Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants
González-Del Pozo, María, Fernández-Suárez, Elena, Martín-Sánchez, Marta, Bravo-Gil, Nereida, Méndez-Vidal, Cristina, Rodríguez-de la Rúa, Enrique, Borrego, Salud, Antiñolo, Guillermo
Published in Journal of translational medicine (12.02.2020)
Published in Journal of translational medicine (12.02.2020)
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Benefits of inspiratory muscle training therapy in institutionalized adult people with cerebral palsy: A double‐blind randomized controlled trial
Martin‐Sanchez, Carlos, Barbero‐Iglesias, Fausto Jose, Amor‐Esteban, Victor, Martin‐Sanchez, Marta, Martin‐Nogueras, Ana Maria
Published in Brain and behavior (01.09.2024)
Published in Brain and behavior (01.09.2024)
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A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification
Martín-Sánchez, Marta, Bravo-Gil, Nereida, González-Del Pozo, María, Méndez-Vidal, Cristina, Fernández-Suárez, Elena, Rodríguez-de la Rúa, Enrique, Borrego, Salud, Antiñolo, Guillermo
Published in International journal of molecular sciences (08.12.2020)
Published in International journal of molecular sciences (08.12.2020)
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Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene
Fernández-Suárez, Elena, González-Del Pozo, María, Méndez-Vidal, Cristina, Martín-Sánchez, Marta, Mena, Marcela, de la Morena-Barrio, Belén, Corral, Javier, Borrego, Salud, Antiñolo, Guillermo
Published in Mobile DNA (04.05.2024)
Published in Mobile DNA (04.05.2024)
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Expanding the phenotype of THRB : a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant
Fernández-Suárez, Elena, González-Del Pozo, María, García-Núñez, Alejandro, Méndez-Vidal, Cristina, Martín-Sánchez, Marta, Mejías-Carrasco, José Manuel, Ramos-Jiménez, Manuel, Morillo-Sánchez, María José, Rodríguez-de la Rúa, Enrique, Borrego, Salud, Antiñolo, Guillermo
Published in Frontiers in cell and developmental biology (21.07.2023)
Published in Frontiers in cell and developmental biology (21.07.2023)
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A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies
González-del Pozo, María, Fernández-Suárez, Elena, Bravo-Gil, Nereida, Méndez-Vidal, Cristina, Martín-Sánchez, Marta, Rodríguez-de la Rúa, Enrique, Ramos-Jiménez, Manuel, Morillo-Sánchez, María José, Borrego, Salud, Antiñolo, Guillermo
Published in Npj genomic medicine (04.03.2022)
Published in Npj genomic medicine (04.03.2022)
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Mutational landscape, clonal evolution patterns, and role of RAS mutations in relapsed acute lymphoblastic leukemia
Oshima, Koichi, Khiabanian, Hossein, da Silva-Almeida, Ana C., Tzoneva, Gannie, Abate, Francesco, Ambesi-Impiombato, Alberto, Sanchez-Martin, Marta, Carpenter, Zachary, Penson, Alex, Perez-Garcia, Arianne, Eckert, Cornelia, Nicolas, Concepción, Balbin, Milagros, Sulis, Maria Luisa, Kato, Motohiro, Koh, Katsuyoshi, Paganin, Maddalena, Basso, Giuseppe, Gastier-Foster, Julie M., Devidas, Meenakshi, Loh, Mignon L., Kirschner-Schwabe, Renate, Palomero, Teresa, Rabadan, Raul, Ferrando, Adolfo A.
Published in Proceedings of the National Academy of Sciences - PNAS (04.10.2016)
Published in Proceedings of the National Academy of Sciences - PNAS (04.10.2016)
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Unravelling the genetic basis of simplex Retinitis Pigmentosa cases
Bravo-Gil, Nereida, González-del Pozo, María, Martín-Sánchez, Marta, Méndez-Vidal, Cristina, Rodríguez-de la Rúa, Enrique, Borrego, Salud, Antiñolo, Guillermo
Published in Scientific reports (03.02.2017)
Published in Scientific reports (03.02.2017)
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Direct Reversal of Glucocorticoid Resistance by AKT Inhibition in Acute Lymphoblastic Leukemia
Piovan, Erich, Yu, Jiyang, Tosello, Valeria, Herranz, Daniel, Ambesi-Impiombato, Alberto, Da Silva, Ana Carolina, Sanchez-Martin, Marta, Perez-Garcia, Arianne, Rigo, Isaura, Castillo, Mireia, Indraccolo, Stefano, Cross, Justin R., de Stanchina, Elisa, Paietta, Elisabeth, Racevskis, Janis, Rowe, Jacob M., Tallman, Martin S., Basso, Giuseppe, Meijerink, Jules P., Cordon-Cardo, Carlos, Califano, Andrea, Ferrando, Adolfo A.
