Comprehensive human genetic maps: individual and sex-specific variation in recombination.
- Authors
- Broman, K W; Murray, J C; Sheffield, V C; White, R L; Weber, J L
- Year
- 1998
- Journal
- American journal of human genetics
- PMID
- 9718341
- DOI
- 10.1086/302011
- PMCID
- PMC1377399
Comprehensive human genetic maps were constructed on the basis of nearly 1 million genotypes from eight CEPH families; they incorporated >8,000 short tandem-repeat polymorphisms (STRPs), primarily from GΓ©nΓ©thon, the Cooperative Human Linkage Center, the Utah Marker Development Group, and the Marshfield Medical Research Foundation. As part of the map building process, 0.08% of the genotypes that resulted in tight double recombinants and that largely, if not entirely, represent genotyping errors, mutations, or gene-conversion events were removed. The total female, male, and sex-averaged lengths of the final maps were 44, 27, and 35 morgans, respectively. Numerous (267) sets of STRPs were identified that represented the exact same loci yet were developed independently and had different primer pairs. The distributions of the total number of recombination events per gamete, among the eight mothers of the CEPH families, were significantly different, and this variation was not due to maternal age. The female:male ratio of genetic distance varied across individual chromosomes in a remarkably consistent fashion, with peaks at the centromeres of all metacentric chromosomes. The new linkage maps plus much additional information, including a query system for use in the construction of reliably ordered maps for selected subsets of markers, are available from the Marshfield Website.
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| Extended runs of homozygosity at 17q11.2: an association with type-2 NF1 deletions? | Roehl AC et al. | β | 2010 | β |
| Fine-scale recombination rate differences between sexes, populations and individuals. | Kong A et al. | β | 2010 | β |
| Genetic linkage map of a wild genome: genomic structure, recombination and sexual dimorphism in bighorn sheep. | Poissant J et al. | β | 2010 | β |
| Genome-wide linkage analysis of multiple metabolic factors: evidence of genetic heterogeneity. | Cheng CY et al. | β | 2010 | β |
| Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. | Gunay-Aygun M et al. | β | 2010 | β |
| Linkage and association analyses identify a candidate region for apoB level on chromosome 4q32.3 in FCHL families. | Wijsman EM et al. | β | 2010 | β |
| Mammalian recombination hot spots: properties, control and evolution. | Paigen K et al. | β | 2010 | β |
| Overview of linkage analysis in complex traits. | Bush WS et al. | β | 2010 | β |
| Patterns of recombination activity on mouse chromosome 11 revealed by high resolution mapping. | Billings T et al. | β | 2010 | β |
| Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD). | ZiΔtkiewicz E et al. | β | 2010 | β |
| Potentials and limits of pairwise kinship analysis using autosomal short tandem repeat loci. | Nothnagel M et al. | β | 2010 | β |
| PRDM9 marks the spot. | McVean G et al. | β | 2010 | β |
| Structure and size variations between 12A and 12D homoeologous chromosomes based on high-resolution cytogenetic map in allotetraploid cotton. | Wang K et al. | β | 2010 | β |
| What drives recombination hotspots to repeat DNA in humans? | McVean G | β | 2010 | 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 |
| A linkage map of the porcine genome from a large-scale White Duroc x Erhualian resource population and evaluation of factors affecting recombination rates. | Guo Y et al. | β | 2009 | β |
| Analysis of eighteen deletion breakpoints in the parkin gene. | Asakawa S et al. | β | 2009 | β |
| A new standard genetic map for the laboratory mouse. | Cox A et al. | β | 2009 | β |
| Annotated chromosome maps for renal disease. | McKnight AJ et al. | β | 2009 | β |
| A novel locus for arterial hypertension on chromosome 1p36 maps to a metabolic syndrome trait cluster in the Sorbs, a Slavic population isolate in Germany. | Hoffmann K et al. | β | 2009 | β |
| A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family. | Shearer AE et al. | β | 2009 | β |
| A syndrome with congenital neutropenia and mutations in G6PC3. | Boztug K et al. | β | 2009 | β |
| Broad-scale recombination patterns underlying proper disjunction in humans. | Fledel-Alon A et al. | β | 2009 | β |
| Familial autosomal dominant reflex epilepsy triggered by hot water maps to 4q24-q28. | Ratnapriya R et al. | β | 2009 | β |
| Further analysis of previously implicated linkage regions for Alzheimer's disease in affected relative pairs. | Blom ES et al. | β | 2009 | β |
| Genetic analysis of variation in human meiotic recombination. | Chowdhury R et al. | β | 2009 | β |
| Genomic convergence of genome-wide investigations for complex traits. | Kitsios GD et al. | β | 2009 | β |
| HapMap methylation-associated SNPs, markers of germline DNA methylation, positively correlate with regional levels of human meiotic recombination. | Sigurdsson MI et al. | β | 2009 | β |
| Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing. | Alef T et al. | β | 2009 | β |
| Identification of novel susceptibility loci for Guam neurodegenerative disease: challenges of genome scans in genetic isolates. | Sieh W et al. | β | 2009 | β |
| Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. | Glocker EO et al. | β | 2009 | β |
| Locations and patterns of meiotic recombination in two-generation pedigrees. | Ting JC et al. | β | 2009 | β |
| Maternal fumonisin exposure as a risk factor for neural tube defects. | Gelineau-van Waes J et al. | β | 2009 | β |
| Meiotic recombination in human oocytes. | Cheng EY et al. | β | 2009 | β |
| Meta-analysis of genome-wide linkage studies across autoimmune diseases. | Forabosco P et al. | β | 2009 | β |
| Meta-analysis of genome-wide linkage studies in celiac disease. | Forabosco P et al. | β | 2009 | β |
| Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39. | Schultz JM et al. | β | 2009 | β |
| OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. | Coene KL et al. | β | 2009 | β |
| Robust physical methods that enrich genomic regions identical by descent for linkage studies: confirmation of a locus for osteogenesis imperfecta. | Brooks P et al. | β | 2009 | β |
| Sequence determinants of human microsatellite variability. | Pemberton TJ et al. | β | 2009 | β |
| The association between interferon regulatory factor 6 (IRF6) and nonsyndromic cleft lip with or without cleft palate in a Honduran population. | Diercks GR et al. | β | 2009 | β |
| The evolution of heterochiasmy: the role of sexual selection and sperm competition in determining sex-specific recombination rates in eutherian mammals. | Mank JE | β | 2009 | β |
| The human Major Histocompatibility Complex as a paradigm in genomics research. | Vandiedonck C et al. | β | 2009 | β |
| The new yeast is a mouse. | Borts RH | β | 2009 | β |
| Two-parameter characterization of chromosome-scale recombination rate. | Li W et al. | β | 2009 | β |
| Variation in genomic recombination rates among heterogeneous stock mice. | Dumont BL et al. | β | 2009 | β |
| Variation in patterns of human meiotic recombination. | Khil PP et al. | β | 2009 | β |
| A gene-based genetic linkage map of the collared flycatcher (Ficedula albicollis) reveals extensive synteny and gene-order conservation during 100 million years of avian evolution. | BackstrΓΆm N et al. | β | 2008 | β |
| A genome-wide Asian genetic map and ethnic comparison: the GENDISCAN study. | Ju YS et al. | β | 2008 | β |
| A novel locus for idiopathic generalized epilepsy in French-Canadian families maps to 10p11. | Kinirons P et al. | β | 2008 | β |
| A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia. | Rasool M et al. | β | 2008 | β |
| A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice. | Fantauzzo KA et al. | β | 2008 | β |
| A quantitative assay for crossover and noncrossover molecular events at individual recombination hotspots in both male and female gametes. | Ng SH et al. | β | 2008 | β |
| Comparative evolutionary genomics of human malaria parasites. | Carlton JM et al. | β | 2008 | β |
| Congenital, low penetrance lymphedema of lower limbs maps to chromosome 6q16.2-q22.1 in an inbred Pakistani family. | Malik S et al. | β | 2008 | β |
| Evolution of the genomic rate of recombination in mammals. | Dumont BL et al. | β | 2008 | β |
| Expanded high-resolution genetic study of 109 Swedish families with Alzheimer's disease. | SillΓ©n A et al. | β | 2008 | β |
| Extreme heterochiasmy and nascent sex chromosomes in European tree frogs. | Berset-BrΓ€ndli L et al. | β | 2008 | β |
| Fraction of informative recombinations: a heuristic approach to analyze recombination rates. | Lefebvre JF et al. | β | 2008 | β |
| From linkage maps to quantitative trait loci: the history and science of the Utah genetic reference project. | Prescott SM et al. | β | 2008 | β |
| Genome-wide linkage analysis of heroin dependence in Han Chinese: results from Wave Two of a multi-stage study. | Glatt SJ et al. | β | 2008 | β |
| Heterogeneous dysregulation of microRNAs across the autism spectrum. | Abu-Elneel K et al. | β | 2008 | β |
| High-resolution mapping of crossovers reveals extensive variation in fine-scale recombination patterns among humans. | Coop G et al. | β | 2008 | β |
| Human genetic resistance to Onchocerca volvulus: evidence for linkage to chromosome 2p from an autosome-wide scan. | Timmann C et al. | β | 2008 | β |
| Identification of a chromosome 8p locus for early-onset coronary heart disease in a French Canadian population. | Engert JC et al. | β | 2008 | β |
| Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1. | Peczkowska M et al. | β | 2008 | β |
