Functional studies in yeast confirm the pathogenicity of a new GINS3 Meier–Gorlin syndrome variant
Mehrjoo, Yosra, Campeau, Philippe M., Al Abdi, Lama, Aldowaish, Abdullah, Abouyousef, Omar, Alkuraya, Fowzan S., Codina‐Solà, Marta, Cueto‐González, Anna M., Wurtele, Hugo
Published in Clinical genetics (01.09.2024)
Published in Clinical genetics (01.09.2024)
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Journal Article
Distal hereditary motor neuropathy due to a novel YARS1 gene pathogenic variant
Llauradó, Arnau, Gratacòs‐Viñola, Margarida, Rovira‐Moreno, Eulàlia, Codina‐Solà, Marta, Salvadó, Maria, Sanchez‐Tejerina, Daniel, Sotoca, Javier, Raguer, Núria, Garcia‐Arumi, Elena, Juntas‐Morales, Raul
Published in Muscle & nerve (01.06.2023)
Published in Muscle & nerve (01.06.2023)
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Journal Article
Chronic progressive external ophthalmoplegia plus syndrome due to homozygous missense variant in TOP3A gene
Llauradó, Arnau, Rovira‐Moreno, Eulalia, Codina‐Solà, Marta, Martínez‐Saez, Elena, Salvadó, Maria, Sanchez‐Tejerina, Daniel, Sotoca, Javier, López‐Diego, Verónica, Restrepo‐Vera, Juan Luis, Garcia‐Arumi, Elena, Juntas‐Morales, Raul
Published in Clinical genetics (01.04.2023)
Published in Clinical genetics (01.04.2023)
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Journal Article
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2
Blasco-Pérez, Laura, Costa-Roger, Mar, Leno-Colorado, Jordi, Bernal, Sara, Alias, Laura, Codina-Solà, Marta, Martínez-Cruz, Desirée, Castiglioni, Claudia, Bertini, Enrico, Travaglini, Lorena, Millán, José M, Aller, Elena, Sotoca, Javier, Juntas, Raúl, Hoei-Hansen, Christina Engel, Moreno-Escribano, Antonio, Guillén-Navarro, Encarna, Costa-Comellas, Laura, Munell, Francina, Boronat, Susana, Rojas-García, Ricardo, Povedano, Mónica, Cuscó, Ivon, Tizzano, Eduardo F
Published in International journal of molecular sciences (27.07.2022)
Published in International journal of molecular sciences (27.07.2022)
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Journal Article
Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond
de Valles-Ibáñez, Guillem, Esteve-Solé, Ana, Piquer, Mònica, González-Navarro, E Azucena, Hernandez-Rodriguez, Jessica, Laayouni, Hafid, González-Roca, Eva, Plaza-Martin, Ana María, Deyà-Martínez, Ángela, Martín-Nalda, Andrea, Martínez-Gallo, Mónica, García-Prat, Marina, Del Pino-Molina, Lucía, Cuscó, Ivón, Codina-Solà, Marta, Batlle-Masó, Laura, Solís-Moruno, Manuel, Marquès-Bonet, Tomàs, Bosch, Elena, López-Granados, Eduardo, Aróstegui, Juan Ignacio, Soler-Palacín, Pere, Colobran, Roger, Yagüe, Jordi, Alsina, Laia, Juan, Manel, Casals, Ferran
Published in Frontiers in immunology (14.05.2018)
Published in Frontiers in immunology (14.05.2018)
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Journal Article
A novel FAM83G variant from palmoplantar keratoderma patient disrupts WNT signalling via loss of FAM83G-CK1α interaction
Glennie, Lorraine, Solà, Marta Codina, Xunclà, Mar, Español, Gloria Aparicio, Garcia-Arumí, Elena, Tizzano, Eduardo Fidel, Wood, Nicola T, Macartney, Thomas J, Lasa-Aranzasti, Amaia, Sapkota, Gopal P
Published in Open biology (01.07.2024)
Published in Open biology (01.07.2024)
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Journal Article
Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders
Codina-Solà, Marta, Rodríguez-Santiago, Benjamín, Homs, Aïda, Santoyo, Javier, Rigau, Maria, Aznar-Laín, Gemma, Del Campo, Miguel, Gener, Blanca, Gabau, Elisabeth, Botella, María Pilar, Gutiérrez-Arumí, Armand, Antiñolo, Guillermo, Pérez-Jurado, Luis Alberto, Cuscó, Ivon
Published in Molecular autism (15.04.2015)
Published in Molecular autism (15.04.2015)
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Journal Article
The diagnosis communication process in spinal muscular atrophy: A cross-cutting view of the new challenges facing the therapeutic era
Rovira-Moreno, Eulàlia, Abulí, Anna, Muñoz-Cabello, Patricia, Codina-Solà, Marta, Baillès, Eva, de Lemus, Mencía, Darras, Basil T., Tizzano, Eduardo F.
