| Understanding differences between phylogenetic and pedigree-derived mtDNA mutation rate: a model using families from the Azores Islands (Portugal) C Santos, R Montiel, B Sierra, C Bettencourt, E Fernandez, L Alvarez, ... Molecular biology and evolution 22 (6), 1490-1505, 2005 | 124 | 2005 |
| A novel mutation in JARID1C gene associated with mental retardation C Santos, L Rodriguez-Revenga, I Madrigal, C Badenas, M Pineda, ... European journal of human genetics 14 (5), 583-586, 2006 | 98 | 2006 |
| Frequency and pattern of heteroplasmy in the complete human mitochondrial genome A Ramos, C Santos, L Mateiu, MM Gonzalez, L Alvarez, L Azevedo, ... PloS one 8 (10), e74636, 2013 | 93 | 2013 |
| Human mitochondrial DNA complete amplification and sequencing: A new validated primer set that prevents nuclear DNA sequences of mitochondrial origin co‐amplification A Ramos, C Santos, L Alvarez, R Nogués, MP Aluja Electrophoresis 30 (9), 1587-1593, 2009 | 87 | 2009 |
| Mitochondrial DNA damage patterns and aging: revising the evidences for humans and mice N Kazachkova, A Ramos, C Santos, M Lima Aging and disease 4 (6), 337, 2013 | 85 | 2013 |
| Tracing the origin of the east-west population admixture in the Altai region (Central Asia) M González-Ruiz, C Santos, X Jordana, M Simón, C Lalueza-Fox, E Gigli, ... PLoS One 7 (11), e48904, 2012 | 79 | 2012 |
| Increased transcript diversity: novel splicing variants of Machado–Joseph disease gene (ATXN3) C Bettencourt, C Santos, R Montiel, M do Carmo Costa, P Cruz-Morales, ... Neurogenetics 11 (2), 193-202, 2010 | 72 | 2010 |
| Genetic structure and origin of peopling in the Azores islands (Portugal): the view from mtDNA C Santos, M Lima, R Montiel, N Angles, L Pires, A Abade, MP Aluja Annals of human genetics 67 (5), 433-456, 2003 | 63 | 2003 |
| Analysis of segregation patterns in Machado–Joseph disease pedigrees C Bettencourt, C Santos, T Kay, J Vasconcelos, M Lima Journal of human genetics 53 (10), 920-923, 2008 | 61 | 2008 |
| The APOE ε2 allele increases the risk of earlier age at onset in Machado-Joseph disease C Bettencourt, M Raposo, N Kazachkova, T Cymbron, C Santos, T Kay, ... Archives of neurology 68 (12), 1580-1583, 2011 | 57 | 2011 |
| Frequency and pattern of heteroplasmy in the control region of human mitochondrial DNA C Santos, B Sierra, L Alvarez, A Ramos, E Fernández, R Nogués, ... Journal of molecular evolution 67 (2), 191-200, 2008 | 57 | 2008 |
| Nuclear insertions of mitochondrial origin: database updating and usefulness in cancer studies A Ramos, E Barbena, L Mateiu, M del Mar González, Q Mairal, M Lima, ... Mitochondrion 11 (6), 946-953, 2011 | 56 | 2011 |
| Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in Portugal M Lima, MC Costa, R Montiel, A Ferro, C Santos, C Silva, C Bettencourt, ... Human heredity 60 (3), 156-163, 2005 | 56 | 2005 |
| GBA mutations are associated with earlier onset and male sex in dementia with Lewy bodies A Gámez‐Valero, P Prada‐Dacasa, C Santos, C Adame‐Castillo, ... Movement Disorders 31 (7), 1066-1070, 2016 | 50 | 2016 |
| The decrease of β-synuclein in cortical brain areas defines a molecular subgroup of dementia with Lewy bodies K Beyer, M Domingo-Sàbat, C Santos, E Tolosa, I Ferrer, A Ariza Brain 133 (12), 3724-3733, 2010 | 50 | 2010 |
| Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report C Bettencourt, C Santos, P Coutinho, P Rizzu, J Vasconcelos, T Kay, ... BMC neurology 11 (1), 1-5, 2011 | 43 | 2011 |
| Mutation patterns of mtDNA: empirical inferences for the coding region C Santos, R Montiel, A Arruda, L Alvarez, MP Aluja, M Lima BMC Evolutionary Biology 8 (1), 1-12, 2008 | 39 | 2008 |
| The presence of nuclear families in prehistoric collective burials revisited: the bronze age burial of Montanissell Cave (Spain) in the light of aDNA M Simón, X Jordana, N Armentano, C Santos, N Díaz, E Solórzano, ... American journal of physical anthropology 146 (3), 406-413, 2011 | 37 | 2011 |
| Determination of human caucasian mitochondrial DNA haplogroups by means of a hierarchical approach C Santos, R Montiel, N Angles, M Lima, P Francalacci, A Malgosa, ... Human biology, 431-453, 2004 | 37 | 2004 |
| Sensitivity of mitochondrial DNA heteroplasmy detection using Next Generation Sequencing M del Mar González, A Ramos, MP Aluja, C Santos Mitochondrion 50, 88-93, 2020 | 34 | 2020 |