| Meta-analysis of 23 type 2 diabetes linkage studies from the International Type 2 Diabetes Linkage Analysis Consortium. | Guan W et al. | β | 2008 | β |
| Parental effect of DNA (Cytosine-5) methyltransferase 1 on grandparental-origin-dependent transmission ratio distortion in mouse crosses and human families. | Yang L et al. | β | 2008 | β |
| Refinement of molecular approaches to improve the chance of identification of hematopoietic-restricted minor histocompatibility antigens. | de Rijke B et al. | β | 2008 | β |
| Sequence variants in the RNF212 gene associate with genome-wide recombination rate. | Kong A et al. | β | 2008 | β |
| Sex-specific genetic architecture of human disease. | Ober C et al. | β | 2008 | β |
| Shared genomic segment analysis. Mapping disease predisposition genes in extended pedigrees using SNP genotype assays. | Thomas A et al. | β | 2008 | β |
| Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13. | Kemlink D et al. | β | 2008 | β |
| The human pseudoautosomal regions: a review for genetic epidemiologists. | Flaquer A et al. | β | 2008 | β |
| The opossum genome: insights and opportunities from an alternative mammal. | Samollow PB | β | 2008 | β |
| The recombinational anatomy of a mouse chromosome. | Paigen K et al. | β | 2008 | β |
| Variation in WNT7A is unlikely to be a cause of familial congenital talipes equinovarus. | Liu G et al. | β | 2008 | β |
| Why are sex and recombination so common? | Hadany L et al. | β | 2008 | β |
| A Genetic linkage map of Atlantic halibut (Hippoglossus hippoglossus L.). | Reid DP et al. | β | 2007 | β |
| A genetic linkage map of the vervet monkey (Chlorocebus aethiops sabaeus). | Jasinska AJ et al. | β | 2007 | β |
| Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications. | Torres-Juan L et al. | β | 2007 | β |
| An evolutionary view of human recombination. | Coop G et al. | β | 2007 | β |
| An extension of the transmission disequilibrium test incorporating imprinting. | Hu YQ et al. | β | 2007 | β |
| A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22. | Bhuiyan ZA et al. | β | 2007 | β |
| A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4. | Kalay E et al. | β | 2007 | β |
| A simple method for detection of imprinting effects based on case-parents trios. | Zhou JY et al. | β | 2007 | β |
| A third-generation microsatellite-based linkage map of the honey bee, Apis mellifera, and its comparison with the sequence-based physical map. | Solignac M et al. | β | 2007 | β |
| Autosomal linkage analysis of a Japanese single multiplex schizophrenia pedigree reveals two candidate loci on chromosomes 4q and 3q. | Kaneko N et al. | β | 2007 | β |
| Cis- and trans-acting elements regulate the mouse Psmb9 meiotic recombination hotspot. | Baudat F et al. | β | 2007 | β |
| Comprehensive multi-stage linkage analyses identify a locus for adult height on chromosome 3p in a healthy Caucasian population. | Ellis JA et al. | β | 2007 | β |
| Crossover interference underlies sex differences in recombination rates. | Petkov PM et al. | β | 2007 | β |
| Data acquisition for meta-analysis of genome-wide linkage studies using the genome search meta-analysis method. | Forabosco P et al. | β | 2007 | β |
| Effects of recombination rate on human endogenous retrovirus fixation and persistence. | Katzourakis A et al. | β | 2007 | β |
| Evidence for a quantitative trait locus affecting low levels of apolipoprotein B and low density lipoprotein on chromosome 10 in Caucasian families. | Sherva R et al. | β | 2007 | β |
| Evidence for a susceptibility locus on chromosome 10p15 in early-onset obsessive-compulsive disorder. | Hanna GL et al. | β | 2007 | β |
| Family-based association study of the restless legs syndrome loci 2 and 3 in a European population. | Kemlink D et al. | β | 2007 | β |
| Follow-up analysis of PSORS9 in 151 Chinese families confirmed the linkage to 4q31-32 and refined the evidence to the families of early-onset psoriasis. | Yan KL et al. | β | 2007 | β |
| Genome-wide linkage analysis for aggressive prostate cancer in Utah high-risk pedigrees. | Christensen GB et al. | β | 2007 | β |
| Genome-wide linkage analysis of 160 North American families with celiac disease. | Garner CP et al. | β | 2007 | β |
| Genome-wide linkage of 77 families from the African American Hereditary Prostate Cancer study (AAHPC). | Baffoe-Bonnie AB et al. | β | 2007 | β |
| Genome-wide scan of bipolar II disorder. | Nwulia EA et al. | β | 2007 | β |
| High density SNP association study of a major autism linkage region on chromosome 17. | Stone JL et al. | β | 2007 | β |
| Improving estimates of genetic maps: a meta-analysis-based approach. | Stewart WC | β | 2007 | β |
| Linkage analysis using sex-specific recombination fractions with GENEHUNTER-MODSCORE. | Dietter J et al. | β | 2007 | β |
| Linkage study of 14 candidate genes and loci in four large Dutch families with vesico-ureteral reflux. | van Eerde AM et al. | β | 2007 | β |
| Malic enzyme 2 and susceptibility to psychosis and mania. | Lee BD et al. | β | 2007 | β |
| Mammalian meiotic recombination hot spots. | Arnheim N et al. | β | 2007 | β |
| Meiotic recombination in Turnera (Turneraceae): extreme sexual difference in rates, but no evidence for recombination suppression associated with the distyly (S) locus. | Labonne JD et al. | β | 2007 | β |
| Meta analysis of whole-genome linkage scans with data uncertainty: an application to Parkinson's disease. | Rosenberger A et al. | β | 2007 | β |
| Mitotic recombination and uniparental disomy in Beckwith-Wiedemann syndrome. | Cooper WN et al. | β | 2007 | β |
| Polymorphic variation in human meiotic recombination. | Cheung VG et al. | β | 2007 | β |
| Pure hair-nail ectodermal dysplasia maps to chromosome 12p11.1-q21.1 in a consanguineous Pakistani family. | Naeem M et al. | β | 2007 | β |
| Regulating double-stranded DNA break repair towards crossover or non-crossover during mammalian meiosis. | Baudat F et al. | β | 2007 | β |
| Simple models of genomic variation in human SNP density. | Sainudiin R et al. | β | 2007 | β |
| Suggestive genetic linkage to chromosome 11p11.2-q12.2 in hereditary prostate cancer families with primary kidney cancer. | Johanneson B et al. | β | 2007 | β |
| Sweet taste preferences are partly genetically determined: identification of a trait locus on chromosome 16. | Keskitalo K et al. | β | 2007 | β |
| The transmission disequilibrium test and imprinting effects test based on case-parent pairs. | Hu YQ et al. | β | 2007 | β |
| A genomewide single-nucleotide-polymorphism panel with high ancestry information for African American admixture mapping. | Tian C et al. | β | 2006 | β |
| A high-resolution single nucleotide polymorphism genetic map of the mouse genome. | Shifman S et al. | β | 2006 | β |
| A linkage map for brown trout (Salmo trutta): chromosome homeologies and comparative genome organization with other salmonid fish. | Gharbi K et al. | β | 2006 | β |
| An integrated genetic map for linkage analysis. | Duffy DL | β | 2006 | β |
| A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3. | Hassan MJ et al. | β | 2006 | β |
| A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly. | Gul A et al. | β | 2006 | β |
| A novel locus on 19q13 associated with autosomal-dominant macular dystrophy in a large Greek family. | Yang Z et al. | β | 2006 | β |
| A novel missense mutation in MSX1 underlies autosomal recessive oligodontia with associated dental anomalies in Pakistani families. | Chishti MS et al. | β | 2006 | β |
| A posterior probability of linkage-based re-analysis of schizophrenia data yields evidence of linkage to chromosomes 1 and 17. | Logue MW et al. | β | 2006 | β |
| Characterization of a susceptibility locus for SLE, SLEB5, on chromosome 4p14-13. | Johansson CM et al. | β | 2006 | β |
| Coincident linkage of type 2 diabetes, metabolic syndrome, and measures of cardiovascular disease in a genome scan of the diabetes heart study. | Bowden DW et al. | β | 2006 | β |
| Combined linkage and association analyses of the 124-bp allele of marker D2S2944 with anxiety, depression, neuroticism and major depression. | Beem AL et al. | β | 2006 | β |
| Comparison of human (and other) genome browsers. | Furey TS | β | 2006 | β |
| DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2. | Santos RL et al. | β | 2006 | β |
| Epistasis between type 2 diabetes susceptibility Loci on chromosomes 1q21-25 and 10q23-26 in northern Europeans. | Wiltshire S et al. | β | 2006 | β |
| Evaluation of the 4q32-34 locus in European familial pancreatic cancer. | Earl J et al. | β | 2006 | β |
| Exploration of the genetic architecture of idiopathic generalized epilepsies. | Hempelmann A et al. | β | 2006 | β |
| Fine-mapping chromosome 20 in 230 systemic lupus erythematosus sib pair and multiplex families: evidence for genetic epistasis with chromosome 16q12. | Gaffney PM et al. | β | 2006 | β |
| Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM gene. | Gul A et al. | β | 2006 | β |
| Genome scan of Han Chinese schizophrenia families from Taiwan: confirmation of linkage to 10q22.3. | Faraone SV et al. | β | 2006 | β |
| Genome-wide linkage analysis of heroin dependence in Han Chinese: results from wave one of a multi-stage study. | Glatt SJ et al. | 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 |
| Genome-wide linkage screen for testicular germ cell tumour susceptibility loci. | Crockford GP et al. | β | 2006 | β |
| Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study. | Li JL et al. | β | 2006 | β |
| Genomic and evolutionary insights into genes encoding proteins with single amino acid repeats. | Siwach P et al. | β | 2006 | β |
| Genomic loci with pleiotropic effects on coronary artery calcification. | Turner ST et al. | β | 2006 | β |
