PedCheck: a program for identification of genotype incompatibilities in linkage analysis.
paper
Cited
Public
Unavailable
- Authors
- O'Connell, J R; Weeks, D E
- Year
- 1998
- Journal
- American journal of human genetics
- PMID
- 9634505
- DOI
- 10.1086/301904
- PMCID
- PMC1377228
Prior to performance of linkage analysis, elimination of all Mendelian inconsistencies in the pedigree data is essential. Often, identification of erroneous genotypes by visual inspection can be very difficult and time consuming. In fact, sometimes the errors are not recognized until the stage of running linkage-analysis software. The effort then required to find the erroneous genotypes and to cross-reference pedigree and marker data that may have been recoded and renumbered can be not only tedious but also quite daunting, in the case of very large pedigrees. We have implemented four error-checking algorithms in a new computer program, PedCheck, which will assist researchers in identifying all Mendelian inconsistencies in pedigree data and will provide them with useful and detailed diagnostic information to help resolve the errors. Our program, which uses many of the algorithms implemented in VITESSE, handles large data sets quickly and efficiently, accepts a variety of input formats, and offers various error-checking algorithms that match the subtlety of the pedigree error. These algorithms range from simple parent-offspring-compatibility checks to a single-locus likelihood-based statistic that identifies and ranks the individuals most likely to be in error. We use various real data sets to illustrate the power and effectiveness of our program.
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| Quantitative linkage for autism spectrum disorders symptoms in attention-deficit/hyperactivity disorder: significant locus on chromosome 7q11. | Nijmeijer JS et al. | β | 2014 | β |
| SIBLING family genes and bone mineral density: association and allele-specific expression in humans. | Alam I et al. | β | 2014 | β |
| The GLO1 C332 (Ala111) allele confers autism vulnerability: family-based genetic association and functional correlates. | Gabriele S et al. | β | 2014 | β |
| The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation. | Schreml J et al. | β | 2014 | β |
| Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons. | Klein CJ et al. | β | 2014 | β |
| Using familial information for variant filtering in high-throughput sequencing studies. | Bahlo M et al. | β | 2014 | β |
| Using Mendelian inheritance to improve high-throughput SNP discovery. | Chen N et al. | β | 2014 | β |
| Value of Mendelian laws of segregation in families: data quality control, imputation, and beyond. | Blue EM et al. | β | 2014 | β |
| Variation in genes that regulate blood pressure are associated with glomerular filtration rate in Chinese. | Montasser ME et al. | β | 2014 | β |
| A defect of CD16-positive monocytes can occur without disease. | Frankenberger M et al. | β | 2013 | β |
| A de novo mutation in KIT causes white spotting in a subpopulation of German Shepherd dogs. | Wong AK et al. | β | 2013 | β |
| A genome-wide search for type 2 diabetes susceptibility genes in an extended Arab family. | Al Safar HS et al. | β | 2013 | β |
| A large-scale candidate gene analysis of mood disorders: evidence of neurotrophic tyrosine kinase receptor and opioid receptor signaling dysfunction. | Deo AJ et al. | β | 2013 | β |
| Alterations in phosphorylated cAMP response element-binding protein (pCREB) signaling: an endophenotype of lithium-responsive bipolar disorder? | Alda M et al. | β | 2013 | β |
| A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype. | Hauke J et al. | β | 2013 | β |
| A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q. | Kamenarova K et al. | β | 2013 | β |
| A novel syndrome of abnormal striatum and congenital cataract: evidence for linkage to chromosomes 11. | Al-Owain M et al. | β | 2013 | β |
| Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR, and PPFIA2. | Hawthorne F et al. | β | 2013 | β |
| Association study between genes in Reelin signaling pathway and autism identifies DAB1 as a susceptibility gene in a Chinese Han population. | Li J et al. | β | 2013 | β |
| Association study of 167 candidate genes for schizophrenia selected by a multi-domain evidence-based prioritization algorithm and neurodevelopmental hypothesis. | Zhao Z et al. | β | 2013 | β |
| Boston type craniosynostosis: report of a second mutation in MSX2. | Florisson JM et al. | β | 2013 | β |
| Clinical and biochemical features associated with BCS1L mutation. | Al-Owain M et al. | β | 2013 | β |
| Estimating single nucleotide polymorphism associations using pedigree data: applications to breast cancer. | Barnes DR et al. | β | 2013 | β |
| Estimating the contributions of rare and common genetic variations and clinical measures to a model trait: adiponectin. | An SS et al. | β | 2013 | β |
| Evidence for novel genetic loci associated with metabolic traits in Yup'ik people. | Aslibekyan S et al. | β | 2013 | β |
| Family-based association analysis of alcohol dependence implicates KIAA0040 on Chromosome 1q in multiplex alcohol dependence families. | Hill SY et al. | β | 2013 | β |
| Five linkage regions each harbor multiple type 2 diabetes genes in the African American subset of the GENNID Study. | Hasstedt SJ et al. | β | 2013 | β |
| Folate-related gene variants in Irish families affected by neural tube defects. | Fisk Green R et al. | β | 2013 | β |
| Genetic analysis of adiponectin variation and its association with type 2 diabetes in African Americans. | Sandy An S et al. | β | 2013 | β |
| Genetic association analyses of nitric oxide synthase genes and neural tube defects vary by phenotype. | Soldano KL et al. | β | 2013 | β |
| Genetic determinants of idiopathic noncirrhotic portal hypertension in HIV-infected patients. | Vispo E et al. | β | 2013 | β |
| Genetic loss of SH2B3 in acute lymphoblastic leukemia. | Perez-Garcia A et al. | β | 2013 | β |
| Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese. | He J et al. | β | 2013 | β |
| Genome-wide association study of personality traits in the long life family study. | Bae HT et al. | β | 2013 | β |
| Genome-wide linkage analyses of 12 endophenotypes for schizophrenia from the Consortium on the Genetics of Schizophrenia. | Greenwood TA et al. | β | 2013 | β |
| Genome-wide linkage analysis of congenital heart defects using MOD score analysis identifies two novel loci. | Flaquer A et al. | β | 2013 | β |
| Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population. | Gerull B et al. | β | 2013 | β |
| Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. | Eisenberger T et al. | β | 2013 | β |
| Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure. | Beetz C et al. | β | 2013 | β |
| KCNIP4 as a candidate gene for personality disorders and adult ADHD. | WeiΓflog L et al. | β | 2013 | β |
| Linkage analysis in familial non-Lynch syndrome colorectal cancer families from Sweden. | Kontham V et al. | β | 2013 | β |
| Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss. | Girotto G et al. | β | 2013 | β |
| Mutations in the autoregulatory domain of Ξ²-tubulin 4a cause hereditary dystonia. | Hersheson J et al. | β | 2013 | β |
| New insights into the genetic mechanism of IQ in autism spectrum disorders. | Wang HZ et al. | β | 2013 | β |
| Obesity polymorphisms identified in genome-wide association studies interact with n-3 polyunsaturated fatty acid intake and modify the genetic association with adiposity phenotypes in Yup'ik people. | Lemas DJ et al. | β | 2013 | β |
| Ordered subset linkage analysis based on admixture proportion identifies new linkage evidence for alcohol dependence in African-Americans. | Han S et al. | β | 2013 | β |
| Polymorphisms in the fetal progesterone receptor and a calcium-activated potassium channel isoform are associated with preterm birth in an Argentinian population. | Mann PC et al. | β | 2013 | β |
| Polymorphisms in the SOCS7 gene and glucose homeostasis traits. | Capuano MM et al. | β | 2013 | β |
| Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 gene. | Said MB et al. | β | 2013 | β |
| Quantitative trait locus linkage analysis in a large Amish pedigree identifies novel candidate loci for erythrocyte traits. | Hinckley JD et al. | β | 2013 | β |
| Rare coding variants of the adenosine A3 receptor are increased in autism: on the trail of the serotonin transporter regulome. | Campbell NG et al. | β | 2013 | β |
| Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. | BΓΆgershausen N et al. | β | 2013 | β |
| Refinement of chromosome 3p22.3 region and identification of a susceptibility gene for bipolar affective disorder. | Secolin R et al. | β | 2013 | β |
| Replication of European rheumatoid arthritis loci in a Pakistani population. | Jalil SF et al. | β | 2013 | β |
| Single nucleotide polymorphism rs3732860 in the 3'-untranslated region of CYP8B1 gene is associated with gallstone disease in Han Chinese. | Qin J et al. | β | 2013 | β |
| SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15). | Kim HJ et al. | β | 2013 | β |
| The association between DRD2/ANKK1 and genetically informed measures of alcohol use and problems. | Meyers JL et al. | β | 2013 | β |
| The evidence for association of ATP2B2 polymorphisms with autism in Chinese Han population. | Yang W et al. | β | 2013 | β |
| Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia. | Motazacker MM et al. | β | 2012 | β |
| A family-based association study identified CYP17 as a candidate gene for obesity susceptibility in Caucasians. | Yan H et al. | β | 2012 | β |
| A family-based association study of DIO2 and children mental retardation in the Qinba region of China. | Zhang K et al. | β | 2012 | β |
| A genome-wide association search for type 2 diabetes genes in African Americans. | Palmer ND et al. | β | 2012 | β |
| A Locus Identified on Chromosome18P11.31 is Associated with Hippocampal Abnormalities in a Family with Mesial Temporal Lobe Epilepsy. | Maurer-Morelli CV et al. | β | 2012 | β |
| A microsatellite linkage map of striped bass (Morone saxatilis) reveals conserved synteny with the three-spined stickleback (Gasterosteus aculeatus). | Liu S et al. | β | 2012 | β |
| An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group. | Borck G et al. | β | 2012 | β |
| Analysis of detailed phenotype profiles reveals CHRNA5-CHRNA3-CHRNB4 gene cluster association with several nicotine dependence traits. | Broms U et al. | β | 2012 | β |
| An international collaborative family-based whole genome quantitative trait linkage scan for myopic refractive error. | Abbott D et al. | β | 2012 | β |
| A novel autosomal dominant inclusion body myopathy linked to 7q22.1-31.1. | Lu Y et al. | β | 2012 | β |
| A novel chondroectodermal dysplasia mapped to chromosome 2q24.1-q31.1. | Khan B et al. | β | 2012 | β |
| A novel decorin gene mutation in congenital hereditary stromal dystrophy: a Korean family. | Lee JH et al. | β | 2012 | β |
| A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation. | Khan S et al. | β | 2012 | β |
| A population-based study of autosomal-recessive disease-causing mutations in a founder population. | Chong JX et al. | β | 2012 | β |
| A potential novel spontaneous preterm birth gene, AR, identified by linkage and association analysis of X chromosomal markers. | Karjalainen MK et al. | β | 2012 | β |
| A second generation integrated map of the rainbow trout (Oncorhynchus mykiss) genome: analysis of conserved synteny with model fish genomes. | Palti Y et al. | β | 2012 | β |
| Association and expression quantitative trait loci (eQTL) analysis of porcine AMBP, GC and PPP1R3B genes with meat quality traits. | Cinar MU et al. | β | 2012 | β |
| Association between ADIPOQ SNPs with plasma adiponectin and glucose homeostasis and adiposity phenotypes in the IRAS Family Study. | An SS et al. | β | 2012 | β |
| Association of IREB2 and CHRNA3 polymorphisms with airflow obstruction in severe alpha-1 antitrypsin deficiency. | Kim WJ et al. | β | 2012 | β |
| Associations between nitric oxide synthase genes and exhaled NO-related phenotypes according to asthma status. | Bouzigon E et al. | β | 2012 | β |
| ASTN1 and alcohol dependence: family-based association analysis in multiplex alcohol dependence families. | Hill SY et al. | β | 2012 | β |
| Autosomal linkage scan for loci predisposing to comorbid dependence on multiple substances. | Yang BZ et al. | β | 2012 | β |
| Chromosome 1p36 in migraine with aura: association study of the 5HT(1D) locus. | Thompson MD et al. | β | 2012 | β |
| Chromosome 20 shows linkage with DSM-IV nicotine dependence in Finnish adult smokers. | Keskitalo-Vuokko K et al. | β | 2012 | β |
| Colorectal cancer linkage on chromosomes 4q21, 8q13, 12q24, and 15q22. | Cicek MS et al. | β | 2012 | β |
| Comprehensive genomic analyses associate UGT8 variants with musical ability in a Mongolian population. | Park H et al. | β | 2012 | β |
| Confirmation that Xq27 and Xq28 are susceptibility loci for migraine in independent pedigrees and a case-control cohort. | Maher BH et al. | β | 2012 | β |
| Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease. | WΓΌrde AE et al. | β | 2012 | β |
| Congruence as a measurement of extended haplotype structure across the genome. | Baschal EE et al. | β | 2012 | β |
| Detecting pedigree relationship errors. | Sun L | β | 2012 | β |
| Differential coexpression analysis of obesity-associated networks in human subcutaneous adipose tissue. | Walley AJ et al. | β | 2012 | β |
| Efficient genotype elimination via adaptive allele consolidation. | De Francesco N et al. | β | 2012 | β |
