A common inversion under selection in Europeans.
paper
Cited
Public
Unavailable
- Authors
- Stefansson, Hreinn; Helgason, Agnar; Thorleifsson, Gudmar; Steinthorsdottir, Valgerdur; Masson, Gisli; Barnard, John; Baker, Adam; Jonasdottir, Aslaug; Ingason, Andres; Gudnadottir, Vala G; Desnica, Natasa; Hicks, Andrew; Gylfason, Arnaldur; Gudbjartsson, Daniel F; Jonsdottir, Gudrun M; Sainz, Jesus; Agnarsson, Kari; Birgisdottir, Birgitta; Ghosh, Shyamali; Olafsdottir, Adalheidur; Cazier, Jean-Baptiste; Kristjansson, Kristleifur; Frigge, Michael L; Thorgeirsson, Thorgeir E; Gulcher, Jeffrey R; Kong, Augustine; Stefansson, Kari
- Year
- 2005
- Journal
- Nature genetics
- PMID
- 15654335
- DOI
- 10.1038/ng1508
A refined physical map of chromosome 17q21.31 uncovered a 900-kb inversion polymorphism. Chromosomes with the inverted segment in different orientations represent two distinct lineages, H1 and H2, that have diverged for as much as 3 million years and show no evidence of having recombined. The H2 lineage is rare in Africans, almost absent in East Asians but found at a frequency of 20% in Europeans, in whom the haplotype structure is indicative of a history of positive selection. Here we show that the H2 lineage is undergoing positive selection in the Icelandic population, such that carrier females have more children and have higher recombination rates than noncarriers.
No figures extracted from this document.
No chunks β full text not yet ingested.
No entities extracted from this document yet.
No uploaded files.
Not in any collection.
No citations found.
In this knowledge base
External
| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| Cosmopolitan inversions have a major impact on trait variation and the power of different GWAS approaches to identify associations. | Lenhart BA et al. | β | 2026 | β |
| Extraordinary diversity of antiviral immune-related gene families across 38 bat species. | Liu G et al. | β | 2026 | β |
| The Karnataka Individual Genome Project expands the human reference landscape to include South Asia. | Ganesh A et al. | β | 2026 | β |
| The poplar pathogen <i>Sphaerulina musiva</i> has a dynamic genome architecture marked by chromosomal inversions and changes in transposable element abundance. | Zaccaron AZ et al. | β | 2026 | β |
| TP53/TAU axis regulates microtubule bundling to control alveolar stem cell-mediated regeneration. | Konishi S et al. | β | 2026 | β |
| Whole genome sequence analysis of pulmonary function and COPD in 44,287 multi-ancestry participants. | Kim W et al. | β | 2026 | β |
| Acquisition of ampliconic sequences marks a selfish mouse t-haplotype. | Swanepoel CM et al. | β | 2025 | β |
| A structural haplotype in the 17q21.31 MAPT region is associated with increased risk for chronic traumatic encephalopathy endophenotypes. | Han X et al. | β | 2025 | β |
| Characterization of non-coding variants associated with transcription-factor binding through ATAC-seq-defined footprint QTLs in liver. | Dudek MF et al. | β | 2025 | β |
| Diversity and consequences of structural variation in the human genome. | Collins RL et al. | β | 2025 | β |
| Genetic Risk of Different Populations in COVID-19 Susceptibility and Severity. | Sun N et al. | β | 2025 | β |
| Genome-wide analysis of brain age identifies 59 associated loci and unveils relationships with mental and physical health. | Jawinski P et al. | β | 2025 | β |
| <i>MAPT</i> Subhaplotypes in Different Progressive Supranuclear Palsy Phenotypes. | Gagliardi M et al. | β | 2025 | β |
| Multiple-testing corrections in selection scans using identity-by-descent segments. | Temple SD et al. | β | 2025 | β |
| Recent Advances in Co-Condensation and Co-Aggregation of Amyloid Proteins Linked to Neurodegenerative Diseases. | Zhang X et al. | β | 2025 | β |
| Structural variation, selection, and diversification of the NPIP gene family from the human pangenome. | Dishuck PC et al. | β | 2025 | β |
| Targeting tau in Alzheimer's and beyond: Insights into pathology and therapeutic strategies. | Singh S et al. | β | 2025 | β |
| The Length of Haplotype Blocks and Signals of Structural Variation in Reconstructed Genealogies. | Ignatieva A et al. | β | 2025 | β |
| A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. | Awamleh Z et al. | β | 2024 | β |
| Autoencoder-based phenotyping of ophthalmic images highlights genetic loci influencing retinal morphology and provides informative biomarkers. | Sergouniotis PI et al. | β | 2024 | β |
| Critical reasoning on the co-expression module QTL in the dorsolateral prefrontal cortex. | Cote AC et al. | β | 2024 | β |
| Endoplasmic reticulum stress and its role in various neurodegenerative diseases. | Singh R et al. | β | 2024 | β |
| Exploring the Genetic Heterogeneity of Alzheimer's Disease: Evidence for Genetic Subtypes. | Elman JA et al. | β | 2024 | β |
| Gene replacement-Alzheimer's disease (GR-AD): Modeling the genetics of human dementias in mice. | Benzow K et al. | β | 2024 | β |
| Genetic diversity of North African populations in the 17q21 genomic region. | Messaoudi M et al. | β | 2024 | β |
| Haplotype-Based Approach Represents Locus Specificity in the Genomic Diversification Process in Humans (<i>Homo sapiens</i>). | Shimada MK et al. | β | 2024 | β |
| IgLON5-IgG: Innocent Bystander or Perpetrator? | Andersen J et al. | β | 2024 | β |
| Lineage-specific splicing regulation of MAPT gene in the primate brain. | Recinos Y et al. | β | 2024 | β |
| The selection landscape and genetic legacy of ancient Eurasians. | Irving-Pease EK et al. | β | 2024 | β |
| The six brain-specific TAU isoforms and their role in Alzheimer's disease and related neurodegenerative dementia syndromes. | Buchholz S et al. | β | 2024 | β |
| Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases. | Pedicone C et al. | β | 2024 | β |
| An Ancestral Balanced Inversion Polymorphism Confers Global Adaptation. | Kapun M et al. | β | 2023 | β |
| Candidate gene-environment interactions in substance abuse: A systematic review. | Jiang Z et al. | β | 2023 | β |
| Chromosomal inversion polymorphisms shape human brain morphology. | Wang H et al. | β | 2023 | β |
| Different MAPT haplotypes influence expression of total MAPT in postmortem brain tissue. | Tauber CV et al. | β | 2023 | β |
| Genetic Architecture of Primary Tauopathies. | Gallo D et al. | β | 2023 | β |
| Genetic Associations with Coronavirus Susceptibility and Disease Severity. | Barmania F et al. | β | 2023 | β |
| Genomic structural variation: A complex but important driver of human evolution. | Soto DC et al. | β | 2023 | β |
| High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing. | Yilmaz F et al. | β | 2023 | β |
| How chromosomal inversions reorient the evolutionary process. | Berdan EL et al. | β | 2023 | β |
| <i>MAPT</i> Locus in Parkinson's Disease Patients of Ashkenazi Origin: A Stratified Analysis. | Shani S et al. | β | 2023 | β |
| Integrating Genetics, Transcriptomics, and Proteomics in Lung Tissue to Investigate Chronic Obstructive Pulmonary Disease. | Zhang YH et al. | β | 2023 | β |
| Male-pattern hair loss: Comprehensive identification of the associated genes as a basis for understanding pathophysiology. | Henne SK et al. | β | 2023 | β |
| Mendelian Randomization and Transcriptome-Wide Association Analysis Identified Genes That Were Pleiotropically Associated with Intraocular Pressure. | Yang Z et al. | β | 2023 | β |
| Neolithic expansion and the 17q21.31 inversion in Iberia: an evolutionary approach to H2 haplotype distribution in the Near East and Europe. | Espinosa I et al. | β | 2023 | β |
| Parkinson's disease - genetic cause. | Cherian A et al. | β | 2023 | β |
| Pathomechanisms of cognitive impairment in progressive supranuclear palsy. | Jellinger KA | β | 2023 | β |
| Protein network analysis links the NSL complex to Parkinson's disease <i>via</i> mitochondrial and nuclear biology. | Kelly K et al. | β | 2023 | β |
| The clinical phenotype of Koolen-de Vries syndrome in Turkish patients and literature review. | Karamik G et al. | β | 2023 | β |
| A chromosomal inversion contributes to divergence in multiple traits between deer mouse ecotypes. | Hager ER et al. | β | 2022 | β |
| Association Between Brain Structure and Alcohol Use Behaviors in Adults: A Mendelian Randomization and Multiomics Study. | Mavromatis LA et al. | β | 2022 | β |
| Association between H2 haplotype of microtubule associated protein tau gene (deletion / insertion) with Alzheimer Disease in Tunisian patients. | Fray S et al. | β | 2022 | β |
| Association mapping of colour variation in a butterfly provides evidence that a supergene locks together a cluster of adaptive loci. | Jay P et al. | β | 2022 | β |
| Association studies between chromosomal regions 1q21.3, 5q21.3, 14q21.2 and 17q21.31 and numbers of children in Poland. | Clark JSC et al. | β | 2022 | β |
| Comparative linkage mapping uncovers recombination suppression across massive chromosomal inversions associated with local adaptation in Atlantic silversides. | Akopyan M et al. | β | 2022 | β |
