A method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome
Keraite, Ieva, Becker, Philipp, Canevazzi, Davide, Frias-López, Cristina, Dabad, Marc, Tonda-Hernandez, Raúl, Paramonov, Ida, Ingham, Matthew John, Brun-Heath, Isabelle, Leno, Jordi, Abulí, Anna, Garcia-Arumí, Elena, Heath, Simon Charles, Gut, Marta, Gut, Ivo Glynne
Published in Nature communications (06.10.2022)
Published in Nature communications (06.10.2022)
Get full text
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)
Get full text
Journal Article
Clinical and molecular study of patients with thyroid dyshormogenesis and variants in the thyroglobulin gene
Fernández-Cancio, Mónica, Antolín, María, Clemente, María, Campos-Martorell, Ariadna, Mogas, Eduard, Baz-Redón, Noelia, Leno-Colorado, Jordi, Comas-Armangué, Gemma, García-Arumí, Elena, Soler-Colomer, Laura, González-Llorens, Núria, Camats-Tarruella, Núria, Yeste, Diego
Published in Frontiers in endocrinology (Lausanne) (08.07.2024)
Published in Frontiers in endocrinology (Lausanne) (08.07.2024)
Get full text
Journal Article
Whole-genome sequencing reveals insights into the adaptation of French Charolais cattle to Cuban tropical conditions
Ramírez-Ayala, Lino C, Rocha, Dominique, Ramos-Onsins, Sebas E, Leno-Colorado, Jordi, Charles, Mathieu, Bouchez, Olivier, Rodríguez-Valera, Yoel, Pérez-Enciso, Miguel, Ramayo-Caldas, Yuliaxis
Published in Genetics selection evolution (Paris) (04.01.2021)
Published in Genetics selection evolution (Paris) (04.01.2021)
Get full text
Journal Article
A Pathway-Centered Analysis of Pig Domestication and Breeding in Eurasia
Leno-Colorado, Jordi, Hudson, Nick J, Reverter, Antonio, Pérez-Enciso, Miguel
Published in G3 : genes - genomes - genetics (01.07.2017)
Published in G3 : genes - genomes - genetics (01.07.2017)
Get full text
Journal Article
Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients
Blasco‐Pérez, Laura, Paramonov, Ida, Leno, Jordi, Bernal, Sara, Alias, Laura, Fuentes‐Prior, Pablo, Cuscó, Ivon, Tizzano, Eduardo F.
Published in Human mutation (01.06.2021)
Published in Human mutation (01.06.2021)
Get full text
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 (02.10.2024)
Published in Genetics in medicine (02.10.2024)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
Journal Article