| Identification of rare genetic variants in novel loci associated with Paget’s disease of bone |
|
|
|
|
|
|
|
|
|
| Engineered chromosome-based genetic mapping establishes a 3.7 Mb critical genomic region for Down syndrome-associated heart defects in mice |
|
|
|
|
|
|
|
|
|
| Santi Rozario: Genetic disorders and Islamic identity among British Bangladeshis |
|
|
|
|
|
|
|
|
|
| Case–control association study of polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B and epilepsy |
|
|
|
|
|
|
|
|
|
| De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis |
|
|
|
|
|
|
|
|
|
| Improving genetic risk prediction by leveraging pleiotropy |
|
|
|
|
|
|
|
|
|
| Identification of BACH2 as a susceptibility gene for Graves’ disease in the Chinese Han population based on a three-stage genome-wide association study |
|
|
|
|
|
|
|
|
|
| X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome |
|
|
|
|
|
|
|
|
|
| The emergence of the mitochondrial genome as a partial regulator of nuclear function is providing new insights into the genetic mechanisms underlying age-related complex disease |
|
|
|
|
|
|
|
|
|
| Exploring the genetic architecture of alcohol dependence in African-Americans via analysis of a genomewide set of common variants |
|
|
|
|
|
|
|
|
|
| Erratum to: A genome-wide association study of prostate cancer in West African men |
|
|
|
|
|
|
|
|
|
| COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina |
|
|
|
|
|
|
|
|
|
| Natural and orthogonal model for estimating gene–gene interactions applied to cutaneous melanoma |
|
|
|
|
|
|
|
|
|
| Gene–gene and gene–environment interactions in ulcerative colitis |
|
|
|
|
|
|
|
|
|
| Significant associations of CHRNA2 and CHRNA6 with nicotine dependence in European American and African American populations |
|
|
|
|
✓ |
|
|
|
European American |
| Common DNA variants predict tall stature in Europeans |
|
|
|
|
✓ |
|
|
|
Europeans |
| MicroRNA-related sequence variations in human cancers |
|
|
|
|
|
|
|
|
|
| Molecular genetic epidemiology of human diseases: from patterns to predictions |
|
|
|
|
|
|
|
|
|
| Comparative-high resolution melting: a novel method of simultaneous screening for small mutations and copy number variations |
|
|
|
|
|
|
|
|
|
| A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer |
|
|
|
|
|
|
|
|
|
| Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA |
|
|
|
|
|
|
|
|
|
| BRG1 variant rs1122608 on chromosome 19p13.2 confers protection against stroke and regulates expression of pre-mRNA-splicing factor SFRS3 |
|
|
|
|
|
|
|
|
|
| A genome-wide association study of prostate cancer in West African men |
|
|
|
|
|
|
|
|
|
| C5orf42 is the major gene responsible for OFD syndrome type VI |
|
|
|
|
|
|
|
|
|
| Association of the HTR2A gene with alcohol and heroin abuse |
|
|
|
|
|
|
|
|
|
| An historical perspective on “The world-wide distribution of allele frequencies at the human dopamine D4 receptor locus” |
|
|
|
|
|
|
|
|
|
| Association analysis of 9,560 prostate cancer cases from the International Consortium of Prostate Cancer Genetics confirms the role of reported prostate cancer associated SNPs for familial disease |
|
|
|
|
|
|
|
|
|
| Male-specific genetic effect on hypertension and metabolic disorders |
|
|
|
|
|
|
|
|
|
| High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith–Wiedemann syndrome |
|
|
|
|
|
|
|
|
|
| Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements |
|
|
|
|
|
|
|
|
|
| Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form |
|
|
|
|
|
|
|
|
|
| Genomics meets proteomics: identifying the culprits in disease |
|
|
|
|
|
|
|
|
|
| Genome-wide methylation profiling of ADPKD identified epigenetically regulated genes associated with renal cyst development |
|
|
|
|
|
|
|
|
|