| Event-related oscillations to affective stimuli: heritability, linkage and relationship to externalizing disorders. | Criado JR et al. | β | 2012 | β |
| Evidence for two independent associations with type 1 diabetes at the 12q13 locus. | Keene KL et al. | β | 2012 | β |
| Extended kindred with recessive late-onset Alzheimer disease maps to locus 8p22-p21.2: a genome-wide linkage analysis. | Baron M et al. | β | 2012 | β |
| Extensive natural variation for cellular hydrogen peroxide release is genetically controlled. | Attar H et al. | β | 2012 | β |
| Familial identification: population structure and relationship distinguishability. | Rohlfs RV et al. | β | 2012 | β |
| Family-based genome-wide association study of frontal ΞΈ oscillations identifies potassium channel gene KCNJ6. | Kang SJ et al. | β | 2012 | β |
| Genetic and environmental factors influencing the Placental Growth Factor (PGF) variation in two populations. | Sorice R et al. | β | 2012 | β |
| Genetic associations between neuregulin-1 SNPs and neurocognitive function in multigenerational, multiplex schizophrenia families. | Yokley JL et al. | β | 2012 | β |
| Genetic mapping of an autosomal recessive postaxial polydactyly type A to chromosome 13q13.3-q21.2 and screening of the candidate genes. | Umm-e-Kalsoom et al. | β | 2012 | β |
| Genetic polymorphisms in carnitine palmitoyltransferase 1A gene are associated with variation in body composition and fasting lipid traits in Yup'ik Eskimos. | Lemas DJ et al. | β | 2012 | β |
| Genetic risk factors for thrombosis in systemic lupus erythematosus. | Kaiser R et al. | β | 2012 | β |
| Genetic susceptibility to dental caries on pit and fissure and smooth surfaces. | Shaffer JR et al. | β | 2012 | β |
| Genome-wide association study identifies candidate genes for male fertility traits in humans. | Kosova G et al. | β | 2012 | β |
| Genome-wide linkage analysis of 972 bipolar pedigrees using single-nucleotide polymorphisms. | Badner JA et al. | β | 2012 | β |
| Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele. | Radhakrishna U et al. | β | 2012 | β |
| Genome-wide linkage and positional association study of blood pressure response to dietary sodium intervention: the GenSalt Study. | Mei H et al. | β | 2012 | β |
| Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies. | EPICURE Consortium et al. | β | 2012 | β |
| Genome-wide linkage scan of antisocial behavior, depression, and impulsive substance use in the UCSF family alcoholism study. | Gizer IR et al. | β | 2012 | β |
| Identification of genotype errors. | Shugart YY et al. | β | 2012 | β |
| Implication of European-derived adiposity loci in African Americans. | Hester JM et al. | β | 2012 | β |
| Intra-familial tests of association between familial idiopathic scoliosis and linked regions on 9q31.3-q34.3 and 16p12.3-q22.2. | Miller NH et al. | β | 2012 | β |
| Investigating ANKH and ENPP1 in Slovakian families with chondrocalcinosis. | Couto AR et al. | β | 2012 | β |
| Linkage analysis followed by association show NRG1 associated with cannabis dependence in African Americans. | Han S et al. | β | 2012 | β |
| Motor sequencing deficit as an endophenotype of speech sound disorder: a genome-wide linkage analysis in a multigenerational family. | Peter B et al. | β | 2012 | β |
| Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. | Baumann M et al. | β | 2012 | β |
| Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss. | Lee K et al. | β | 2012 | β |
| Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy. | Krabichler B et al. | β | 2012 | β |
| Potential association of vitamin D receptor polymorphism Taq1 with multiple sclerosis. | Cox MB et al. | β | 2012 | β |
| PPP2R2C as a candidate gene of a temperament and character trait-based endophenotype of ADHD. | Jacob C et al. | β | 2012 | β |
| Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. | Olbrich H et al. | β | 2012 | β |
| Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering. | Markello TC et al. | β | 2012 | β |
| RNA-Seq identifies SNP markers for growth traits in rainbow trout. | Salem M et al. | β | 2012 | β |
| Shared loci for migraine and epilepsy on chromosomes 14q12-q23 and 12q24.2-q24.3. | Polvi A et al. | β | 2012 | β |
| Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3. | Eisenberger T et al. | β | 2012 | β |
| TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. | Boileau C et al. | β | 2012 | β |
| The aromatase gene CYP19A1: several genetic and functional lines of evidence supporting a role in reading, speech and language. | Anthoni H et al. | β | 2012 | β |
| The dopamine receptor D4 7-repeat allele influences neurocognitive functioning, but this effect is moderated by age and ADHD status: an exploratory study. | Altink ME et al. | β | 2012 | β |
| The role of inflammatory pathway genetic variation on maternal metabolic phenotypes during pregnancy. | Urbanek M et al. | β | 2012 | β |
| The role of the kallikrein-kinin system genes in the salt sensitivity of blood pressure: the GenSalt Study. | Gu D et al. | β | 2012 | β |
| Wound healing genes and susceptibility to cutaneous leishmaniasis in Brazil. | Castellucci L et al. | β | 2012 | β |
| 4-aminobutyrate aminotransferase (ABAT): genetic and pharmacological evidence for an involvement in gastro esophageal reflux disease. | Jirholt J et al. | β | 2011 | β |
| 8q24.3 and 11q25 chromosomal loci association with low HDL-C in metabolic syndrome. | Daneshpour MS et al. | β | 2011 | β |
| A complete deficiency of Hyaluronoglucosaminidase 1 (HYAL1) presenting as familial juvenile idiopathic arthritis. | Imundo L et al. | β | 2011 | β |
| Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. | Abou Jamra R et al. | β | 2011 | β |
| A first generation integrated map of the rainbow trout genome. | Palti Y et al. | β | 2011 | β |
| A genomewide linkage scan of cocaine dependence and major depressive episode in two populations. | Yang BZ et al. | β | 2011 | β |
| A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13. | Ansar M et al. | β | 2011 | β |
| A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families. | Lee K et al. | β | 2011 | β |
| A novel, functional and replicable risk gene region for alcohol dependence identified by genome-wide association study. | Zuo L et al. | β | 2011 | β |
| Association of ABCA4 and MAFB with non-syndromic cleft lip with or without cleft palate. | Yuan Q et al. | β | 2011 | β |
| Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects. | McBride KL et al. | β | 2011 | β |
| Association of PNPLA3 with non-alcoholic fatty liver disease in a minority cohort: the Insulin Resistance Atherosclerosis Family Study. | Wagenknecht LE et al. | β | 2011 | β |
| Association of the arginine vasopressin receptor 1A (AVPR1A) haplotypes with listening to music. | Ukkola-Vuoti L et al. | β | 2011 | β |
| Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene. | Arnett J et al. | β | 2011 | β |
| Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene. | Lee K et al. | β | 2011 | β |
| Candidate genes for COPD in two large data sets. | Bakke PS et al. | β | 2011 | β |
| Comprehensive family-based association study of the glutamate transporter gene SLC1A1 in obsessive-compulsive disorder. | Samuels J et al. | β | 2011 | β |
| Comprehensive gene-based association study of a chromosome 20 linked region implicates novel risk loci for depressive symptoms in psychotic illness. | Bigdeli TB et al. | β | 2011 | β |
| Detection of quantitative trait loci affecting serum cholesterol, LDL, HDL, and triglyceride in pigs. | Uddin MJ et al. | β | 2011 | β |
| DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2. | Basit S et al. | β | 2011 | β |
| Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees. | Basit S et al. | β | 2011 | β |
| DIRAS2 is associated with adult ADHD, related traits, and co-morbid disorders. | Reif A et al. | β | 2011 | β |
| Efficient parentage assignment and pedigree reconstruction with dense single nucleotide polymorphism data. | Hayes BJ | β | 2011 | β |
| Enhanced genetic maps from family-based disease studies: population-specific comparisons. | He C et al. | β | 2011 | β |
| Epistasis between neurochemical gene polymorphisms and risk for ADHD. | Segurado R et al. | β | 2011 | β |
| Evaluation of 15 functional candidate genes for association with chronic otitis media with effusion and/or recurrent otitis media (COME/ROM). | Sale MM et al. | β | 2011 | β |
| Evidence for association between Disrupted-in-Schizophrenia 1 (DISC1) gene polymorphisms and autism in Chinese Han population: a family-based association study. | Zheng F et al. | β | 2011 | β |
| Familial ventricular aneurysms and septal defects map to chromosome 10p15. | Tremblay N et al. | β | 2011 | β |
| Family-based association study of ITGB3 in autism spectrum disorder and its endophenotypes. | Napolioni V et al. | β | 2011 | β |
| Fine mapping of candidate regions for bipolar disorder provides strong evidence for susceptibility loci on chromosomes 7q. | Xu H et al. | β | 2011 | β |
| Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD). | KantojΓ€rvi K et al. | β | 2011 | β |
| Fine mapping quantitative trait loci that influence alcohol preference behavior in the High and Low Alcohol Preferring (HAP and LAP) mice. | Bice PJ et al. | β | 2011 | β |
| Finnish familial Meniere disease is not linked to chromosome 12p12.3, and anticipation and cosegregation with migraine are not common findings. | Hietikko E et al. | β | 2011 | β |
| First-generation linkage map for the common frog Rana temporaria reveals sex-linkage group. | Cano JM et al. | β | 2011 | β |
| FLI1 polymorphism affects susceptibility to cutaneous leishmaniasis in Brazil. | Castellucci L et al. | β | 2011 | β |
| Folate pathway and nonsyndromic cleft lip and palate. | Blanton SH et al. | β | 2011 | β |
| Genetic and clinical analysis in a Chinese parkinsonism-predominant spinocerebellar ataxia type 2 family. | Sun H et al. | β | 2011 | β |
| Genetic and functional evaluation of MITF as a candidate gene for cutaneous melanoma predisposition in pigs. | Bourneuf E et al. | β | 2011 | β |
| Genetic and functional evidence implicating DLL1 as the gene that influences susceptibility to visceral leishmaniasis at chromosome 6q27. | Fakiola M et al. | β | 2011 | β |
| Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract. | He W et al. | β | 2011 | β |
| Genetic loci for blood lipid levels identified by linkage and association analyses in Caribbean Hispanics. | Dong C et al. | β | 2011 | β |
| Genetics of VEGF serum variation in human isolated populations of cilento: importance of VEGF polymorphisms. | Ruggiero D et al. | β | 2011 | β |
| Genome-wide association study of theta band event-related oscillations identifies serotonin receptor gene HTR7 influencing risk of alcohol dependence. | Zlojutro M et al. | β | 2011 | β |
| Genome-wide high-density SNP linkage search for glioma susceptibility loci: results from the Gliogene Consortium. | Shete S et al. | β | 2011 | β |
| Genomewide linkage analysis in Costa Rican families implicates chromosome 15q14 as a candidate region for OCD. | Ross J et al. | β | 2011 | β |
| Genome-wide linkage and peak-wide association study of obesity-related quantitative traits in Caribbean Hispanics. | Dong C et al. | β | 2011 | β |
| Genome-wide linkage scan for primary open angle glaucoma: influences of ancestry and age at diagnosis. | Crooks KR et al. | β | 2011 | β |
| Genome-wide linkage scan of a pedigree with familial hypercholesterolemia suggests susceptibility loci on chromosomes 3q25-26 and 21q22. | Wang X et al. | β | 2011 | β |
| Genome-wide linkage scan to identify loci associated with type 2 diabetes and blood lipid phenotypes in the Sikh Diabetes Study. | Sanghera DK et al. | β | 2011 | β |
| Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21. | Piret SE et al. | β | 2011 | β |
| Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity. | Abou Jamra R et al. | β | 2011 | β |
| Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts. | Ahmad A et al. | β | 2011 | β |
| Identification of novel suggestive loci for high-grade myopia in Polish families. | Rydzanicz M et al. | β | 2011 | β |
| IGF-1 gene polymorphisms in Polish families with high-grade myopia. | Rydzanicz M et al. | β | 2011 | β |
| Inferring haplotypes from genotypes on a pedigree with mutations, genotyping errors and missing alleles. | Wang WB et al. | β | 2011 | β |
| Integration of SNP genotyping confidence scores in IBD inference. | Markus B et al. | β | 2011 | β |
| Interactions of genetic variants with physical activity are associated with blood pressure in Chinese: the GenSalt study. | Montasser ME et al. | β | 2011 | β |
| Linkage analyses of stimulant dependence, craving, and heavy use in American Indians. | Ehlers CL et al. | β | 2011 | β |
| Linkage scan of alcohol dependence in the UCSF Family Alcoholism Study. | Gizer IR et al. | β | 2011 | β |
| Linkage scan of nicotine dependence in the University of California, San Francisco (UCSF) Family Alcoholism Study. | Gizer IR et al. | β | 2011 | β |
| Linkage to chromosome 2q32.2-q33.3 in familial serrated neoplasia (Jass syndrome). | Roberts A et al. | β | 2011 | β |
| Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness. | Baig SM et al. | β | 2011 | β |
| Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. | Borck G et al. | β | 2011 | β |
| Mapping a new spontaneous preterm birth susceptibility gene, IGF1R, using linkage, haplotype sharing, and association analysis. | Haataja R et al. | β | 2011 | β |
| Mapping for dyslexia and related cognitive trait loci provides strong evidence for further risk genes on chromosome 6p21. | KΓΆnig IR et al. | β | 2011 | β |
| Mapping quantitative trait loci for innate immune response in the pig. | Uddin MJ et al. | β | 2011 | β |
| Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism. | Delahanty RJ et al. | β | 2011 | β |
| MHC transmission: insights into gender bias in MS susceptibility. | Chao MJ et al. | β | 2011 | β |
| Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy. | Granger B et al. | β | 2011 | β |
| Multiple independent variants in 6q21-22 associated with susceptibility to celiac disease in the Dutch, Finnish and Hungarian populations. | Einarsdottir E et al. | β | 2011 | β |
| Mutations in a novel serine protease PRSS56 in families with nanophthalmos. | Orr A et al. | β | 2011 | β |
| Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy. | Duff RM et al. | β | 2011 | β |
| No evidence for association between a functional promoter variant of the Norepinephrine Transporter gene SLC6A2 and ADHD in a family-based sample. | Renner TJ et al. | β | 2011 | β |
| Nonsyndromic cleft lip and palate: CRISPLD genes and the folate gene pathway connection. | Chiquet BT et al. | β | 2011 | β |
| Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3. | Ali G et al. | β | 2011 | β |
| Novel susceptibility locus at 22q11 for diabetic nephropathy in type 1 diabetes. | Wessman M et al. | β | 2011 | β |
| Parental depressive feelings, parental support, and the serotonin transporter gene as predictors of adolescent depressive feelings: a latent growth curve analysis. | van Roekel E et al. | β | 2011 | β |
| Pathogenic effects of a novel mutation (c.664_681del) in KCNQ4 channels associated with auditory pathology. | Baek JI et al. | β | 2011 | β |
| Phenotypic variability in a large Czech family with a dynamin 2-associated Charcot-Marie-Tooth neuropathy. | HaberlovΓ‘ J et al. | β | 2011 | β |
| Pleiotropy of type 2 diabetes with obesity. | Hasstedt SJ et al. | β | 2011 | β |
| Polymorphisms in surfactant protein-D are associated with chronic obstructive pulmonary disease. | Foreman MG et al. | β | 2011 | β |
| Quantitative trait loci analysis for leg weakness-related traits in a Duroc Γ Pietrain crossbred population. | Laenoi W et al. | β | 2011 | β |
| Replication and further characterization of a Type 1 diabetes-associated locus at the telomeric end of the major histocompatibility complex. | Baschal EE et al. | β | 2011 | β |
| Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy. | Li YJ et al. | β | 2011 | β |
| Significant linkage at chromosome 19q for otitis media with effusion and/or recurrent otitis media (COME/ROM). | Chen WM et al. | β | 2011 | β |
| Tests for genetic interactions in type 1 diabetes: linkage and stratification analyses of 4,422 affected sib-pairs. | Morahan G et al. | β | 2011 | β |
| The dopamine D2 receptor gene, perceived parental support, and adolescent loneliness: longitudinal evidence for gene-environment interactions. | van Roekel E et al. | β | 2011 | β |
| The genetics of colored sequence synesthesia: suggestive evidence of linkage to 16q and genetic heterogeneity for the condition. | Tomson SN et al. | β | 2011 | β |
| The HLA-B 3906 allele imparts a high risk of diabetes only on specific HLA-DR/DQ haplotypes. | Baschal EE et al. | β | 2011 | β |
| The identification of a novel locus for mandibular prognathism in the Han Chinese population. | Li Q et al. | β | 2011 | β |
| The interferon regulatory factor 5 gene confers susceptibility to rheumatoid arthritis and influences its erosive phenotype. | Dawidowicz K et al. | β | 2011 | β |
| U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation. | Schmid F et al. | β | 2011 | β |
| Validation of a cost-efficient multi-purpose SNP panel for disease based research. | Hou L et al. | β | 2011 | β |
| A combined genome-wide linkage and association approach to find susceptibility loci for platelet function phenotypes in European American and African American families with coronary artery disease. | Mathias RA et al. | β | 2010 | β |
| A common variant in fibroblast growth factor binding protein 1 (FGFBP1) is associated with bone mineral density and influences gene expression in vitro. | Hoppman N et al. | β | 2010 | β |
| A comparison of SNPs and microsatellites as linkage mapping markers: lessons from the zebra finch (Taeniopygia guttata). | Ball AD et al. | β | 2010 | β |
| A comprehensive genetic study on left atrium size in Caribbean Hispanics identifies potential candidate genes in 17p10. | Wang L et al. | β | 2010 | β |
| A comprehensive linkage map of the dog genome. | Wong AK et al. | β | 2010 | β |
| A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1. | Marques-Pinheiro A et al. | β | 2010 | β |
| A genome-wide association study of alcohol dependence. | Bierut LJ et al. | β | 2010 | β |
| A genome-wide screen for depression in two independent Dutch populations. | Schol-Gelok S et al. | β | 2010 | β |
| Allelic variants of IL1R1 gene associate with severe hand osteoarthritis. | NΓ€kki A et al. | β | 2010 | β |
| A locus for an auditory processing deficit and language impairment in an extended pedigree maps to 12p13.31-q14.3. | Addis L et al. | β | 2010 | β |
| ALOX12 gene is associated with the onset of natural menopause in white women. | Liu P et al. | β | 2010 | β |
| A nonsynonymous SNP within PCDH15 is associated with lipid traits in familial combined hyperlipidemia. | Huertas-Vazquez A et al. | β | 2010 | β |
| A novel locus for familial migraine on Xp22. | Wieser T et al. | β | 2010 | β |
| A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis. | Ugur Iseri SA et al. | β | 2010 | β |
| Association analyses of vitamin D-binding protein gene with compression strength index variation in Caucasian nuclear families. | Xu XH et al. | β | 2010 | β |
| Association analyses suggest multiple interaction effects of the methylenetetrahydrofolate reductase polymorphisms on timing of menarche and natural menopause in white women. | Liu P et al. | β | 2010 | β |
| Association analysis of susceptibility candidate region on chromosome 5q31 for tuberculosis. | Ridruechai C et al. | β | 2010 | β |
| Association analysis of the PIP4K2A gene on chromosome 10p12 and schizophrenia in the Irish study of high density schizophrenia families (ISHDSF) and the Irish case-control study of schizophrenia (ICCSS). | Thiselton DL et al. | β | 2010 | β |
| Association and interaction analysis of variants in CHRNA5/CHRNA3/CHRNB4 gene cluster with nicotine dependence in African and European Americans. | Li MD et al. | β | 2010 | β |
| Association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and age of onset in schizophrenia. | Vares M et al. | β | 2010 | β |
| Association of genetic variants in the apelin-APJ system and ACE2 with blood pressure responses to potassium supplementation: the GenSalt study. | Zhao Q et al. | β | 2010 | β |
| Association of matrix metalloproteinase gene polymorphisms with refractive error in Amish and Ashkenazi families. | Wojciechowski R et al. | β | 2010 | β |
| Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study. | Demenais F et al. | β | 2010 | β |
| Association of the POU class 2 homeobox 1 gene (POU2F1) with susceptibility to Type 2 diabetes in Chinese populations. | Ng MC et al. | β | 2010 | β |
| Association study of SNAP25 and schizophrenia in Irish family and case-control samples. | Fanous AH et al. | β | 2010 | β |
| A susceptibility locus on chromosome 6q greatly increases lung cancer risk among light and never smokers. | Amos CI et al. | β | 2010 | β |
| A type of familial cleft of the soft palate maps to 2p24.2-p24.1 or 2p21-p12. | Tsuda M et al. | β | 2010 | β |
| Autosomal dominant restless legs syndrome maps to chromosome 20p13 (RLS-5) in a Dutch kindred. | Sas AM et al. | β | 2010 | β |
| A visual migraine aura locus maps to 9q21-q22. | Tikka-Kleemola P et al. | β | 2010 | β |
| Blood pressure response to potassium supplementation is associated with genetic variation in endothelin 1 and interactions with E selectin in rural Chinese. | Montasser ME et al. | β | 2010 | β |
| Candidate loci for insulin sensitivity and disposition index from a genome-wide association analysis of Hispanic participants in the Insulin Resistance Atherosclerosis (IRAS) Family Study. | Palmer ND et al. | β | 2010 | β |
| Chromosome 7p linkage and association study for diabetes related traits and type 2 diabetes in an African-American population enriched for nephropathy. | Leak TS et al. | β | 2010 | β |
| CIITA variation in the presence of HLA-DRB1*1501 increases risk for multiple sclerosis. | Bronson PG et al. | β | 2010 | β |
| Classification and regression tree and spatial analyses reveal geographic heterogeneity in genome wide linkage study of Indian visceral leishmaniasis. | Fakiola M et al. | β | 2010 | β |
| Confirmation and generalization of an alcohol-dependence locus on chromosome 10q. | Panhuysen CI et al. | β | 2010 | β |
| Congenital sensorineural deafness in Australian stumpy-tail cattle dogs is an autosomal recessive trait that maps to CFA10. | Sommerlad S et al. | β | 2010 | β |
| CXCR1 and SLC11A1 polymorphisms affect susceptibility to cutaneous leishmaniasis in Brazil: a case-control and family-based study. | Castellucci L et al. | β | 2010 | β |
| Detection of fetomaternal genotype associations in early-onset disorders: evaluation of different methods and their application to childhood leukemia. | Healy J et al. | β | 2010 | β |
| Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum. | Ekici AB et al. | β | 2010 | β |
| Early-onset progressive myoclonic epilepsy with dystonia mapping to 16pter-p13.3. | Duru N et al. | β | 2010 | β |
| EEG alpha phenotypes: linkage analyses and relation to alcohol dependence in an American Indian community study. | Ehlers CL et al. | β | 2010 | β |
| Evaluation of DLG2 as a positional candidate for disposition index in African-Americans from the IRAS Family Study. | Palmer ND et al. | β | 2010 | β |
| Evidence for linkage of the bladder exstrophy-epispadias complex on chromosome 4q31.21-22 and 19q13.31-41 from a consanguineous Iranian family. | Reutter H et al. | β | 2010 | β |
| Extent and distribution of linkage disequilibrium in the Old Order Amish. | Van Hout CV et al. | β | 2010 | β |
| Familiality and molecular genetics of attention networks in ADHD. | Konrad K et al. | β | 2010 | β |
| Family-based association study for bipolar affective disorder. | Secolin R et al. | β | 2010 | β |
| Family-based study shows heterogeneity of a susceptibility locus on chromosome 8q24 for nonsyndromic cleft lip and palate. | Blanton SH et al. | β | 2010 | β |
| Fine-mapping of vitiligo susceptibility loci on chromosomes 7 and 9 and interactions with NLRP1 (NALP1). | Jin Y et al. | β | 2010 | β |
| Fine-mapping reveals novel alternative splicing of the dopamine transporter. | Talkowski ME et al. | β | 2010 | β |
| Four novel coeliac disease regions replicated in an association study of a Swedish-Norwegian family cohort. | Amundsen SS et al. | β | 2010 | β |
| GABRR1 and GABRR2, encoding the GABA-A receptor subunits rho1 and rho2, are associated with alcohol dependence. | Xuei X et al. | β | 2010 | β |
| Genes and their effects on dental caries may differ between primary and permanent dentitions. | Wang X et al. | β | 2010 | β |
| Genetic and environmental determinants of total and high-molecular weight adiponectin in families with low HDL-cholesterol and early onset coronary heart disease. | Kangas-Kontio T et al. | β | 2010 | β |
| Genetic architecture of plasma adiponectin overlaps with the genetics of metabolic syndrome-related traits. | Henneman P et al. | β | 2010 | β |
| Genetic association and interaction analysis of USF1 and APOA5 on lipid levels and atherosclerosis. | Laurila PP 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 |
| Genetic linkage of serum homocysteine in Dominican families: the Family Study of Stroke Risk and Carotid Atherosclerosis. | Della-Morte D et al. | β | 2010 | β |
| Genetic mapping of a novel hypotrichosis locus to chromosome 7p21.3-p22.3 in a Pakistani family and screening of the candidate genes. | Basit S et al. | β | 2010 | β |
| Genetic variants in SLC9A9 are associated with measures of attention-deficit/hyperactivity disorder symptoms in families. | Markunas CA et al. | β | 2010 | β |
| Genetic variants in the apelin system and blood pressure responses to dietary sodium interventions: a family-based association study. | Zhao Q et al. | β | 2010 | β |
| Genetic variants in the renin-angiotensin system and blood pressure reactions to the cold pressor test. | Wang L et al. | β | 2010 | β |
| Genetic variation within the HLA class III influences T1D susceptibility conferred by high-risk HLA haplotypes. | Valdes AM et al. | β | 2010 | β |
| Genome scan for loci regulating HDL cholesterol levels in Finnish extended pedigrees with early coronary heart disease. | Kangas-Kontio T et al. | β | 2010 | β |
| Genome scan for locus involved in mandibular prognathism in pedigrees from China. | Li Q et al. | β | 2010 | β |
| Genome-wide and interaction linkage scan for nonsyndromic cleft lip with or without cleft palate in two multiplex families in Shenyang, China. | Wang Y et al. | β | 2010 | β |
| Genome-wide association study of alcohol dependence implicates a region on chromosome 11. | Edenberg HJ et al. | β | 2010 | β |
| Genome-wide association study of vitamin D concentrations in Hispanic Americans: the IRAS family study. | Engelman CD et al. | β | 2010 | β |
| Genomewide linkage and peakwide association analyses of carotid plaque in Caribbean Hispanics. | Dong C et al. | β | 2010 | β |
| Genome-wide linkage and positional candidate gene study of blood pressure response to dietary potassium intervention: the genetic epidemiology network of salt sensitivity study. | Kelly TN et al. | β | 2010 | β |
