| CDH13 promoter SNPs with pleiotropic effect on cardiometabolic parameters represent methylation QTLs |
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| Genetic and environmental components of family history in type 2 diabetes |
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| Heritability and genome-wide analyses of problematic peer relationships during childhood and adolescence |
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| Genome-wide association study identifies a PSMD3 variant associated with neutropenia in interferon-based therapy for chronic hepatitis C |
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| Erratum to: Empirical characteristics of family-based linkage to a complex trait: the ADIPOQ region and adiponectin levels |
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| Candidate locus analysis of the TERT–CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk |
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| The association of previously reported polymorphisms for microvascular complications in a meta-analysis of diabetic retinopathy |
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| Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland |
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| Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes |
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| A Changing of the Guard at Human Genetics |
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| Empirical characteristics of family-based linkage to a complex trait: the ADIPOQ region and adiponectin levels |
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| Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome |
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| Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? |
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| Loss-of-function mutation in the X-linked TBX22 promoter disrupts an ETS-1 binding site and leads to cleft palate |
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| Effects of enamel matrix genes on dental caries are moderated by fluoride exposures |
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| Rare germline copy number deletions of likely functional importance are implicated in endometrial cancer predisposition |
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| A single codon insertion in the PICALM gene is not associated with subvalvular aortic stenosis in Newfoundland dogs |
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| An argument for mechanism-based statistical inference in cancer |
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| Revisiting heritability accounting for shared environmental effects and maternal inheritance |
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| Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium |
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| NOD2 and CCDC122-LACC1 genes are associated with leprosy susceptibility in Brazilians |
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| Genetic variation of the transthyretin gene in wild-type transthyretin amyloidosis (ATTRwt) |
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| De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum |
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| Incorporating computational resources in a cancer research program |
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| Mitochondrial dysfunction in schizophrenia: an evolutionary perspective |
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| The role of linkage disequilibrium in case-only studies of gene–environment interactions |
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| Testing evolutionary models of senescence: traditional approaches and future directions |
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| DUF1220 copy number is linearly associated with increased cognitive function as measured by total IQ and mathematical aptitude scores |
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| Refinement of schizophrenia GWAS loci using methylome-wide association data |
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| Admixture mapping identifies a locus at 15q21.2–22.3 associated with keloid formation in African Americans |
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✓ |
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African Americans |
| SNP characteristics predict replication success in association studies |
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| A comparison of type 2 diabetes risk allele load between African Americans and European Americans |
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European Americans; African Americans |
| Detection of SQSTM1/P392L post-zygotic mutations in Paget’s disease of bone |
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| STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly |
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| Using drug response data to identify molecular effectors, and molecular “omic” data to identify candidate drugs in cancer |
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| G-quadruplex formation enhances splicing efficiency of PAX9 intron 1 |
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| Progress towards the integration of pharmacogenomics in practice |
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| Whole exome sequence analysis of Peters anomaly |
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| Linking polymorphic p53 response elements with gene expression in airway epithelial cells of smokers and cancer risk |
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| Practical aspects of genome-wide association interaction analysis |
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| Bayesian variable selection for hierarchical gene–environment and gene–gene interactions |
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| Using familial information for variant filtering in high-throughput sequencing studies |
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| Nasal chondromesenchymal hamartomas arise secondary to germline and somatic mutations of DICER1 in the pleuropulmonary blastoma tumor predisposition disorder |
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| Predicting survival in head and neck squamous cell carcinoma from TP53 mutation |
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| Missing heritability of common diseases and treatments outside the protein-coding exome |
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| Genetic polymorphisms associated with rubella virus-specific cellular immunity following MMR vaccination |
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| Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder |
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| Common genetic variation in and near the melanocortin 4 receptor gene (MC4R) is associated with body mass index in American Indian adults and children |
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American Indian |
| Common vitamin D pathway gene variants reveal contrasting effects on serum vitamin D levels in African Americans and European Americans |
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European Americans; African Americans |
| Differentially co-expressed genes in postmortem prefrontal cortex of individuals with alcohol use disorders: influence on alcohol metabolism-related pathways |
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| Improving the power of genetic association tests with imperfect phenotype derived from electronic medical records |
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| Hypothesis-independent pathway analysis implicates GABA and Acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma |
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| De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation |
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| Modifiers of (CAG)n instability in Machado–Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes |
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| Polymorphism of DEFA in Chinese Han population with IgA nephropathy |