| COVID-19 in pediatrics: Genetic susceptibility. | Glessner JT et al. | β | 2022 | β |
| Current directions in tau research: Highlights from Tau 2020. | Sexton C et al. | β | 2022 | β |
| Detailed stratified GWAS analysis for severe COVID-19 in four European populations. | Degenhardt F et al. | β | 2022 | β |
| Diverse selection pressures shaping the genetic architecture of behΓ§et disease susceptibility. | Sezgin E et al. | β | 2022 | β |
| Genome structural variation in human evolution. | Hollox EJ et al. | β | 2022 | β |
| Genomic architecture and functional effects of potential human inversion supergenes. | Campoy E et al. | β | 2022 | β |
| Intellectual enrichment and genetic modifiers of cognition and brain volume in Huntington's disease. | Papoutsi M et al. | β | 2022 | β |
| Meiotic drive in house mice: mechanisms, consequences, and insights for human biology. | Arora UP et al. | β | 2022 | β |
| Phosphorylated Tau in Alzheimer's Disease and Other Tauopathies. | Rawat P et al. | β | 2022 | β |
| Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders. | Porubsky D et al. | β | 2022 | β |
| Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at 16q11.2 and MAPT H1 loci. | Soutar MPM et al. | β | 2022 | β |
| The early-life exposome modulates the effect of polymorphic inversions on DNA methylation. | Carreras-Gallo N et al. | β | 2022 | β |
| The influence of 17q21.31 and <i>APOE</i> genetic ancestry on neurodegenerative disease risk. | Harerimana NV et al. | β | 2022 | β |
| Thirty novel sequence variants impacting human intracranial volume. | Nawaz MS et al. | β | 2022 | β |
| TIGAR-V2: Efficient TWAS tool with nonparametric Bayesian eQTL weights of 49 tissue types from GTEx V8. | Parrish RL et al. | β | 2022 | β |
| A chromosome-level genome assembly of Cairina moschata and comparative genomic analyses. | Jiang F et al. | β | 2021 | β |
| An approach to gene-based testing accounting for dependence of tests among nearby genes. | Yurko R et al. | β | 2021 | β |
| Cellular and pathological heterogeneity of primary tauopathies. | Chung DC et al. | β | 2021 | β |
| Genetic Variation in WNT9B Increases Relapse Hazard in Multiple Sclerosis. | Vandebergh M et al. | β | 2021 | β |
| Genome-Wide Association Studies of Schizophrenia and Bipolar Disorder in a Diverse Cohort of US Veterans. | Bigdeli TB et al. | β | 2021 | β |
| Genomics of Recombination Rate Variation in Temperature-Evolved Drosophila melanogaster Populations. | Winbush A et al. | β | 2021 | β |
| <i>APOE</i> and <i>MAPT</i> Are Associated With Dementia in Neuropathologically Confirmed Parkinson's Disease. | Tunold JA et al. | β | 2021 | β |
| Inversion breakpoints and the evolution of supergenes. | Villoutreix R et al. | β | 2021 | β |
| InvertypeR: Bayesian inversion genotyping with Strand-seq data. | Hanlon VCT et al. | β | 2021 | β |
| iPS Cell-Based Model for <i>MAPT</i> Haplotype as a Risk Factor for Human Tauopathies Identifies No Major Differences in TAU Expression. | StrauΓ T et al. | β | 2021 | β |
| Mapping the human genetic architecture of COVID-19. | COVID-19 Host Genetics Initiative | β | 2021 | β |
| Multi-omics integration analysis identifies novel genes for alcoholism with potential overlap with neurodegenerative diseases. | Kapoor M et al. | β | 2021 | β |
| Mutation load at a mimicry supergene sheds new light on the evolution of inversion polymorphisms. | Jay P et al. | β | 2021 | β |
| Personalized genome structure via single gamete sequencing. | Lyu R et al. | β | 2021 | β |
| Tau and MAPT genetics in tauopathies and synucleinopathies. | Leveille E et al. | β | 2021 | β |
| Tau in the Pathophysiology of Parkinson's Disease. | Pan L et al. | β | 2021 | β |
| The genetic case for cardiorespiratory fitness as a clinical vital sign and the routine prescription of physical activity in healthcare. | Hanscombe KB et al. | β | 2021 | β |
| Transcript Variants of Genes Involved in Neurodegeneration Are Differentially Regulated by the APOE and MAPT Haplotypes. | Koks S et al. | β | 2021 | β |
| Analysis of Natural Selection of Immune Genes in <i>Spinibarbus caldwelli</i> by Transcriptome Sequencing. | Tuo Y et al. | β | 2020 | β |
| Chromosome and Genome Divergence between the Cryptic Eurasian Malaria Vector-Species <i>Anopheles messeae</i> and <i>Anopheles daciae</i>. | Naumenko AN et al. | β | 2020 | β |
| Determining the impact of uncharacterized inversions in the human genome by droplet digital PCR. | Puig M et al. | β | 2020 | β |
| Eight million years of maintained heterozygosity in chromosome homologs of cercopithecine monkeys. | Tolomeo D et al. | β | 2020 | β |
| Functional validity, role, and implications of heavy alcohol consumption genetic loci. | Thompson A et al. | β | 2020 | β |
| Gene regulatory effects of a large chromosomal inversion in highland maize. | Crow T et al. | β | 2020 | β |
| Identifying chromosomal subpopulations based on their recombination histories advances the study of the genetic basis of phenotypic traits. | Ruiz-Arenas C et al. | β | 2020 | β |
| Inside the supergene of the bird with four sexes. | Maney DL et al. | β | 2020 | β |
| MAPT subhaplotypes in corticobasal degeneration: assessing associations with disease risk, severity of tau pathology, and clinical features. | Valentino RR et al. | β | 2020 | β |
| Moderate Overexpression of Tau in Drosophila Exacerbates Amyloid-Ξ²-Induced Neuronal Phenotypes and Correlates with Tau Oligomerization. | Miguel L et al. | β | 2020 | β |
| Other genomic disorders and congenital heart disease. | Lalani SR | β | 2020 | β |
| Prion-Like Propagation Mechanisms in Tauopathies and Traumatic Brain Injury: Challenges and Prospects. | Alyenbaawi H et al. | β | 2020 | β |
| Probabilistic Estimation of Identity by Descent Segment Endpoints and Detection of Recent Selection. | Browning SR et al. | β | 2020 | β |
| Recent Efforts to Dissect the Genetic Basis of Alcohol Use and Abuse. | Sanchez-Roige S et al. | β | 2020 | β |
| Sex Differences in the Recombination Landscape. | Sardell JM et al. | β | 2020 | β |
| Single-cell epigenomic analyses implicate candidate causal variants at inherited risk loci for Alzheimer's and Parkinson's diseases. | Corces MR et al. | β | 2020 | β |
| Tau proteinopathies and the prion concept. | Goedert M | β | 2020 | β |
| The genomic basis of mood instability: identification of 46 loci in 363,705 UK Biobank participants, genetic correlation with psychiatric disorders, and association with gene expression and function. | Ward J et al. | β | 2020 | β |
| The Landscape of Micro-Inversions Provide Clues for Population Genetic Analysis of Humans. | Qu L et al. | β | 2020 | β |
| WITHDRAWN: Genetics of Parkinson's disease. | Lill CM | β | 2020 | β |
| Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes. | Hsieh P et al. | β | 2019 | β |
| Altered Levels and Isoforms of Tau and Nuclear Membrane Invaginations in Huntington's Disease. | FernΓ‘ndez-Nogales M et al. | β | 2019 | β |
| Assessment of risk factor variants of LRRK2, MAPT, SNCA and TCEANC2 genes in Hungarian sporadic Parkinson's disease patients. | Boros FA et al. | β | 2019 | β |
| Association of MAPT H1 subhaplotypes with neuropathology of lewy body disease. | Heckman MG et al. | β | 2019 | β |
| Association of MAPT Subhaplotypes With Risk of Progressive Supranuclear Palsy and Severity of Tau Pathology. | Heckman MG et al. | β | 2019 | β |
| Bayesian meta-analysis across genome-wide association studies of diverse phenotypes. | Trochet H et al. | β | 2019 | β |
| Brain age prediction using deep learning uncovers associated sequence variants. | Jonsson BA et al. | β | 2019 | β |
| Cellular and regional vulnerability in frontotemporal tauopathies. | Forrest SL et al. | β | 2019 | β |
| Evolutionary and functional impact of common polymorphic inversions in the human genome. | Giner-Delgado C et al. | β | 2019 | β |
| Frontrunner in Translation: Progressive Supranuclear Palsy. | Shoeibi A et al. | β | 2019 | β |
| Genetic Control of Expression and Splicing in Developing Human Brain Informs Disease Mechanisms. | Walker RL et al. | β | 2019 | β |
| Genome-wide Association Study of Maximum Habitual Alcohol Intake in >140,000 U.S. European and African American Veterans Yields Novel Risk Loci. | Gelernter J et al. | β | 2019 | β |
| Genome-wide association study of post-traumatic stress disorder reexperiencing symptoms in >165,000 US veterans. | Gelernter J et al. | β | 2019 | β |
| Genomic Analysis in the Age of Human Genome Sequencing. | Lappalainen T et al. | β | 2019 | β |
| H1/H2 MAPT haplotype and Parkinson's disease in Mexican mestizo population. | Miranda-Morales EG et al. | β | 2019 | β |
| How chromosomal rearrangements shape adaptation and speciation: Case studies in Drosophila pseudoobscura and its sibling species Drosophila persimilis. | Fuller ZL et al. | β | 2019 | β |
| Human core duplicon gene families: game changers or game players? | Bekpen C et al. | β | 2019 | β |
| Molecular Pathogenesis of the Tauopathies. | GΓΆtz J et al. | β | 2019 | β |