| Genome-wide linkage in Utah autism pedigrees. | Allen-Brady K et al. | β | 2010 | β |
| Genome-wide linkage scan and association study of PARL to the expression of LHON families in Thailand. | Phasukkijwatana N et al. | β | 2010 | β |
| Genome-wide linkage scan for factors of metabolic syndrome in a Chinese population. | Tam CH et al. | β | 2010 | β |
| Genome-wide linkage scan of bipolar disorder in a Colombian population isolate replicates Loci on chromosomes 7p21-22, 1p31, 16p12 and 21q21-22 and identifies a novel locus on chromosome 12q. | Kremeyer B et al. | β | 2010 | β |
| Genome-wide scan for self-rating of the effects of alcohol in American Indians. | Ehlers CL et al. | β | 2010 | β |
| Genome-wide scanning reveals complex etiology of oculo-auriculo-vertebral spectrum. | Huang XS et al. | β | 2010 | β |
| GSNO reductase and beta2-adrenergic receptor gene-gene interaction: bronchodilator responsiveness to albuterol. | Choudhry S et al. | β | 2010 | β |
| H2 haplotype at chromosome 17q21.31 protects against childhood sexual abuse-associated risk for alcohol consumption and dependence. | Nelson EC et al. | β | 2010 | β |
| Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin. | Borg J et al. | β | 2010 | β |
| HLA genotyping in the international Type 1 Diabetes Genetics Consortium. | Mychaleckyj JC et al. | β | 2010 | β |
| Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment. | Schraders M et al. | β | 2010 | β |
| Horn type and horn length genes map to the same chromosomal region in Soay sheep. | Johnston SE et al. | β | 2010 | β |
| Identification, characterization and genetic mapping of TLR7, TLR8a1 and TLR8a2 genes in rainbow trout (Oncorhynchus mykiss). | Palti Y et al. | β | 2010 | β |
| Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis. | Gale DP et al. | β | 2010 | β |
| Identification of susceptibility loci at 7q31 and 9p13 for bipolar disorder in an isolated population. | Palo OM et al. | β | 2010 | β |
| Identifying loci for the overlap between attention-deficit/hyperactivity disorder and autism spectrum disorder using a genome-wide QTL linkage approach. | Nijmeijer JS et al. | β | 2010 | β |
| Implication of synapse-related genes in bipolar disorder by linkage and gene expression analyses. | Lopez de Lara C et al. | β | 2010 | β |
| Increased BDNF levels and NTRK2 gene association suggest a disruption of BDNF/TrkB signaling in autism. | Correia CT et al. | β | 2010 | β |
| Increasing genotype-phenotype model determinism: application to bivariate reading/language traits and epistatic interactions in language-impaired families. | Simmons TR et al. | β | 2010 | β |
| In vitro vs in silico detected SNPs for the development of a genotyping array: what can we learn from a non-model species? | Lepoittevin C et al. | β | 2010 | β |
| Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy. | Cirak S et al. | β | 2010 | β |
| Linkage analyses of cannabis dependence, craving, and withdrawal in the San Francisco family study. | Ehlers CL et al. | β | 2010 | β |
| Linkage analysis of Tourette syndrome in a large Utah pedigree. | Knight S et al. | β | 2010 | β |
| Linkage and candidate gene studies of autism spectrum disorders in European populations. | Holt R et al. | β | 2010 | β |
| Loneliness in adolescence: gene x environment interactions involving the serotonin transporter gene. | van Roekel E et al. | β | 2010 | β |
| LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome. | Li Y et al. | β | 2010 | β |
| Males with familial idiopathic scoliosis: a distinct phenotypic subgroup. | Clough M et al. | β | 2010 | β |
| Mapping of a novel autosomal recessive hypotrichosis locus on chromosome 10q11.23β22.3. | Naz G et al. | β | 2010 | β |
| Mapping of a novel locus for an autosomal recessive form of palmoplantar keratoderma on chromosome 3q27.2-q29. | Khan S et al. | β | 2010 | β |
| Mapping of quantitative trait loci for mycoplasma and tetanus antibodies and interferon-gamma in a porcine F(2) Duroc x Pietrain resource population. | Uddin MJ et al. | β | 2010 | β |
| Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan. | Rafiq MA et al. | β | 2010 | β |
| Mutations at KCNQ1 and an unknown locus cause long QT syndrome in a large Australian family: implications for genetic testing. | Summers KM et al. | β | 2010 | β |
| Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss. | Li Y et al. | β | 2010 | β |
| Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. | Gurnett CA et al. | β | 2010 | β |
| No evidence for Z-chromosome rearrangements between the pied flycatcher and the collared flycatcher as judged by gene-based comparative genetic maps. | BackstrΓΆm N et al. | β | 2010 | β |
| Novel mutations in the sacsin gene in ataxia patients from Maritime Canada. | Guernsey DL et al. | β | 2010 | β |
| Parametric model-based statistics for possible genotyping errors and sample stratification in sibling-pair SNP data. | Korostishevsky M et al. | β | 2010 | β |
| Parent-of-origin effects at the major histocompatibility complex in multiple sclerosis. | Chao MJ et al. | β | 2010 | β |
| Partitioning of copy-number genotypes in pedigrees. | Perreault LP et al. | β | 2010 | β |
| PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. | Ebermann I et al. | β | 2010 | β |
| Pitfall of identifying a disease locus by using low-resolution SNP arrays. | Gundesli H et al. | β | 2010 | β |
| Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry. | Sousa I et al. | β | 2010 | β |
| Polymorphisms in the GNB3 and ADD1 genes and blood pressure in a Chinese population. | Chen S 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 |
| Rapid haplotype inference for nuclear families. | Williams AL et al. | β | 2010 | β |
| Recurrent and private MYO15A mutations are associated with deafness in the Turkish population. | Cengiz FB et al. | β | 2010 | β |
| Replication analysis confirms the association of ARID5B with childhood B-cell acute lymphoblastic leukemia. | Healy J et al. | β | 2010 | β |
| Replication of association between working memory and Reelin, a potential modifier gene in schizophrenia. | Wedenoja J et al. | β | 2010 | β |
| Replication of previous genome-wide association studies of bone mineral density in premenopausal American women. | Ichikawa S et al. | β | 2010 | β |
| Serotonin (5-HT) receptor 5A sequence variants affect human plasma triglyceride levels. | Zhang Y et al. | β | 2010 | β |
| Significant association of glutamate receptor, ionotropic N-methyl-D-aspartate 3A (GRIN3A), with nicotine dependence in European- and African-American smokers. | Ma JZ et al. | β | 2010 | β |
| Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling. | Li Y et al. | β | 2010 | β |
| Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region. | Brunetti-Pierri N et al. | β | 2010 | β |
| The -2518bp promoter polymorphism at CCL2/MCP1 influences susceptibility to mucosal but not localized cutaneous leishmaniasis in Brazil. | Ramasawmy R et al. | β | 2010 | β |
| The genetic architecture of lipoprotein subclasses in Gullah-speaking African American families enriched for type 2 diabetes: the Sea Islands Genetic African American Registry (Project SuGAR). | Divers J et al. | β | 2010 | β |
| The genetic basis of recessive self-colour pattern in a wild sheep population. | Gratten J et al. | β | 2010 | β |
| The role of LTA4H and ALOX5AP genes in the risk for asthma in Latinos. | Via M et al. | β | 2010 | β |
| The role of the polycystic ovary syndrome susceptibility locus D19S884 allele 8 in maternal glycemia and fetal size. | Ackerman CM et al. | β | 2010 | β |
| TNFRSF11A and TNFSF11 are associated with age at menarche and natural menopause in white women. | Lu Y et al. | β | 2010 | β |
| Univariate and bivariate linkage analysis identifies pleiotropic loci underlying lipid levels and type 2 diabetes risk. | Hasstedt SJ et al. | β | 2010 | β |
| Variant in the 3' region of the IkappaBalpha gene associated with insulin resistance in Hispanic Americans: The IRAS Family Study. | Miller MR et al. | β | 2010 | β |
| X-linked hereditary hemihypotrophy hemiparesis hemiathetosis. | Reese J et al. | β | 2010 | β |
| A domestic cat X chromosome linkage map and the sex-linked orange locus: mapping of orange, multiple origins and epistasis over nonagouti. | Schmidt-KΓΌntzel A et al. | β | 2009 | β |
| A family-based association study of the glutamate transporter gene SLC1A1 in obsessive-compulsive disorder in 378 families. | Shugart YY et al. | β | 2009 | β |
| A first generation BAC-based physical map of the rainbow trout genome. | Palti Y et al. | β | 2009 | β |
| A genetic study of the ghrelin and growth hormone secretagogue receptor (GHSR) genes and stature. | Gueorguiev M et al. | β | 2009 | β |
| A genome screen of 35 bipolar affective disorder pedigrees provides significant evidence for a susceptibility locus on chromosome 15q25-26. | McAuley EZ et al. | β | 2009 | β |
| A genome-wide association scan for acute insulin response to glucose in Hispanic-Americans: the Insulin Resistance Atherosclerosis Family Study (IRAS FS). | Rich SS et al. | β | 2009 | β |
| A genome-wide scan for the Sasang constitution in a Korean family suggests significant linkage at chromosomes 8q11.22-23 and 11q22.1-3. | Won HH et al. | β | 2009 | β |
| Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease. | Verlaan DJ et al. | β | 2009 | β |
| Allelic variants in HTR3C show association with autism. | RehnstrΓΆm K et al. | β | 2009 | β |
| A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia. | Glaudemans B et al. | β | 2009 | β |
| Analysis of FTO gene variants with measures of obesity and glucose homeostasis in the IRAS Family Study. | Wing MR et al. | β | 2009 | β |
| Analysis of maternal-offspring HLA compatibility, parent-of-origin and non-inherited maternal effects for the classical HLA loci in type 1 diabetes. | Bronson PG et al. | β | 2009 | β |
| An autosomal genetic linkage map of the domestic cat, Felis silvestris catus. | Menotti-Raymond M et al. | β | 2009 | β |
| A new standard genetic map for the laboratory mouse. | Cox A et al. | β | 2009 | β |
| An international collaborative family-based whole-genome linkage scan for high-grade myopia. | Li YJ et al. | β | 2009 | β |
| A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family. | Burdon KP et al. | β | 2009 | β |
| A novel locus for adolescent idiopathic scoliosis on chromosome 12p. | Raggio CL 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 mutation in CRYBB2 responsible for inherited coronary cataract. | Lou D et al. | β | 2009 | β |
| A novel Refsum-like disorder that maps to chromosome 20. | Fiskerstrand T et al. | β | 2009 | β |
| A novel SIX3 mutation segregates with holoprosencephaly in a large family. | Solomon BD et al. | β | 2009 | β |
| A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness. | MΓ©garbanΓ© A et al. | β | 2009 | β |
| Association analyses of RANKL/RANK/OPG gene polymorphisms with femoral neck compression strength index variation in Caucasians. | Dong SS et al. | β | 2009 | β |
| Association between genes of Disrupted in schizophrenia 1 (DISC1) interactors and schizophrenia supports the role of the DISC1 pathway in the etiology of major mental illnesses. | Tomppo L et al. | β | 2009 | β |
| Association of adenylate cyclase 10 (ADCY10) polymorphisms and bone mineral density in healthy adults. | Ichikawa S et al. | β | 2009 | β |
| Association of LOXL1 gene with Finnish exfoliation syndrome patients. | LemmelΓ€ S et al. | β | 2009 | β |
| Association of psoriasis to PGLYRP and SPRR genes at PSORS4 locus on 1q shows heterogeneity between Finnish, Swedish and Irish families. | Kainu K et al. | β | 2009 | β |
| Association of SSTR2 polymorphisms and glucose homeostasis phenotypes: the Insulin Resistance Atherosclerosis Family Study. | Sutton BS et al. | β | 2009 | β |
| Association of the 3' region of COMT with schizophrenia in Taiwan. | Chien YL et al. | β | 2009 | β |
| Association of the 5'-upstream regulatory region of the alpha7 nicotinic acetylcholine receptor subunit gene (CHRNA7) with schizophrenia. | Stephens SH et al. | β | 2009 | β |
| Association of TRPV4 gene polymorphisms with chronic obstructive pulmonary disease. | Zhu G et al. | β | 2009 | β |
| Association of variants in MANEA with cocaine-related behaviors. | Farrer LA et al. | β | 2009 | β |
| Association of VEGF polymorphisms with childhood asthma, lung function and airway responsiveness. | Sharma S et al. | β | 2009 | β |
| Associations of 25 structural, degradative, and inflammatory candidate genes with lumbar disc desiccation, bulging, and height narrowing. | Videman T et al. | β | 2009 | β |
| Association studies on ghrelin and ghrelin receptor gene polymorphisms with obesity. | Gueorguiev M et al. | β | 2009 | β |
| A whole-genome scan and fine-mapping linkage study of auditory-visual synesthesia reveals evidence of linkage to chromosomes 2q24, 5q33, 6p12, and 12p12. | Asher JE et al. | β | 2009 | β |
| Bipolar disorder in the Bulgarian Gypsies: genetic heterogeneity in a young founder population. | Kaneva R et al. | β | 2009 | β |
| Bivariate genome-wide linkage analysis for traits BMD and AAM: effect of menopause on linkage signals. | Zhang ZX et al. | β | 2009 | β |
| Bivariate whole-genome linkage scan for bone geometry and total body fat mass. | Lei S et al. | β | 2009 | β |
| Bone morphogenetic protein 7 (BMP7) gene polymorphisms are associated with inverse relationships between vascular calcification and BMD: the Diabetes Heart Study. | Freedman BI et al. | β | 2009 | β |
| Chromosome 13q13-q14 locus overlaps mood and psychotic disorders: the relevance for redefining phenotype. | Maziade M et al. | β | 2009 | β |
| Chromosome 2q12, the ADRA2B I/D polymorphism and metabolic syndrome. | Fava C et al. | β | 2009 | β |