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| Characterization of T gene sequence variants and germline duplications in familial and sporadic chordoma |
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| Population and genomic lessons from genetic analysis of two Indian populations |
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| Host genetics and viral load in primary HIV-1 infection: clear evidence for gene by sex interactions |
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| Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing |
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| Next generation modeling in GWAS: comparing different genetic architectures |
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| The population genomic landscape of human genetic structure, admixture history and local adaptation in Peninsular Malaysia |
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| Mitochondrial DNA copy number in peripheral blood cells declines with age and is associated with general health among elderly |
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| Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome |
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| A single codon insertion in PICALM is associated with development of familial subvalvular aortic stenosis in Newfoundland dogs |
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| Human gene copy number variation and infectious disease |
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| HLA alleles associated with the adaptive immune response to smallpox vaccine: a replication study |
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| A genetic association study detects haplotypes associated with obstructive heart defects |
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| Identification of methylation quantitative trait loci (mQTLs) influencing promoter DNA methylation of alcohol dependence risk genes |
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| Validated context-dependent associations of coronary heart disease risk with genotype variation in the chromosome 9p21 region: the Atherosclerosis Risk in Communities study |
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| Opposite effects on facial morphology due to gene dosage sensitivity |
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| CpG methylation regulates allelic expression of GDF5 by modulating binding of SP1 and SP3 repressor proteins to the osteoarthritis susceptibility SNP rs143383 |
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| Amniotic fluid RNA gene expression profiling provides insights into the phenotype of Turner syndrome |
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| Metabolic heritability at birth: implications for chronic disease research |
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| Homozygous truncating PTPRF mutation causes athelia |
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| Application of quantile regression to recent genetic and -omic studies |
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| Determining causality and consequence of expression quantitative trait loci |
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| Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism |
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| Conditions for the validity of SNP-based heritability estimation |
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| Lyle Armstrong: Epigenetics |
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| CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance |
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| Large multiethnic Candidate Gene Study for C-reactive protein levels: identification of a novel association at CD36 in African Americans |
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✓ |
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African Americans |
| Genome-wide association tests of inversions with application to psoriasis |
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| Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family |
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| Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations |
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| The impact of microRNA expression on cellular proliferation |
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| Human Genetics’ 50th Anniversary Issue |
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| Genome-wide association studies identified novel loci for non-high-density lipoprotein cholesterol and its postprandial lipemic response |
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| Association and interaction analyses of 5-HT3 receptor and serotonin transporter genes with alcohol, cocaine, and nicotine dependence using the SAGE data |
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| A human rights approach to an international code of conduct for genomic and clinical data sharing |
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| CUBN and NEBL common variants in the chromosome 10p13 linkage region are associated with multibacillary leprosy in Vietnam |
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| Erratum to: RET and NRG1 interplay in Hirschsprung disease |
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| Characterization of the DYX2 locus on chromosome 6p22 with reading disability, language impairment, and IQ |
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| Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences |
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| NIPA2 mutations are correlative with childhood absence epilepsy in the Han Chinese population |
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Han Chinese population |
| Recollections of a scientific journey published in human genetics: from chromosome territories to interphase cytogenetics and comparative genome hybridization |
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| F. Burkhardt et al. (eds.): The correspondence of Charles Darwin |
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| Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss |
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| Clinical and genomic evaluation of 201 patients with Phelan–McDermid syndrome |
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| Characterization of mitochondrial haplogroups in a large population-based sample from the United States |
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| A novel variant in the 3′ UTR of human SCN1A gene from a patient with Dravet syndrome decreases mRNA stability mediated by GAPDH’s binding |
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| Genome-wide copy number variation study and gene expression analysis identify ABI3BP as a susceptibility gene for Kashin–Beck disease |
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| The genetic basis of pulmonary arterial hypertension |
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| Common variants in genes of the postsynaptic FMRP signalling pathway are risk factors for autism spectrum disorders |
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| Does variation in NIPA2 contribute to genetic generalized epilepsy? |
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| Environmental exposure and mitochondrial epigenetics: study design and analytical challenges |
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| Population-specific differences in gene conversion patterns between human SUZ12 and SUZ12P are indicative of the dynamic nature of interparalog gene conversion |
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| SLC6A4 polymorphism, population genetics, and psychiatric traits |
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| Analysis of coding variants identified from exome sequencing resources for association with diabetic and non-diabetic nephropathy in African Americans |
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| The grammar of transcriptional regulation |
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| Genomics of alternative splicing: evolution, development and pathophysiology |
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