Published in Cancer cell (09.12.2013)
Published in Cancer cell (09.12.2013)
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Long-Term Effects of Inspiratory Muscle Training in Institutionalized Elderly Women: A Double-Blind Randomized Controlled Trial
Martín-Sánchez, Carlos, Barbero-Iglesias, Fausto José, Amor-Esteban, Víctor, Martín-Sánchez, Marta, Martín-Nogueras, Ana María
Published in Gerontology (Basel) (2023)
Published in Gerontology (Basel) (2023)
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Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing
González-del Pozo, María, Martín-Sánchez, Marta, Bravo-Gil, Nereida, Méndez-Vidal, Cristina, Chimenea, Ángel, Rodríguez-de la Rúa, Enrique, Borrego, Salud, Antiñolo, Guillermo
Published in Scientific reports (06.09.2018)
Published in Scientific reports (06.09.2018)
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Tumor-specific HSP90 inhibition as a therapeutic approach in JAK-mutant acute lymphoblastic leukemias
Kucine, Nicole, Marubayashi, Sachie, Bhagwat, Neha, Papalexi, Efthymia, Koppikar, Priya, Sanchez Martin, Marta, Dong, Lauren, Tallman, Marty S., Paietta, Elisabeth, Wang, Kai, He, Jie, Lipson, Doron, Stephens, Phil, Miller, Vince, Rowe, Jacob M., Teruya-Feldstein, Julie, Mullighan, Charles G., Ferrando, Adolfo A., Krivtsov, Andrei, Armstrong, Scott, Leung, Laura, Ochiana, Stefan O., Chiosis, Gabriela, Levine, Ross L., Kleppe, Maria
Published in Blood (26.11.2015)
Published in Blood (26.11.2015)
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Novel BEST1 mutations and clinical characteristics of autosomal recessive bestrophinopathy in a Spanish patient
Soto-Sierra, Marina, Morillo-Sánchez, María José, Martín-Sánchez, Marta, Ramos-Jiménez, Manuel, López-Domínguez, Mireia, Ponte-Zuñiga, Beatriz, Antiñolo, Guillermo, Rodríguez-de-la-Rúa, Enrique
Published in European journal of ophthalmology (01.09.2022)
Published in European journal of ophthalmology (01.09.2022)
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Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients
Luzón-Toro, Berta, Espino-Paisán, Laura, Fernández, Raquel Ma, Martín-Sánchez, Marta, Antiñolo, Guillermo, Borrego, Salud
Published in BMC medical genetics (05.10.2015)
Published in BMC medical genetics (05.10.2015)
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Identification of epistatic interactions through genome-wide association studies in sporadic medullary and juvenile papillary thyroid carcinomas
Luzón-Toro, Berta, Bleda, Marta, Navarro, Elena, García-Alonso, Luz, Ruiz-Ferrer, Macarena, Medina, Ignacio, Martín-Sánchez, Marta, Gonzalez, Cristina Y, Fernández, Raquel M, Torroglosa, Ana, Antiñolo, Guillermo, Dopazo, Joaquin, Borrego, Salud
Published in BMC medical genomics (21.12.2015)
Published in BMC medical genomics (21.12.2015)
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Structure and Mechanisms of NT5C2 Mutations Driving Thiopurine Resistance in Relapsed Lymphoblastic Leukemia
Dieck, Chelsea L., Tzoneva, Gannie, Forouhar, Farhad, Carpenter, Zachary, Ambesi-Impiombato, Alberto, Sánchez-Martín, Marta, Kirschner-Schwabe, Renate, Lew, Scott, Seetharaman, Jayaraman, Tong, Liang, Ferrando, Adolfo A.
Published in Cancer cell (09.07.2018)
Published in Cancer cell (09.07.2018)
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Translating cancer genomics into precision medicine with artificial intelligence: applications, challenges and future perspectives
Xu, Jia, Yang, Pengwei, Xue, Shang, Sharma, Bhuvan, Sanchez-Martin, Marta, Wang, Fang, Beaty, Kirk A., Dehan, Elinor, Parikh, Baiju
Published in Human genetics (01.02.2019)
Published in Human genetics (01.02.2019)
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