Genetic analysis of variation in human meiotic recombination.

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet (2010) 3.64

PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans. Nat Genet (2010) 3.33

Genetics of mammalian meiosis: regulation, dynamics and impact on fertility. Nat Rev Genet (2010) 2.58

Mammalian recombination hot spots: properties, control and evolution. Nat Rev Genet (2010) 2.54

Differential relationship of DNA replication timing to different forms of human mutation and variation. Am J Hum Genet (2012) 2.33

Optimized flow cytometry isolation of murine spermatocytes. Cytometry A (2014) 2.14

Meiotic recombination in mammals: localization and regulation. Nat Rev Genet (2013) 2.00

Comprehensive literature review and statistical considerations for GWAS meta-analysis. Nucleic Acids Res (2012) 1.75

Genome-wide maps of recombination and chromosome segregation in human oocytes and embryos show selection for maternal recombination rates. Nat Genet (2015) 1.66

Structural haplotypes and recent evolution of the human 17q21.31 region. Nat Genet (2012) 1.41

Variation in human recombination rates and its genetic determinants. PLoS One (2011) 1.39

RNF212 is a dosage-sensitive regulator of crossing-over during mammalian meiosis. Nat Genet (2013) 1.38

Genetic variants in REC8, RNF212, and PRDM9 influence male recombination in cattle. PLoS Genet (2012) 1.16

Prdm9, a major determinant of meiotic recombination hotspots, is not functional in dogs and their wild relatives, wolves and coyotes. PLoS One (2011) 1.14

Genetic analysis of genome-scale recombination rate evolution in house mice. PLoS Genet (2011) 1.12

Flow cytometry purification of mouse meiotic cells. J Vis Exp (2011) 1.11

Extensive recombination rate variation in the house mouse species complex inferred from genetic linkage maps. Genome Res (2010) 1.09

Altered patterns of multiple recombinant events are associated with nondisjunction of chromosome 21. Hum Genet (2011) 0.99

PRDM9 marks the spot. Nat Genet (2010) 0.98

Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes. Am J Hum Genet (2013) 0.96

Age-dependent recombination rates in human pedigrees. PLoS Genet (2011) 0.95

Antagonistic roles of ubiquitin ligase HEI10 and SUMO ligase RNF212 regulate meiotic recombination. Nat Genet (2014) 0.95

Anatomy of mouse recombination hot spots. Nucleic Acids Res (2010) 0.93

Estrogenic exposure alters the spermatogonial stem cells in the developing testis, permanently reducing crossover levels in the adult. PLoS Genet (2015) 0.93

Detecting sequence polymorphisms associated with meiotic recombination hotspots in the human genome. Genome Biol (2010) 0.92

Cytological studies of human meiosis: sex-specific differences in recombination originate at, or prior to, establishment of double-strand breaks. PLoS One (2013) 0.92

Multiple loci contribute to genome-wide recombination levels in male mice. Mamm Genome (2010) 0.90

Functional consequences of 17q21.31/WNT3-WNT9B amplification in hPSCs with respect to neural differentiation. Cell Rep (2015) 0.89

Selection on meiosis genes in diploid and tetraploid Arabidopsis arenosa. Mol Biol Evol (2014) 0.87

The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild. BMC Genomics (2013) 0.87

Analysis of human meiotic recombination events with a parent-sibling tracing approach. BMC Genomics (2011) 0.86

Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering. Mol Genet Metab (2011) 0.86

An algorithm for determining the origin of trisomy and the positions of chiasmata from SNP genotype data. Chromosome Res (2011) 0.85

Meiotic recombination analyses of individual chromosomes in male domestic pigs (Sus scrofa domestica). PLoS One (2014) 0.84

Variation in genome-wide levels of meiotic recombination is established at the onset of prophase in mammalian males. PLoS Genet (2014) 0.84

Evidence for dysregulation of genome-wide recombination in oocytes with nondisjoined chromosomes 21. Hum Mol Genet (2013) 0.83