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Journal Article
Provision of Genetic Services for Autism and its Impact on Spanish Families
Codina-Solà, Marta, Pérez-Jurado, Luis A., Cuscó, Ivon, Serra-Juhé, Clara
Published in Journal of autism and developmental disorders (01.10.2017)
Published in Journal of autism and developmental disorders (01.10.2017)
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Journal Article
Signatures of Evolutionary Adaptation in Quantitative Trait Loci Influencing Trace Element Homeostasis in Liver
Engelken, Johannes, Espadas, Guadalupe, Mancuso, Francesco M, Bonet, Nuria, Scherr, Anna-Lena, Jímenez-Álvarez, Victoria, Codina-Solà, Marta, Medina-Stacey, Daniel, Spataro, Nino, Stoneking, Mark, Calafell, Francesc, Sabidó, Eduard, Bosch, Elena
Published in Molecular biology and evolution (01.03.2016)
Published in Molecular biology and evolution (01.03.2016)
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Journal Article
Clinical Risk Prediction in Patients With Left Ventricular Myocardial Noncompaction
Casas, Guillem, Limeres, Javier, Oristrell, Gerard, Gutierrez-Garcia, Laura, Andreini, Daniele, Borregan, Mar, Larrañaga-Moreira, Jose M., Lopez-Sainz, Angela, Codina-Solà, Marta, Teixido-Tura, Gisela, Sorolla-Romero, José Antonio, Fernández-Álvarez, Paula, González-Carrillo, Josefa, Guala, Andrea, La Mura, Lucia, Soler-Fernández, Rafaela, Sao Avilés, Augusto, Santos-Mateo, Juan José, Marsal, Josep Ramon, Ribera, Aida, de la Pompa, José Luis, Villacorta, Eduardo, Jiménez-Jáimez, Juan, Ripoll-Vera, Tomás, Bayes-Genis, Antoni, Garcia-Pinilla, José Manuel, Palomino-Doza, Julián, Tiron, Coloma, Pontone, Gianluca, Bogaert, Jan, Aquaro, Giovanni D., Gimeno-Blanes, Juan Ramon, Zorio, Esther, Garcia-Pavia, Pablo, Barriales-Villa, Roberto, Evangelista, Artur, Masci, Pier Giorgio, Ferreira-González, Ignacio, Rodríguez-Palomares, José F.
Published in Journal of the American College of Cardiology (17.08.2021)
Published in Journal of the American College of Cardiology (17.08.2021)
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Journal Article
Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome
Valenzuela, Irene, Codina-Solà, Marta, Vazquez, Elida, Cueto-González, Anna, Leno-Colorado, Jordi, Lasa-Aranzasti, Amaia, Trujillano, Laura, Masotto, Bárbara, Masas, Miriam, Escobar, Mar, García-Arumí, Elena, Tizzano, Eduardo F.