| Clustering by neurocognition for fine mapping of the schizophrenia susceptibility loci on chromosome 6p. | Lin SH et al. | β | 2009 | β |
| Collagen type III alpha I is a gastro-oesophageal reflux disease susceptibility gene and a male risk factor for hiatus hernia. | Asling B et al. | β | 2009 | β |
| Common and rare variants of DAOA in bipolar disorder. | Maheshwari M et al. | β | 2009 | β |
| Common genetic variation near MC4R is associated with eating behaviour patterns in European populations. | Stutzmann F et al. | β | 2009 | β |
| Comparison of whole genome linkage scans in premenopausal and postmenopausal women: no bone-loss-specific QTLs were implicated. | Yan H et al. | β | 2009 | β |
| Comprehensive linkage and association analyses identify haplotype, near to the TNFSF15 gene, significantly associated with spondyloarthritis. | Zinovieva E et al. | β | 2009 | β |
| Conditional analyses on the T1DGC MHC dataset: novel associations with type 1 diabetes around HLA-G and confirmation of HLA-B. | Eike MC et al. | β | 2009 | β |
| Consanguinity associated with increased risk for bipolar I disorder in Egypt. | Mansour H et al. | β | 2009 | β |
| Convergent patterns of association between phenylalanine hydroxylase variants and schizophrenia in four independent samples. | Talkowski ME et al. | β | 2009 | β |
| Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection. | Sykes NH et al. | β | 2009 | β |
| Cost-effective HLA typing with tagging SNPs predicts celiac disease risk haplotypes in the Finnish, Hungarian, and Italian populations. | Koskinen L et al. | β | 2009 | β |
| CTLA4 gene polymorphisms are associated with chronic bronchitis. | Zhu G et al. | β | 2009 | β |
| Defining multiple common "completely" conserved major histocompatibility complex SNP haplotypes. | Baschal EE et al. | β | 2009 | β |
| Dense genomewide linkage scan for alcohol dependence in African Americans: significant linkage on chromosome 10. | Gelernter J et al. | β | 2009 | β |
| Dense genome-wide SNP linkage scan in 301 hereditary prostate cancer families identifies multiple regions with suggestive evidence for linkage. | Stanford JL et al. | β | 2009 | β |
| Detection of genetic association and a functional polymorphism of dynamin 1 gene with nicotine dependence in European and African Americans. | Xu Q et al. | β | 2009 | β |
| Determination of genetic predisposition to patent ductus arteriosus in preterm infants. | Dagle JM et al. | β | 2009 | β |
| Development of predictive models for airflow obstruction in alpha-1-antitrypsin deficiency. | Castaldi PJ et al. | β | 2009 | β |
| Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. | Dathe K et al. | β | 2009 | β |
| Ectodermal dysplasia-cutaneous syndactyly syndrome maps to chromosome 7p21.1-p14.3. | Tariq M et al. | β | 2009 | β |
| Epigenetics in multiple sclerosis susceptibility: difference in transgenerational risk localizes to the major histocompatibility complex. | Chao MJ et al. | β | 2009 | β |
| Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. | Bockenhauer D et al. | β | 2009 | β |
| Evidence for association between polymorphisms in the cannabinoid receptor 1 (CNR1) gene and cannabis dependence. | Agrawal A et al. | β | 2009 | β |
| Evidence for association with hepatocellular carcinoma at the PAPSS1 locus on chromosome 4q25 in a family-based study. | Shih WL et al. | β | 2009 | β |
| Evidence for genetic association and interaction between the TYK2 and IRF5 genes in systemic lupus erythematosus. | Hellquist A et al. | β | 2009 | β |
| Examination of association of genes in the serotonin system to autism. | Anderson BM et al. | β | 2009 | β |
| Examination of tetrahydrobiopterin pathway genes in autism. | Schnetz-Boutaud NC et al. | β | 2009 | β |
| Exploring the genetic link between RLS and ADHD. | Schimmelmann BG et al. | β | 2009 | β |
| Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene. | El-Harith el-HA et al. | β | 2009 | β |
| Fine-mapping of candidate region in Amish and Ashkenazi families confirms linkage of refractive error to a QTL on 1p34-p36. | Wojciechowski R et al. | β | 2009 | β |
| Fine mapping of the CELIAC2 locus on chromosome 5q31-q33 in the Finnish and Hungarian populations. | Koskinen LL et al. | β | 2009 | β |
| Fine mapping on chromosome 10q22-q23 implicates Neuregulin 3 in schizophrenia. | Chen PL et al. | β | 2009 | β |
| Further evidence for the involvement of MYH9 in the etiology of non-syndromic cleft lip with or without cleft palate. | Birnbaum S et al. | β | 2009 | β |
| Gender differences in genetic linkage and association on 11p15 in obsessive-compulsive disorder families. | Wang Y et al. | β | 2009 | β |
| Genetic analysis of diabetic nephropathy on chromosome 18 in African Americans: linkage analysis and dense SNP mapping. | McDonough CW et al. | β | 2009 | β |
| Genetic ancestry modifies pharmacogenetic gene-gene interaction for asthma. | Corvol H et al. | β | 2009 | β |
| Genetic architecture of tameness in a rat model of animal domestication. | Albert FW et al. | β | 2009 | β |
| Genetic determinants of facial clefting: analysis of 357 candidate genes using two national cleft studies from Scandinavia. | Jugessur A et al. | β | 2009 | β |
| Genetic effect on blood pressure is modulated by age: the Hypertension Genetic Epidemiology Network Study. | Shi G et al. | β | 2009 | β |
| Genetic linkage findings for DSM-IV nicotine withdrawal in two populations. | Pergadia ML et al. | β | 2009 | β |
| Genetic linkage localizes an adolescent idiopathic scoliosis and pectus excavatum gene to chromosome 18 q. | Gurnett CA et al. | β | 2009 | β |
| Genetic variants in COMT and neurocognitive impairment in families of patients with schizophrenia. | Liao SY et al. | β | 2009 | β |
| Genetic variants of the HLA-A, HLA-B and AIF1 loci show independent associations with type 1 diabetes in Norwegian families. | Eike MC et al. | β | 2009 | β |
| Genetic variation at the proprotein convertase subtilisin/kexin type 5 gene modulates high-density lipoprotein cholesterol levels. | Iatan I et al. | β | 2009 | β |
| Genetic variation in ORM1-like 3 (ORMDL3) and gasdermin-like (GSDML) and childhood asthma. | Wu H et al. | β | 2009 | β |
| Genetic variation in the serotonin 2A receptor and suicidal ideation in a sample of 270 Irish high-density schizophrenia families. | Fanous AH et al. | β | 2009 | β |
| Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype-specific differences in linkage and association results. | Marazita ML et al. | β | 2009 | β |
| Genome-wide association analyses suggested a novel mechanism for smoking behavior regulated by IL15. | Liu YZ et al. | β | 2009 | β |
| Genome-wide association and linkage analysis of quantitative traits: comparison of likelihood-ratio test and conditional score statistic. | Hendricks AE et al. | β | 2009 | β |
| Genome-wide association study and follow-up analysis of adiposity traits in Hispanic Americans: the IRAS Family Study. | Norris JM et al. | β | 2009 | β |
| Genome-wide linkage analysis of serum creatinine in three isolated European populations. | Pattaro C et al. | β | 2009 | β |
| Genome-wide linkage and admixture mapping of type 2 diabetes in African American families from the American Diabetes Association GENNID (Genetics of NIDDM) Study Cohort. | Elbein SC et al. | β | 2009 | β |
| Genome-wide linkage and follow-up association study of postpartum mood symptoms. | Mahon PB et al. | β | 2009 | β |
| Genome-wide linkage of cotinine pharmacokinetics suggests candidate regions on chromosomes 9 and 11. | He Y et al. | β | 2009 | β |
| Genome-wide linkage scan for bladder exstrophy-epispadias complex. | Ludwig M et al. | β | 2009 | β |
| Genome-wide linkage scan in Gullah-speaking African American families with type 2 diabetes: the Sea Islands Genetic African American Registry (Project SuGAR). | Sale MM et al. | β | 2009 | β |
| Genome-wide linkage screen for stature and body mass index in 3.032 families: evidence for sex- and population-specific genetic effects. | Sammalisto S et al. | β | 2009 | β |
| Genome-wide scan for linkage to type 1 diabetes in 2,496 multiplex families from the Type 1 Diabetes Genetics Consortium. | Concannon P et al. | β | 2009 | β |
| Genome-wide SNP-based linkage analysis of tuberculosis in Thais. | Mahasirimongkol S et al. | β | 2009 | β |
| Genomewide SNP screen to detect quantitative trait loci for alcohol preference in the high alcohol preferring and low alcohol preferring mice. | Bice P et al. | β | 2009 | β |
| Genome-wide study of families with absolute pitch reveals linkage to 8q24.21 and locus heterogeneity. | Theusch E et al. | β | 2009 | β |
| Genomic susceptibility Loci for brain atrophy, ventricular volume, and leukoaraiosis in hypertensive sibships. | Turner ST et al. | β | 2009 | β |
| Genotyping error detection in samples of unrelated individuals without replicate genotyping. | Liu N et al. | β | 2009 | β |
| Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation. | Huck K et al. | β | 2009 | β |
| Glucokinase regulatory protein gene polymorphism affects postprandial lipemic response in a dietary intervention study. | Shen H et al. | β | 2009 | β |
| Heritability and linkage analysis for carotid intima-media thickness: the family study of stroke risk and carotid atherosclerosis. | Sacco RL et al. | β | 2009 | β |
| High resolution linkage and linkage disequilibrium analyses of chromosome 1p36 SNPs identify new positional candidate genes for low bone mineral density. | Zhang H 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 a prostate cancer susceptibility gene on chromosome 5p13q12 associated with risk of both familial and sporadic disease. | FitzGerald LM et al. | β | 2009 | β |
| Identification of a schizophrenia-associated functional noncoding variant in NOS1AP. | Wratten NS et al. | β | 2009 | β |
| Identification of genomic regions contributing to etoposide-induced cytotoxicity. | Bleibel WK et al. | β | 2009 | β |
| Identification of MAMDC1 as a candidate susceptibility gene for systemic lupus erythematosus (SLE). | Hellquist A et al. | β | 2009 | β |
| IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response. | Oeffner F et al. | β | 2009 | β |
| IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac disease. | Einarsdottir E et al. | β | 2009 | β |
| INSIG2 SNPs associated with obesity and glucose homeostasis traits in Hispanics: the IRAS Family Study. | Talbert ME et al. | β | 2009 | β |
| Interaction between HNF4A polymorphisms and physical activity in relation to type 2 diabetes-related traits: results from the Quebec Family Study. | Ruchat SM et al. | β | 2009 | β |
| Interaction between two independent CNR1 variants increases risk for cocaine dependence in European Americans: a replication study in family-based sample and population-based sample. | Zuo L et al. | β | 2009 | β |
| Linkage analysis of adult height in a large pedigree from a Dutch genetically isolated population. | Axenovich TI et al. | β | 2009 | β |
| Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome). | McBride KL et al. | β | 2009 | β |
| Linkage analysis with dense SNP maps in isolated populations. | Bellenguez C et al. | β | 2009 | β |
| Linkage and association study of FcgammaR polymorphisms in celiac disease. | Sareneva I et al. | β | 2009 | β |
| Linkage and linkage disequilibrium scan for autism loci in an extended pedigree from Finland. | Kilpinen H et al. | β | 2009 | β |
| Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32. | Gajecka M et al. | β | 2009 | β |
| MET and autism susceptibility: family and case-control studies. | Sousa I et al. | β | 2009 | β |
| Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations. | Mocci E et al. | β | 2009 | β |
| Missing call bias in high-throughput genotyping. | Fu W et al. | β | 2009 | β |
| Molecular genetics of human myopia: an update. | Young TL | β | 2009 | β |
| Multicenter dizygotic twin cohort study confirms two linkage susceptibility loci for body mass index at 3q29 and 7q36 and identifies three further potential novel loci. | Kettunen J et al. | β | 2009 | β |
| Musical aptitude is associated with AVPR1A-haplotypes. | Ukkola LT et al. | β | 2009 | β |
| Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy. | Verkerk AJ et al. | β | 2009 | β |
| Mutations in PYCR1 cause cutis laxa with progeroid features. | Reversade B et al. | β | 2009 | β |
| MYO9B polymorphisms in multiple sclerosis. | Kemppinen A et al. | β | 2009 | β |
| Nicotine withdrawal sensitivity, linkage to chr6q26, and association of OPRM1 SNPs in the SMOking in FAMilies (SMOFAM) sample. | Hardin J et al. | β | 2009 | β |
| No evidence for association between TGFB1 promoter SNPs and the risk of childhood pre-B acute lymphoblastic leukemia among French Canadians. | Healy J et al. | β | 2009 | β |
| Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3. | Chishti MS et al. | β | 2009 | β |
| Novel genetic variants in the alpha-adducin and guanine nucleotide binding protein beta-polypeptide 3 genes and salt sensitivity of blood pressure. | Kelly TN et al. | β | 2009 | β |
| Novel quantitative trait locus is mapped to chromosome 12p11 for left ventricular mass in Dominican families: the Family Study of Stroke Risk and Carotid Atherosclerosis. | Wang L et al. | β | 2009 | β |
| Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS+. | Poduri A et al. | β | 2009 | β |
| Otitis media: a genome-wide linkage scan with evidence of susceptibility loci within the 17q12 and 10q22.3 regions. | Casselbrant ML et al. | β | 2009 | β |
| Overview of the MHC fine mapping data. | Brown WM et al. | β | 2009 | β |
| Overview of the Rapid Response data. | Brown WM et al. | β | 2009 | β |