| Genomic resources for Xiphophorus research. | Walter RB et al. | β | 2006 | β |
| High recombination frequency creates genotypic diversity in colonies of the leaf-cutting ant Acromyrmex echinatior. | SirviΓΆ A et al. | β | 2006 | β |
| High-resolution recombination patterns in a region of human chromosome 21 measured by sperm typing. | Tiemann-Boege I et al. | β | 2006 | β |
| Human chromosome 11 DNA sequence and analysis including novel gene identification. | Taylor TD et al. | β | 2006 | β |
| Human polymorphism around recombination hotspots. | Spencer CC | β | 2006 | β |
| Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2. | Jung J et al. | β | 2006 | β |
| Improving estimates of genetic maps: a maximum likelihood approach. | Stewart WC et al. | β | 2006 | β |
| Insights into recombination from population genetic variation. | Hellenthal G et al. | β | 2006 | β |
| Linkage mapping and physical localization of the major histocompatibility complex region of the marsupial Monodelphis domestica. | Gouin N et al. | β | 2006 | β |
| Linkage of autosomal-dominant common variable immunodeficiency to chromosome 4q. | Finck A et al. | β | 2006 | β |
| Localization of a novel autosomal recessive nonsyndromic hearing impairment locus DFNB65 to chromosome 20q13.2-q13.32. | Tariq A et al. | β | 2006 | β |
| Maternal polymorphisms 677C-T and 1298A-C of MTHFR, and 66A-G MTRR genes: is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down syndrome? | MartΓnez-FrΓas ML et al. | β | 2006 | β |
| Meiosis in mammals: recombination, non-disjunction and the environment. | Hunt PA | β | 2006 | β |
| MLH1-focus mapping in birds shows equal recombination between sexes and diversity of crossover patterns. | CalderΓ³n PL et al. | β | 2006 | β |
| Molecular features of meiotic recombination hot spots. | Nishant KT et al. | β | 2006 | β |
| Myofibrillogenesis regulator 1 gene (MR-1) mutation in an Omani family with paroxysmal nonkinesigenic dyskinesia. | Hempelmann A et al. | β | 2006 | β |
| Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment. | Santos RL et al. | β | 2006 | β |
| Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21. | Beattie ML et al. | β | 2006 | β |
| Search for autism loci by combined analysis of Autism Genetic Resource Exchange and Finnish families. | Ylisaukko-oja T et al. | β | 2006 | β |
| Shared susceptibility region on chromosome 15 between autism and catatonia. | Chagnon YC | β | 2006 | β |
| The distribution and causes of meiotic recombination in the human genome. | Myers S et al. | β | 2006 | β |
| The human cathepsin H gene encodes two novel minor histocompatibility antigen epitopes restricted by HLA-A*3101 and -A*3303. | Torikai H et al. | β | 2006 | β |
| The impact of data quality on the identification of complex disease genes: experience from the Family Blood Pressure Program. | Chang YP et al. | β | 2006 | β |
| The mapping of DFNB62, a new locus for autosomal recessive non-syndromic hearing impairment, to chromosome 12p13.2-p11.23. | Ali G et al. | β | 2006 | β |
| The synaptonemal complex and meiotic recombination in humans: new approaches to old questions. | Vallente RU et al. | β | 2006 | β |
| Two-dimensional genome-scan identifies novel epistatic loci for essential hypertension. | Bell JT et al. | β | 2006 | β |
| Using sex-averaged genetic maps in multipoint linkage analysis when identity-by-descent status is incompletely known. | Fingerlin TE et al. | β | 2006 | β |
| A common inversion under selection in Europeans. | Stefansson H et al. | β | 2005 | β |
| A fine-scale map of recombination rates and hotspots across the human genome. | Myers S et al. | β | 2005 | β |
| A frameshift polymorphism in P2X5 elicits an allogeneic cytotoxic T lymphocyte response associated with remission of chronic myeloid leukemia. | de Rijke B et al. | β | 2005 | β |
| A haplotype map of the human genome. | International HapMap Consortium | β | 2005 | β |
| A locus for familial generalized lentiginosis without systemic involvement maps to chromosome 4q21.1-q22.3. | Xing Q et al. | β | 2005 | β |
| An autosomal genomic scan for loci linked to type 2 diabetes in northern Han Chinese. | Zhao JY et al. | β | 2005 | β |
| A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3. | Aslam M et al. | β | 2005 | β |
| A novel locus for autosomal-dominant dilated cardiomyopathy maps to chromosome 7q22.3-31.1. | SchΓΆnberger J et al. | β | 2005 | β |
| Association between maternal age and meiotic recombination for trisomy 21. | Lamb NE et al. | β | 2005 | β |
| A variance component analysis on recombination rate in the COGA pedigrees. | Wang L et al. | β | 2005 | β |
| A whole-genome scan for 24-hour respiration rate: a major locus at 10q26 influences respiration during sleep. | de Geus EJ et al. | β | 2005 | β |
| Common arterial trunk associated with a homeodomain mutation of NKX2.6. | Heathcote K et al. | β | 2005 | β |
| Comparison of male and female meiotic segregation patterns in translocation heterozygotes: a case study in an animal model (Sus scrofa domestica L.). | Pinton A et al. | β | 2005 | β |
| Cross-species replication of a serum osteocalcin quantitative trait locus on human chromosome 16q in pedigreed baboons. | Havill LM et al. | β | 2005 | β |
| Description of the data from the Collaborative Study on the Genetics of Alcoholism (COGA) and single-nucleotide polymorphism genotyping for Genetic Analysis Workshop 14. | Edenberg HJ et al. | β | 2005 | β |
| Ethnicity and human genetic linkage maps. | Jorgenson E et al. | β | 2005 | β |
| Evaluation of linkage disequilibrium and its effect on non-parametric multipoint linkage analysis using two high density single-nucleotide polymorphism mapping panels. | Murray SS | β | 2005 | β |
| Evaluation of multiple displacement amplification in a 5 cM STR genome-wide scan. | Dickson PA et al. | β | 2005 | β |
| Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene. | Wassink TH et al. | β | 2005 | β |
| Evidence for linkage on 21q and 7q in a subset of autism characterized by developmental regression. | Molloy CA et al. | β | 2005 | β |
| Extreme heterogeneity in the molecular events leading to the establishment of chiasmata during meiosis i in human oocytes. | Lenzi ML et al. | β | 2005 | β |
| Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein. | Sundin OH et al. | β | 2005 | β |
| Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree. | Toomes C et al. | β | 2005 | β |
| Generation and annotation of the DNA sequences of human chromosomes 2 and 4. | Hillier LW et al. | β | 2005 | β |
| Genetic association studies of complex traits: design and analysis issues. | Newton-Cheh C et al. | β | 2005 | β |
| Genetic dissection of photosensitivity and its relation to idiopathic generalized epilepsy. | Tauer U et al. | β | 2005 | β |
| Genetics of psoriasis in Iceland: evidence for linkage of subphenotypes to distinct Loci. | Karason A et al. | β | 2005 | β |
| Genome-wide analysis of the frequency and distribution of crossovers at male and female meiosis in Sinapis alba L. (white mustard). | Nelson MN et al. | β | 2005 | β |
| Genome-wide identity-by-descent sharing among CEPH siblings. | Gagnon A et al. | β | 2005 | β |
| Genome-wide linkage analyses and candidate gene fine mapping for HDL3 cholesterol: the Framingham Study. | Yang Q et al. | β | 2005 | β |
| Genome-wide linkage analysis of mandibular prognathism in Korean and Japanese patients. | Yamaguchi T et al. | β | 2005 | β |
| Genome-wide linkage scan of epilepsy-related photoparoxysmal electroencephalographic response: evidence for linkage on chromosomes 7q32 and 16p13. | Pinto D et al. | β | 2005 | β |
| Genomic susceptibility loci for brain atrophy in hypertensive sibships from the GENOA study. | Turner ST et al. | β | 2005 | β |
| High factor VIII levels in venous thromboembolism show linkage to imprinted loci on chromosomes 5 and 11. | Berger M et al. | β | 2005 | β |
| Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). | Ferguson PJ et al. | β | 2005 | β |
| Increased nuchal translucency and split-hand/foot malformation in a fetus with an interstitial deletion of chromosome 2q that removes the SHFM5 locus. | Bijlsma EK et al. | β | 2005 | β |
| International Equine Gene Mapping Workshop Report: a comprehensive linkage map constructed with data from new markers and by merging four mapping resources. | Penedo MC et al. | β | 2005 | β |
| Joint multi-population analysis for genetic linkage of bipolar disorder or "wellness" to chromosome 4p. | Visscher PM et al. | β | 2005 | β |
| Large-scale recombination rate patterns are conserved among human populations. | Serre D et al. | β | 2005 | β |
| Linkage analysis of affected sib pairs allowing for parent-of-origin effects. | Wu CC et al. | β | 2005 | β |
| Linkage mapping reveals sex-dimorphic map distances in a passerine bird. | Hansson B et al. | β | 2005 | β |
| Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB55 to chromosome 4q12-q13.2. | Irshad S et al. | β | 2005 | β |
| Localization of MMR proteins on meiotic chromosomes in mice indicates distinct functions during prophase I. | Kolas NK et al. | β | 2005 | β |
| Loci contributing to adult height and body mass index in African American families ascertained for type 2 diabetes. | Sale MM et al. | β | 2005 | β |
| MAP-O-MAT: internet-based linkage mapping. | Kong X et al. | β | 2005 | β |
| Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41. | HodanovΓ‘ K et al. | β | 2005 | β |
| Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31. | Mir A et al. | β | 2005 | β |
| Meiotic instability of chicken ultra-long telomeres and mapping of a 2.8 megabase array to the W-sex chromosome. | Rodrigue KL et al. | β | 2005 | β |
| Molecular tagging of a senescence gene by introgression mapping of a stay-green mutation from Festuca pratensis. | Moore BJ et al. | β | 2005 | β |
| Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome. | Tatton-Brown K et al. | β | 2005 | β |
| Multiple QTLs influencing triglyceride and HDL and total cholesterol levels identified in families with atherogenic dyslipidemia. | Yu Y et al. | β | 2005 | β |
| Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. | Eckl KM et al. | β | 2005 | β |
| Negative correlation between compositional symmetries and local recombination rates. | Chen L et al. | β | 2005 | β |
| Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy. | Lohi H et al. | β | 2005 | β |
| Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment. | Santos RL et al. | β | 2005 | β |
| Optimizing the evidence for linkage by permuting marker order. | Jun G et al. | β | 2005 | β |
| Pedigree linkage disequilibrium mapping of quantitative trait loci. | Fan R et al. | β | 2005 | β |
| Quantitative trait loci for human muscle strength: linkage analysis of myostatin pathway genes. | Huygens W et al. | β | 2005 | β |
| Recombination difference between sexes: a role for haploid selection. | Lenormand T et al. | β | 2005 | β |
| Refined localization of a punctate palmoplantar keratoderma gene to a 5.06-cM region at 15q22.2-15q22.31. | Gao M et al. | β | 2005 | β |
| Sequence features in regions of weak and strong linkage disequilibrium. | Smith AV et al. | β | 2005 | β |
| Sex-linked recombination variation and distribution of disease-related genes. | Chelala C et al. | β | 2005 | β |
| Sex, not genotype, determines recombination levels in mice. | Lynn A et al. | β | 2005 | β |
| SimPed: a simulation program to generate haplotype and genotype data for pedigree structures. | Leal SM et al. | β | 2005 | β |
| Study of folate receptor genes in nonsyndromic familial and sporadic cleft lip with or without cleft palate cases. | Scapoli L et al. | β | 2005 | β |
| The incorporation of prior genomic information does not necessarily improve the performance of Bayesian linkage methods: an example involving sex-specific recombination and the two-point PPL. | Logue MW et al. | β | 2005 | β |
| The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes. | McKay JD et al. | β | 2005 | β |
| TPMD: a database and resources of microsatellite marker genotyped in Taiwanese populations. | Chang YH et al. | β | 2005 | β |
| Two major QTLs and several others relate to factors of metabolic syndrome in the family blood pressure program. | Kraja AT et al. | β | 2005 | β |
| Variation in meiotic recombination frequencies among human males. | Sun F et al. | β | 2005 | β |
| Whole-genome association analysis to identify markers associated with recombination rates using single-nucleotide polymorphisms and microsatellites. | Huang S et al. | β | 2005 | β |
| A combined linkage-physical map of the human genome. | Kong X et al. | β | 2004 | β |
| A gene for freckles maps to chromosome 4q32-q34. | Zhang XJ et al. | β | 2004 | β |
| A genome scan for diabetic nephropathy in African Americans. | Bowden DW et al. | β | 2004 | β |
| A genome scan in 260 inflammatory bowel disease-affected relative pairs. | Barmada MM et al. | β | 2004 | β |
| A genomewide scan for early-onset coronary artery disease in 438 families: the GENECARD Study. | Hauser ER et al. | β | 2004 | β |
| A genome-wide scan for type 2 diabetes in African-American families reveals evidence for a locus on chromosome 6q. | Sale MM et al. | β | 2004 | β |
| A genomewide scan identifies novel early-onset primary open-angle glaucoma loci on 9q22 and 20p12. | Wiggs JL et al. | β | 2004 | β |
| A highly informative SNP linkage panel for human genetic studies. | Murray SS et al. | β | 2004 | β |
| A large set of Finnish affected sibling pair families with type 2 diabetes suggests susceptibility loci on chromosomes 6, 11, and 14. | Silander K et al. | β | 2004 | β |
| Analysis of CHEK2 gene for ovarian cancer susceptibility. | Baysal BE et al. | β | 2004 | β |
| Analysis of human mRNAs with the reference genome sequence reveals potential errors, polymorphisms, and RNA editing. | Furey TS et al. | β | 2004 | β |
| A new phenotype of recessively inherited foveal hypoplasia and anterior segment dysgenesis maps to a locus on chromosome 16q23.2-24.2. | Pal B et al. | β | 2004 | β |
| Autosomal dominant B-cell immunodeficiency, distal limb anomalies and urogenital malformations (BILU syndrome) - report of a second family. | Tischkowitz M et al. | β | 2004 | β |
| A web server for performing electronic PCR. | Rotmistrovsky K et al. | β | 2004 | β |
| Clinical, cytogenetic and molecular investigation in a fetus with Wolf-Hirschhorn syndrome with paternally derived 4p deletion. Case report and review of the literature. | Dietze I et al. | β | 2004 | β |
| Clustering of minimal deleted regions reveals distinct genetic pathways of human hepatocellular carcinoma. | Jou YS et al. | β | 2004 | β |
| Comparative recombination rates in the rat, mouse, and human genomes. | Jensen-Seaman MI et al. | β | 2004 | β |
| Cytological studies of meiotic recombination in human males. | Hassold T et al. | β | 2004 | β |
| DFNB44, a novel autosomal recessive non-syndromic hearing impairment locus, maps to chromosome 7p14.1-q11.22. | Ansar M et al. | β | 2004 | β |
| Direct IBD mapping: identical-by-descent mapping without genotyping. | Smirnov D et al. | β | 2004 | β |
| DNA sequence and analysis of human chromosome 9. | Humphray SJ et al. | β | 2004 | β |
| Evidence and characteristics of putative human alpha recombination hotspots. | Zhang J et al. | β | 2004 | β |
| Evidence for a type 1 diabetes susceptibility locus (IDDM10) on chromosome 10p11-q11 in a Russian population. | Chistiakov DA et al. | β | 2004 | β |
| Evidence for extensive transmission distortion in the human genome. | ZΓΆllner S et al. | β | 2004 | β |
| Evidence for interaction between the TCO and NMTC1 loci in familial non-medullary thyroid cancer. | McKay JD et al. | β | 2004 | β |
| Evidence of linkage and association on chromosome 20 for late-onset Alzheimer disease. | Goddard KA et al. | β | 2004 | β |
| Examination of potential overlap in autism and language loci on chromosomes 2, 7, and 13 in two independent samples ascertained for specific language impairment. | Bartlett CW et al. | β | 2004 | β |
| Finding prostate cancer susceptibility genes. | Ostrander EA et al. | β | 2004 | β |
| Fine mapping of 10q and 18q for familial Alzheimer's disease in Caribbean Hispanics. | Lee JH et al. | β | 2004 | β |
| First-generation linkage map of the gray, short-tailed opossum, Monodelphis domestica, reveals genome-wide reduction in female recombination rates. | Samollow PB et al. | β | 2004 | β |
| Genetic approaches to assessing evidence for a T helper type 1 cytokine defect in adult asthma. | Birkisson IF et al. | β | 2004 | β |
| Genetic approaches to identify disease genes for birth defects with cleft lip/palate as a model. | Lidral AC et al. | β | 2004 | β |
| Genetic susceptibility in familial melanoma from northeastern Italy. | Landi MT et al. | β | 2004 | β |
| Genome-wide linkage analysis of chromogranin B expression in the CEPH pedigrees: implications for exocytotic sympathochromaffin secretion in humans. | Greenwood TA et al. | β | 2004 | β |
| Genomewide linkage analysis of familial prostate cancer in the Japanese population. | Matsui H et al. | β | 2004 | β |
| Genome-wide linkage scan for loci predisposing to social phobia: evidence for a chromosome 16 risk locus. | Gelernter J et al. | β | 2004 | β |
| Genome-wide linkage survey for genetic loci that affect the risk of suicide attempts in families with recurrent, early-onset, major depression. | Zubenko GS et al. | β | 2004 | β |
| Global genetic analysis. | Elahi E et al. | β | 2004 | β |
| Guidelines for genotyping in genomewide linkage studies: single-nucleotide-polymorphism maps versus microsatellite maps. | Evans DM et al. | β | 2004 | β |
| Identification of novel locus for autosomal dominant butterfly shaped macular dystrophy on 5q21.2-q33.2. | den Hollander AI et al. | β | 2004 | β |
| Inflammatory bowel disease susceptibility loci defined by genome scan meta-analysis of 1952 affected relative pairs. | van Heel DA et al. | β | 2004 | β |
| Integrative genomics: in silico coupling of rat physiology and complex traits with mouse and human data. | Twigger SN et al. | β | 2004 | β |
| Inter-sex variation in synaptonemal complex lengths largely determine the different recombination rates in male and female germ cells. | Tease C et al. | β | 2004 | β |
| Justified chauvinism: advances in defining meiotic recombination through sperm typing. | Carrington M et al. | β | 2004 | β |
| Large-scale integration of human genetic and physical maps. | Nievergelt CM et al. | β | 2004 | β |
| Linkage analysis using single nucleotide polymorphisms. | Browning BL et al. | β | 2004 | β |
| Linkage and association mapping of a chromosome 1q21-q24 type 2 diabetes susceptibility locus in northern European Caucasians. | Das SK et al. | β | 2004 | β |
| Linkage to two separate loci in a family with a novel distal myopathy phenotype (MPD3). | Haravuori H et al. | β | 2004 | β |
| Localization of a novel locus for hereditary nail dysplasia to chromosome 17q25.1-17q25.3. | Rafiq MA et al. | β | 2004 | β |
| MaGIC: a program to generate targeted marker sets for genome-wide association studies. | Simpson CL et al. | β | 2004 | β |
| Meiotic exchange and segregation in female mice heterozygous for paracentric inversions. | Koehler KE et al. | β | 2004 | β |
| Meta-analysis of genome-wide studies of psoriasis susceptibility reveals linkage to chromosomes 6p21 and 4q28-q31 in Caucasian and Chinese Hans population. | Sagoo GS et al. | β | 2004 | β |
| Multivariate linkage analysis of blood pressure and body mass index. | Turner ST et al. | β | 2004 | β |
| Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs. | Schneider-Yin X et al. | β | 2004 | β |
| Ordered subset linkage analysis supports a susceptibility locus for age-related macular degeneration on chromosome 16p12. | Schmidt S et al. | β | 2004 | β |
| QTLs for height: results of a full genome scan in Dutch sibling pairs. | Willemsen G et al. | β | 2004 | β |
| Quantitative analysis of nucleic acids--the last few years of progress. | Ding C et al. | β | 2004 | β |
| Quantitative trait locus on chromosome 8q influences the switch from fetal to adult hemoglobin. | Garner C et al. | β | 2004 | β |
| Quasi-linkage: a confounding factor in linkage analysis of complex diseases? | Sivagnanasundaram S et al. | β | 2004 | β |
| Recombination rate and reproductive success in humans. | Kong A et al. | β | 2004 | β |
| Refining the primary open-angle glaucoma GLC1C region on chromosome 3 by haplotype analysis. | Samples JR et al. | β | 2004 | β |
| Replication study supports evidence for linkage to 9p24 in obsessive-compulsive disorder. | Willour VL et al. | β | 2004 | β |
| Reproductive behavior in wild baboons. | Alberts SC et al. | β | 2004 | β |
| Systemic lupus erythematosus (SLE) and chromosome 16: confirmation of linkage to 16q12-13 and evidence for genetic heterogeneity. | Nath SK et al. | β | 2004 | β |
| The CLCA gene locus as a modulator of the gastrointestinal basic defect in cystic fibrosis. | Ritzka M et al. | β | 2004 | β |
| The DNA sequence and analysis of human chromosome 13. | Dunham A et al. | β | 2004 | β |
| The DNA sequence and biology of human chromosome 19. | Grimwood J et al. | β | 2004 | β |
| The DNA sequence and comparative analysis of human chromosome 10. | Deloukas P et al. | β | 2004 | β |
| The effect of cold storage on recombination frequencies in human male testicular cells. | Sun F et al. | β | 2004 | β |
| The fine-scale structure of recombination rate variation in the human genome. | McVean GA et al. | β | 2004 | β |
| The sequence and analysis of duplication-rich human chromosome 16. | Martin J et al. | β | 2004 | β |
| Transmission-ratio distortion and allele sharing in affected sib pairs: a new linkage statistic with reduced bias, with application to chromosome 6q25.3. | Lemire M et al. | β | 2004 | β |
| Using lod scores to detect sex differences in male-female recombination fractions. | Feenstra B et al. | β | 2004 | β |
| Variation in human meiotic recombination. | Lynn A et al. | β | 2004 | β |
| Where the crossovers are: recombination distributions in mammals. | Kauppi L et al. | β | 2004 | β |
| A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set. | Matise TC et al. | β | 2003 | β |
| A genome-wide scan for loci predisposing to non-syndromic cleft lip with or without cleft palate in two large Syrian families. | Wyszynski DF et al. | β | 2003 | β |
| A genome-wide scan for primary open-angle glaucoma (POAG): the Barbados Family Study of Open-Angle Glaucoma. | Nemesure B et al. | β | 2003 | β |
| A genome-wide scan of pulmonary function measures in the National Heart, Lung, and Blood Institute Family Heart Study. | Wilk JB et al. | β | 2003 | β |
| A genomewide screen of 345 families for autism-susceptibility loci. | Yonan AL et al. | β | 2003 | β |
| Age-related macular degeneration--a genome scan in extended families. | Majewski J et al. | β | 2003 | β |
| A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13. | Morgan NV et al. | β | 2003 | β |
| A locus for hereditary hypotrichosis localized to human chromosome 18q21.1. | Rafique MA et al. | β | 2003 | β |
| A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23. | Chung MY et al. | β | 2003 | β |
| A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1-14q24.3 in large consanguineous kindred from Pakistan. | Ansar M et al. | β | 2003 | β |
| A second kindred linked to DFNA20 (17q25.3) reduces the genetic interval. | DeWan AT et al. | β | 2003 | β |
| Association scan of the novel psoriasis susceptibility region on chromosome 19: evidence for both susceptible and protective loci. | Hensen P et al. | β | 2003 | β |
| A study of linkage and association of body mass index in the Old Order Amish. | Platte P et al. | β | 2003 | β |
| A susceptibility gene for psoriatic arthritis maps to chromosome 16q: evidence for imprinting. | Karason A et al. | β | 2003 | β |
| Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy. | Moroi SE et al. | β | 2003 | β |
| Comparative linkage-disequilibrium analysis of the beta-globin hotspot in primates. | Wall JD et al. | β | 2003 | β |
| Crossover interference in humans. | Housworth EA et al. | β | 2003 | β |
| DFNB39, a recessive form of sensorineural hearing impairment, maps to chromosome 7q11.22-q21.12. | Wajid M et al. | β | 2003 | β |
| Distribution of meiotic recombination sites. | de Massy B | β | 2003 | β |
| Evidence for a gene influencing serum bilirubin on chromosome 2q telomere: a genomewide scan in the Framingham study. | Lin JP et al. | β | 2003 | β |
| Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome. | FrΓΌhwirth M et al. | β | 2003 | β |
| Fine mapping of the alpha-T catenin gene to a quantitative trait locus on chromosome 10 in late-onset Alzheimer's disease pedigrees. | Ertekin-Taner N et al. | β | 2003 | β |
| GALA, a database for genomic sequence alignments and annotations. | Giardine B et al. | β | 2003 | β |
| Genetic approaches to stature, pubertal timing, and other complex traits. | Palmert MR et al. | β | 2003 | β |
| Genetic linkage studies in alopecia areata. | Martinez-Mir A et al. | β | 2003 | β |
| Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22. | Chan EM et al. | β | 2003 | β |
| Genetic maps of microsatellite and single-nucleotide polymorphism markers: are the distances accurate? | Leal SM | β | 2003 | β |
| Genome association studies of complex diseases by case-control designs. | Fan R et al. | β | 2003 | β |
| Genome scan of a second wave of NIMH genetics initiative bipolar pedigrees: chromosomes 2, 11, 13, 14, and X. | Zandi PP et al. | β | 2003 | β |
| Genome scan of the fifty-six bipolar pedigrees from the NIMH genetics initiative replication sample: chromosomes 4, 7, 9, 18, 19, 20, and 21. | Willour VL et al. | β | 2003 | β |
| Genomewide linkage analysis identifies polymorphism in the human interferon-gamma receptor affecting Helicobacter pylori infection. | Thye T et al. | β | 2003 | β |
| Genomewide linkage and linkage disequilibrium analyses identify COL6A1, on chromosome 21, as the locus for ossification of the posterior longitudinal ligament of the spine. | Tanaka T et al. | β | 2003 | β |
| Genome-wide linkage survey for genetic loci that influence the development of depressive disorders in families with recurrent, early-onset, major depression. | Zubenko GS et al. | β | 2003 | β |
| Haplotype blocks and linkage disequilibrium in the human genome. | Wall JD et al. | β | 2003 | β |
| High-resolution joint linkage disequilibrium and linkage mapping of quantitative trait loci based on sibship data. | Fan R et al. | β | 2003 | β |
| Hot and cold spots of recombination in the human genome: the reason we should find them and how this can be achieved. | Arnheim N et al. | β | 2003 | β |
| Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24. | Martinez-Mir A et al. | β | 2003 | β |
| Identification of a polymorphic gene, BCL2A1, encoding two novel hematopoietic lineage-specific minor histocompatibility antigens. | Akatsuka Y et al. | β | 2003 | β |
| Identity by descent and candidate gene mapping of Richieri-Costa and Pereira syndrome. | Ferreira de Lima RL et al. | β | 2003 | β |
| Imprinted chromosomal regions of the human genome have unusually high recombination rates. | Lercher MJ et al. | β | 2003 | β |
| Inference of population structure using multilocus genotype data: linked loci and correlated allele frequencies. | Falush D et al. | β | 2003 | β |
| Irruption of genomics in the search for disease related genes. | Thomas G et al. | β | 2003 | β |
| Linkage analysis of prostate cancer susceptibility: confirmation of linkage at 8p22-23. | Wiklund F et al. | β | 2003 | β |
| Linkage disequilibrium analysis of the human adenosine deaminase (ada) gene provides evidence for a lack of correlation between hot spots of equal and unequal homologous recombination. | Cruciani F et al. | β | 2003 | β |
| Linkage disequilibrium and inference of ancestral recombination in 538 single-nucleotide polymorphism clusters across the human genome. | Clark AG et al. | β | 2003 | β |
| Linkage of a bipolar disorder susceptibility locus to human chromosome 13q32 in a new pedigree series. | Shaw SH et al. | β | 2003 | β |
| Linkage of autosomal dominant common variable immunodeficiency to chromosome 5p and evidence for locus heterogeneity. | Braig DU et al. | β | 2003 | β |
| Localisation of susceptibility genes for familial testicular germ cell tumour. | Rapley EA et al. | β | 2003 | β |
| Localization of a novel autosomal recessive non-syndromic hearing impairment locus (DFNB38) to 6q26-q27 in a consanguineous kindred from Pakistan. | Ansar M et al. | β | 2003 | β |
| Nonsyndromic seizure disorders: epilepsy and the use of the internet to advance research. | Leppert MF et al. | β | 2003 | β |
| Nonsyndromic X-linked mental retardation: where are the missing mutations? | Ropers HH et al. | β | 2003 | β |
| Ordered-subsets linkage analysis detects novel Alzheimer disease loci on chromosomes 2q34 and 15q22. | Scott WK et al. | β | 2003 | β |
| Pedigree and genotype errors in the Framingham Heart Study. | Brush G et al. | β | 2003 | β |
| Pedigree data analysis with crossover interference. | Browning S | β | 2003 | β |
| Possible parent-of-origin effect of Dopa decarboxylase in susceptibility to bipolar affective disorder. | BΓΈrglum AD et al. | β | 2003 | β |
