalie, Hayflick, Susan J., Ghezzi, Daniele, Tiranti, Valeria, Di Meo, Ivano

Source: Annals of Clinical & Translational Neurology; Jun2024, Vol. 11 Issue 6, p1615-1629, 15p

Subject Terms: PHENOTYPES, EPILEPSY, CELL communication, COENZYME A, AUTISM spectrum disorders, TRANSCRIPTOMES

Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia

Authors: Reina-Castillón, Judith ^{1, 2, 3}, Pujol, Roser ^{3, 4}, López-Sánchez, Marcos ^{1, 2, 5}, Rodríguez-Santiago, Benjamín ^{1, 2, 6}, Aza-Carmona, Miriam ^{3, 4}, González, Juan Ramón ^{1, 5, 7}, Casado, José Antonio ^{3, 8, 9}, Bueren, Juan Antonio ^{3, 8, 9}, Sevilla, Julián ¹⁰, Badel, Isabel ¹¹, Català, Albert ¹², Beléndez, Cristina ¹³, Dasí, María Ángeles ¹⁴, Díaz de Heredia, Cristina ¹⁵, Soulier, Jean ^{16, 17, 18}, Schindler, Detlev ¹⁹, Pérez-Jurado, Luis Alberto ^{1, 2, 3, *}, Surrallés, Jordi ^{3, 4, 20, *}

Source: In Blood Advances 24 January 2017 1(5):319-329

Tecnologías de secuenciación de nueva generación en diagnóstico genético pre- y postnatal

Alternate Title: Next generation sequencing technology in pre- and postnatal genetic diagnosis (English)

Authors: Rodríguez-Santiago, Benjamín, Armengol, Lluís

Source: In Diagnóstico Prenatal April-June 2012 23(2):56-66

Mosaic Uniparental Disomies and Aneuploidies as Large Structural Variants of the Human Genome.

Authors: Rodríguez-Santiago, Benjamín, Malats, Núria, Rothman, Nathaniel

Source: American Journal of Human Genetics; July 9 2010, Vol. 87 Issue 1, p129-138, 10p

Expression of mitochondrial genes and transcription estimation in different brain areas in Alzheimer's disease patients

Authors: Rodríguez-Santiago, Benjamín, Nunes, Virginia ^*

Source: In Neurobiology of Disease 2005 18(2):296-304

Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.

Authors: Codina-Solà, Marta^1,2,3, Rodríguez-Santiago, Benjamín⁴, Homs, Aïda^1,2,3, Santoyo, Javier⁵, Rigau, Maria¹, Aznar-Laín, Gemma⁶, del Campo, Miguel^1,3,7, Gener, Blanca⁸, Gabau, Elisabeth⁹, Botella, María Pilar¹⁰, Gutiérrez-Arumí, Armand^1,2,3, Antiñolo, Guillermo^3,5,11, Pérez-Jurado, Luis Alberto^1,2,3 luis.perez@upf.edu, Cuscó, Ivon^1,2,3 ivon.cusco@upf.edu

Source: Molecular Autism. 2015, Vol. 6 Issue 1, p1-16. 16p.

Subject Terms: *AUTISM spectrum disorders, *DISEASES in men, *NUCLEOTIDE sequence, *ETIOLOGY of diseases, *BLOOD cells, *GENETICS

A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data

Authors: Pique-Regi Roger, Cáceres Alejandro, Rodríguez-Santiago Benjamín, González Juan R, Rothman Nathaniel, Chanock Stephen J, Armengol Lluís, Pérez-Jurado Luis A

Source: BMC Bioinformatics, Vol 12, Iss 1, p 166 (2011)

Subject Terms: Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.biomedcentral.com/1471-2105/12/166; https://doaj.org/toc/1471-2105

Access URL: https://doaj.org/article/3210a606143948838d756aa0ae899e54

Genetic and genomic analysis modeling of germline c-MYC overexpression and cancer susceptibility

Authors: Nunes Virginia, Estivill Xavier, Pérez-Jurado Luis, Abril Jesús, Condom Enric, Aguiló Fernando, Maxwell Christopher A, Gómez Laia, Rodríguez-Santiago Benjamín, Armengol Lluís, de Heredia Miguel, Hernández Pilar, Solé Xavier, Capellá Gabriel, Gruber Stephen B, Moreno Víctor, Pujana Miguel

Source: BMC Genomics, Vol 9, Iss 1, p 12 (2008)

Subject Terms: Biotechnology, TP248.13-248.65, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.biomedcentral.com/1471-2164/9/12; https://doaj.org/toc/1471-2164

Access URL: https://doaj.org/article/1558ca11de854fd799141b774f688cdd

Novel genes involved in severe early-onset obesity revealed by rare copy number and sequence variants.

Authors: Serra-Juhé, Clara^1,2,3, Martos-Moreno, Gabriel Á.^4,5,6, Bou de Pieri, Francesc^1,2,3, Flores, Raquel^1,2,3, González, Juan R.^2,7,8, Rodríguez-Santiago, Benjamín⁹, Argente, Jesús^4,5,6,10, jesus.argente@uam.es, Pérez-Jurado, Luis A.^1,2,3, luis.perez@upf.edu

Source: PLoS Genetics; 5/10/2017, Vol. 13 Issue 5, p1-19, 19p

Contribution of Rare Copy Number Variants to Isolated Human Malformations.

Authors: Serra-Juhé, Clara^1,2, Rodríguez-Santiago, Benjamín³, Cuscó, Ivon^1,2, Vendrell, Teresa⁴, Camats, Núria⁵, Torán, Núria⁵, Pérez-Jurado, Luis A.^1,2 luis.perez@upf.edu

Source: PLoS ONE. Oct2012, Vol. 7 Issue 10, Special section p1-9. 9p.

Subject Terms: *HUMAN abnormalities, *RESEARCH methodology, *DNA, *DELETION mutation, *FETAL diseases, *PHENOTYPES

Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.

Authors: Font-Llitjós, Mariona^1,2 mfont@idibell.org, Rodríguez-Santiago, Benjamín^3,4, Espino, Meritxell^3,4, Sillué, Ruth^1,2, Mañas, Sandra¹, Gómez, Laia¹, Pérez-Jurado, Luis A^3,4,5, Palacín, Manuel^6,7,8, Nunes, Virginia^1,2,9 vnunes@idibell.org

Source: European Journal of Human Genetics. Jan2009, Vol. 17 Issue 1, p71-79. 9p. 2 Diagrams, 2 Charts, 1 Graph.

Subject Terms: *CHROMOSOMES, *BONE diseases, *VITAMIN D deficiency, *GENETIC disorders, *EPITHELIAL cells