| Pili annulati: refinement of the locus on chromosome 12q24.33 to a 2.9-Mb interval and candidate gene analysis. | Giehl KA et al. | β | 2009 | β |
| Polymorphisms near SOCS3 are associated with obesity and glucose homeostasis traits in Hispanic Americans from the Insulin Resistance Atherosclerosis Family Study. | Talbert ME et al. | β | 2009 | β |
| Positional cloning of deafness genes. | Kremer H et al. | β | 2009 | β |
| Pro-opiomelanocortin gene variation related to alcohol or drug dependence: evidence and replications across family- and population-based studies. | Zhang H et al. | β | 2009 | β |
| Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2. | Rajab A et al. | β | 2009 | β |
| Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor. | Ban M et al. | β | 2009 | β |
| Sapap3 and pathological grooming in humans: Results from the OCD collaborative genetics study. | Bienvenu OJ et al. | β | 2009 | β |
| Sequence variation in IGF1R is associated with differences in insulin levels in nondiabetic Old Order Amish. | Naj AC et al. | β | 2009 | β |
| Sex-specific effect of IL9 polymorphisms on lung function and polysensitization. | Aschard H et al. | β | 2009 | β |
| Significant evidence for linkage to chromosome 5q13 in a genome-wide scan for asthma in an extended pedigree resource. | Teerlink CC et al. | β | 2009 | β |
| Single nucleotide polymorphism discovery in rainbow trout by deep sequencing of a reduced representation library. | SΓ‘nchez CC et al. | β | 2009 | β |
| Suggestive linkage detected for blood pressure related traits on 2q and 22q in the population on the Samoan islands. | Aberg K et al. | β | 2009 | β |
| Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3). | Alsmadi O 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 cyclic GMP-dependent protein kinase II gene associates with gout disease: identified by genome-wide analysis and case-control study. | Chang SJ et al. | β | 2009 | β |
| The frequent and conserved DR3-B8-A1 extended haplotype confers less diabetes risk than other DR3 haplotypes. | Baschal EE et al. | β | 2009 | β |
| The heritability and genetics of complement C3 expression in UK SLE families. | Rhodes B et al. | β | 2009 | β |
| The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P. | Choi SJ et al. | β | 2009 | β |
| The shared CTLA4-ICOS risk locus in celiac disease, IgA deficiency and common variable immunodeficiency. | Haimila K et al. | β | 2009 | β |
| The T-381C SNP in BNP gene may be modestly associated with type 2 diabetes: an updated meta-analysis in 49 279 subjects. | Choquet H et al. | β | 2009 | β |
| Three microsatellites from the T1DGC MHC data set show highly significant association with type 1 diabetes, independent of the HLA-DRB1, -DQA1 and -DQB1 genes. | Eike MC et al. | β | 2009 | β |
| Transforming growth factor-beta receptor type 1 (TGFBR1) is not associated with non-syndromic cleft lip with or without cleft palate in patients of Central European descent. | Reutter H et al. | β | 2009 | β |
| Variants in TGFB1, dust mite exposure, and disease severity in children with asthma. | Sharma S et al. | β | 2009 | β |
| Variation in IGF2BP2 interacts with adiposity to alter insulin sensitivity in Mexican Americans. | Li X et al. | β | 2009 | β |
| Variation in the ATP-binding cassette transporter 2 gene is a separate risk factor for systemic lupus erythematosus within the MHC. | Ramos PS et al. | β | 2009 | β |
| A bivariate whole genome linkage study identified genomic regions influencing both BMD and bone structure. | Liu XG et al. | β | 2008 | β |
| Accuracy of family history of hemochromatosis or iron overload: the hemochromatosis and iron overload screening study. | Acton RT et al. | β | 2008 | β |
| A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. | Garshasbi M 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 genome wide linkage scan for cleft lip and palate and dental anomalies. | Vieira AR et al. | β | 2008 | β |
| A genome-wide linkage scan identifies multiple chromosomal regions influencing serum lipid levels in the population on the Samoan islands. | Aberg K et al. | β | 2008 | β |
| A genome-wide linkage study in families with major depression and co-morbid unexplained swelling. | Anderson CA et al. | β | 2008 | β |
| A genome-wide scan in an Amish pedigree with parkinsonism. | Lee SL et al. | β | 2008 | β |
| A high-density SNP linkage scan with 142 combined subtype ADHD sib pairs identifies linkage regions on chromosomes 9 and 16. | Asherson P et al. | β | 2008 | β |
| A human type 1 diabetes susceptibility locus maps to chromosome 21q22.3. | Concannon P et al. | β | 2008 | β |
| AKT1 is associated with schizophrenia across multiple symptom dimensions in the Irish study of high density schizophrenia families. | Thiselton DL et al. | β | 2008 | β |
| A large-scale genome-wide linkage analysis to map loci linked to stature in Chinese population. | Hong X et al. | β | 2008 | β |
| Allelic variants of SNAP25 in a family-based sample of ADHD. | Renner TJ et al. | β | 2008 | β |
| A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults. | Gotthardt D et al. | β | 2008 | β |
| Analyses of the National Institute on Aging Late-Onset Alzheimer's Disease Family Study: implication of additional loci. | Lee JH et al. | β | 2008 | β |
| Analysis of single nucleotide polymorphisms identifies major type 1A diabetes locus telomeric of the major histocompatibility complex. | Aly TA et al. | β | 2008 | β |
| A network of dopaminergic gene variations implicated as risk factors for schizophrenia. | Talkowski ME et al. | β | 2008 | β |
| A novel locus for ectodermal dysplasia of hairs, nails and teeth type maps to chromosome 18q22.1-22.3. | Tariq M et al. | β | 2008 | β |
| A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family. | Sanggaard KM et al. | β | 2008 | β |
| Applying novel genome-wide linkage strategies to search for loci influencing type 2 diabetes and adult height in American Samoa. | Aberg K et al. | β | 2008 | β |
| A regulatory SNP of the BICD1 gene contributes to telomere length variation in humans. | Mangino M et al. | β | 2008 | β |
| Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. | Berkovic SF et al. | β | 2008 | β |
| A second generation genetic map for rainbow trout (Oncorhynchus mykiss). | Rexroad CE et al. | β | 2008 | β |
| Association analysis of genes encoding the nociceptin receptor (OPRL1) and its endogenous ligand (PNOC) with alcohol or illicit drug dependence. | Xuei X et al. | β | 2008 | β |
| Association of amyloid precursor protein-binding protein, family B, member 1 with nicotine dependence in African and European American smokers. | Chen GB et al. | β | 2008 | β |
| Association of DISC1 with autism and Asperger syndrome. | Kilpinen H et al. | β | 2008 | β |
| Association of stearoyl-CoA desaturase 1 activity with familial combined hyperlipidemia. | Mar-Heyming R et al. | β | 2008 | β |
| Association of TCF7L2 gene polymorphisms with reduced acute insulin response in Hispanic Americans. | Palmer ND et al. | β | 2008 | β |
| Association of the ENGRAILED 2 (EN2) gene with autism in Chinese Han population. | Wang L et al. | β | 2008 | β |
| Association of the Kir6.2 E23K variant with reduced acute insulin response in African-Americans. | Palmer ND et al. | β | 2008 | β |
| Association of the timing of puberty with a chromosome 2 locus. | Wehkalampi K et al. | β | 2008 | β |
| Association studies of ALOX5 and bone mineral density in healthy adults. | Foroud T et al. | β | 2008 | β |
| A syndromic form of autosomal recessive congenital microcephaly (Jawad syndrome) maps to chromosome 18p11.22-q11.2. | Hassan MJ et al. | β | 2008 | β |
| A Systematic single nucleotide polymorphism screen to fine-map alcohol dependence genes on chromosome 7 identifies association with a novel susceptibility gene ACN9. | Dick DM et al. | β | 2008 | β |
| Autosome-wide linkage analysis of hip structural phenotypes in the Old Order Amish. | Streeten EA et al. | β | 2008 | β |
| A whole genome linkage scan for QTLs underlying peak bone mineral density. | Zhang F et al. | β | 2008 | β |
| A whole genome linkage scan identifies multiple chromosomal regions influencing adiposity-related traits among Samoans. | Dai F et al. | β | 2008 | β |
| Beta-arrestins 1 and 2 are associated with nicotine dependence in European American smokers. | Sun D et al. | β | 2008 | β |
| Bivariate genome linkage analysis suggests pleiotropic effects on chromosomes 20p and 3p for body fat mass and lean mass. | Zhao J et al. | β | 2008 | β |
| Bivariate whole genome linkage analyses for total body lean mass and BMD. | Wang XL et al. | β | 2008 | β |
| C2 and CFB genes in age-related maculopathy and joint action with CFH and LOC387715 genes. | Jakobsdottir J et al. | β | 2008 | β |
| CFTR mutations and reproductive outcomes in a population isolate. | Gallego Romero I et al. | β | 2008 | β |
| Chromosomal regions 22q13 and 3p25 may harbor quantitative trait loci influencing both age at menarche and bone mineral density. | Pan F et al. | β | 2008 | β |
| Chromosome 10q harbors a susceptibility locus for bipolar disorder in Ashkenazi Jewish families. | Venken T et al. | β | 2008 | β |
| CLCN7 polymorphisms and bone mineral density in healthy premenopausal white women and in white men. | Chu K et al. | β | 2008 | β |
| Clock genes may influence bipolar disorder susceptibility and dysfunctional circadian rhythm. | Shi J et al. | β | 2008 | β |
| Common genetic origins for EEG, alcoholism and anxiety: the role of CRH-BP. | Enoch MA et al. | β | 2008 | β |
| Complex aetiology of an apparently Mendelian form of mental retardation. | Beleza-Meireles A et al. | β | 2008 | β |
| Comprehensive association analyses of IGF1, ESR2, and CYP17 genes with adult height in Caucasians. | Yang TL et al. | β | 2008 | β |
| Confirmation of dyslexia susceptibility loci on chromosomes 1p and 2p, but not 6p in a Dutch sib-pair collection. | de Kovel CG 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 |
| Consistently replicating locus linked to migraine on 10q22-q23. | Anttila V et al. | β | 2008 | β |
| Design considerations in a sib-pair study of linkage for susceptibility loci in cancer. | Kerber RA et al. | β | 2008 | β |
| Dopaminergic mutations: within-family association and linkage in multiplex alcohol dependence families. | Hill SY et al. | β | 2008 | β |
| Dust mite exposure modifies the effect of functional IL10 polymorphisms on allergy and asthma exacerbations. | Hunninghake GM et al. | β | 2008 | β |
| Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23. | Stuhrmann M et al. | β | 2008 | β |
| Evidence for linkage of a new region (11p14) to eczema and allergic diseases. | Guilloud-Bataille M et al. | β | 2008 | β |
| Evidence for major pleiotropic effects on bone size variation from a principal component analysis of 451 Caucasian families. | Tan LJ et al. | β | 2008 | β |
| Evidence of association between brain-derived neurotrophic factor gene and bipolar disorder. | Liu L et al. | β | 2008 | β |
| Examination of association to autism of common genetic variationin genes related to dopamine. | Anderson BM et al. | β | 2008 | β |
| Family-based association study of cytotoxic T-lymphocyte antigen-4 with susceptibility to Graves' disease in Han population of Taiwan. | Chen PL et al. | β | 2008 | β |
| Fine mapping study in Scandinavian families suggests association between coeliac disease and haplotypes in chromosome region 5q32. | Adamovic S et al. | β | 2008 | β |
| Follow-up analysis of 180 Chinese Han families: identification of a novel locus for psoriasis at 2p22.3-11.2. | Sun LD et al. | β | 2008 | β |
| Further evidence for a susceptibility locus contributing to reading disability on chromosome 15q15-q21. | Schumacher J et al. | β | 2008 | β |
| Further examination of the candidate genes in chromosome 12p13 locus for late-onset Alzheimer disease. | Lee JH et al. | β | 2008 | β |
| Gender differences in genetic risk profiles for cardiovascular disease. | Silander K et al. | β | 2008 | β |
| Gene-gene interactions among CHRNA4, CHRNB2, BDNF, and NTRK2 in nicotine dependence. | Li MD et al. | β | 2008 | β |
| Genetic and environmental determinants of 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D levels in Hispanic and African Americans. | Engelman CD et al. | β | 2008 | β |
| Genetic determinants of basal C-reactive protein expression in Filipino systemic lupus erythematosus families. | Rhodes B et al. | β | 2008 | β |
| Genetic determination and linkage mapping of Plasmodium falciparum malaria related traits in Senegal. | Sakuntabhai A et al. | β | 2008 | β |
| Genetic epidemiology of subclinical cardiovascular disease in the diabetes heart study. | Bowden DW et al. | β | 2008 | β |
| Genetic variation in nitric oxide synthase 2A (NOS2A) and risk for multiple sclerosis. | Barcellos LF et al. | β | 2008 | β |
| Genome screen of 15 Australian bipolar affective disorder pedigrees supports previously identified loci for bipolar susceptibility genes. | Fullerton JM et al. | β | 2008 | β |
| Genome-wide admixture mapping for coronary artery calcification in African Americans: the NHLBI Family Heart Study. | Zhang Q et al. | β | 2008 | β |
| Genome-wide linkage analysis for circulating levels of adipokines and C-reactive protein in the Quebec family study (QFS). | Ruchat 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 |
| Genome-wide linkage scan for colorectal cancer susceptibility genes supports linkage to chromosome 3q. | Picelli S et al. | β | 2008 | β |
| Genomewide linkage scan for combined obesity phenotypes using principal component analysis. | He LN et al. | β | 2008 | β |