| Bayes’ rule, medical genetics and the wider world. A review of: the theory that would not die. How Bayes’ rule cracked the Enigma code, hunted down Russian submarines, and emerged triumphant from two |
|
|
|
|
|
|
|
|
|
| Genome-wide association study of endometrial cancer in E2C2 |
|
|
|
|
|
|
|
|
|
| On individual genome-wide association studies and their meta-analysis |
|
|
|
|
|
|
|
|
|
| A genome-wide association study of severe teenage acne in European Americans |
|
|
|
|
✓ |
|
|
|
European Americans |
| Network-assisted analysis to prioritize GWAS results: principles, methods and perspectives |
|
|
|
|
|
|
|
|
|
| Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia |
✓ |
|
|
|
|
|
|
|
|
| Cancer genomics identifies disrupted epigenetic genes |
|
|
|
|
|
|
|
|
|
| Establishing a reference group for distal 18q-: clinical description and molecular basis |
|
|
|
|
|
|
|
|
|
| A hemizygous GYG2 mutation and Leigh syndrome: a possible link? |
|
|
|
|
|
|
|
|
|
| No evidence of interaction between known lipid-associated genetic variants and smoking in the multi-ethnic PAGE population |
|
|
|
|
|
|
|
|
|
| Genetic risk score analysis indicates migraine with and without comorbid depression are genetically different disorders |
|
|
|
|
|
|
|
|
|
| Association of functional polymorphisms in the MxA gene with susceptibility to enterovirus 71 infection |
|
|
|
|
|
|
|
|
|
| Microarrays as a diagnostic tool in prenatal screening strategies: ethical reflection |
|
|
|
|
|
|
|
|
|
| The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine |
|
|
|
|
|
|
|
|
|
| Unraveling the complex genetic model for cystic fibrosis: pleiotropic effects of modifier genes on early cystic fibrosis-related morbidities |
|
|
|
|
|
|
|
|
|
| A unified GMDR method for detecting gene–gene interactions in family and unrelated samples with application to nicotine dependence |
|
|
|
|
|
|
|
|
|
| Erratum to: The success of pharmacogenomics in moving genetic association studies from bench to bedside: study design and implementation of precision medicine in the post-GWAS era |
|
|
|
|
|
|
|
|
|
| WNT10A variants are associated with non-syndromic tooth agenesis in the general population |
|
|
|
|
|
|
|
|
|
| Genetic testing and genetic counseling among medicaid-enrolled children with autism spectrum disorder in 2001 and 2007 |
|
|
|
|
|
|
|
|
|
| Genetic interactions found between calcium channel genes modulate amyloid load measured by positron emission tomography |
|
|
|
|
|
|
|
|
|
| A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects |
|
|
|
|
|
|
|
|
|
| Genome-wide association study and meta-analysis of intraocular pressure |
|
|
|
|
|
|
|
|
|
| Comprehensive analysis of the transcriptional landscape of the human FMR1 gene reveals two new long noncoding RNAs differentially expressed in Fragile X syndrome and Fragile X-associated tremor/ataxia |
|
|
|
|
|
|
|
|
|
| Haptoglobin (HP) and Haptoglobin-related protein (HPR) copy number variation, natural selection, and trypanosomiasis |
|
|
|
|
|
|
|
|
|
| The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation |
|
|
|
|
|
|
|
|
|
| The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease |
|
|
|
|
|
|
|
|
|
| A novel method for identifying nonlinear gene–environment interactions in case–control association studies |
|
|
|
|
|
|
|
|
|
| Early medical genetics in Soviet Russia: its growth and destruction |
|
|
|
|
|
|
|
|
|
| HLA-DPB1*04:01 allele is associated with non-obstructive azoospermia in Japanese patients |
|
|
|
|
|
|
✓ |
|
Japanese patients |
| Genetics of healthy aging and longevity |
|
|
|
|
|
|
|
|
|
| Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene |
|
|
|
|
|
|
|
|
|
| A functional variant of pre-miRNA-196a2 confers risk for Behcet’s disease but not for Vogt–Koyanagi–Harada syndrome or AAU in ankylosing spondylitis |
|
|
|
|
|
|
|
|
|
| The application of next-generation sequencing in the autozygosity mapping of human recessive diseases |