| Novel Insight Into the Etiology of Autism Spectrum Disorder Gained by Integrating Expression Data With Genome-wide Association Statistics. | Pain O et al. | β | 2019 | β |
| Ordered Assembly of Tau Protein and Neurodegeneration. | Goedert M et al. | β | 2019 | β |
| Quantifying the relative contributions of the X chromosome, autosomes, and mitochondrial genome to local adaptation. | Lasne C et al. | β | 2019 | β |
| scoreInvHap: Inversion genotyping for genome-wide association studies. | Ruiz-Arenas C et al. | β | 2019 | β |
| Sex chromosome inversions enforce reproductive isolation across an avian hybrid zone. | Hooper DM et al. | β | 2019 | β |
| Tau and TDP-43 proteinopathies: kindred pathologic cascades and genetic pleiotropy. | Chornenkyy Y et al. | β | 2019 | β |
| Tau Biology, Tauopathy, Traumatic Brain Injury, and Diagnostic Challenges. | Castellani RJ et al. | β | 2019 | β |
| The adaptive significance of chromosomal inversion polymorphisms in Drosophila melanogaster. | Kapun M et al. | β | 2019 | β |
| The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals. | Giannuzzi G et al. | β | 2019 | β |
| The intramembrane protease SPPL2c promotes male germ cell development by cleavingΒ phospholamban. | Niemeyer J et al. | β | 2019 | β |
| The molecular genealogy of sequential overlapping inversions implies both homologous chromosomes of a heterokaryotype in an inversion origin. | Orengo DJ et al. | β | 2019 | β |
| Association of microtubule-associated protein tau gene polymorphisms with the risk of sporadic Alzheimer's disease: a meta-analysis. | Yuan H et al. | β | 2018 | β |
| A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk. | Lu Y et al. | β | 2018 | β |
| BAMSI: a multi-cloud service for scalable distributed filtering of massive genome data. | Ausmees K et al. | β | 2018 | β |
| Chromosomal inversions as a hidden disease-modifying factor for somatic recombination phenotypes. | Nomura T et al. | β | 2018 | β |
| Distinct Conformers of Assembled Tau in Alzheimer's and Pick's Diseases. | Goedert M et al. | β | 2018 | β |
| Eco-Evolutionary Genomics of Chromosomal Inversions. | Wellenreuther M et al. | β | 2018 | β |
| Expression quantitative trait loci in the developing human brain and their enrichment in neuropsychiatric disorders. | O'Brien HE et al. | β | 2018 | β |
| Functional and evolutionary impact of polymorphic inversions in the human genome | Giner-Delgado C et al. | β | 2018 | β |
| Global genetic differentiation of complex traits shaped by natural selection in humans. | Guo J et al. | β | 2018 | β |
| GWAS identifies 14 loci for device-measured physical activity and sleep duration. | Doherty A et al. | β | 2018 | β |
| <i>Drosophila</i> Models of Sporadic Parkinson's Disease. | Nagoshi E | β | 2018 | β |
| Integrative system biology analyses of CRISPR-edited iPSC-derived neurons and human brains reveal deficiencies of presynaptic signaling in FTLD and PSP. | Jiang S et al. | β | 2018 | β |
| Inversion variants in human and primate genomes. | Catacchio CR et al. | β | 2018 | β |
| npInv: accurate detection and genotyping of inversions using long read sub-alignment. | Shao H et al. | β | 2018 | β |
| Review: Neurodegenerative processes in temporal lobe epilepsy with hippocampal sclerosis: Clinical, pathological and neuroimaging evidence. | Tai XY et al. | β | 2018 | β |
| Systems genetic analysis of inversion polymorphisms in the malaria mosquito <i>Anopheles gambiae</i>. | Cheng C et al. | β | 2018 | β |
| Tau filaments in neurodegenerative diseases. | Goedert M | β | 2018 | β |
| Tau haplotypes support the Asian ancestry of the Roma population settled in the Basque Country. | Alfonso-SΓ‘nchez MA et al. | β | 2018 | β |
| The Association of rs1670533 Polymorphism in RNF212 Gene With the Risk of Down Syndrome in Young Women. | Davari-Tanha F et al. | β | 2018 | β |
| The Neutral Theory in Light of Natural Selection. | Kern AD et al. | β | 2018 | β |
| Untangling the tauopathies: Current concepts of tau pathology and neurodegeneration. | Ling H | β | 2018 | β |
| Characterization of fusion genes in common and rare epithelial ovarian cancer histologic subtypes. | Earp MA et al. | β | 2017 | β |
| Chromosomal polymorphism in mammals: an evolutionary perspective. | Dobigny G et al. | β | 2017 | β |
| Chromosome inversions and ecological plasticity in the main African malaria mosquitoes. | Ayala D et al. | β | 2017 | β |
| Connecting theory and data to understand recombination rate evolution. | Dapper AL et al. | β | 2017 | β |
| Detailed analysis of inversions predicted between two human genomes: errors, real polymorphisms, and their origin and population distribution. | Vicente-Salvador D et al. | β | 2017 | β |
| Discovery of large genomic inversions using long range information. | Eslami Rasekh M et al. | β | 2017 | β |
| Ethnically Tibetan women in Nepal with low hemoglobin concentration have better reproductive outcomes. | Cho JI et al. | β | 2017 | β |
| Genome-wide analysis of structural variants reveals genetic differences in Chinese pigs. | Yang R et al. | β | 2017 | β |
| Genomics of natural populations: Evolutionary forces that establish and maintain gene arrangements in Drosophila pseudoobscura. | Fuller ZL et al. | β | 2017 | β |
| GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium. | Trampush JW et al. | β | 2017 | β |
| Haplotype-specific MAPT exon 3 expression regulated by common intronic polymorphisms associated with Parkinsonian disorders. | Lai MC et al. | β | 2017 | β |
| Interactions of pathological proteins in neurodegenerative diseases. | Spires-Jones TL et al. | β | 2017 | β |
| Local adaptation along an environmental cline in a species with an inversion polymorphism. | Wellenreuther M et al. | β | 2017 | β |
| Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements. | Demaerel W et al. | β | 2017 | β |
| Propagation of Tau aggregates. | Goedert M et al. | β | 2017 | β |
| Propagation of Tau Aggregates and Neurodegeneration. | Goedert M et al. | β | 2017 | β |
| Recombination rate variation in mice from an isolated island. | Wang RJ et al. | β | 2017 | β |
| Refined genetic maps reveal sexual dimorphism in human meiotic recombination at multiple scales. | BhΓ©rer C et al. | β | 2017 | β |
| Selection against variants in the genome associated with educational attainment. | Kong A et al. | β | 2017 | β |
| The Effect of Common Inversion Polymorphisms <i>In(2L)t</i> and <i>In(3R)Mo</i> on Patterns of Transcriptional Variation in <i>Drosophila melanogaster</i>. | Lavington E et al. | β | 2017 | β |
| The <i>Anopheles gambiae</i> 2La chromosome inversion is associated with susceptibility to <i>Plasmodium falciparum</i> in Africa. | Riehle MM et al. | β | 2017 | β |
| The role of high-field magnetic resonance imaging in parkinsonian disorders: Pushing the boundaries forward. | Lehericy S et al. | β | 2017 | β |
| Variation in recombination frequency and distribution across eukaryotes: patterns and processes. | Stapley J et al. | β | 2017 | β |
| Variation in Recombination Rate: Adaptive or Not? | Ritz KR et al. | β | 2017 | β |
| A Highly Polymorphic Copy Number Variant in the NSF Gene is Associated with Cocaine Dependence. | Cabana-DomΓnguez J et al. | β | 2016 | β |
| A Polymorphic Antioxidant Response Element Links NRF2/sMAF Binding to Enhanced MAPT Expression and Reduced Risk of Parkinsonian Disorders. | Wang X et al. | β | 2016 | β |
| Cardiac CRFR1 Expression Is Elevated in Human Heart Failure and Modulated by Genetic Variation and Alternative Splicing. | Pilbrow AP et al. | β | 2016 | β |
| Characterizing polymorphic inversions in human genomes by single-cell sequencing. | Sanders AD et al. | β | 2016 | β |
| Commentary: The central questions of human genetics: Richard Lewontin's 1968 senior lecture in Victor McKusick's Bar Harbor short course. | Chakravarti A | β | 2016 | β |
| Constrained variant detection with SPaRC: Sparsity, parental relatedness, and coverage. | Banuelos M et al. | β | 2016 | β |
| Copy number variation analysis of the 17q21.31 region and its role in neurodegenerative diseases. | Cervera-Carles L et al. | β | 2016 | β |
| Cytogenomic Aberrations in Congenital Cardiovascular Malformations. | Azamian M et al. | β | 2016 | β |
| Fitness consequences of polymorphic inversions in the zebra finch genome. | Knief U et al. | β | 2016 | β |
| Genetics of Parkinson's disease. | Lill CM | β | 2016 | β |
| Genomic Evidence for Adaptive Inversion Clines in Drosophila melanogaster. | Kapun M et al. | β | 2016 | β |
| Genomics of Natural Populations: How Differentially Expressed Genes Shape the Evolution of Chromosomal Inversions in Drosophila pseudoobscura. | Fuller ZL et al. | β | 2016 | β |
| Going global by adapting local: A review of recent human adaptation. | Fan S et al. | β | 2016 | β |
| Hunting the genes in male-pattern alopecia: how important are they, how close are we and what will they tell us? | Heilmann-Heimbach S et al. | β | 2016 | β |
| MAPT haplotype H1G is associated with increased risk of dementia with Lewy bodies. | LabbΓ© C et al. | β | 2016 | β |
