| # | Title | Journal | Year | Citations |
|---|
| 1 | Distinctive Paleo-Indian Migration Routes from Beringia Marked by Two Rare mtDNA Haplogroups | Current Biology | 2009 | 738 |
| 2 | Correcting for Purifying Selection: An Improved Human Mitochondrial Molecular Clock | American Journal of Human Genetics | 2009 | 643 |
| 3 | The problem of aging human remains and living individuals: A review | Forensic Science International | 2009 | 486 |
| 4 | Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations | Human Molecular Genetics | 2006 | 346 |
| 5 | Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies | Journal of the American College of Cardiology | 2016 | 340 |
| 6 | Assessing individual interethnic admixture and population substructure using a 48-insertion-deletion (INSEL) ancestry-informative marker (AIM) panel | Human Mutation | 2010 | 301 |
| 7 | DNA from Pre-Clovis Human Coprolites in Oregon, North America | Science | 2008 | 283 |
| 8 | The Phylogeny of the Four Pan-American MtDNA Haplogroups: Implications for Evolutionary and Disease Studies | PLoS ONE | 2008 | 227 |
| 9 | The African Diaspora: Mitochondrial DNA and the Atlantic Slave Trade | American Journal of Human Genetics | 2004 | 213 |
| 10 | A Critical Reassessment of the Role of Mitochondria in Tumorigenesis | PLoS Medicine | 2005 | 188 |
| 11 | The Genetic Legacy of Religious Diversity and Intolerance: Paternal Lineages of Christians, Jews, and Muslims in the Iberian Peninsula | American Journal of Human Genetics | 2008 | 174 |
| 12 | Maternal traces of deep common ancestry and asymmetric gene flow between Pygmy hunter–gatherers and Bantu-speaking farmers | Proceedings of the National Academy of Sciences of the United States of America | 2008 | 157 |
| 13 | Inferring the Demographic History of African Farmers and Pygmy Hunter–Gatherers Using a Multilocus Resequencing Data Set | PLoS Genetics | 2009 | 142 |
| 14 | A practical guide to mitochondrial DNA error prevention in clinical, forensic, and population genetics | Biochemical and Biophysical Research Communications | 2005 | 138 |
| 15 | Mutation rates at Y chromosome specific microsatellites | Human Mutation | 2005 | 133 |
| 16 | Considerations from the European DNA profiling group (EDNAP) concerning STR nomenclature | Forensic Science International | 1997 | 113 |
| 17 | Phylogeographic investigations: The role of trees in forensic genetics | Forensic Science International | 2007 | 110 |
| 18 | Charting the Ancestry of African Americans | American Journal of Human Genetics | 2005 | 109 |
| 19 | Pseudomitochondrial genome haunts disease studies | Journal of Medical Genetics | 2008 | 106 |
| 20 | A GEP-ISFG collaborative study on the optimization of an X-STR decaplex: data on 15 Iberian and Latin American populations | International Journal of Legal Medicine | 2009 | 103 |
| 21 | Genetic origin, admixture, and asymmetry in maternal and paternal human lineages in Cuba | BMC Evolutionary Biology | 2008 | 101 |
| 22 | Neurons in the white matter of the adult human neocortex | Frontiers in Neuroanatomy | 2009 | 100 |
| 23 | Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes | Human Genetics | 2006 | 92 |
| 24 | A reappraisal of complete mtDNA variation in East Asian families with hearing impairment | Human Genetics | 2006 | 87 |
| 25 | Exaggerated status of “novel” and “pathogenic” mtDNA sequence variants due to inadequate database searches | Human Mutation | 2009 | 79 |
| 26 | Coding region mitochondrial DNA SNPs: Targeting East Asian and Native American haplogroups | Forensic Science International: Genetics | 2007 | 78 |
| 27 | Micro-Phylogeographic and Demographic History of Portuguese Male Lineages | Annals of Human Genetics | 2006 | 76 |
| 28 | New Population and Phylogenetic Features of the Internal Variation within Mitochondrial DNA Macro-Haplogroup R0 | PLoS ONE | 2009 | 75 |
| 29 | Low “penetrance” of phylogenetic knowledge in mitochondrial disease studies | Biochemical and Biophysical Research Communications | 2005 | 74 |
| 30 | Insights into the western Bantu dispersal: mtDNA lineage analysis in Angola | Human Genetics | 2004 | 70 |
| 31 | Association study of 44 candidate genes with depressive and anxiety symptoms in post-partum women | Journal of Psychiatric Research | 2010 | 69 |
| 32 | Evaluating the Ability of Tree‐Based Methods and Logistic Regression for the Detection of SNP‐SNP Interaction | Annals of Human Genetics | 2009 | 66 |
| 33 | Problems in FBI mtDNA Database | Science | 2004 | 64 |
| 34 | mtDNA Data Mining in GenBank Needs Surveying | American Journal of Human Genetics | 2009 | 63 |
| 35 | Gender bias in the multiethnic genetic composition of central Argentina | Journal of Human Genetics | 2008 | 62 |
| 36 | Mitochondrial Haplogroup U5b3: A Distant Echo of the Epipaleolithic in Italy and the Legacy of the Early Sardinians | American Journal of Human Genetics | 2009 | 62 |
| 37 | Gene and protein alterations of FKBP5 and glucocorticoid receptor in the amygdala of suicide victims | Psychoneuroendocrinology | 2013 | 62 |
| 38 | Inhibition of brain monoamine oxidase activity by the generation of hydroxyl radicals Potential implications in relation to oxidative stress | Life Sciences | 2001 | 61 |
| 39 | What is a ‘novel’ mtDNA mutation – and does ‘novelty’ really matter? | Journal of Human Genetics | 2006 | 61 |
| 40 | The recent spread of a vertically transmitted virus through populations of Drosophila melanogaster | Molecular Ecology | 2007 | 61 |
| 41 | A Bidirectional Corridor in the Sahel-Sudan Belt and the Distinctive Features of the Chad Basin Populations: A History Revealed by the Mitochondrial DNA Genome | Annals of Human Genetics | 2007 | 61 |
| 42 | Hair: a complementary source of bioanalytical information in forensic toxicology | Bioanalysis | 2011 | 61 |
| 43 | ERCC4 Associated with Breast Cancer Risk: A Two-Stage Case-Control Study Using High-throughput Genotyping | Cancer Research | 2006 | 58 |
| 44 | High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect | Clinical Endocrinology | 2006 | 53 |
| 45 | Shipwrecks and founder effects: Divergent demographic histories reflected in Caribbean mtDNA | American Journal of Physical Anthropology | 2005 | 52 |
| 46 | Analysis of the CODIS autosomal STR loci in four main Colombian regions | Forensic Science International | 2003 | 49 |
| 47 | Linking the sub-Saharan and West Eurasian gene pools: maternal and paternal heritage of the Tuareg nomads from the African Sahel | European Journal of Human Genetics | 2010 | 47 |
| 48 | Exploratory study on the psychological impact of COVID-19 on the general Brazilian population | PLoS ONE | 2021 | 47 |
| 49 | Distilling Artificial Recombinants from Large Sets of Complete mtDNA Genomes | PLoS ONE | 2008 | 46 |
| 50 | Simultaneous quantitation of morphine, 6-acetylmorphine, codeine, 6-acetylcodeine and tramadol in hair using mixed-mode solid-phase extraction and gas chromatography–mass spectrometry | Analytical and Bioanalytical Chemistry | 2010 | 46 |