|
|
|
|
|
|
|
|
|
| Gene–smoking interactions in multiple Rho-GTPase pathway genes in an early-onset coronary artery disease cohort |
|
|
|
|
|
|
|
|
|
| Variants in BET1L and TNRC6B associate with increasing fibroid volume and fibroid type among European Americans |
|
|
|
|
✓ |
|
|
|
European Americans |
| Erratum to: A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome |
|
|
|
|
|
|
|
|
|
| How meaningful are heritability estimates of liability? |
|
|
|
|
|
|
|
|
|
| Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes |
|
|
|
|
|
|
|
|
|
| A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome |
|
|
|
|
|
|
|
|
|
| Impact of Hardy–Weinberg disequilibrium on post-imputation quality control |
|
|
|
|
|
|
|
|
|
| Detecting genomic clustering of risk variants from sequence data: cases versus controls |
|
|
|
|
|
|
|
|
|
| Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression |
|
|
|
|
|
|
|
|
|
| Common genetic variants associated with lipid profiles in a Chinese pediatric population |
|
|
|
|
|
|
|
|
|
| Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease |
|
|
|
|
|
|
|
|
|
| Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond–Blackfan anemia |
|
|
|
|
|
|
|
|
|
| Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family |
|
|
|
|
|
|
|
|
|
| TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations |
|
|
|
|
|
|
|
|
|
| The adaptive variant EDARV370A is associated with straight hair in East Asians |
|
|
|
|
|
|
|
|
|
| MuPIT interactive: webserver for mapping variant positions to annotated, interactive 3D structures |
|
|
|
|
|
|
|
|
|
| The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability |
|
|
|
|
|
|
|
|
|
| Nathaniel Comfort: The science of human perfection, how genes became the heart of American Medicine |
|
|
|
|
|
|
|
|
|
| A novel rearrangement of occludin causes brain calcification and renal dysfunction |
|
|
|
|
|
|
|
|
|
| Parkinson disease loci in the mid-western Amish |
|
|
|
|
|
|
|
|
|
| The new sequencer on the block: comparison of Life Technology’s Proton sequencer to an Illumina HiSeq for whole-exome sequencing |
|
|
|
|
|
|
|
|
|
| Association, interaction, and replication analysis of genes encoding serotonin transporter and 5-HT3 receptor subunits A and B in alcohol dependence |
|
|
|
|
|
|
|
|
|
| Genetic insights into the functional elements of language |
|
|
|
|
|
|
|
|
|
| A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks |
|
|
|
|
|
|
|
|
|
| Responses to booster hepatitis B vaccination are significantly correlated with genotypes of human leukocyte antigen (HLA)-DPB1 in neonatally vaccinated adolescents |
|
|
|
|
|
|
|
|
|
| Genetic epidemiology of cardiometabolic risk factors and their clustering patterns in Mexican American children and adolescents: the SAFARI Study |
|
|
|
|
|
|
✓ |
|
Mexican American |
| Victor McKusick and the history of medical genetics |
|
|
|
|
|
|
|
|
|
| Genetic variants in the JAK1 gene confer higher risk of Behcet’s disease with ocular involvement in Han Chinese |
|
|
|
|
|
|
✓ |
|
Han Chinese |
| Replication and fine mapping of asthma-associated loci in individuals of African ancestry |
|
|
|
|
|
|
|
|
|
| Epigenomic association analysis identifies smoking-related DNA methylation sites in African Americans |
|
|
|
|
|
|
|
|
|
| Role of TRAV locus in low caries experience |
|
|
|
|
|
|
|
|
|
| Gene fusions by chromothripsis of chromosome 5q in the VCaP prostate cancer cell line |
|
|
|
|
|
|
|
|
|
| The origin and impact of embryonic aneuploidy |
|
|
|
|
|
|
|
|
|
| Patterns of nucleotide and haplotype diversity at ICAM-1 across global human populations with varying levels of malaria exposure |
|
|
|
|
|
|
|
|
|
| Erratum to: Identity-by-descent-based heritability analysis in the Northern Finland Birth Cohort |
|
|
|
|
|
|
|
|
|