| Molecular, genetic and evolutionary analysis of a paracentric inversion in Arabidopsis thaliana. | Fransz P et al. | β | 2016 | β |
| New insights into the generation and role of de novo mutations in health and disease. | Acuna-Hidalgo R et al. | β | 2016 | β |
| Novel features of 3q29 deletion syndrome: Results from the 3q29 registry. | Glassford MR et al. | β | 2016 | β |
| Novel genetic loci underlying human intracranial volume identified through genome-wide association. | Adams HH et al. | β | 2016 | β |
| Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures. | Styrkarsdottir U et al. | β | 2016 | β |
| SRinversion: a tool for detecting short inversions by splitting and re-aligning poorly mapped and unmapped sequencing reads. | Chen R et al. | β | 2016 | β |
| Tau and tauopathies. | Arendt T et al. | β | 2016 | β |
| Tau: From research to clinical development. | Holtzman DM et al. | β | 2016 | β |
| Tau physiology and pathomechanisms in frontotemporal lobar degeneration. | Bodea LG et al. | β | 2016 | β |
| The Genetic Architecture of Natural Variation in Recombination Rate in Drosophila melanogaster. | Hunter CM et al. | β | 2016 | β |
| The Genetic Basis of Cognitive Impairment and Dementia in Parkinson's Disease. | Collins LM et al. | β | 2016 | β |
| The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. | Koolen DA et al. | β | 2016 | β |
| The ordered assembly of tau is the gain-of-toxic function that causes human tauopathies. | Goedert M | β | 2016 | β |
| Tracking changes in chromosomal arrangements and their genetic content during adaptation. | Santos J et al. | β | 2016 | β |
| Widespread Impact of Chromosomal Inversions on Gene Expression Uncovers Robustness via Phenotypic Buffering. | Naseeb S et al. | β | 2016 | β |
| Adaptive potential of genomic structural variation in human and mammalian evolution. | Radke DW et al. | β | 2015 | β |
| An integrated map of structural variation in 2,504 human genomes. | Sudmant PH et al. | β | 2015 | β |
| Common genetic variants influence human subcortical brain structures. | Hibar DP et al. | β | 2015 | β |
| Complex and multi-allelic copy number variation in human disease. | Usher CL et al. | β | 2015 | β |
| Extended fertility and longevity: the genetic and epigenetic link. | Wainer-Katsir K et al. | β | 2015 | β |
| Following the footprints of polymorphic inversions on SNP data: from detection to association tests. | CΓ‘ceres A et al. | β | 2015 | β |
| Frontotemporal lobar degeneration: old knowledge and new insight into the pathogenetic mechanisms of tau mutations. | Rossi G et al. | β | 2015 | β |
| Functional Impact and Evolution of a Novel Human Polymorphic Inversion That Disrupts a Gene and Creates a Fusion Transcript. | Puig M et al. | β | 2015 | β |
| Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders. | Iyer J et al. | β | 2015 | β |
| Genetic variation and the de novo assembly of human genomes. | Chaisson MJ et al. | β | 2015 | β |
| Human inversions and their functional consequences. | Puig M et al. | β | 2015 | β |
| Impaired intracellular trafficking defines early Parkinson's disease. | Hunn BH et al. | β | 2015 | β |
| Improved genome inference in the MHC using a population reference graph. | Dilthey A et al. | β | 2015 | β |
| Meiotic Recombination: The Essence of Heredity. | Hunter N | β | 2015 | β |
| Mendelian genes for Parkinson's disease contribute to the sporadic forms of the disease. | Spataro N et al. | β | 2015 | β |
| NEURODEGENERATION. Alzheimer's and Parkinson's diseases: The prion concept in relation to assembled AΞ², tau, and Ξ±-synuclein. | Goedert M | β | 2015 | β |
| No Evidence that Infection Alters Global Recombination Rate in House Mice. | Dumont BL et al. | β | 2015 | β |
| PAV markers in Sorghum bicolour: genome pattern, affected genes and pathways, and genetic linkage map construction. | Shen X et al. | β | 2015 | β |
| Perspectives on stress resilience and adolescent neurobehavioral function. | Romeo RD | β | 2015 | β |
| Post-traumatic neurodegeneration and chronic traumatic encephalopathy. | Daneshvar DH et al. | β | 2015 | β |
| Reassessing the Evolutionary History of the 17q21 Inversion Polymorphism. | Alves JM et al. | β | 2015 | β |
| Recent genomic heritage in Scotland. | Amador C et al. | β | 2015 | β |
| Regulation of human MAPT gene expression. | Caillet-Boudin ML et al. | β | 2015 | β |
| Role of copper and the copper-related protein CUTA in mediating APP processing and AΞ² generation. | Hou P et al. | β | 2015 | β |
| Selection on meiosis genes in diploid and tetraploid Arabidopsis arenosa. | Wright KM et al. | β | 2015 | β |
| The neuropathology of traumatic brain injury. | Mckee AC et al. | β | 2015 | β |
| The role of tau in the pathological process and clinical expression of Huntington's disease. | Vuono R et al. | β | 2015 | β |
| A case of 17q21.31 microduplication and 7q31.33 microdeletion, associated with developmental delay, microcephaly, and mild dysmorphic features. | Mc Cormack A et al. | β | 2014 | β |
| A common 16p11.2 inversion underlies the joint susceptibility to asthma and obesity. | GonzΓ‘lez JR et al. | β | 2014 | β |
| An epigenetic signature in peripheral blood associated with the haplotype on 17q21.31, a risk factor for neurodegenerative tauopathy. | Li Y et al. | β | 2014 | β |
| Common and low-frequency variants associated with genome-wide recombination rate. | Kong A et al. | β | 2014 | β |
| Copy number variations and human genetic disease. | Mikhail FM | β | 2014 | β |
| Description of Karyotype of Kerodon acrobata, an endemic rodent in Brazilian Cerrado. | Zappes IA et al. | β | 2014 | β |
| Effects of GWAS-associated genetic variants on lncRNAs within IBD and T1D candidate loci. | Mirza AH et al. | β | 2014 | β |
| Evidence for dysregulation of genome-wide recombination in oocytes with nondisjoined chromosomes 21. | Middlebrooks CD et al. | β | 2014 | β |
| Genetic distance as an alternative to physical distance for definition of gene units in association studies. | Rodriguez-Fontenla C et al. | β | 2014 | β |
| Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes. | Vacic V et al. | β | 2014 | β |
| Identifying the genes underlying quantitative traits: a rationale for the QTN programme. | Lee YW et al. | β | 2014 | β |
| InvFEST, a database integrating information of polymorphic inversions in the human genome. | MartΓnez-Fundichely A et al. | β | 2014 | β |
| Monozygotic twins with 17q21.31 microdeletion syndrome. | Vlckova M et al. | β | 2014 | β |
| Reconstructing complex regions of genomes using long-read sequencing technology. | Huddleston J et al. | β | 2014 | β |
| Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31. | Styrkarsdottir U et al. | β | 2014 | β |
| Supergenes and complex phenotypes. | Schwander T et al. | β | 2014 | β |
| The 8p23 inversion polymorphism determines local recombination heterogeneity across human populations. | Alves JM et al. | β | 2014 | β |
| The genetics of microdeletion and microduplication syndromes: an update. | Watson CT et al. | β | 2014 | β |
| The tau of PSP: a long road to treatment. | Golbe LI | β | 2014 | β |
| Validation and genotyping of multiple human polymorphic inversions mediated by inverted repeats reveals a high degree of recurrence. | Aguado C et al. | β | 2014 | β |
| Variation in genome-wide levels of meiotic recombination is established at the onset of prophase in mammalian males. | Baier B et al. | β | 2014 | β |
| Whole genome sequencing of Turkish genomes reveals functional private alleles and impact of genetic interactions with Europe, Asia and Africa. | Alkan C et al. | β | 2014 | β |
| Cytological studies of human meiosis: sex-specific differences in recombination originate at, or prior to, establishment of double-strand breaks. | Gruhn JR et al. | β | 2013 | β |
| Detecting natural selection in genomic data. | Vitti JJ et al. | β | 2013 | β |
| Disease consequences of human adaptation. | Fay JC | β | 2013 | β |
| Evolutionary dynamism of the primate LRRC37 gene family. | Giannuzzi G et al. | β | 2013 | β |
| Genome architecture is a selectable trait that can be maintained by antagonistic pleiotropy. | Avelar AT et al. | β | 2013 | β |
| Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. | Couch FJ et al. | β | 2013 | β |
| Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31. | Permuth-Wey J et al. | β | 2013 | β |
| Interactive effects of corticotropin-releasing hormone receptor 1 gene and childhood adversity on depressive symptoms in young adults: findings from a longitudinal study. | Laucht M et al. | β | 2013 | β |
| Inverted low-copy repeats and genome instability--a genome-wide analysis. | Dittwald P et al. | β | 2013 | β |
| Investigation of six novel susceptibility loci for male androgenetic alopecia in women with female pattern hair loss. | Redler S et al. | β | 2013 | β |
| Mechanisms of formation of structural variation in a fully sequenced human genome. | Pang AW et al. | β | 2013 | β |
| Meiotic recombination in mammals: localization and regulation. | Baudat F et al. | β | 2013 | β |