Published in Genetics in medicine (01.12.2024)
Published in Genetics in medicine (01.12.2024)
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Journal Article
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples
Abulí, Anna, Costa-Roger, Mar, Codina-Solà, Marta, Valenzuela, Irene, Leno-Colorado, Jordi, Rovira-Moreno, Eulàlia, Cueto-González, Anna, Fernández-Álvarez, Paula, García-Arumí, Elena, Cuscó, Ivon, Tizzano, Eduardo F
Published in Journal of medical genetics (01.06.2023)
Published in Journal of medical genetics (01.06.2023)
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Journal Article
Limb-girdle myopathy and mild intellectual disability: The expanding spectrum of TANGO2-related disease
Restrepo-Vera, Juan Luis, Muñoz-Cabello, Patricia, Pérez-Rodon, Jordi, Rovira-Moreno, Eulàlia, Codina-Solà, Marta, Llauradó, Arnau, Salvadó, Maria, Sánchez-Tejerina, Daniel, Sotoca, Javier, Martínez-Sáez, Elena, García-Arumí, Elena, Juntas-Morales, Raul
Published in Neuromuscular disorders : NMD (01.06.2023)
Published in Neuromuscular disorders : NMD (01.06.2023)
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Journal Article
An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history
Codina-Solà, Marta, Trujillano, Laura, Abulí, Anna, Rovira-Moreno, Eulàlia, Muñoz-Cabello, Patricia, Campos, Berta, Fernández-Álvarez, Paula, Palau, Dolors, Carrasco, Estela, Valenzuela, Irene, Cueto-González, Anna Maria, Lasa-Aranzasti, Amaia, Limeres, Javier, Leno-Colorado, Jordi, Costa-Roger, Mar, Moles-Fernández, Alejandro, Balmaña, Judith, Díez, Orland, Cuscó, Ivon, Garcia-Arumí, Elena, Tizzano, Eduardo Fidel
Published in European journal of human genetics : EJHG (01.02.2023)
Published in European journal of human genetics : EJHG (01.02.2023)
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Journal Article
Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy
Costa-Roger, Mar, Blasco-Pérez, Laura, Gerin, Lorene, Codina-Solà, Marta, Leno-Colorado, Jordi, Gómez-García De la Banda, Marta, Garcia-Uzquiano, Rocio, Saugier-Veber, Pascale, Drunat, Séverine, Quijano-Roy, Susana, Tizzano, Eduardo F
Published in Neurology. Genetics (01.08.2024)
Published in Neurology. Genetics (01.08.2024)
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Journal Article
Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13‐related: Description of 11 further cases
Díaz‐González, Francisca, Parrón‐Pajares, Manuel, Lucas‐Castro, Elsa, Modamio‐Høybjør, Silvia, Sentchordi‐Montané, Lucia, Seidel, Verónica, Prieto, Pablo, Tarraso‐Urios, Guillermo, Codina‐Sola, Marta, Cueto‐González, Anna M., Ballesta‐Martínez, Mary J., Santos‐Simarro, Fernando, Sousa, Sergio B., Heath, Karen E.
Published in Clinical genetics (01.07.2023)
Published in Clinical genetics (01.07.2023)
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Journal Article
270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10–12 March, 2023, Hoofddorp, the Netherlands
Abiusi, Emanuela, Costa-Roger, Mar, Bertini, Enrico Silvio, Tiziano, Francesco Danilo, Tizzano, Eduardo F., Abiusi, Dr Emanuela, Baranello, Dr Giovanni, Bertini, Prof. Enrico, Boemer, Dr François, Burghes, Prof. Arthur, Codina-Solà, Dr Marta, Costa-Roger, Dr Mar, Dangouloff, Dr Tamara, Groen, Dr Ewout, Gos, Dr Monika, Jędrzejowska, Dr Maria, Kirschner, Prof. Janbernd, Lemmink, Dr Henny H, Müller-Felber, Prof. Wolfgang, Ouillade, Ms Marie-Christine, Quijano-Roy, Prof. Susana, Rucinski, Mr Kacper, Saugier-Veber, Dr Pascale, Tiziano, Prof. Francesco Danilo, Tizzano, Prof. Eduardo Fidel, Wirth, Prof. Brunhilde
Published in Neuromuscular disorders : NMD (01.01.2024)
Published in Neuromuscular disorders : NMD (01.01.2024)
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Journal Article
Conference Proceeding
Beyond the disease itself: A cross‐cutting educational initiative for patients and families with rare diseases
Rovira‐Moreno, Eulàlia, Abuli, Anna, Codina‐Sola, Marta, Valenzuela, Irene, Serra‐Juhe, Clara, Cuscó, Ivon, Borregán, Mar, Cueto‐González, Anna, Vendrell, Teresa, López‐Grondona, Fermina, Brun‐Gasca, Carme, Brignani, Eduardo, Martínez‐Ribot, Laia, Garci‐Espejo, Regla, Cruz, Jordi, García‐Arumí, Elena, Tizzano, Eduardo F.
Published in Journal of genetic counseling (01.06.2021)
Published in Journal of genetic counseling (01.06.2021)
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