| Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy I Cuscó, S Bernal, L Blasco-Pérez, M Calucho, L Alias, P Fuentes-Prior, ... Neurology: Genetics 6 (6), e530, 2020 | 41 | 2020 |
| Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium F Boemer, JH Caberg, P Beckers, V Dideberg, S di Fiore, V Bours, ... Scientific reports 11 (1), 19922, 2021 | 40 | 2021 |
| Th1-skewed profile and excessive production of proinflammatory cytokines in a NFKB1-deficient patient with CVID and severe gastrointestinal manifestations R Dieli-Crimi, M Martínez-Gallo, C Franco-Jarava, M Antolin, L Blasco, ... Clinical Immunology 195, 49-58, 2018 | 34 | 2018 |
| The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome S Vidal, N Brandi, P Pacheco, E Gerotina, L Blasco, JR Trotta, S Derdak, ... Scientific reports 7 (1), 12288, 2017 | 31 | 2017 |
| Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients L Blasco‐Pérez, I Paramonov, J Leno, S Bernal, L Alias, P Fuentes‐Prior, ... Human Mutation 42 (6), 787-795, 2021 | 22 | 2021 |
| Molecular characterization of Spanish patients with MECP2 duplication syndrome A Pascual‐Alonso, L Blasco, S Vidal, E Gean, P Rubio, M O'Callaghan, ... Clinical Genetics 97 (4), 610-620, 2020 | 20 | 2020 |
| X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients C Xiol, S Vidal, A Pascual-Alonso, L Blasco, N Brandi, P Pacheco, ... Scientific reports 9 (1), 11983, 2019 | 18 | 2019 |
| 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 | 16 | 2021 |
| 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 | 10 | 2022 |
| Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid N Camats, N Baz-Redón, M Fernández-Cancio, M Clemente, ... The Journal of Clinical Endocrinology & Metabolism 106 (1), e152-e170, 2021 | 10 | 2021 |
| 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 | 6 | 2022 |
| Uncovering low-level maternal gonosomal mosaicism in X-linked agammaglobulinemia: implications for genetic counseling JG Rivière, C Franco-Jarava, M Martínez-Gallo, A Aguiló-Cucurull, ... Frontiers in immunology 11, 46, 2020 | 4 | 2020 |
| An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex: The Role of Mosaicism and Splicing Variants L Blasco-Pérez, L Iranzo-Nuez, R López-Ortega, D Martínez-Cruz, ... The Journal of Molecular Diagnostics 25 (9), 692-701, 2023 | 1 | 2023 |
| SMN2genes study by NGS in spinal muscular atrophy: towards identification of new SMA modifiers L Blasco-Pérez, I Paramonov, L Iranzo, D Martinez-Cruz, L Alias, S Bernal, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 444-444, 2020 | 1 | 2020 |
| The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome (vol 7, 12288, 2021) S Vidal, N Brandi, P Pacheco, E Gerotina, L Blasco, JR Trotta, S Derdak, ... SCIENTIFIC REPORTS 11 (1), 2021 | | 2021 |
| Molecular characterization of Spanish MECP2 duplication syndrome patients: more IRAK1 than we thought L Blasco, S Vidal, A Pascual-Alonso, E Gean, M O'Callaghan, A Martinez, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1444-1445, 2019 | | 2019 |
| Expanding the LZTR1-RASopathy association: Three new cases of Noonan Syndrome with LZTR1 mutations P Fernandez Alvarez, I Valenzuela Palafoll, F Lopez Grondona, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1516-1517, 2019 | | 2019 |
| Genetic diagnosis of rett syndrome by Next Generation Sequencing S Vidal, NM Brandi, P Pacheco, E Gerotina, L Blasco, A Garcia, ... EUROPEAN JOURNAL OF HUMAN GENETICS 26, 354-355, 2018 | | 2018 |
| Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling G Rivière Jacques, FJ Clara, MG Mónica, AC Aina, BP Laura, P Ida, ... Frontiers in Immunology 11, 0 | | |