Oocyte development, meiosis and aneuploidy. Semin Cell Dev Biol (2015) 0.83

TEX11 is mutated in infertile men with azoospermia and regulates genome-wide recombination rates in mouse. EMBO Mol Med (2015) 0.82

On the structural plasticity of the human genome: chromosomal inversions revisited. Curr Genomics (2012) 0.82

An examination of the relationship between hotspots and recombination associated with chromosome 21 nondisjunction. PLoS One (2014) 0.81

The Genetic Architecture of Natural Variation in Recombination Rate in Drosophila melanogaster. PLoS Genet (2016) 0.81

Hybrid Sterility Locus on Chromosome X Controls Meiotic Recombination Rate in Mouse. PLoS Genet (2016) 0.81

Familial haplotyping and embryo analysis for Preimplantation genetic diagnosis (PGD) using DNA microarrays: a proof of principle study. J Assist Reprod Genet (2013) 0.81

Identification of Laying-Related SNP Markers in Geese Using RAD Sequencing. PLoS One (2015) 0.81

Meiotic recombinations within major histocompatibility complex of human embryos. Immunogenetics (2012) 0.80

Complex and multi-allelic copy number variation in human disease. Brief Funct Genomics (2015) 0.80

Recombination locations and rates in beef cattle assessed from parent-offspring pairs. Genet Sel Evol (2014) 0.79

Variation in crossover frequencies perturb crossover assurance without affecting meiotic chromosome segregation in Saccharomyces cerevisiae. Genetics (2014) 0.78

Crossover formation during rice meiosis relies on interaction of OsMSH4 and OsMSH5. Genetics (2014) 0.78

Variation and Evolution of the Meiotic Requirement for Crossing Over in Mammals. Genetics (2016) 0.78

KIAA1462, a coronary artery disease associated gene, is a candidate gene for late onset Alzheimer disease in APOE carriers. PLoS One (2013) 0.77

No Evidence that Infection Alters Global Recombination Rate in House Mice. PLoS One (2015) 0.77

Coding and noncoding variants in HFM1, MLH3, MSH4, MSH5, RNF212, and RNF212B affect recombination rate in cattle. Genome Res (2016) 0.77

The rate of nonallelic homologous recombination in males is highly variable, correlated between monozygotic twins and independent of age. PLoS Genet (2014) 0.76

An ENU-induced mutation in the mouse Rnf212 gene is associated with male meiotic failure and infertility. Reproduction (2014) 0.76

Genome-Wide Association Study of Meiotic Recombination Phenotypes. G3 (Bethesda) (2016) 0.75

X-Chromosome Control of Genome-Scale Recombination Rates in House Mice. Genetics (2017) 0.75

Meiotic prophase I defects in an oligospermic man with Wolf-Hirschhorn syndrome with ring chromosome 4. Mol Cytogenet (2014) 0.75

Multispecies Purification of Testicular Germ Cells. Biol Reprod (2016) 0.75

Genetic Effect of Chemotherapy Exposure in Children of Testicular Cancer Survivors. Clin Cancer Res (2015) 0.75

Fine-Scale Crossover Rate Variation on the Caenorhabditis elegans X Chromosome. G3 (Bethesda) (2016) 0.75

Parallel or convergent evolution in human population genomic data revealed by genotype networks. BMC Evol Biol (2016) 0.75

An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndrome. Sci Rep (2017) 0.75

Regionally Smoothed Meta-Analysis Methods for GWAS Datasets. Genet Epidemiol (2015) 0.75

Connecting theory and data to understand recombination rate evolution. Philos Trans R Soc Lond B Biol Sci (2017) 0.75

Variation in Recombination Rate and Its Genetic Determinism in Sheep Populations. Genetics (2017) 0.75

PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet (2007) 209.92

A high-resolution recombination map of the human genome. Nat Genet (2002) 28.66

Large-scale analysis of the human and mouse transcriptomes. Proc Natl Acad Sci U S A (2002) 25.47

Epidemiological approaches to heart disease: the Framingham Study. Am J Public Health Nations Health (1951) 20.27

Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med (2008) 19.71

NCBI GEO: mining tens of millions of expression profiles--database and tools update. Nucleic Acids Res (2006) 19.42

Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am J Hum Genet (1998) 19.35

A common inversion under selection in Europeans. Nat Genet (2005) 13.66

High-resolution mapping of crossovers reveals extensive variation in fine-scale recombination patterns among humans. Science (2008) 5.02

A high-resolution single nucleotide polymorphism genetic map of the mouse genome. PLoS Biol (2006) 4.57

The origin of human aneuploidy: where we have been, where we are going. Hum Mol Genet (2007) 3.72

Sequence variants in the RNF212 gene associate with genome-wide recombination rate. Science (2008) 3.00

Crossover interference underlies sex differences in recombination rates. Trends Genet (2007) 2.04

Initiation of meiotic recombination by formation of DNA double-strand breaks: mechanism and regulation. Biochem Soc Trans (2006) 1.99

Flow cytometric characterization of viable meiotic and postmeiotic cells by Hoechst 33342 in mouse spermatogenesis. Cytometry A (2005) 1.97

Cyclin-dependent kinase directly regulates initiation of meiotic recombination. Cell (2006) 1.79

'Side Population' cells in adult mouse testis express Bcrp1 gene and are enriched in spermatogonia and germinal stem cells. Development (2003) 1.72

The emerging role of PDZ adapter proteins for regulation of intestinal ion transport. Am J Physiol Gastrointest Liver Physiol (2006) 1.64

Effect of meiotic recombination on the production of aneuploid gametes in humans. Cytogenet Genome Res (2005) 1.61

Polymorphic variation in human meiotic recombination. Am J Hum Genet (2007) 1.49

On Spo16 and the coefficient of coincidence. Genetics (2008) 0.85

Genetic analysis of genome-wide variation in human gene expression. Nature (2004) 27.28

Widespread RNA and DNA sequence differences in the human transcriptome. Science (2011) 11.45

Common genetic variants account for differences in gene expression among ethnic groups. Nat Genet (2007) 9.04

Genome partitioning of genetic variation for complex traits using common SNPs. Nat Genet (2011) 8.57

In silico method for inferring genotypes in pedigrees. Nat Genet (2006) 7.08

The FMR1 premutation and reproduction. Fertil Steril (2006) 3.85

Detectable clonal mosaicism from birth to old age and its relationship to cancer. Nat Genet (2012) 3.68

The Gene, Environment Association Studies consortium (GENEVA): maximizing the knowledge obtained from GWAS by collaboration across studies of multiple conditions. Genet Epidemiol (2010) 3.48

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet (2003) 2.71

Comprehensive literature review and statistical considerations for microarray meta-analysis. Nucleic Acids Res (2012) 2.54

Association tests using kernel-based measures of multi-locus genotype similarity between individuals. Genet Epidemiol (2010) 2.39

Genetic analysis of radiation-induced changes in human gene expression. Nature (2009) 2.30

Vinculin activation by talin through helical bundle conversion. Nature (2003) 2.26

Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet (2009) 2.12

Effects of cis and trans genetic ancestry on gene expression in African Americans. PLoS Genet (2008) 2.09

Prevalence of the fragile X syndrome in African-Americans. Am J Med Genet (2002) 2.07

RNA-sequence analysis of human B-cells. Genome Res (2011) 2.02

Decreased expression of miR-125b and miR-100 in oral cancer cells contributes to malignancy. Genes Chromosomes Cancer (2009) 1.98

What's the best statistic for a simple test of genetic association in a case-control study? Genet Epidemiol (2010) 1.95

A study of the distributional characteristics of FMR1 transcript levels in 238 individuals. Hum Genet (2004) 1.88

Regression-based quantitative-trait-locus mapping in the 21st century. Am J Hum Genet (2002) 1.87

Toxicity testing in the 21st century: a vision and a strategy. J Toxicol Environ Health B Crit Rev (2010) 1.81

Peripheral blood mononuclear cell gene expression profiles predict poor outcome in idiopathic pulmonary fibrosis. Sci Transl Med (2013) 1.81