| On the power and the systematic biases of the detection of chromosomal inversions by paired-end genome sequencing. | Lucas LledΓ³ JI et al. | β | 2013 | β |
| Patterns of genetic variation across inversions: geographic variation in the In(2L)t inversion in populations of Drosophila melanogaster from eastern Australia. | Kennington WJ et al. | β | 2013 | β |
| Predicting inhaled corticosteroid response in asthma with two associated SNPs. | McGeachie MJ et al. | β | 2013 | β |
| Reproductive isolation and local adaptation quantified for a chromosome inversion in a malaria mosquito. | Ayala D et al. | β | 2013 | β |
| RNF212 is a dosage-sensitive regulator of crossing-over during mammalian meiosis. | Reynolds A et al. | β | 2013 | β |
| Structure and population genetics of the breakpoints of a polymorphic inversion in Drosophila subobscura. | Papaceit M et al. | β | 2013 | β |
| Tau pathology and neurodegeneration. | Spillantini MG et al. | β | 2013 | β |
| The effect of genomic inversions on estimation of population genetic parameters from SNP data. | Seich Al Basatena NK et al. | β | 2013 | β |
| YY1 binds to Ξ±-synuclein 3'-flanking region SNP and stimulates antisense noncoding RNA expression. | Mizuta I et al. | β | 2013 | β |
| A further contribution to the delineation of the 17q21.31 microdeletion syndrome: central nervous involvement in two Italian patients. | Terrone G et al. | β | 2012 | β |
| A role of genomic copy number variation in the complex behavioral phenotype of alcohol dependence: a commentary. | Urban AE | β | 2012 | β |
| Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions. | Zickler AM et al. | β | 2012 | β |
| Common inversion polymorphism at 17q21.31 affects expression of multiple genes in tissue-specific manner. | de Jong S et al. | β | 2012 | β |
| Common variants at 6q22 and 17q21 are associated with intracranial volume. | Ikram MA et al. | β | 2012 | β |
| Copy number variations involving the microtubule-associated protein tau in human diseases. | Rovelet-Lecrux A et al. | β | 2012 | β |
| CSF biomarking for diagnosis and treatment assessment in neurodegeneration. | Hardy J | β | 2012 | β |
| De novo mutations in human genetic disease. | Veltman JA et al. | β | 2012 | β |
| De novo triplication of the MAPT gene from the recurrent 17q21.31 microdeletion region in a patient with moderate intellectual disability and various minor anomalies. | Gregor A et al. | β | 2012 | β |
| Evaluation of Parkinson disease risk variants as expression-QTLs. | Latourelle JC et al. | β | 2012 | β |
| Evolution of neurodegeneration. | Cookson MR | β | 2012 | β |
| Exploring genomic structure differences and similarities between the Greek and European HapMap populations: implications for association studies. | Stathias V et al. | β | 2012 | β |
| Exploring the role of copy number variants in human adaptation. | Iskow RC et al. | β | 2012 | β |
| Five years of GWAS discovery. | Visscher PM et al. | β | 2012 | β |
| Frontotemporal dementia: implications for understanding Alzheimer disease. | Goedert M et al. | β | 2012 | β |
| Genetics: The MAPT locus-a genetic paradigm in disease susceptibility. | Wade-Martins R | β | 2012 | β |
| Genetic variants in REC8, RNF212, and PRDM9 influence male recombination in cattle. | Sandor C et al. | β | 2012 | β |
| Human genome sequencing in health and disease. | Gonzaga-Jauregui C et al. | β | 2012 | β |
| Identification of polymorphic inversions from genotypes. | CΓ‘ceres A et al. | β | 2012 | β |
| Impact of chromosomal inversions on the yeast DAL cluster. | Naseeb S et al. | β | 2012 | β |
| Independent replication of an association of CNVR7113.6 with Crohn's disease in Caucasians. | Roberts RL et al. | β | 2012 | β |
| Investigation of inversion polymorphisms in the human genome using principal components analysis. | Ma J et al. | β | 2012 | β |
| Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. | Morris AP et al. | β | 2012 | β |
| Lessons from genome-wide association studies findings in Alzheimer's disease. | Moraes CF et al. | β | 2012 | β |
| Long span DNA paired-end-tag (DNA-PET) sequencing strategy for the interrogation of genomic structural mutations and fusion-point-guided reconstruction of amplicons. | Yao F et al. | β | 2012 | β |
| MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies. | Trabzuni D et al. | β | 2012 | β |
| Meiotic recombinations within major histocompatibility complex of human embryos. | Taylan F et al. | β | 2012 | β |
| Microdeletion and microduplication 17q21.31 plus an additional CNV, in patients with intellectual disability, identified by array-CGH. | Kitsiou-Tzeli S et al. | β | 2012 | β |
| Microdeletion and microduplication syndromes. | Vissers LE et al. | β | 2012 | β |
| No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity. | Izzi B et al. | β | 2012 | β |
| On the structural plasticity of the human genome: chromosomal inversions revisited. | Alves JM et al. | β | 2012 | β |
| Primate segmental duplication creates novel promoters for the LRRC37 gene family within the 17q21.31 inversion polymorphism region. | Bekpen C et al. | β | 2012 | β |
| Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing. | Itsara A et al. | β | 2012 | β |
| Role of tau kinases (CDK5R1 and GSK3B) in Parkinson's disease: a study from India. | Das G et al. | β | 2012 | β |
| Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases. | Li R et al. | β | 2012 | β |
| Structural and functional characterization of H2 haplotype MAPT promoter: unique neurospecific domains and a hypoxia-inducible element would enhance rationally targeted tauopathy research for Alzheimer's disease. | Maloney B et al. | β | 2012 | β |
| Structural diversity and African origin of the 17q21.31 inversion polymorphism. | Steinberg KM et al. | β | 2012 | β |
| Structural haplotypes and recent evolution of the human 17q21.31 region. | Boettger LM et al. | β | 2012 | β |
| Tau alternative splicing in familial and sporadic tauopathies. | Niblock M et al. | β | 2012 | β |
| The challenges of studying complex and dynamic regions of the human genome. | Hollox EJ | β | 2012 | β |
| The MAPT H1 haplotype is associated with tangle-predominant dementia. | Santa-Maria I et al. | β | 2012 | β |
| The role of MAPT sequence variation in mechanisms of disease susceptibility. | Caffrey TM et al. | β | 2012 | β |
| The unique karyotype of Henochilus wheatlandii, a critically endangered fish living in a fast-developing region in Minas Gerais State, Brazil. | Silva PC et al. | β | 2012 | β |
| Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism. | Koolen DA et al. | β | 2012 | β |
| Using the neanderthal and denisova genetic data to understand the common MAPT 17q21 inversion in modern humans. | SetΓ³-Salvia N et al. | β | 2012 | β |
| A CRHR1 haplotype moderates the effect of adverse childhood experiences on lifetime risk of major depressive episode in African-American women. | Kranzler HR et al. | β | 2011 | β |
| Age-dependent recombination rates in human pedigrees. | Hussin J et al. | β | 2011 | β |
| Association between ORMDL3, IL1RL1 and a deletion on chromosome 17q21 with asthma risk in Australia. | Ferreira MA et al. | β | 2011 | β |
| Chromosomal evolution in Rattini (Muridae, Rodentia). | Badenhorst D et al. | β | 2011 | β |
| Chromosome-wide linkage disequilibrium caused by an inversion polymorphism in the white-throated sparrow (Zonotrichia albicollis). | Huynh LY et al. | β | 2011 | β |
| Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation. | Dubourg C et al. | β | 2011 | β |
| Contrasting signals of positive selection in genes involved in human skin-color variation from tests based on SNP scans and resequencing. | de Gruijter JM et al. | β | 2011 | β |
| Corticobasal degeneration: a pathologically distinct 4R tauopathy. | Kouri N et al. | β | 2011 | β |
| Different MAPT haplotypes are associated with Parkinson's disease and progressive supranuclear palsy. | Ezquerra M et al. | β | 2011 | β |
| Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21. | UK Parkinson's Disease Consortium et al. | β | 2011 | β |
| Examination of hemiplasy, homoplasy and phylogenetic discordance in chromosomal evolution of the Bovidae. | Robinson TJ et al. | β | 2011 | β |
| Genetic analysis of genome-scale recombination rate evolution in house mice. | Dumont BL et al. | β | 2011 | β |
| Genetic basis of Parkinson's disease: inheritance, penetrance, and expression. | Schulte C et al. | β | 2011 | β |
| Genetic flux between h1 and h2 haplotypes of the 17q21.31 inversion in European population. | Deng L et al. | β | 2011 | β |
| Genetic variation and its role in malignancy. | Talseth-Palmer BA et al. | β | 2011 | β |
| Genome-wide array-based copy number profiling in human placentas from unexplained stillbirths. | Harris RA et al. | β | 2011 | β |
| Genome-wide association study confirms extant PD risk loci among the Dutch. | SimΓ³n-SΓ‘nchez J et al. | β | 2011 | β |
| Genome-wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population. | Liu X et al. | β | 2011 | β |
| Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. | HΓΆglinger GU et al. | β | 2011 | β |
| Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes. | Ou Z et al. | β | 2011 | β |
| Pathogenesis of the tauopathies. | Goedert M et al. | β | 2011 | β |
| Pico-inplace-inversions between human and chimpanzee. | Hou M et al. | β | 2011 | β |
| Recombination rates in admixed individuals identified by ancestry-based inference. | Wegmann D et al. | β | 2011 | β |
| Sex-specific role for adenylyl cyclase type 7 in alcohol dependence. | DesriviΓ¨res S et al. | β | 2011 | β |
| Structural variation in two human genomes mapped at single-nucleotide resolution by whole genome de novo assembly. | Li Y et al. | β | 2011 | β |
| Synaptic changes in frontotemporal lobar degeneration: correlation with MAPT haplotype and APOE genotype. | Connelly SJ et al. | β | 2011 | β |
| Tau haplotypes and ApoE4 do not act in synergy on Alzheimer's disease. | Almos PZ et al. | β | 2011 | β |
| Variation in human recombination rates and its genetic determinants. | Fledel-Alon A et al. | β | 2011 | β |
| A draft sequence of the Neandertal genome. | Green RE et al. | β | 2010 | β |
| A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk. | Antonacci F et al. | β | 2010 | β |
| A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2. | Bengesser K et al. | β | 2010 | β |
| A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer. | Kiemeney LA et al. | β | 2010 | β |
| Association of the MAPT locus with Parkinson's disease. | Wider C et al. | β | 2010 | β |
| A tangled web - tau and sporadic Parkinson's disease. | Wray S et al. | β | 2010 | β |
| Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. | Thorleifsson G et al. | β | 2010 | β |
| Complete Khoisan and Bantu genomes from southern Africa. | Schuster SC et al. | β | 2010 | β |
| Contrasting methods of quantifying fine structure of human recombination. | Clark AG et al. | β | 2010 | β |
| Copy number variation in chemokine superfamily: the complex scene of CCL3L-CCL4L genes in health and disease. | Colobran R et al. | β | 2010 | β |
| Diversity of human copy number variation and multicopy genes. | Sudmant PH et al. | β | 2010 | β |
| Evidence for CRHR1 in multiple sclerosis using supervised machine learning and meta-analysis in 12,566 individuals. | Briggs FB et al. | β | 2010 | β |
| Fine-scale recombination rate differences between sexes, populations and individuals. | Kong A et al. | β | 2010 | β |
| Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease. | Edwards TL et al. | β | 2010 | β |
| Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. | Wellcome Trust Case Control Consortium et al. | β | 2010 | β |
| Genomic and clinical characteristics of microduplications in chromosome 17. | Shchelochkov OA et al. | β | 2010 | β |
| Geographic patterns of inversion polymorphisms in a wild African rodent, Mastomys erythroleucus. | Dobigny G et al. | β | 2010 | β |
| H2 haplotype at chromosome 17q21.31 protects against childhood sexual abuse-associated risk for alcohol consumption and dependence. | Nelson EC et al. | β | 2010 | β |
| How culture shaped the human genome: bringing genetics and the human sciences together. | Laland KN et al. | β | 2010 | β |
| Identification and frequency estimation of inversion polymorphisms from haplotype data. | Sindi SS et al. | β | 2010 | β |
| Inversion variants in the human genome: role in disease and genome architecture. | Feuk L | β | 2010 | β |
| invertFREGENE: software for simulating inversions in population genetic data. | O'Reilly PF et al. | β | 2010 | β |
| Mammalian recombination hot spots: properties, control and evolution. | Paigen K et al. | β | 2010 | β |
| Phenotypic variability and genetic susceptibility to genomic disorders. | Girirajan S et al. | β | 2010 | β |
| Quantification of population structure using correlated SNPs by shrinkage principal components. | Zou F et al. | β | 2010 | β |
| Rational therapeutic approaches to progressive supranuclear palsy. | Stamelou M et al. | β | 2010 | β |
| Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotype. | Rao PN et al. | β | 2010 | β |
| Several common variants modulate heart rate, PR interval and QRS duration. | Holm H et al. | β | 2010 | β |
| Synapsis and recombination in inversion heterozygotes. | Torgasheva AA et al. | β | 2010 | β |
| Tau levels do not influence human ALS or motor neuron degeneration in the SOD1G93A mouse. | Taes I et al. | β | 2010 | β |
| The clinical context of copy number variation in the human genome. | Lee C et al. | β | 2010 | β |
| The CRF system, stress, depression and anxiety-insights from human genetic studies. | Binder EB et al. | β | 2010 | β |
| The distribution and most recent common ancestor of the 17q21 inversion in humans. | Donnelly MP et al. | β | 2010 | β |
| The genetics of Parkinson disease. | Bekris LM et al. | β | 2010 | β |
| The microcephalin ancestral allele in a Neanderthal individual. | Lari M et al. | β | 2010 | β |
| The propagation of prion-like protein inclusions in neurodegenerative diseases. | Goedert M et al. | β | 2010 | β |
| Unravelling the role of defective genes. | Cookson MR | β | 2010 | β |
| 17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction. | Grisart B et al. | β | 2009 | β |
| 5'-Upstream variants of CRHR1 and MAPT genes associated with age at onset in progressive supranuclear palsy and cortical basal degeneration. | Cruchaga C et al. | β | 2009 | β |
| A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent and frequent in the Swedish population. | Entesarian M et al. | β | 2009 | β |
| A high-density SNP-based linkage map of the chicken genome reveals sequence features correlated with recombination rate. | Groenen MA et al. | β | 2009 | β |
| An association study of common variation at the MAPT locus with late-onset Alzheimer's disease. | Abraham R et al. | β | 2009 | β |
| Association of MAPT haplotype-tagging SNPs with sporadic Parkinson's disease. | Vandrovcova J et al. | β | 2009 | β |
| Characterization of six human disease-associated inversion polymorphisms. | Antonacci F et al. | β | 2009 | β |
| Copy number variation of CCL3-like genes affects rate of progression to simian-AIDS in Rhesus Macaques (Macaca mulatta). | Degenhardt JD et al. | β | 2009 | β |
| Duplication hotspots, rare genomic disorders, and common disease. | Mefford HC et al. | β | 2009 | β |
| Evaluation of haplotype inference using definitive haplotype data obtained from complete hydatidiform moles, and its significance for the analyses of positively selected regions. | Higasa K et al. | β | 2009 | β |
| From 1997 to 2007: a decade journey through the H1 haplotype on 17q21 chromosome. | Kalinderi K et al. | β | 2009 | β |
| Genetic analysis of variation in human meiotic recombination. | Chowdhury R et al. | β | 2009 | β |
| Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis. | Ionita-Laza I et al. | β | 2009 | β |
| Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility. | Gudmundsson J et al. | β | 2009 | β |
| Genomewide association study for susceptibility genes contributing to familial Parkinson disease. | Pankratz N et al. | β | 2009 | β |
| How Neandertals inform human variation. | Wolpoff MH | β | 2009 | β |
| Human genetic variation and its contribution to complex traits. | Frazer KA et al. | β | 2009 | β |
| Human genomics: The genome finishers. | Dolgin E | β | 2009 | β |
| Large allele frequency differences between human continental groups are more likely to have occurred by drift during range expansions than by selection. | Hofer T et al. | β | 2009 | β |
| Microtubule-associated protein tau (MAPT) influences the risk of Parkinson's disease among Indians. | Das G et al. | β | 2009 | β |
| Mouse models of genomic syndromes as tools for understanding the basis of complex traits: an example with the smith-magenis and the potocki-lupski syndromes. | Carmona-Mora P et al. | β | 2009 | β |
| No evidence of PGRN or MAPT gene dosage alterations in a collection of patients with frontotemporal lobar degeneration. | Skoglund L et al. | β | 2009 | β |
| Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism. | Bosch N et al. | β | 2009 | β |
| Overexpression of wild-type murine tau results in progressive tauopathy and neurodegeneration. | Adams SJ et al. | β | 2009 | β |
| Physiological transgene regulation and functional complementation of a neurological disease gene deficiency in neurons. | Peruzzi PP et al. | β | 2009 | β |
| Role of the H1 haplotype of microtubule-associated protein tau (MAPT) gene in Greek patients with Parkinson's disease. | Refenes N et al. | β | 2009 | β |
| Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density. | Thorleifsson G et al. | β | 2009 | β |
| The effect of age and the H1c MAPT haplotype on MAPT expression in human brain. | Hayesmoore JB et al. | β | 2009 | β |
| The evolution of human segmental duplications and the core duplicon hypothesis. | Marques-Bonet T et al. | β | 2009 | β |
