| The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy M Costa-Roger, L Blasco-Pérez, I Cuscó, EF Tizzano International Journal of Molecular Sciences 22 (16), 9029, 2021 | 21 | 2021 |
| Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome M Codina-Sola, M Costa-Roger, D Pérez-García, R Flores, ... Journal of medical genetics 56 (12), 801-808, 2019 | 15 | 2019 |
| Recommendations for interpreting and reporting silent carrier and disease-modifying variants in SMA testing workflows JN Milligan, L Blasco-Pérez, M Costa-Roger, M Codina-Solà, EF Tizzano Genes 13 (9), 1657, 2022 | 13 | 2022 |
| CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative J Luque, I Mendes, B Gomez, B Morte, M López de Heredia, E Herreras, ... Clinical Genetics 101 (5-6), 481-493, 2022 | 11 | 2022 |
| Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2 L Blasco-Pérez, M Costa-Roger, J Leno-Colorado, S Bernal, L Alias, ... International journal of molecular sciences 23 (15), 8289, 2022 | 8 | 2022 |
| 270th ENMC international workshop: Consensus for SMN2 genetic analysis in SMA patients 10–12 March, 2023, Hoofddorp, the Netherlands E Abiusi, M Costa-Roger, ES Bertini, FD Tiziano, EF Tizzano Neuromuscular Disorders 34, 114-122, 2024 | 3 | 2024 |
| Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples A Abulí, M Costa-Roger, M Codina-Solà, I Valenzuela, J Leno-Colorado, ... Journal of Medical Genetics 60 (6), 540-546, 2023 | 2 | 2023 |
| An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history M Codina-Solà, L Trujillano, A Abulí, E Rovira-Moreno, P Muñoz-Cabello, ... European Journal of Human Genetics 31 (2), 223-230, 2023 | 2 | 2023 |
| Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy M Costa-Roger, L Blasco-Pérez, L Gerin, M Codina-Solà, ... Neurology: Genetics 10 (4), e200175, 2024 | 1 | 2024 |
| Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy MM Zwartkruis, MG Elferink, D Gommers, I Signoria, L Blasco-Perez, ... medRxiv, 2024.07. 16.24310417, 2024 | | 2024 |
| Transcriptomic characterization of 7q11. 23 patient-specific induced pluripotent stem cells (iPSCs) and derivates M Costa-Roger, B Kuebler, M Alvarez-Estape, R Flores, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 260-260, 2022 | | 2022 |
| Characterization of autism spectrum disorder caused by alterations in complex genomic regions: molecular and pathophysiological mechanisms M Costa Roger | | 2021 |
| Transcriptomic analysis unveils functional consequences of complex rearrangements associated to autism spectrum disorder M Costa-Roger, M Lopez-Sanchez, T Vendrell, P Munoz-Cabello, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 376-377, 2020 | | 2020 |