Identification of polymorphic antioxidant response elements in the human genome. Hum Mol Genet (2007) 1.79

Transcriptional response of lymphoblastoid cells to ionizing radiation. Genome Res (2003) 1.77

Comprehensive literature review and statistical considerations for GWAS meta-analysis. Nucleic Acids Res (2012) 1.75

Coexpression network based on natural variation in human gene expression reveals gene interactions and functions. Genome Res (2009) 1.74

Crystal structure of human vinculin. Structure (2004) 1.73

New insights into human nondisjunction of chromosome 21 in oocytes. PLoS Genet (2008) 1.68

Genetic modifiers predisposing to congenital heart disease in the sensitized Down syndrome population. Circ Cardiovasc Genet (2012) 1.57

Shigella applies molecular mimicry to subvert vinculin and invade host cells. J Cell Biol (2006) 1.50

Replication of a genome-wide association study of birth weight in preterm neonates. J Pediatr (2011) 1.45

Genetic variation in radiation-induced expression phenotypes. Am J Hum Genet (2004) 1.37

Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project. Genet Med (2008) 1.36

The National Down Syndrome Project: design and implementation. Public Health Rep (2007) 1.35

No evidence for a difference in neuropsychological profile among carriers and noncarriers of the FMR1 premutation in adults under the age of 50. Am J Hum Genet (2008) 1.29

Identification of novel p53 target genes in ionizing radiation response. Cancer Res (2005) 1.28

Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range. Am J Hum Genet (2002) 1.25

Association between maternal age and meiotic recombination for trisomy 21. Am J Hum Genet (2004) 1.23

Fragile X analysis of 1112 prenatal samples from 1991 to 2010. Prenat Diagn (2011) 1.23

Maternal age and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down Syndrome Projects. Hum Genet (2008) 1.22

Nucleosome occupancy landscape and dynamics at mouse recombination hotspots. EMBO Rep (2010) 1.22

ATM gene mutations result in both recessive and dominant expression phenotypes of genes and microRNAs. Am J Hum Genet (2008) 1.21

Examination of FMR1 transcript and protein levels among 74 premutation carriers. J Hum Genet (2009) 1.20

ADAR regulates RNA editing, transcript stability, and gene expression. Cell Rep (2013) 1.19

Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles. Am J Med Genet A (2013) 1.19

Gene expression phenotype in heterozygous carriers of ataxia telangiectasia. Am J Hum Genet (2002) 1.18

GJC2 missense mutations cause human lymphedema. Am J Hum Genet (2010) 1.17

Development and validation of the Arizona Cognitive Test Battery for Down syndrome. J Neurodev Disord (2010) 1.15

Skeletal muscle fatigue, strength, and quality in the elderly: the Health ABC Study. J Appl Physiol (1985) (2005) 1.15

Recent advances in human quantitative-trait-locus mapping: comparison of methods for discordant sibling pairs. Am J Hum Genet (2003) 1.14

Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome. Genet Epidemiol (2010) 1.14

Investigation of phenotypes associated with mood and anxiety among male and female fragile X premutation carriers. Behav Genet (2008) 1.12

Etiology of Down syndrome: Evidence for consistent association among altered meiotic recombination, nondisjunction, and maternal age across populations. Am J Med Genet A (2009) 1.11

Flow cytometry purification of mouse meiotic cells. J Vis Exp (2011) 1.11

Recent advances in human quantitative-trait-locus mapping: comparison of methods for selected sibling pairs. Am J Hum Genet (2003) 1.09

Consensus characterization of 16 FMR1 reference materials: a consortium study. J Mol Diagn (2007) 1.09

Footer: a quantitative comparative genomics method for efficient recognition of cis-regulatory elements. Genome Res (2005) 1.09

Clinical significance of tri-nucleotide repeats in Fragile X testing: a clarification of American College of Medical Genetics guidelines. Genet Med (2008) 1.08

