| Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity F Morales, JM Couto, CF Higham, G Hogg, P Cuenca, C Braida, ... Human molecular genetics 21 (16), 3558-3567, 2012 | 191 | 2012 |
| MSH3 modifies somatic instability and disease severity in Huntington’s and myotonic dystrophy type 1 M Flower, V Lomeikaite, M Ciosi, S Cumming, F Morales, K Lo, ... Brain 142 (7), 1876-1886, 2019 | 140 | 2019 |
| A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 … F Morales, M Vásquez, C Santamaría, P Cuenca, E Corrales, ... DNA repair 40, 57-66, 2016 | 88 | 2016 |
| High levels of somatic DNA diversity at the myotonic dystrophy type 1 locus are driven by ultra-frequent expansion and contraction mutations CF Higham, F Morales, CA Cobbold, DT Haydon, DG Monckton Human Molecular Genetics 21 (11), 2450-2463, 2012 | 59 | 2012 |
| An up-to-date overview of the complexity of genotype-phenotype relationships in myotonic channelopathies F Morales, M Pusch Frontiers in Neurology 10, 507246, 2020 | 39 | 2020 |
| Longitudinal increases in somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 are associated with variation in age-at-onset F Morales, M Vásquez, E Corrales, R Vindas-Smith, C Santamaría-Ulloa, ... Human molecular genetics 29 (15), 2496-2507, 2020 | 37 | 2020 |
| Disease-associated CAG· CTG triplet repeats expand rapidly in non-dividing mouse cells, but cell cycle arrest is insufficient to drive expansion M Gomes-Pereira, JD Hilley, F Morales, B Adam, HE James, ... Nucleic acids research 42 (11), 7047-7056, 2014 | 35 | 2014 |
| Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1 F Morales, M Vásquez, P Cuenca, D Campos, C Santamaría, G Del Valle, ... European Journal of Human Genetics 23 (5), 646-653, 2015 | 33 | 2015 |
| Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients R Vindas‐Smith, M Fiore, M Vásquez, P Cuenca, G Del Valle, ... Human mutation 37 (1), 74-83, 2016 | 29 | 2016 |
| Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene F Morales, P Cuenca, G Del Valle, M Vásquez, R Brian, M Sittenfeld, ... Revista de Biología Tropical 56 (1), 1-11, 2008 | 19 | 2008 |
| Analysis of mutational dynamics at the DMPK (CTG)n locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1 E Corrales, M Vásquez, B Zhang, C Santamaría-Ulloa, P Cuenca, ... Plos one 14 (5), e0216407, 2019 | 13 | 2019 |
| Miotomía congénita: Caracterización clínica de una familia costarricense afectada por la Enfermedad de Thomsen F Morales, P Cuenca, G Valle, R Brian, M Sittenfeld, O Montoya, ... Neuroeje, 82-86, 2003 | 12 | 2003 |
| Las mutaciones inestables, nuevo reto para el consejo genético de enfermedades hereditarias P Cuenca, F Morales Revista de Biología tropical 52 (3), 491-499, 2004 | 5 | 2004 |
| Disabilities caused by unstable mutations in Costa Rica P Cuenca, F Morales, I Castro Revista de biología tropical 52 (3), 501-505, 2004 | 2 | 2004 |
| Gene symbol: CLCN1. Disease: Myotonia congenita F Morales, P Cuenca, G del Valle, M Vásquez, R Brian, M Sittenfeld, ... Human genetics 123 (1), 104-105, 2008 | 1 | 2008 |
| Unstable mutations, new challenges for genetic counseling of inherited disorders P Cuenca, F Morales Revista de Biologia Tropical 52 (3), 491-499, 2004 | | 2004 |
| ARTICULO DE REVISION Miotonía congénita: caracterización clínica de una familia costarricense afectada por la Enfermedad de Thomsen F Morales, P Cuenca, G del Vallé, R Brian, M Sittenleld, O Montoya, ... | | |