| The genome-centric concept: resynthesis of evolutionary theory. | Heng HH | β | 2009 | β |
| The molecular basis of frontotemporal dementia. | Neumann M et al. | β | 2009 | β |
| The population genomics of trans-specific inversion polymorphisms in Anopheles gambiae. | White BJ et al. | β | 2009 | β |
| To what extent did Neanderthals and modern humans interact? | Herrera KJ et al. | β | 2009 | β |
| African genetic diversity: implications for human demographic history, modern human origins, and complex disease mapping. | Campbell MC et al. | β | 2008 | β |
| A genetic legacy from archaic Homo. | Hawks J et al. | β | 2008 | β |
| Analysis and application of European genetic substructure using 300 K SNP information. | Tian C et al. | β | 2008 | β |
| An unusual haplotype structure on human chromosome 8p23 derived from the inversion polymorphism. | Deng L et al. | β | 2008 | β |
| Chromosomal plasticity and evolutionary potential in the malaria vector Anopheles gambiae sensu stricto: insights from three decades of rare paracentric inversions. | Pombi M et al. | β | 2008 | β |
| Chromosome 17: association of a large inversion polymorphism with corticosteroid response in asthma. | Tantisira KG et al. | β | 2008 | β |
| Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. | Koolen DA et al. | β | 2008 | β |
| Closing gaps in the human genome with fosmid resources generated from multiple individuals. | Bovee D et al. | β | 2008 | β |
| CNV and nervous system diseases--what's new? | Gu W et al. | β | 2008 | β |
| Defensins and the dynamic genome: what we can learn from structural variation at human chromosome band 8p23.1. | Hollox EJ et al. | β | 2008 | β |
| Detecting the Genetic Signature of Natural Selection in Human Populations: Models, Methods, and Data. | Hancock AM et al. | β | 2008 | β |
| Empirical significance values for linkage analysis: trait simulation using posterior model distributions from MCMC oligogenic segregation analysis. | Igo RP et al. | β | 2008 | β |
| Evolutionary toggling of the MAPT 17q21.31 inversion region. | Zody MC et al. | β | 2008 | β |
| Evolution of man in the light of molecular genetics: a review. Part II. Regulation of gene function, evolution of speech and of brains. | Portin P | β | 2008 | β |
| H1 tau haplotype-related genomic variation at 17q21.3 as an Asian heritage of the European Gypsy population. | Almos PZ et al. | β | 2008 | β |
| Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study. | Tobin JE et al. | β | 2008 | β |
| Latent effects of prenatal malnutrition on adult health: the example of schizophrenia. | Susser E et al. | β | 2008 | β |
| Long-range, high-throughput haplotype determination via haplotype-fusion PCR and ligation haplotyping. | Turner DJ et al. | β | 2008 | β |
| Mapping and sequencing of structural variation from eight human genomes. | Kidd JM et al. | β | 2008 | β |
| [New chromosomal syndromes]. | Schluth-Bolard C et al. | β | 2008 | β |
| Novel microdeletion syndromes detected by chromosome microarrays. | Slavotinek AM | β | 2008 | β |
| On the replication of genetic associations: timing can be everything! | Lasky-Su J et al. | β | 2008 | β |
| Population genetic analysis of the N-acylsphingosine amidohydrolase gene associated with mental activity in humans. | Kim HL et al. | β | 2008 | β |
| Revisiting the Impact of Inversions in Evolution: From Population Genetic Markers to Drivers of Adaptive Shifts and Speciation? | Hoffmann AA et al. | β | 2008 | β |
| Role of the tau gene region chromosome inversion in progressive supranuclear palsy, corticobasal degeneration, and related disorders. | Webb A et al. | β | 2008 | β |
| Senile systemic amyloidosis affects 25% of the very aged and associates with genetic variation in alpha2-macroglobulin and tau: a population-based autopsy study. | Tanskanen M et al. | β | 2008 | β |
| Sequence variant on 8q24 confers susceptibility to urinary bladder cancer. | Kiemeney LA et al. | β | 2008 | β |
| Sequence variants in the RNF212 gene associate with genome-wide recombination rate. | Kong A et al. | β | 2008 | β |
| Tau as a biomarker of neurodegenerative diseases. | Schraen-Maschke S et al. | β | 2008 | β |
| Testing for archaic hominin admixture on the X chromosome: model likelihoods for the modern human RRM2P4 region from summaries of genealogical topology under the structured coalescent. | Cox MP et al. | β | 2008 | β |
| The copy number variant involving part of the alpha7 nicotinic receptor gene contains a polymorphic inversion. | Flomen RH et al. | β | 2008 | β |
| The functional impact of structural variation in humans. | Hurles ME et al. | β | 2008 | β |
| The role of rare structural variants in the genetics of autism spectrum disorders. | Kusenda M et al. | β | 2008 | β |
| The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm. | Helgadottir A et al. | β | 2008 | β |
| Thirty years of Alzheimer's disease genetics: the implications of systematic meta-analyses. | Bertram L et al. | β | 2008 | β |
| A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features. | Kirchhoff M et al. | β | 2007 | β |
| A chromosome inversion near the KIT gene and the Tobiano spotting pattern in horses. | Brooks SA et al. | β | 2007 | β |
| Analysis of segmental duplications reveals a distinct pattern of continuation-of-synteny between human and mouse genomes. | Mehan MR et al. | β | 2007 | β |
| An evolutionary view of human recombination. | Coop G et al. | β | 2007 | β |
| A new approach for using genome scans to detect recent positive selection in the human genome. | Tang K et al. | β | 2007 | β |
| Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases. | de Smith AJ et al. | β | 2007 | β |
| Ascertainment bias and the pattern of nucleotide diversity at the human ALDH2 locus in a Japanese population. | Brown BT et al. | β | 2007 | β |
| Association analysis of MAPT H1 haplotype and subhaplotypes in Parkinson's disease. | Zabetian CP et al. | β | 2007 | β |
| A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. | Steinthorsdottir V et al. | β | 2007 | β |
| Characterization and evolution of the novel gene family FAM90A in primates originated by multiple duplication and rearrangement events. | Bosch N et al. | β | 2007 | β |
| Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation. | Wagenstaller J et al. | β | 2007 | β |
| Definition of the zebrafish genome using flow cytometry and cytogenetic mapping. | Freeman JL et al. | β | 2007 | β |
| Evidence for large inversion polymorphisms in the human genome from HapMap data. | Bansal V et al. | β | 2007 | β |
| Evolution of man in the light of molecular genetics: a review. Part I. Our evolutionary history and genomics. | Portin P | β | 2007 | β |
| Frontotemporal dementia with tau pathology. | Gasparini L et al. | β | 2007 | β |
| Frontotemporal lobar degeneration with ubiquitin-positive inclusions: a molecular genetic update. | van der Zee J et al. | β | 2007 | β |
| Functional MAPT haplotypes: bridging the gap between genotype and neuropathology. | Caffrey TM et al. | β | 2007 | β |
| Genetic variation in human disease and a new role for copy number variants. | Shelling AN et al. | β | 2007 | β |
| Haplotype-based association analysis of the MAPT locus in late onset Alzheimer's disease. | Mukherjee O et al. | β | 2007 | β |
| Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation. | Bruni AC et al. | β | 2007 | β |
| Human genetic diversity and the epidemiology of parasitic and other transmissible diseases. | Tibayrenc M | β | 2007 | β |
| Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms. | Melquist S et al. | β | 2007 | β |
| Identification of the genetic basis for complex disorders by use of pooling-based genomewide single-nucleotide-polymorphism association studies. | Pearson JV et al. | β | 2007 | β |
| Linkage disequilibrium as a tool for detecting signatures of natural selection. | Ennis S | β | 2007 | β |
| Localization of candidate regions maintaining a common polymorphic inversion (2La) in Anopheles gambiae. | White BJ et al. | β | 2007 | β |
| MAPT gene duplications are not a cause of frontotemporal lobar degeneration. | LladΓ³ A et al. | β | 2007 | β |
| Modern human origins in Australasia: testing the predictions of competing models. | Curnoe D | β | 2007 | β |
| Mutational and selective effects on copy-number variants in the human genome. | Cooper GM et al. | β | 2007 | β |
| Paired-end mapping reveals extensive structural variation in the human genome. | Korbel JO et al. | β | 2007 | β |
| Progressive supranuclear palsy: pathology and genetics. | Dickson DW et al. | β | 2007 | β |
| Recent and ongoing selection in the human genome. | Nielsen R et al. | β | 2007 | β |
| Recurrent DNA inversion rearrangements in the human genome. | Flores M et al. | β | 2007 | β |
| Side effects of genome structural changes. | Reymond A et al. | β | 2007 | β |
| Tau and alpha-synuclein in susceptibility to, and dementia in, Parkinson's disease. | Goris A et al. | β | 2007 | β |
| The association of a SNP upstream of INSIG2 with body mass index is reproduced in several but not all cohorts. | Lyon HN et al. | β | 2007 | β |