| Prenatal detection of mosaic trisomy 1q due to an unbalanced translocation in one fetus of a twin pregnancy following in vitro fertilization: a postzygotic error. | Zeng S et al. | β | 2003 | β |
| Refining the linkage analysis on chromosome 10 in 449 sib-pairs with multiple sclerosis. | Akesson E et al. | β | 2003 | β |
| Sequence variations in CREB1 cosegregate with depressive disorders in women. | Zubenko GS et al. | β | 2003 | β |
| Sex-specific telomere redistribution and synapsis initiation in cattle oogenesis. | Pfeifer C et al. | β | 2003 | β |
| STRP screening sets for the human genome at 5 cM density. | Ghebranious N et al. | β | 2003 | β |
| The distribution of surviving blocks of an ancestral genome. | Baird SJ et al. | β | 2003 | β |
| The DNA sequence and analysis of human chromosome 6. | Mungall AJ et al. | β | 2003 | β |
| The genetics of cross-sectional and longitudinal body mass index. | Strug L et al. | β | 2003 | β |
| The International Psoriasis Genetics Study: assessing linkage to 14 candidate susceptibility loci in a cohort of 942 affected sib pairs. | International Psoriasis Genetics Consortium | β | 2003 | β |
| Absence of age effect on meiotic recombination between human X and Y chromosomes. | Shi Q et al. | β | 2002 | β |
| A demonstration of a 1:1 correspondence between chiasma frequency and recombination using a Lolium perenne/Festuca pratensis substitution. | King J et al. | β | 2002 | β |
| A detailed genetic map of the chromosome 7 bronchial hyper-responsiveness locus. | Leaves NI et al. | β | 2002 | β |
| A high-resolution recombination map of the human genome. | Kong A et al. | β | 2002 | β |
| A human genome diversity cell line panel. | Cann HM et al. | β | 2002 | β |
| A major susceptibility locus for systemic lupus erythemathosus maps to chromosome 1q31. | Johanneson B et al. | β | 2002 | β |
| A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1. | Hart TC et al. | β | 2002 | β |
| Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts. | Barrow LL et al. | β | 2002 | β |
| Ancestral founder of mutation W283X in the porphobilinogen deaminase gene among acute intermittent porphyria patients. | Schneider-Yin X et al. | β | 2002 | β |
| An evaluation of the assembly of an approximately 15-Mb region on human chromosome 13q32-q33 linked to bipolar disorder and schizophrenia. | Christian SL et al. | β | 2002 | β |
| A new susceptibility locus for autosomal dominant pancreatic cancer maps to chromosome 4q32-34. | Eberle MA et al. | β | 2002 | β |
| A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene. | Ferreiro A et al. | β | 2002 | β |
| A susceptibility locus for migraine with aura, on chromosome 4q24. | Wessman M et al. | β | 2002 | β |
| Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32. | Brkanac Z et al. | β | 2002 | β |
| Autosomal genome-wide scan for coronary artery calcification loci in sibships at high risk for hypertension. | Lange LA et al. | β | 2002 | β |
| Characteristics of genetic markers and maps for cost-effective genome screens using diallelic markers. | Goddard KA et al. | β | 2002 | β |
| Conjoined twins in a monozygotic triplet pregnancy: prenatal diagnosis and X-inactivation. | Zeng SM et al. | β | 2002 | β |
| Covariation of synaptonemal complex length and mammalian meiotic exchange rates. | Lynn A et al. | β | 2002 | β |
| Crossover interference in the mouse. | Broman KW et al. | β | 2002 | β |
| Defining the region(s) of deletion at 6q16-q22 in human prostate cancer. | Hyytinen ER et al. | β | 2002 | β |
| Definition of three minimal deleted regions by comprehensive allelotyping and mutational screening of FHIT,p16(INK4A), and p19(ARF) genes in nasopharyngeal carcinoma. | Ko JY et al. | β | 2002 | β |
| EB simplex superficialis resulting from a mutation in the type VII collagen gene. | Martinez-Mir A et al. | β | 2002 | β |
| Endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (edict) syndrome maps to chromosome 15q22.1-q25.3. | Jun AS et al. | β | 2002 | β |
| Enhanced pedigree error detection. | Sun L et al. | β | 2002 | β |
| Evaluating the results of genomewide linkage scans of complex traits by locus counting. | Wiltshire S et al. | β | 2002 | β |
| Evidence for pseudodominant inheritance of atrichia with papular lesions. | Zlotogorski A et al. | β | 2002 | β |
| Excess heterozygosity contributes to genetic map expansion in pea recombinant inbred populations. | Knox MR et al. | β | 2002 | β |
| Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene. | Popovic M et al. | β | 2002 | β |
| Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. | Whittock NV et al. | β | 2002 | β |
| Gene/environment causes of cleft lip and/or palate. | Murray JC | β | 2002 | β |
| Genetic control of mammalian meiotic recombination. I. Variation in exchange frequencies among males from inbred mouse strains. | Koehler KE et al. | β | 2002 | β |
| Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder? | Ng D et al. | β | 2002 | β |
| Genetic linkage of region containing the CREB1 gene to depressive disorders in women from families with recurrent, early-onset, major depression. | Zubenko GS et al. | β | 2002 | β |
| Genomewide linkage analysis of quantitative spirometric phenotypes in severe early-onset chronic obstructive pulmonary disease. | Silverman EK et al. | β | 2002 | β |
| Genomewide linkage disequilibrium mapping of severe bipolar disorder in a population isolate. | Ophoff RA et al. | β | 2002 | β |
| Genome-wide scan for familial nasopharyngeal carcinoma reveals evidence of linkage to chromosome 4. | Feng BJ et al. | β | 2002 | β |
| Genome-wide scans of three independent sets of 90 Irish multiplex schizophrenia families and follow-up of selected regions in all families provides evidence for multiple susceptibility genes. | Straub RE et al. | β | 2002 | β |
| Genomic association/linkage of sodium lithium countertransport in CEPH pedigrees. | Schork NJ et al. | β | 2002 | β |
| Guidelines for the design and analysis of studies on nonsyndromic cleft lip and cleft palate in humans: summary report from a Workshop of the International Consortium for Oral Clefts Genetics. | Mitchell LE et al. | β | 2002 | β |
| High-resolution patterns of meiotic recombination across the human major histocompatibility complex. | Cullen M et al. | β | 2002 | β |
| Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28. | Baala L et al. | β | 2002 | β |
| Human genome sequence variation and the influence of gene history, mutation and recombination. | Reich DE et al. | β | 2002 | β |
| Identification of a region of homozygous deletion on 8p22-23.1 in medulloblastoma. | Yin XL et al. | β | 2002 | β |
| Integrated karyotyping of sorghum by in situ hybridization of landed BACs. | Kim JS et al. | β | 2002 | β |
| Integration of DNA sample collection into a multi-site birth defects case-control study. | Rasmussen SA et al. | β | 2002 | β |
| Loss of heterozygosity in malignant rat schwannomas chemically induced in hybrids of inbred rat strains with differential tumor susceptibility. | Koelsch BU et al. | β | 2002 | β |
| Map error reduction: using genetic and sequence-based physical maps to order closely linked markers. | DeWan AT et al. | β | 2002 | β |
| Meta-analysis of whole-genome linkage scans of bipolar disorder and schizophrenia. | Badner JA et al. | β | 2002 | β |
| Molecular analysis of nondisjunction in mice heterozygous for a Robertsonian translocation. | Underkoffler LA et al. | β | 2002 | β |
| Molecular mechanisms for genomic disorders. | Inoue K et al. | β | 2002 | β |
| Multiple cutaneous and uterine leiomyomas: refinement of the genetic locus for multiple cutaneous and uterine leiomyomas on chromosome 1q42.3-43. | Martinez-Mir A et al. | β | 2002 | β |
| Mutant deoxynucleotide carrier is associated with congenital microcephaly. | Rosenberg MJ et al. | β | 2002 | β |
| Mutation patterns at dinucleotide microsatellite loci in humans. | Huang QY et al. | β | 2002 | β |
| Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. | Demir E et al. | β | 2002 | β |
| Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemia. | Yue P et al. | β | 2002 | β |
| Patterns of meiotic recombination in human fetal oocytes. | Tease C et al. | β | 2002 | β |
| Quantitative trait linkage analysis of lipid-related traits in familial type 2 diabetes: evidence for linkage of triglyceride levels to chromosome 19q. | Elbein SC et al. | β | 2002 | β |
| Quantitative-trait loci influencing body-mass index reside on chromosomes 7 and 13: the National Heart, Lung, and Blood Institute Family Heart Study. | Feitosa MF et al. | β | 2002 | β |
| Quantitative trait loci on chromosomes 1, 2, 3, 4, 8, 9, 11, 12, and 18 control variation in levels of T and B lymphocyte subpopulations. | Hall MA et al. | β | 2002 | β |
| Regional meta-analysis of published data supports linkage of autism with markers on chromosome 7. | Badner JA et al. | β | 2002 | β |
| Role of molecular diagnostics in forensic science. | Linacre A et al. | β | 2002 | β |
| Spline methods for the comparison of physical and genetic maps. | Berloff N et al. | β | 2002 | β |
| Systematic evaluation of map quality: human chromosome 22. | Matise TC et al. | β | 2002 | β |
| Targeted construction of a high-resolution, integrated, comprehensive, and comparative map for a region specific to bovine chromosome 6 based on radiation hybrid mapping. | Weikard R et al. | β | 2002 | β |
| Testing for genetic linkage in families by a variance-components approach in the presence of genomic imprinting. | Shete S et al. | β | 2002 | β |
| The human genome browser at UCSC. | Kent WJ et al. | β | 2002 | β |
| The Iceland map. | Weber JL | β | 2002 | β |
| The map problem: a comparison of genetic and sequence-based physical maps. | DeWan AT et al. | β | 2002 | β |