Genetic variation in fatty acid-binding protein-4 and peroxisome proliferator-activated receptor gamma interactively influence insulin sensitivity and body composition in males. Metabolism (2004) 1.07

Heritable patterns of tooth decay in the permanent dentition: principal components and factor analyses. BMC Oral Health (2012) 1.07

CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome. Am J Med Genet A (2006) 1.07

Gene expression and genetic variation in response to endoplasmic reticulum stress in human cells. Am J Hum Genet (2010) 1.07

Genome-wide association scan of dental caries in the permanent dentition. BMC Oral Health (2012) 1.06

New clinical findings in the fragile X-associated tremor ataxia syndrome (FXTAS). Neurogenetics (2011) 1.06

Is there evidence for neuropsychological and neurobehavioral phenotypes among adults without FXTAS who carry the FMR1 premutation? A review of current literature. Genet Med (2009) 1.04

SNPs made routine. Nat Methods (2004) 1.04

Linkage disequilibrium mapping in trisomic populations: analytical approaches and an application to congenital heart defects in Down syndrome. Genet Epidemiol (2004) 1.03

Fragile X premutation RNA is sufficient to cause primary ovarian insufficiency in mice. Hum Mol Genet (2012) 1.03

Referral to cancer genetic counseling: are there stages of readiness? Am J Med Genet C Semin Med Genet (2006) 1.02

An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects. Am J Hum Genet (2012) 1.01

Genetics. Genetic control of hotspots. Science (2010) 1.01

Species-wide distribution of highly polymorphic minisatellite markers suggests past and present genetic exchanges among house mouse subspecies. Genome Biol (2007) 1.00

Altered patterns of multiple recombinant events are associated with nondisjunction of chromosome 21. Hum Genet (2011) 0.99

FOOTER: a web tool for finding mammalian DNA regulatory regions using phylogenetic footprinting. Nucleic Acids Res (2005) 0.99

Fragile X-associated primary ovarian insufficiency: evidence for additional genetic contributions to severity. Genet Epidemiol (2008) 0.99

Mass spectral determination of fasting tear glucose concentrations in nondiabetic volunteers. Clin Chem (2007) 0.98

The FMR1 premutation and attention-deficit hyperactivity disorder (ADHD): evidence for a complex inheritance. Behav Genet (2011) 0.96

Increased expression of interferon-inducible genes in macaque lung tissues during simian immunodeficiency virus infection. Microbes Infect (2006) 0.95

Genetic variation in radiation-induced cell death. Genome Res (2011) 0.94

Gender-specific association of ATP-binding cassette transporter 1 (ABCA1) polymorphisms with the risk of late-onset Alzheimer's disease. Neurobiol Aging (2006) 0.94

Decisions to participate in fragile X and other genomics-related research: Native American and African American voices. J Cult Divers (2009) 0.94

Pooling-based genome-wide association study implicates gamma-glutamyltransferase 1 (GGT1) gene in pancreatic carcinogenesis. Pancreatology (2010) 0.94

Women's attitudes toward testing for fragile X carrier status: a qualitative analysis. J Genet Couns (2005) 0.93

Smarter clustering methods for SNP genotype calling. Bioinformatics (2008) 0.93

Anatomy of mouse recombination hot spots. Nucleic Acids Res (2010) 0.93

Neurodevelopmental outcomes in children with Down syndrome and congenital heart defects. Am J Med Genet A (2011) 0.92

The origin of trisomy 22: evidence for acrocentric chromosome-specific patterns of nondisjunction. Am J Med Genet A (2007) 0.91

Genome-wide microarray expression analysis of CD4+ T Cells from nonobese diabetic congenic mice identifies Cd55 (Daf1) and Acadl as candidate genes for type 1 diabetes. J Immunol (2008) 0.91

Preconception folic acid supplementation and risk for chromosome 21 nondisjunction: a report from the National Down Syndrome Project. Am J Med Genet A (2013) 0.90

Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years. G3 (Bethesda) (2014) 0.90

Regulatory conservation of protein coding and microRNA genes in vertebrates: lessons from the opossum genome. Genome Biol (2007) 0.90