| Genome-wide linkage scan for nicotine dependence in European Americans and its converging results with African Americans in the Mid-South Tobacco Family sample. | Li MD et al. | β | 2008 | β |
| Genome-wide linkage scan for the metabolic syndrome: the GENNID study. | Edwards KL et al. | β | 2008 | β |
| Genomewide linkage scan reveals novel loci modifying age of onset of Huntington's disease in the Venezuelan HD kindreds. | GayΓ‘n J et al. | β | 2008 | β |
| Genome-wide linkage scans for renal function and albuminuria in Type 2 diabetes mellitus: the Diabetes Heart Study. | Freedman BI et al. | β | 2008 | β |
| Genome-wide parametric linkage analyses of 644 bipolar pedigrees suggest susceptibility loci at chromosomes 16 and 20. | Ross J et al. | β | 2008 | β |
| Genome-wide scan and fine-mapping linkage study of androgenetic alopecia reveals a locus on chromosome 3q26. | Hillmer AM et al. | β | 2008 | β |
| Genome-wide scan finds suggestive caries loci. | Vieira AR et al. | β | 2008 | β |
| Genomic determinants of the efficiency of internal ribosomal entry sites of viral and cellular origin. | Kazadi K et al. | β | 2008 | β |
| Glutathione S-transferase variants and hypertension. | Delles C et al. | β | 2008 | β |
| G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. | Pasternack SM et al. | β | 2008 | β |
| Heritability of P. falciparum and P. vivax malaria in a Karen population in Thailand. | Phimpraphi W et al. | β | 2008 | β |
| Heterogeneous association between engrailed-2 and autism in the CPEA network. | Brune CW et al. | β | 2008 | β |
| High-density single nucleotide polymorphism genome-wide linkage scan for susceptibility genes for diabetic nephropathy in type 1 diabetes: discordant sibpair approach. | Rogus JJ et al. | β | 2008 | β |
| HLA class I alleles tag HLA-DRB1*1501 haplotypes for differential risk in multiple sclerosis susceptibility. | Chao MJ 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 and replication of a novel obesity locus on chromosome 1q24 in isolated populations of Cilento. | Ciullo M et al. | β | 2008 | β |
| Identification of a linkage disequilibrium block in chromosome 1q associated with BMD in premenopausal white women. | Ichikawa S et al. | β | 2008 | β |
| Identification of a locus modulating serum C-reactive protein levels on chromosome 5p15. | Keenan HA et al. | β | 2008 | β |
| Identification of a major locus for Paget's disease on chromosome 10p13 in families of British descent. | Lucas GJ et al. | β | 2008 | β |
| Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing. | Neidhardt J et al. | β | 2008 | β |
| IL10 polymorphisms are associated with airflow obstruction in severe alpha1-antitrypsin deficiency. | Demeo DL et al. | β | 2008 | β |
| INS VNTR is not associated with childhood obesity in 1,023 families: a family-based study. | Bouatia-Naji N et al. | β | 2008 | β |
| Interleukin 18 receptor 1 gene polymorphisms are associated with asthma. | Zhu G et al. | β | 2008 | β |
| Investigation of the role of mitochondrial DNA in multiple sclerosis susceptibility. | Ban M et al. | β | 2008 | β |
| In vitro whole-genome analysis identifies a susceptibility locus for HIV-1. | Loeuillet C et al. | β | 2008 | β |
| Lack of association between genetic variation in G-protein-coupled receptor for asthma susceptibility and childhood asthma and atopy. | Wu H et al. | β | 2008 | β |
| Linkage analysis in a large family from Pakistan with depression and a high incidence of consanguineous marriages. | Ayub M et al. | β | 2008 | β |
| Linkage analysis of attention deficit hyperactivity disorder. | Faraone SV et al. | β | 2008 | β |
| Linkage and association study of late-onset Alzheimer disease families linked to 9p21.3. | ZΓΌchner S et al. | β | 2008 | β |
| Linkage disequilibrium patterns and functional analysis of RGS4 polymorphisms in relation to schizophrenia. | Chowdari KV et al. | β | 2008 | β |
| Linkage of nicotine dependence and smoking behavior on 10q, 7q and 11p in twins with homogeneous genetic background. | Loukola A et al. | β | 2008 | β |
| Linkage to chromosome 1p36 for attention-deficit/hyperactivity disorder traits in school and home settings. | Zhou K et al. | β | 2008 | β |
| Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity. | Jalali A et al. | β | 2008 | β |
| Linkage validation of RP25 Using the 10K genechip array and further refinement of the locus by new linked families. | BarragΓ‘n I et al. | β | 2008 | β |
| Locus homogeneity between syndactyly type 1A and craniosynostosis Philadelphia type? | Jain M et al. | β | 2008 | β |
| Mapping of a new autosomal recessive non-syndromic hearing impairment locus (DFNB45) to chromosome 1q43-q44. | Bhatti A et al. | β | 2008 | β |
| Mapping of a novel susceptibility locus suggests a role for MC3R and CTSZ in human tuberculosis. | Cooke GS et al. | β | 2008 | β |
| Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting. | Goobie S et al. | β | 2008 | β |
| Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. | Frank V et al. | β | 2008 | β |
| Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3. | Kuhl A et al. | β | 2008 | β |
| Myosin IXB gene region and gluten intolerance: linkage to coeliac disease and a putative dermatitis herpetiformis association. | Koskinen LL et al. | β | 2008 | β |
| Neuropeptide Y receptor genes are associated with alcohol dependence, alcohol withdrawal phenotypes, and cocaine dependence. | Wetherill L et al. | β | 2008 | β |
| Neurotransmission and bipolar disorder: a systematic family-based association study. | Shi J et al. | β | 2008 | β |
| Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1. | Stamm DS et al. | β | 2008 | β |
| ORMDL3 gene is associated with asthma in three ethnically diverse populations. | Galanter J et al. | β | 2008 | β |
| PDLIM5 and susceptibility to bipolar disorder: a family-based association study and meta-analysis. | Shi J et al. | β | 2008 | β |
| Polymorphisms in IL12A and cockroach allergy in children with asthma. | Pistiner M et al. | β | 2008 | β |
| Polymorphisms in the CD3Z gene influence TCRzeta expression in systemic lupus erythematosus patients and healthy controls. | Gorman CL et al. | β | 2008 | β |
| Polymorphisms in the endothelin-1 (EDN1) are associated with asthma in two populations. | Zhu G et al. | β | 2008 | β |
| Polymorphisms of the tumor necrosis factor-alpha receptor 2 gene are associated with obesity phenotypes among 405 Caucasian nuclear families. | Zhao LJ et al. | β | 2008 | β |
| Population differences in the International Multi-Centre ADHD Gene Project. | Neale BM et al. | β | 2008 | β |
| Posterior probability of linkage analysis of autism dataset identifies linkage to chromosome 16. | Wassink TH et al. | β | 2008 | β |
| Preferential reciprocal transfer of paternal/maternal DLK1 alleles to obese children: first evidence of polar overdominance in humans. | Wermter AK et al. | β | 2008 | β |
| Prospective meta-analysis of interleukin 1 gene complex polymorphisms confirms associations with ankylosing spondylitis. | Sims AM et al. | β | 2008 | β |
| PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption. | Decker E et al. | β | 2008 | β |
| PTPN22 is genetically associated with risk of generalized vitiligo, but CTLA4 is not. | LaBerge GS et al. | β | 2008 | β |
| QTLs of factors of the metabolic syndrome and echocardiographic phenotypes: the hypertension genetic epidemiology network study. | Kraja AT et al. | β | 2008 | β |
| Quantification of the genetic component of basal C-reactive protein expression in SLE nuclear families. | Rhodes B et al. | β | 2008 | β |
| Quantitative trait analysis of type 2 diabetes susceptibility loci identified from whole genome association studies in the Insulin Resistance Atherosclerosis Family Study. | Palmer ND et al. | β | 2008 | β |
| Quantitative trait genetic linkage analysis of body mass index in familial coronary artery disease. | Specchia C et al. | β | 2008 | β |
| RASD2, MYH9, and CACNG2 genes at chromosome 22q12 associated with the subgroup of schizophrenia with non-deficit in sustained attention and executive function. | Liu YL et al. | β | 2008 | β |
| Recessive genetic mode of an ADH4 variant in substance dependence in African-Americans: A model of utility of the HWD test. | Luo X et al. | β | 2008 | β |
| Refinement of 2q and 7p loci in a large multiplex NTD family. | Stamm DS et al. | β | 2008 | β |
| Replication of association between ADAM33 polymorphisms and psoriasis. | Siroux V et al. | β | 2008 | β |
| Replication of linkage on chromosome 7q22 and association of the regional Reelin gene with working memory in schizophrenia families. | Wedenoja J et al. | β | 2008 | β |
| Replication of linkage with bipolar disorder on chromosome 16p in the Eastern Quebec population. | MΓ©rette C et al. | β | 2008 | β |
| Sequence analysis of 21 genes located in the Kartagener syndrome linkage region on chromosome 15q. | Geremek M et al. | β | 2008 | β |
| Sex-stratified linkage analysis identifies a female-specific locus for IgE to cockroach in Costa Ricans. | Hunninghake GM et al. | β | 2008 | β |
| SNP mapping and candidate gene sequencing in the class I region of the HLA complex: searching for multiple sclerosis susceptibility genes in Tasmanians. | Burfoot RK et al. | β | 2008 | β |
| SNPs in dopamine D2 receptor gene (DRD2) and norepinephrine transporter gene (NET) are associated with continuous performance task (CPT) phenotypes in ADHD children and their families. | Kollins SH et al. | β | 2008 | β |
| Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families. | Chishti MS et al. | β | 2008 | β |
| Study of Toll-like receptor gene loci in sarcoidosis. | SchΓΌrmann M et al. | β | 2008 | β |
| Substance dependence low-density whole genome association study in two distinct American populations. | Yu Y et al. | β | 2008 | β |
| Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13. | Kemlink D et al. | β | 2008 | β |
| TCF7L2 is associated with high serum triacylglycerol and differentially expressed in adipose tissue in families with familial combined hyperlipidaemia. | Huertas-Vazquez A et al. | β | 2008 | β |
| The dopamine receptor D4 7-repeat allele and prenatal smoking in ADHD-affected children and their unaffected siblings: no gene-environment interaction. | Altink ME et al. | β | 2008 | β |
| The effect of pedigree structure on detection of deletions and other null alleles. | Johansson AM et al. | β | 2008 | β |
| The FCRL3 -169T>C polymorphism is associated with rheumatoid arthritis and shows suggestive evidence of involvement with juvenile idiopathic arthritis in a Scandinavian panel of autoimmune diseases. | Eike MC et al. | β | 2008 | β |
| The interleukin 23 receptor gene in multiple sclerosis: a case-control study. | Roos IM et al. | β | 2008 | β |
| The MTHFR gene polymorphism is associated with lean body mass but not fat body mass. | Liu X et al. | β | 2008 | β |
| The tachykinin receptor 3 is associated with alcohol and cocaine dependence. | Foroud T et al. | β | 2008 | β |
| Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations. | Rio Frio T et al. | β | 2008 | β |
| Variants in the CD36 gene associate with the metabolic syndrome and high-density lipoprotein cholesterol. | Love-Gregory L et al. | β | 2008 | β |
| WFS1 mutations are frequent monogenic causes of juvenile-onset diabetes mellitus in Lebanon. | Zalloua PA et al. | β | 2008 | β |
| WW-domain-containing oxidoreductase is associated with low plasma HDL-C levels. | Lee JC et al. | β | 2008 | β |
| A bivariate whole-genome linkage scan suggests several shared genomic regions for obesity and osteoporosis. | Tang ZH et al. | β | 2007 | β |
| A comprehensive screen for SNP associations on chromosome region 5q31-33 in Swedish/Norwegian celiac disease families. | Amundsen SS et al. | β | 2007 | β |
| A genetic linkage map of the vervet monkey (Chlorocebus aethiops sabaeus). | Jasinska AJ et al. | β | 2007 | β |
| A genome-wide linkage scan for cleft lip and cleft palate identifies a novel locus on 8p11-23. | Riley BM et al. | β | 2007 | β |
| A genome-wide linkage scan for iron phenotype quantitative trait loci: the HEIRS Family Study. | Acton RT et al. | β | 2007 | β |
| A genome-wide scan in forty large pedigrees with multiple sclerosis. | Willer CJ et al. | β | 2007 | β |
| A genome-wide scan of loci linked to serum adiponectin in two populations of African descent. | Hicks C et al. | β | 2007 | β |
| A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population. | Liu F et al. | β | 2007 | β |
| A genome-wide search for linkage to renal function phenotypes in West Africans with type 2 diabetes. | Chen G et al. | β | 2007 | β |
| A German genome-wide linkage scan for type 2 diabetes supports the existence of a metabolic syndrome locus on chromosome 1p36.13 and a type 2 diabetes locus on chromosome 16p12.2. | Hoffmann K et al. | β | 2007 | β |
| AHSG gene polymorphisms are associated with bone mineral density in Caucasian nuclear families. | Yang YJ et al. | β | 2007 | β |
| A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3. | Uyguner O et al. | β | 2007 | β |
| An extremes of outcome strategy provides evidence that multiple sclerosis severity is determined by alleles at the HLA-DRB1 locus. | DeLuca GC et al. | β | 2007 | β |
| An investigation of the effects of lipid-lowering medications: genome-wide linkage analysis of lipids in the HyperGEN study. | Wu J et al. | β | 2007 | β |
| A novel locus for dementia with Lewy bodies: a clinically and genetically heterogeneous disorder. | Bogaerts V et al. | β | 2007 | β |
| A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24. | Deglincerti A et al. | β | 2007 | β |
| Apoptotic gene analysis in idiopathic talipes equinovarus (clubfoot). | Ester AR et al. | β | 2007 | β |
| A second-generation combined linkage physical map of the human genome. | Matise TC et al. | β | 2007 | β |
