| # | Title | Journal | Year | Citations |
|---|
| 1 | Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability | Nature Genetics | 2006 | 344 |
| 2 | Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation | Human Mutation | 2007 | 263 |
| 3 | WNT5A mutations in patients with autosomal dominant Robinow syndrome | Developmental Dynamics | 2010 | 214 |
| 4 | Clinical and molecular delineation of the 17q21.31 microdeletion syndrome | Journal of Medical Genetics | 2008 | 191 |
| 5 | Mapping Bias Overestimates Reference Allele Frequencies at the HLA Genes in the 1000 Genomes Project Phase I Data | G3: Genes, Genomes, Genetics | 2015 | 164 |
| 6 | Quality control guidelines for clinical-grade human induced pluripotent stem cell lines | Regenerative Medicine | 2018 | 147 |
| 7 | A genomic perspective on HLA evolution | Immunogenetics | 2018 | 139 |
| 8 | Autophagy in Stem Cell Maintenance and Differentiation | Stem Cells and Development | 2012 | 128 |
| 9 | Genomic imbalances associated with mullerian aplasia | Journal of Medical Genetics | 2007 | 110 |
| 10 | Geographic heterogeneity in the prevalence of human papillomavirus in head and neck cancer | International Journal of Cancer | 2017 | 104 |
| 11 | Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations | Cytogenetic and Genome Research | 2006 | 103 |
| 12 | Signatures of Long-Term Balancing Selection in Human Genomes | Genome Biology and Evolution | 2018 | 100 |
| 13 | Diversifying Incomes and Losing Landscape Complexity in Quilombola Shifting Cultivation Communities of the Atlantic Rainforest (Brazil) | Human Ecology | 2013 | 87 |
| 14 | Mutations in the Intellectual Disability Gene Ube2a Cause Neuronal Dysfunction and Impair Parkin-Dependent Mitophagy | Molecular Cell | 2013 | 80 |
| 15 | Early X chromosome inactivation during human preimplantation development revealed by single-cell RNA-sequencing | Scientific Reports | 2017 | 78 |
| 16 | The role of DNA repair in the pluripotency and differentiation of human stem cells | Mutation Research - Reviews in Mutation Research | 2013 | 75 |
| 17 | Expression estimation and eQTL mapping for HLA genes with a personalized pipeline | PLoS Genetics | 2019 | 75 |
| 18 | Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion | European Journal of Human Genetics | 2007 | 73 |
| 19 | Two ancient human genomes reveal Polynesian ancestry among the indigenous Botocudos of Brazil | Current Biology | 2014 | 73 |
| 20 | Structural variation in the human genome: the impact of copy number variants on clinical diagnosis | Genetics in Medicine | 2007 | 72 |
| 21 | Kiwi genome provides insights into evolution of a nocturnal lifestyle | Genome Biology | 2015 | 68 |
| 22 | Beekeeping practices and geographic distance, not land use, drive gene flow across tropical bees | Molecular Ecology | 2016 | 66 |
| 23 | Complement System in Brain Architecture and Neurodevelopmental Disorders | Frontiers in Neuroscience | 2020 | 66 |
| 24 | Epigenetics insights into chronic pain: DNA hypomethylation in fibromyalgia—a controlled pilot-study | Pain | 2017 | 65 |
| 25 | Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion ofWNT-4,RAR-gamma, andRXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women | American Journal of Medical Genetics, Part A | 2006 | 64 |
| 26 | The crossroads of breast cancer progression: insights into the modulation of major signaling pathways | OncoTargets and Therapy | 2017 | 56 |
| 27 | Gene Co-expression Analysis Indicates Potential Pathways and Regulators of Beef Tenderness in Nellore Cattle | Frontiers in Genetics | 2018 | 54 |
| 28 | miR‐367 promotes proliferation and stem‐like traits in medulloblastoma cells | Cancer Science | 2015 | 53 |
| 29 | Dynamic sex chromosome expression in Drosophila male germ cells | Nature Communications | 2021 | 53 |
| 30 | Mesenchymal bone marrow stem cells within polyglycolic acid tube observed in vivo after six weeks enhance facial nerve regeneration | Brain Research | 2013 | 49 |
| 31 | Ethics of DNA research on human remains: five globally applicable guidelines | Nature | 2021 | 49 |
| 32 | Effect of pneumococcal conjugate vaccine introduction on childhood pneumonia mortality in Brazil: a retrospective observational study | The Lancet Global Health | 2019 | 48 |
| 33 | Deletion of the Basement Membrane Heparan Sulfate Proteoglycan Type XVIII Collagen Causes Hypertriglyceridemia in Mice and Humans | PLoS ONE | 2010 | 46 |
| 34 | Study of small proline-rich proteins (SPRRs) in health and disease: a review of the literature | Archives of Dermatological Research | 2013 | 46 |
| 35 | A multiple peak adaptive landscape based on feeding strategies and roosting ecology shaped the evolution of cranial covariance structure and morphological differentiation in phyllostomid bats | Evolution; International Journal of Organic Evolution | 2019 | 46 |
| 36 | Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity | Genetics in Medicine | 2015 | 45 |
| 37 | Two distinct regions in 2q24.2‐q24.3 associated with idiopathic epilepsy | Epilepsia | 2010 | 43 |
| 38 | The Relevance ofHLASequencing in Population Genetics Studies | Journal of Immunology Research | 2014 | 43 |
| 39 | Intense natural selection preceded the invasion of new adaptive zones during the radiation of New World leaf-nosed bats | Scientific Reports | 2017 | 43 |
| 40 | Phylogenetic nomenclature and evolution of mannose-binding lectin (MBL2) haplotypes | BMC Genetics | 2010 | 42 |
| 41 | HLA supertype variation across populations: new insights into the role of natural selection in the evolution of HLA-A and HLA-B polymorphisms | Immunogenetics | 2015 | 42 |
| 42 | EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome | Human Molecular Genetics | 2017 | 42 |
| 43 | Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles | American Journal of Medical Genetics, Part A | 2019 | 42 |
| 44 | Non-homologous sex chromosomes in two species of the genus Eigenmannia (Teleostei: Gymnotiformes) | Cytogenetic and Genome Research | 2008 | 41 |
| 45 | Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome | American Journal of Human Genetics | 2021 | 41 |
| 46 | Stem cells from umbilical cord blood differentiate into myotubes and express dystrophin in vitro only after exposure to in vivo muscle environment | Biology of the Cell | 2007 | 40 |
| 47 | Presence of high-risk clones of OXA-23-producing Acinetobacter baumannii (ST79) and SPM-1-producing Pseudomonas aeruginosa (ST277) in environmental water samples in Brazil | Diagnostic Microbiology and Infectious Disease | 2016 | 39 |
| 48 | Adult and iPS-derived non-parenchymal cells regulate liver organoid development through differential modulation of Wnt and TGF-β | Stem Cell Research and Therapy | 2019 | 37 |
| 49 | Human auditory ossicles as an alternative optimal source of ancient DNA | Genome Research | 2020 | 37 |
| 50 | Differential DNA Methylation of MicroRNA Genes in Temporal Cortex from Alzheimer’s Disease Individuals | Neural Plasticity | 2016 | 36 |