| Transmission disequilibrium studies of the serotonin 5-HT2A receptor gene (HTR2A) in autism. | Veenstra-VanderWeele J et al. | β | 2002 | β |
| X chromosome effect on maternal recombination and meiotic drive in the mouse. | de La Casa-EsperΓ³n E et al. | β | 2002 | β |
| A comparison of software packages that assess linkage using a variance components approach. | Atkinson EJ et al. | β | 2001 | β |
| A draft annotation and overview of the human genome. | Wright FA et al. | β | 2001 | β |
| A genome screen of families with multiple cases of prostate cancer: evidence of genetic heterogeneity. | Hsieh CL et al. | β | 2001 | β |
| A genome survey indicates a possible susceptibility locus for bipolar disorder on chromosome 22. | Kelsoe JR et al. | β | 2001 | β |
| A genome-wide scan for preeclampsia in the Netherlands. | Lachmeijer AM et al. | β | 2001 | β |
| A genomewide screen for autism susceptibility loci. | Liu J et al. | β | 2001 | β |
| A highly variable segment of human subterminal 16p reveals a history of population growth for modern humans outstide Africa. | Alonso S et al. | β | 2001 | β |
| A high-resolution map of human chromosome 12. | Montgomery KT et al. | β | 2001 | β |
| A joint analysis of asthma affection status and IgE levels in multiple data sets collected for asthma. | Markianos K et al. | β | 2001 | β |
| Allelic frequencies and patterns of single-nucleotide polymorphisms in candidate genes for asthma and atopy in Iceland. | Hakonarson H et al. | β | 2001 | β |
| A major locus for fasting insulin concentrations and insulin resistance on chromosome 6q with strong pleiotropic effects on obesity-related phenotypes in nondiabetic Mexican Americans. | Duggirala R et al. | β | 2001 | β |
| A microsatellite-based genetic linkage map for channel catfish, Ictalurus punctatus. | Waldbieser GC et al. | β | 2001 | β |
| Analysis of epistasis in linked regions in the Irish study of high-density schizophrenia families. | Sullivan PF et al. | β | 2001 | β |
| A new locus for Seckel syndrome on chromosome 18p11.31-q11.2. | BΓΈrglum AD et al. | β | 2001 | β |
| An immune defect causing dominant chronic mucocutaneous candidiasis and thyroid disease maps to chromosome 2p in a single family. | Atkinson TP et al. | β | 2001 | β |
| A novel WT1 gene mutation associated with wilms' tumor and congenital male genitourinary malformation. | Sakamoto J et al. | β | 2001 | β |
| A physical map of the human genome. | McPherson JD et al. | β | 2001 | β |
| A possible susceptibility locus for bipolar affective disorder in chromosomal region 10q25--q26. | Cichon S et al. | β | 2001 | β |
| A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22. | HΓ©on E et al. | β | 2001 | β |
| Assessing linkage of immunoglobulin E using a meta-analysis approach. | Etzel CJ et al. | β | 2001 | β |
| Assessment of parent-of-origin effects in linkage analysis of quantitative traits. | Hanson RL et al. | β | 2001 | β |
| Case of interstitial 12q deletion in association with Wilms tumor. | Rapley EA et al. | β | 2001 | β |
| Clinical and genetic analysis of a family with X-linked congenital nystagmus (NYS1). | Kerrison JB et al. | β | 2001 | β |
| Clustering of pedigrees using marker allele frequencies: impact on linkage analysis. | Grigull J et al. | β | 2001 | β |
| Comparison of human genetic and sequence-based physical maps. | Yu A et al. | β | 2001 | β |
| De novo terminal deletion of chromosome 15q26.1 characterised by comparative genomic hybridisation and FISH with locus specific probes. | TΓΆnnies H et al. | β | 2001 | β |
| DFNA25, a novel locus for dominant nonsyndromic hereditary hearing impairment, maps to 12q21-24. | Greene CC et al. | β | 2001 | β |
| Evaluation of linkage and association of HPC2/ELAC2 in patients with familial or sporadic prostate cancer. | Xu J et al. | β | 2001 | β |
| Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder. | Fernandez M et al. | β | 2001 | β |
| Fine mapping of a gene responsible for regulating dietary cholesterol absorption; founder effects underlie cases of phytosterolaemia in multiple communities. | Lee MH et al. | β | 2001 | β |
| Further evidence for linkage of Gilles de la Tourette syndrome (GTS) susceptibility loci on chromosomes 2p11, 8q22 and 11q23-24 in South African Afrikaners. | Simonic I et al. | β | 2001 | β |
| Genetic and clinical heterogeneity in transgressive palmoplantar keratoderma. | Lestringant GG et al. | β | 2001 | β |
| Genetic and physical mapping of the locus for autosomal dominant renal Fanconi syndrome, on chromosome 15q15.3. | Lichter-Konecki U et al. | β | 2001 | β |
| Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree. | Kitsos G et al. | β | 2001 | β |
| Genome scan for quantitative trait loci linked to high-density lipoprotein cholesterol: The NHLBI Family Heart Study. | Peacock JM et al. | β | 2001 | β |
| Genome screening for linkage disequilibrium in a Costa Rican sample of patients with bipolar-I disorder: a follow-up study on chromosome 18. | Escamilla MA et al. | β | 2001 | β |
| Genome-wide linkage analysis reveals evidence of multiple regions that influence variation in plasma lipid and apolipoprotein levels associated with risk of coronary heart disease. | Klos KL et al. | β | 2001 | β |
| Genome-wide variation in the human and fruitfly: a comparison. | Aquadro CF et al. | β | 2001 | β |
| Genotyping for human whole-genome scans: past, present, and future. | Weber JL et al. | β | 2001 | β |
| Haplotype analysis in determination of the heredity of erythropoietic protoporphyria among Swiss families. | Schneider-Yin X et al. | β | 2001 | β |
| Hereditary benign chorea: clinical and genetic features of a distinct disease. | Fernandez M et al. | β | 2001 | β |
| Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3. | Ophoff RA et al. | β | 2001 | β |
| High-density allelotype of the commonly studied gastric cancer cell lines. | Zheng YL et al. | β | 2001 | β |
| High rates of loss of heterozygosity on chromosome 19p13 in human breast cancer. | Oesterreich S et al. | β | 2001 | β |
| High throughput genotyping technologies for pharmacogenomics. | Brennan MD | β | 2001 | β |
| Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder. | Vaughan CJ et al. | β | 2001 | β |
| Improved evidence for linkage on 6p and 5p with retrospective pooling of data from three asthma genome screens. | Iyengar SK et al. | β | 2001 | β |
| Incorporation of molecular data and redefinition of phenotype: new approaches to genetic epidemiology of bipolar manic depressive illness and schizophrenia. | Gershon ES et al. | β | 2001 | β |
| Inflammatory bowel disease. II. Gene mapping. | Taylor KD et al. | β | 2001 | β |
| Initial sequencing and analysis of the human genome. | Lander ES et al. | β | 2001 | β |
| Linkage and association of CYP17 gene in hereditary and sporadic prostate cancer. | Chang B et al. | β | 2001 | β |
| Linkage and association studies of prostate cancer susceptibility: evidence for linkage at 8p22-23. | Xu J et al. | β | 2001 | β |
| Linkage disequilibrium between microsatellite markers extends beyond 1 cM on chromosome 20 in Finns. | Mohlke KL et al. | β | 2001 | β |
| Linkage disequilibrium in the human genome. | Reich DE et al. | β | 2001 | β |
| Localization of a susceptibility gene for familial nonmedullary thyroid carcinoma to chromosome 2q21. | McKay JD et al. | β | 2001 | β |
| Local rates of recombination are positively correlated with GC content in the human genome. | Fullerton SM et al. | β | 2001 | β |
| Loss of heterozygosity analysis defines a 3-cM region of 15q commonly deleted in human malignant mesothelioma. | De Rienzo A et al. | β | 2001 | β |
| Matroshka and ectopic polymorphisms: Two new classes of DNA sequence variation identified at the Van der Woude syndrome locus on 1q32-q41. | Watanabe Y et al. | β | 2001 | β |
| Meiotic recombination hot spots and cold spots. | Petes TD | β | 2001 | β |
| Model-free linkage analysis with covariates confirms linkage of prostate cancer to chromosomes 1 and 4. | Goddard KA et al. | β | 2001 | β |
| Molecular characterisation of a proximal chromosome 18q deletion. | McEntagart M et al. | β | 2001 | β |
| Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma. | Genuardi M et al. | β | 2001 | β |
| Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome. | Martignetti JA et al. | β | 2001 | β |
| Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. | Levy GG et al. | β | 2001 | β |
| Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29. | Wilcox ER et al. | β | 2001 | β |
| Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. | Ahmed ZM et al. | β | 2001 | β |
| Pooling data and linkage analysis in the chromosome 5q candidate region for asthma. | Jacobs KB et al. | β | 2001 | β |
| Potential mapping of corneal dermoids to Xq24-qter. | Dar P et al. | β | 2001 | β |
| Quantitative-trait-locus analysis of body-mass index and of stature, by combined analysis of genome scans of five Finnish study groups. | Perola M et al. | β | 2001 | β |
| Searching for candidate genes in the new millennium. | Bleck O et al. | β | 2001 | β |
| Sex- and age-of-onset-based locus heterogeneity in asthma. | Srivastava A et al. | β | 2001 | β |
| Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. | Goobie S et al. | β | 2001 | β |
| The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes. | Inoue K et al. | β | 2001 | β |
| The sequence of the human genome. | Venter JC et al. | β | 2001 | β |
| A distinct gene close to the hairless locus on chromosome 8p underlies hereditary Marie Unna type hypotrichosis in a German family. | Cichon S et al. | β | 2000 | β |
| A family with PROMM not linked to the recently mapped PROMM locus DM2. | Wieser T et al. | β | 2000 | β |