| A second major histocompatibility complex susceptibility locus for multiple sclerosis. | Yeo TW et al. | β | 2007 | β |
| Association analysis of the protein phosphatase 1 regulatory subunit 1B (PPP1R1B) gene with nicotine dependence in European- and African-American smokers. | Beuten J et al. | β | 2007 | β |
| Association analysis of vitamin D-binding protein gene polymorphisms with variations of obesity-related traits in Caucasian nuclear families. | Jiang H et al. | β | 2007 | β |
| Association and linkage of allelic variants of the dopamine transporter gene in ADHD. | Friedel S et al. | β | 2007 | β |
| Association of alcohol craving with alpha-synuclein (SNCA). | Foroud T et al. | β | 2007 | β |
| Association of distinct allelic haplotypes of DISC1 with psychotic and bipolar spectrum disorders and with underlying cognitive impairments. | Palo OM et al. | β | 2007 | β |
| Association of haplotypic variants in DRD2, ANKK1, TTC12 and NCAM1 to alcohol dependence in independent case control and family samples. | Yang BZ et al. | β | 2007 | β |
| Association of PTGDR gene polymorphisms with asthma in two Caucasian populations. | Zhu G et al. | β | 2007 | β |
| Association of synapsin 2 with schizophrenia in families of Northern European ancestry. | Saviouk V et al. | β | 2007 | β |
| Association of the estrogen receptor-alpha gene with the metabolic syndrome and its component traits in African-American families: the Insulin Resistance Atherosclerosis Family Study. | Gallagher CJ et al. | β | 2007 | β |
| Association of the peroxisome proliferator-activated receptor gamma gene with type 2 diabetes mellitus varies by physical activity among non-Hispanic whites from Colorado. | Nelson TL et al. | β | 2007 | β |
| Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1. | Beiraghi S et al. | β | 2007 | β |
| Bipolar affective puerperal psychosis: genome-wide significant evidence for linkage to chromosome 16. | Jones I et al. | β | 2007 | β |
| Bivariate whole genome linkage analysis for femoral neck geometric parameters and total body lean mass. | Deng FY et al. | β | 2007 | β |
| Campora: a young genetic isolate in South Italy. | Colonna V et al. | β | 2007 | β |
| Combined genome scans for body stature in 6,602 European twins: evidence for common Caucasian loci. | Perola M et al. | β | 2007 | β |
| Combining linkage data sets for meta-analysis and mega-analysis: the GAW15 rheumatoid arthritis data set. | Segurado R et al. | β | 2007 | β |
| Compelling evidence that a single nucleotide substitution in TYRP1 is responsible for coat-colour polymorphism in a free-living population of Soay sheep. | Gratten J et al. | β | 2007 | β |
| Comprehensive testing of positionally cloned asthma genes in two populations. | Hersh CP et al. | β | 2007 | β |
| CRISPLD2: a novel NSCLP candidate gene. | Chiquet BT et al. | β | 2007 | β |
| Eosinophil cationic protein (ECP) polymorphisms and association with asthma, s-ECP levels and related phenotypes. | Munthe-Kaas MC et al. | β | 2007 | β |
| Epistatic interactions between genomic regions containing the COL1A1 gene and genes regulating osteoclast differentiation may influence femoral neck bone mineral density. | Yang TL et al. | β | 2007 | β |
| Error detection in SNP data by considering the likelihood of recombinational history implied by three-site combinations. | Toleno DM et al. | β | 2007 | β |
| Evaluation of fetal and maternal genetic variation in the progesterone receptor gene for contributions to preterm birth. | Ehn NL 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 gene x smoking exposure interactions in a genome-wide linkage screen of asthma and bronchial hyper-responsiveness in EGEA families. | Dizier MH et al. | β | 2007 | β |
| Evidence for two susceptibility loci on chromosomes 22q12 and 6p21-p22 in Chinese generalized vitiligo families. | Liang Y et al. | β | 2007 | β |
| Gender-specific association of a functional coding polymorphism in the Neuropeptide S receptor gene with panic disorder but not with schizophrenia or attention-deficit/hyperactivity disorder. | Okamura N et al. | β | 2007 | β |
| Genes at human chromosome 5q31.1 regulate delayed-type hypersensitivity responses associated with Leishmania chagasi infection. | Jeronimo SM et al. | β | 2007 | β |
| Genetic association analysis of inositol polyphosphate phosphatase-like 1 (INPPL1, SHIP2) variants with essential hypertension. | MarΓ§ano AC et al. | β | 2007 | β |
| Genetic component of identification, intensity and pleasantness of odours: a Finnish family study. | Knaapila A et al. | β | 2007 | β |
| Genetic determination in onset age of wrist fracture. | Xiong D et al. | β | 2007 | β |
| Genetic liability to schizophrenia in Oceanic Palau: a search in the affected and maternal generation. | Devlin B et al. | β | 2007 | β |
| Genetic linkage to chromosome 22q12 for a heavy-smoking quantitative trait in two independent samples. | Saccone SF et al. | β | 2007 | β |
| Genetic study of the melanin-concentrating hormone receptor 2 in childhood and adulthood severe obesity. | Ghoussaini M et al. | β | 2007 | β |
| Genetic variation in S-nitrosoglutathione reductase (GSNOR) and childhood asthma. | Wu H et al. | β | 2007 | β |
| Genomewide high-density SNP linkage analysis of non-BRCA1/2 breast cancer families identifies various candidate regions and has greater power than microsatellite studies. | Gonzalez-Neira A et al. | β | 2007 | β |
| Genome-wide linkage analysis of malaria infection intensity and mild disease. | Timmann C et al. | β | 2007 | β |
| Genome-wide linkage scan for breast cancer susceptibility loci in Swedish hereditary non-BRCA1/2 families: suggestive linkage to 10q23.32-q25.3. | Bergman A et al. | β | 2007 | β |
| Genome-wide linkage scan of a large family with IgA nephropathy localizes a novel susceptibility locus to chromosome 2q36. | Paterson AD et al. | β | 2007 | β |
| Genome-wide linkage scan of prostate cancer Gleason score and confirmation of chromosome 19q. | Schaid DJ et al. | β | 2007 | β |
| Genome-wide mapping of modifier chromosomal loci for human hypertrophic cardiomyopathy. | Daw EW et al. | β | 2007 | β |
| Genome-wide scan for adiposity-related phenotypes in adults from American Samoa. | Dai F et al. | β | 2007 | β |
| Genome-wide search for susceptibility genes to type 2 diabetes in West Africans: potential role of C-peptide. | Chen G et al. | β | 2007 | β |
| Genomic scan of 12 hereditary prostate cancer families having an occurrence of pancreas cancer. | Pierce BL et al. | β | 2007 | β |
| HTF9C gene of 22q11.21 region associates with schizophrenia having deficit-sustained attention. | Liu YL et al. | β | 2007 | β |
| Identification of two independent risk factors for lupus within the MHC in United Kingdom families. | Fernando MM et al. | β | 2007 | β |
| Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia. | Groenestege WM et al. | β | 2007 | β |
| Insulin gene mutations as a cause of permanent neonatal diabetes. | StΓΈy J et al. | β | 2007 | β |
| Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis. | Gregory SG et al. | β | 2007 | β |
| ITGA4 polymorphisms and susceptibility to multiple sclerosis. | O'Doherty C et al. | β | 2007 | β |
| Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2-Xq28. | Amor DJ et al. | β | 2007 | β |
| Lack of association of alcohol dependence and habitual smoking with catechol-O-methyltransferase. | Foroud T et al. | β | 2007 | β |
| Large-scale linkage analysis of 1302 affected relative pairs with rheumatoid arthritis. | Hamshere ML et al. | β | 2007 | β |
| Linkage analysis of a cluster-based quantitative phenotype constructed from pulmonary function test data in 27 multigenerational families with multiple asthmatic members. | Reilly C et al. | β | 2007 | β |
| Linkage analysis of chromosome 4 in families with familial pancreatic cancer. | Klein AP et al. | β | 2007 | β |
| Linkage and mutational analysis of CLCN2 in childhood absence epilepsy. | Everett K et al. | β | 2007 | β |
| Linkage of Graves' disease to the human leucocyte antigen region in the Chinese-Han population in Taiwan. | Chen PL 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 |
| Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11-q21.32. | Wali A et al. | β | 2007 | β |
| Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations. | Goldberg YP et al. | β | 2007 | β |
| Low-density lipoprotein receptor-related protein 5 (LRP5) gene polymorphisms are associated with bone mass in both Chinese and whites. | Xiong DH et al. | β | 2007 | β |
| Mapping genes that contribute to daunorubicin-induced cytotoxicity. | Duan S et al. | β | 2007 | β |
| Mapping of a gene for alopecia with mental retardation syndrome (APMR3) on chromosome 18q11.2-q12.2. | Wali A et al. | β | 2007 | β |
| More evidence supports the association of PPP3CC with schizophrenia. | Liu YL et al. | β | 2007 | β |
| Multiple sclerosis susceptibility and the X chromosome. | Herrera BM et al. | β | 2007 | β |
| Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. | Orr A et al. | β | 2007 | β |
| No association evidence between schizophrenia and dystrobrevin-binding protein 1 (DTNBP1) in Taiwanese families. | Liu CM et al. | β | 2007 | β |
| No evidence for association between 19 cholinergic genes and bipolar disorder. | Shi J et al. | β | 2007 | β |
| No evidence of linkage between 7q33-36 locus (OTSC2) and otosclerosis in seven British Caucasian pedigrees. | Alzoubi FQ et al. | β | 2007 | β |
| Non-synonymous polymorphisms in melanocortin-4 receptor protect against obesity: the two facets of a Janus obesity gene. | Stutzmann F et al. | β | 2007 | β |
| Novel human pathological mutations. Gene symbol: NF1. Disease: neurofibromatosis 1. | Li SC et al. | β | 2007 | β |
| Partial replication of a DRD4 association in ADHD individuals using a statistically derived quantitative trait for ADHD in a family-based association test. | Lasky-Su J et al. | β | 2007 | β |
| Polymorphisms in IL13, total IgE, eosinophilia, and asthma exacerbations in childhood. | Hunninghake GM et al. | β | 2007 | β |
| Polymorphisms in MICB are associated with human herpes virus seropositivity and schizophrenia risk. | Shirts BH et al. | β | 2007 | β |
| Polymorphisms in the cathepsin L2 (CTSL2) gene show association with type 1 diabetes and early-onset myasthenia gravis. | Viken MK et al. | β | 2007 | β |
| Preliminary evidence for linkage to chromosome 1q31-32, 10q23.3, and 16p13.3 in a South African cohort with bipolar disorder. | Savitz J et al. | β | 2007 | β |
| Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly. | Hassan MJ et al. | β | 2007 | β |
| Putative association of a TLR9 promoter polymorphism with atopic eczema. | Novak N et al. | β | 2007 | β |
| Putative susceptibility locus on chromosome 21q for lumbar disc disease (LDD) in the Finnish population. | Virtanen IM et al. | β | 2007 | β |
| Quantitative trait loci for fasting glucose in young Europeans replicate previous findings for type 2 diabetes in 2q23-24 and other locations. | Fradin D et al. | β | 2007 | β |
| Replication and identification of novel variants at TCF7L2 associated with type 2 diabetes in Hong Kong Chinese. | Ng MC et al. | β | 2007 | β |
| Significant linkage to compulsive hoarding on chromosome 14 in families with obsessive-compulsive disorder: results from the OCD Collaborative Genetics Study. | Samuels J et al. | β | 2007 | β |
| Stage II follow-up on a linkage scan for bipolar disorder in the Ashkenazim provides suggestive evidence for chromosome 12p and the GRIN2B gene. | Avramopoulos D 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 autoimmune disease-associated IL12B and IL23R polymorphisms in multiple sclerosis. | Begovich AB et al. | β | 2007 | β |
| The contribution of the DLG5 113A variant in early-onset inflammatory bowel disease. | Russell RK et al. | β | 2007 | β |
| The impact of BRCA1 on spina bifida meningomyelocele lesions. | King TM et al. | β | 2007 | β |
| The opioid system in alcohol and drug dependence: family-based association study. | Xuei X et al. | β | 2007 | β |
| The PPARgamma Pro12Ala polymorphism is not associated with body mass index or waist circumference among Hispanics from Colorado. | Nelson TL et al. | β | 2007 | β |
| The role of the GABRA2 polymorphism in multiplex alcohol dependence families with minimal comorbidity: within-family association and linkage analyses. | Matthews AG et al. | β | 2007 | β |
| The SERPINE2 gene is associated with chronic obstructive pulmonary disease in two large populations. | Zhu G et al. | β | 2007 | β |
| The uncoupling protein 1 gene, UCP1, is expressed in mammalian islet cells and associated with acute insulin response to glucose in African American families from the IRAS Family Study. | Sale MM et al. | β | 2007 | β |
| Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction. | Ebermann I et al. | β | 2007 | β |
| USF1 contributes to high serum lipid levels in Dutch FCHL families and U.S. whites with coronary artery disease. | Lee JC et al. | β | 2007 | β |
| Validation of a short tandem repeat multiplex typing system for genetic individualization of domestic cat samples. | Coomber N et al. | β | 2007 | β |
| Variants in scavenger receptor class B type I gene are associated with HDL cholesterol levels in younger women. | Roberts CG et al. | β | 2007 | β |
| Variations in RANK gene are associated with adult height in Caucasians. | Chen Y et al. | β | 2007 | β |
| Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio. | Ting JC et al. | β | 2007 | β |
| Y chromosome lineage- and village-specific genes on chromosomes 1p22 and 6q27 control visceral leishmaniasis in Sudan. | Miller EN et al. | β | 2007 | β |