| The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts. | Myers AJ et al. | β | 2007 | β |
| The population genetics of structural variation. | Conrad DF et al. | β | 2007 | β |
| Two sites in the MAPT region confer genetic risk for Guam ALS/PDC and dementia. | Sundar PD et al. | β | 2007 | β |
| Understanding the recent evolution of the human genome: insights from human-chimpanzee genome comparisons. | Kehrer-Sawatzki H et al. | β | 2007 | β |
| A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient. | Varela MC et al. | β | 2006 | β |
| A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD. | van der Zee J et al. | β | 2006 | β |
| Accommodating chromosome inversions in linkage analysis. | Chen GK et al. | β | 2006 | β |
| A century of Alzheimer's disease. | Goedert M et al. | β | 2006 | β |
| African human diversity, origins and migrations. | Reed FA et al. | β | 2006 | β |
| Allele frequency matching between SNPs reveals an excess of linkage disequilibrium in genic regions of the human genome. | Eberle MA et al. | β | 2006 | β |
| A map of recent positive selection in the human genome. | Voight BF et al. | β | 2006 | β |
| An algorithm for assembly of ordered restriction maps from single DNA molecules. | Valouev A et al. | β | 2006 | β |
| An ancient balanced polymorphism in a regulatory region of human major histocompatibility complex is retained in Chinese minorities but lost worldwide. | Liu X et al. | β | 2006 | β |
| A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. | Koolen DA et al. | β | 2006 | β |
| Assaying chromosomal inversions by single-molecule haplotyping. | Turner DJ et al. | β | 2006 | β |
| Being positive about selection. | MacCallum C et al. | β | 2006 | β |
| Bio-social determinants of fertility. | Kohler HP et al. | β | 2006 | β |
| Clinical applications of Genome Polymorphism Scans. | Weber JL | β | 2006 | β |
| Comment on "Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens" and "Microcephalin, a gene regulating brain size, continues to evolve adaptively in humans". | Currat M et al. | β | 2006 | β |
| Common deletions and SNPs are in linkage disequilibrium in the human genome. | Hinds DA et al. | β | 2006 | β |
| Copy number variation in the genome; the human DMD gene as an example. | White SJ et al. | β | 2006 | β |
| Decoding the fine-scale structure of a breast cancer genome and transcriptome. | Volik S et al. | β | 2006 | β |
| Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. | Sharp AJ et al. | β | 2006 | β |
| DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. | Zody MC et al. | β | 2006 | β |
| Evidence that the adaptive allele of the brain size gene microcephalin introgressed into Homo sapiens from an archaic Homo lineage. | Evans PD et al. | β | 2006 | β |
| Evolutionary movement of centromeres in horse, donkey, and zebra. | Carbone L et al. | β | 2006 | β |
| Frontotemporal dementia. | Roberson ED | β | 2006 | β |
| Genetic diversity and genetic burden in humans. | Harpending H et al. | β | 2006 | β |
| Genetic epidemiology of type 1 diabetes. | Paterson AD | β | 2006 | β |
| Genome structural variation and sporadic disease traits. | Lupski JR | β | 2006 | β |
| Genomewide linkage scan of 409 European-ancestry and African American families with schizophrenia: suggestive evidence of linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the combined sample. | Suarez BK et al. | β | 2006 | β |
| Global landscape of recent inferred Darwinian selection for Homo sapiens. | Wang ET et al. | β | 2006 | β |
| Global variation in copy number in the human genome. | Redon R et al. | β | 2006 | β |
| Haplotype-specific expression of exon 10 at the human MAPT locus. | Caffrey TM et al. | β | 2006 | β |
| High mutation rates have driven extensive structural polymorphism among human Y chromosomes. | Repping S et al. | β | 2006 | β |
| Hotspots for copy number variation in chimpanzees and humans. | Perry GH et al. | β | 2006 | β |
| Identifying the morphological signatures of hybridization in primate and human evolution. | Ackermann RR et al. | β | 2006 | β |
| Idiopathic learning disability and genome imbalance. | Knight SJ et al. | β | 2006 | β |
| Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture. | Ciccone R et al. | β | 2006 | β |
| Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. | Shaw-Smith C et al. | β | 2006 | β |
| Neanderthal DNA yields to genome foray. | Dalton R | β | 2006 | β |
| No evidence for association of a European-specific chromosome 17 inversion with multiple sclerosis. | Goris A et al. | β | 2006 | β |
| Nonsynonymous SNPs: validation characteristics, derived allele frequency patterns, and suggestive evidence for natural selection. | Fredman D et al. | β | 2006 | β |
| Polymorphic micro-inversions contribute to the genomic variability of humans and chimpanzees. | Szamalek JM et al. | β | 2006 | β |
| Primate segmental duplications: crucibles of evolution, diversity and disease. | Bailey JA et al. | β | 2006 | β |
| PRKCA and multiple sclerosis: association in two independent populations. | Saarela J et al. | β | 2006 | β |
| Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2). | Walz K et al. | β | 2006 | β |
| Reconstructing human origins in the genomic era. | Garrigan D et al. | β | 2006 | β |
| Scanning the human genome for signals of selection. | McVean G et al. | β | 2006 | β |
| Scan of human genome reveals no new Loci under ancient balancing selection. | Bubb KL et al. | β | 2006 | β |
| Structural variants deconstruct the genome. | β | β | 2006 | β |
| Structural variation in the human genome. | Feuk L et al. | β | 2006 | β |
| Structural variation of the human genome. | Sharp AJ et al. | β | 2006 | β |
| Tangle diseases and the tau haplotypes. | Hardy J et al. | β | 2006 | β |
| The genetics of neurodegenerative diseases. | Hardy J et al. | β | 2006 | β |
| The H2 MAPT haplotype is associated with familial frontotemporal dementia. | Ghidoni R et al. | β | 2006 | β |
| The neurobiology of multiple sclerosis: genes, inflammation, and neurodegeneration. | Hauser SL et al. | β | 2006 | β |
| Untangling the tau gene association with neurodegenerative disorders. | Pittman AM et al. | β | 2006 | β |
| Visualization of MAPT inversion on stretched chromosomes of tau-negative frontotemporal dementia patients. | Gijselinck I et al. | β | 2006 | β |
| A genome-wide comparison of recent chimpanzee and human segmental duplications. | Cheng Z et al. | β | 2005 | β |
| A haplotype map of the human genome. | International HapMap Consortium | β | 2005 | β |
| Chromosome evolution in eukaryotes: a multi-kingdom perspective. | Coghlan A et al. | β | 2005 | β |
| Deep haplotype divergence and long-range linkage disequilibrium at xp21.1 provide evidence that humans descend from a structured ancestral population. | Garrigan D et al. | β | 2005 | β |
| Direct duplication 12p11.21-p13.31 mediated by segmental duplications: a new recurrent rearrangement? | De Gregori M et al. | β | 2005 | β |
| Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies. | Feuk L et al. | β | 2005 | β |
| Ethnic differences in allele frequency of autoimmune-disease-associated SNPs. | Mori M et al. | β | 2005 | β |
| Evidence suggesting that Homo neanderthalensis contributed the H2 MAPT haplotype to Homo sapiens. | Hardy J et al. | β | 2005 | β |
| Evolutionary genetics: the human brain -- adaptation at many levels. | Oldham MC et al. | β | 2005 | β |
| Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23. | Antonell A et al. | β | 2005 | β |
| Fine-scale structural variation of the human genome. | Tuzun E et al. | β | 2005 | β |
| Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region. | Cruts M et al. | β | 2005 | β |
| Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. | Lupski JR et al. | β | 2005 | β |
| How homologous recombination generates a mutable genome. | Hurles M | β | 2005 | β |
| Human genome: patchwork people. | Check E | β | 2005 | β |
| Inversions with classical style and trendy lines. | Navarro A et al. | β | 2005 | β |
| Large genomic differences explain our little quirks. | Check E | β | 2005 | β |
| Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration. | Pittman AM et al. | β | 2005 | β |
| Microcephalin, a gene regulating brain size, continues to evolve adaptively in humans. | Evans PD et al. | β | 2005 | β |
| Multiple sclerosis genetics: leaving no stone unturned. | Oksenberg JR et al. | β | 2005 | β |
| Perspectives on human genetic variation from the HapMap Project. | McVean G et al. | β | 2005 | β |
| Positive selection of a pre-expansion CAG repeat of the human SCA2 gene. | Yu F et al. | β | 2005 | β |
| Progress in the genetics of progressive supranuclear palsy: tau gene and beyond. | Bonifati V | β | 2005 | β |
| Tau is central in the genetic Alzheimer-frontotemporal dementia spectrum. | Dermaut B et al. | β | 2005 | β |
| Tau kinases and Parkinson's disease: guilt by association? | Dickson DW et al. | β | 2005 | β |
| Vive la difference! | Lee C | β | 2005 | β |