| Age and origin of the FCMD 3'-untranslated-region retrotransposal insertion mutation causing Fukuyama-type congenital muscular dystrophy in the Japanese population. | Colombo R et al. | β | 2000 | β |
| Age and sex based genetic locus heterogeneity in type 1 diabetes. | Paterson AD et al. | β | 2000 | β |
| A gene for an autosomal dominant scleroatrophic syndrome predisposing to skin cancer (Huriez syndrome) maps to chromosome 4q23. | Lee YA et al. | β | 2000 | β |
| A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3. | Betz RC et al. | β | 2000 | β |
| A genome screen of multiplex sibships with prostate cancer. | Suarez BK et al. | β | 2000 | β |
| A genomic scan of families with prostate cancer identifies multiple regions of interest. | Gibbs M et al. | β | 2000 | β |
| A high-density genetic map of the chromosome 13q14 atopy locus. | Bhattacharyya S et al. | β | 2000 | β |
| Analysis of parental-origin effects in linkage data. | Paterson AD | β | 2000 | β |
| A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred. | Salam AA et al. | β | 2000 | β |
| A novel locus (DFNA24) for prelingual nonprogressive autosomal dominant nonsyndromic hearing loss maps to 4q35-qter in a large Swiss German kindred. | HΓ€fner FM et al. | β | 2000 | β |
| Bias in multipoint linkage analysis arising from map misspecification. | Daw EW et al. | β | 2000 | β |
| Cervical cancer suppressor gene is within 1 cM on 6p23. | Rader JS et al. | β | 2000 | β |
| Characterization of human crossover interference. | Broman KW et al. | β | 2000 | β |
| Characterization of the human TBX20 gene, a new member of the T-Box gene family closely related to the Drosophila H15 gene. | Meins M et al. | β | 2000 | β |
| Comparative maps of human 19p13.3 and mouse chromosome 10 allow identification of sequences at evolutionary breakpoints. | Puttagunta R et al. | β | 2000 | β |
| Confirmation of the assignment of the Sanjad-Sakati (congenital hypoparathyroidism) syndrome (OMIM 241410) locus to chromosome lq42-43. | Kelly TE et al. | β | 2000 | β |
| Consistent long-range linkage disequilibrium generated by admixture in a Bantu-Semitic hybrid population. | Wilson JF et al. | β | 2000 | β |
| Evidence for heterogeneity in recombination in the human pseudoautosomal region: high resolution analysis by sperm typing and radiation-hybrid mapping. | Lien S et al. | β | 2000 | β |
| Evidence of linkage of familial hypoalphalipoproteinemia to a novel locus on chromosome 11q23. | Kort EN et al. | β | 2000 | β |
| Expression-based genetic/physical maps of single-nucleotide polymorphisms identified by the cancer genome anatomy project. | Clifford R et al. | β | 2000 | β |
| Family-based association studies. | Zhao H | β | 2000 | β |
| Fine mapping of PPH1, a gene for familial primary pulmonary hypertension, to a 3-cM region on chromosome 2q33. | Deng Z et al. | β | 2000 | β |
| Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. | Horikawa Y et al. | β | 2000 | β |
| Genomewide scan for prostate cancer-aggressiveness loci. | Witte JS et al. | β | 2000 | β |
| GT repeats are associated with recombination on human chromosome 22. | Majewski J et al. | β | 2000 | β |
| High-density genome scan in Crohn disease shows confirmed linkage to chromosome 14q11-12. | Duerr RH et al. | β | 2000 | β |
| Hitchhiking under positive Darwinian selection. | Fay JC et al. | β | 2000 | β |
| Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q. | El-Shanti H et al. | β | 2000 | β |
| Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene. | Omran H et al. | β | 2000 | β |
| Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree. | Omran H et al. | β | 2000 | β |
| Improved inference of relationship for pairs of individuals. | Epstein MP et al. | β | 2000 | β |
| Integration of genetic maps by polynomial transformations. | Stassen HH et al. | β | 2000 | β |
| Linkage analysis in the presence of errors III: marker loci and their map as nuisance parameters. | GΓΆring HH et al. | β | 2000 | β |
| Linkage and family-based association study of schizophrenia and the synapsin III locus that maps to chromosome 22q13. | StΓΆber G et al. | β | 2000 | β |
| Lisch corneal dystrophy is genetically distinct from Meesmann corneal dystrophy and maps to xp22.3. | Lisch W et al. | β | 2000 | β |
| Localization of a gene for syndactyly type 1 to chromosome 2q34-q36. | Bosse K et al. | β | 2000 | β |
| Localization to Xq27 of a susceptibility gene for testicular germ-cell tumours. | Rapley EA et al. | β | 2000 | β |
| Mapping of a gene for severe pediatric gastroesophageal reflux to chromosome 13q14. | Hu FZ et al. | β | 2000 | β |
| Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation. | Herman-Bert A et al. | β | 2000 | β |
| Multipoint linkage analysis of the pseudoautosomal regions, using affected sibling pairs. | Dupuis J et al. | β | 2000 | β |
| Mutations in the protein kinase A R1alpha regulatory subunit cause familial cardiac myxomas and Carney complex. | Casey M et al. | β | 2000 | β |
| No evidence of linkage to chromosome 1q42.2-43 in 131 prostate cancer families from the ACTANE consortium. Anglo, Canada, Texas, Australia, Norway, EU Biomed. | Singh R et al. | β | 2000 | β |
| Nondisjunction in trisomy 21: origin and mechanisms. | Petersen MB et al. | β | 2000 | β |
| Patterns of meiotic recombination on the long arm of human chromosome 21. | Lynn A et al. | β | 2000 | β |
| Polymorphic markers for the arylsulfatase A gene reveal a greatly expanded meiotic map for the human 22q telomeric region. | Brennan MD et al. | β | 2000 | β |
| Potential panic disorder syndrome: clinical and genetic linkage evidence. | Weissman MM et al. | β | 2000 | β |
| Significant evidence for linkage disequilibrium over a 5-cM region among Afrikaners. | Gordon D et al. | β | 2000 | β |
| Single nucleotide polymorphisms and the future of genetic epidemiology. | Schork NJ et al. | β | 2000 | β |
| Statistical tests for detection of misspecified relationships by use of genome-screen data. | McPeek MS et al. | β | 2000 | β |
| Studies of genetic defects in hepatocellular carcinoma: recent outcomes and new challenges. | Pineau P et al. | β | 2000 | β |
| The Finland-United States investigation of non-insulin-dependent diabetes mellitus genetics (FUSION) study. I. An autosomal genome scan for genes that predispose to type 2 diabetes. | Ghosh S et al. | β | 2000 | β |
| The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1. | Martignetti JA et al. | β | 2000 | β |
| The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21. | Whittock NV et al. | β | 2000 | β |
| Two translocations of chromosome 15q associated with dyslexia. | Nopola-Hemmi J et al. | β | 2000 | β |
| Advances in the molecular genetics of congenital structural heart disease. | Mah CS et al. | β | 1999 | β |
| A genome-wide scan reveals a maternal susceptibility locus for pre-eclampsia on chromosome 2p13. | ArngrΓmsson R et al. | β | 1999 | β |
| A locus for febrile seizures (FEB3) maps to chromosome 2q23-24. | Peiffer A et al. | β | 1999 | β |
| Analphoid marker chromosome in a patient with hyper-IgE syndrome, autism, and mild mental retardation. | Grimbacher B et al. | β | 1999 | β |
| A scan for linkage disequilibrium across the human genome. | Huttley GA et al. | β | 1999 | β |
| A second-generation genetic linkage map of the domestic dog, Canis familiaris. | Neff MW et al. | β | 1999 | β |
| Characterization of physical gap sizes at human telomeres. | Lese CM et al. | β | 1999 | β |
| Chromosome 13 workshop report. | Barden N et al. | β | 1999 | β |
| Cleaning genotype data. | Broman KW | β | 1999 | β |
| Dominant hereditary inclusion-body myopathy gene (IBM3) maps to chromosome region 17p13.1. | Martinsson T et al. | β | 1999 | β |
| Further evidence for a susceptibility locus on chromosome 20q13.11 in families with dominant transmission of Graves disease. | Pearce SH et al. | β | 1999 | β |
| Genetic and physical analyses of the centromeric and pericentromeric regions of human chromosome 5: recombination across 5cen. | Puechberty J et al. | β | 1999 | β |
| Genetic linkage of hyper-IgE syndrome to chromosome 4. | Grimbacher B et al. | β | 1999 | β |
| Homozygosity mapping of the Achromatopsia locus in the Pingelapese. | Winick JD et al. | β | 1999 | β |
| Localization of the thiamine-responsive megaloblastic anemia syndrome locus to a 1.4-cM region of 1q23. | Banikazemi M et al. | β | 1999 | β |
| Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11. | Richter A et al. | β | 1999 | β |
| Locus heterogeneity of autosomal dominant osteopetrosis (ADO). | White KE et al. | β | 1999 | β |
| Long homozygous chromosomal segments in reference families from the centre d'Etude du polymorphisme humain. | Broman KW et al. | β | 1999 | β |
| Method for constructing confidently ordered linkage maps. | Broman KW et al. | β | 1999 | β |
| Mining SNPs from EST databases. | Picoult-Newberg L et al. | β | 1999 | β |
| Monte Carlo Markov chain methods for genome screening. | Daw EW et al. | β | 1999 | β |
| Prostate cancer susceptibility locus HPC1 in Utah high-risk pedigrees. | Neuhausen SL et al. | β | 1999 | β |
| Spatial and temporal distribution of the neutral polymorphisms in the last ZFX intron: analysis of the haplotype structure and genealogy. | Jaruzelska J et al. | β | 1999 | β |
| The analysis of parental origin of alleles may detect susceptibility loci for complex disorders. | Paterson AD et al. | β | 1999 | β |
| Transmission ratio distortion in females on chromosome 10p11-p15. | Paterson AD et al. | β | 1999 | β |
| Estimation of pairwise relationships in the presence of genotyping errors. | Broman KW et al. | β | 1998 | β |
| Identification of genetic markers associated with Gilles de la Tourette syndrome in an Afrikaner population. | Simonic I et al. | β | 1998 | β |