| BET1L and TNRC6B associate with uterine fibroid risk among European Americans |
|
|
|
|
✓ |
|
|
|
European Americans |
| Maternal coding variants in complement receptor 1 and spontaneous idiopathic preterm birth |
|
|
|
|
|
|
|
|
|
| Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes |
|
|
|
|
|
|
|
|
|
| Erratum to: Sex- and age-dependent DNA methylation at the 17q12-q21 locus associated with childhood asthma |
|
|
|
|
|
|
|
|
|
| Exome sequencing reveals CCDC111 mutation associated with high myopia |
|
|
|
|
|
|
|
|
|
| Comprehensively identifying and characterizing the missing gene sequences in human reference genome with integrated analytic approaches |
|
|
|
|
|
|
|
|
|
| Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome |
|
|
|
|
|
|
|
|
|
| At what rate do new premutation alleles arise at the fragile X locus? |
|
|
|
|
|
|
|
|
|
| Roger E. Stevenson, Charles E. Schwartz, and R. Curtis Rogers: Atlas of X-linked intellectual disability syndromes, 2nd edition |
|
|
|
|
|
|
|
|
|
| Sex- and age-dependent DNA methylation at the 17q12-q21 locus associated with childhood asthma |
|
|
|
|
|
|
|
|
|
| The complex genetic landscape of familial breast cancer |
|
|
|
|
|
|
|
|
|
| Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy |
|
|
|
|
|
|
|
|
|
| Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis |
|
|
|
|
|
|
|
|
|
| Replication of genetic loci for sarcoidosis in US black women: data from the Black Women’s Health Study |
|
|
|
|
|
|
|
|
|
| Obesity-related genetic variants, human pigmentation, and risk of melanoma |
|
|
|
|
|
|
|
|
|
| Genome-wide scan revealed that polymorphisms in the PNPLA3, SAMM50, and PARVB genes are associated with development and progression of nonalcoholic fatty liver disease in Japan |
|
|
|
|
|
|
|
|
|
| Telling genes: the story of genetic counseling in America |
|
|
|
|
|
|
|
|
|
| Next-generation sequencing diagnostics for neurological diseases/disorders: from a clinical perspective |
|
|
|
|
|
|
|
|
|
| Confirming genes influencing risk to cleft lip with/without cleft palate in a case–parent trio study |
|
|
|
|
|
|
|
|
|
| Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes |
|
|
|
|
|
|
|
|
|
| Hunting human disease genes: lessons from the past, challenges for the future |
|
|
|
|
|
|
|
|
|
| Recursive organizer (ROR): an analytic framework for sequence-based association analysis |
|
|
|
|
|
|
|
|
|
| Silencing human genetic diseases with oligonucleotide-based therapies |
|
|
|
|
|
|
|
|
|
| Identification of genetic variation that determines human trehalase activity and its association with type 2 diabetes |
|
|
|
|
|
|
|
|
|
| Association between common alcohol dehydrogenase gene (ADH) variants and schizophrenia and autism |
|
|
|
|
|
|
|
|
|
| Genome-wide association study in Han Chinese identifies three novel loci for human height |
|
|
|
|
|
|
|
|
|
| Association of polymorphisms in the Chr18q11.2 locus with tuberculosis in Chinese population |
|
|
|
|
|
|
✓ |
|
Chinese population |
| Combined analysis of genome-wide-linked susceptibility loci to Kawasaki disease in Han Chinese |
|
|
|
|
|
|
✓ |
|
Han Chinese |
| Extended genetic effects of ADH cluster genes on the risk of alcohol dependence: from GWAS to replication |
|
|
|
|
|
|
|
|
|
| A miR-570 binding site polymorphism in the B7-H1 gene is associated with the risk of gastric adenocarcinoma |
|
|
|
|
|
|
|
|
|
| Genetic variants at 4q21, 4q23 and 12q24 are associated with esophageal squamous cell carcinoma risk in a Chinese population |
|
|
|
|
|
|
|
|
|
| Genetic variants of complement genes Ficolin-2, Mannose-binding lectin and Complement factor H are associated with leprosy in Han Chinese from Southwest China |
|
|
|
|
|
|
✓ |
|
Han Chinese |
| Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin |
|
|
|
|
|
|
|
|
|
| RET and NRG1 interplay in Hirschsprung disease |
|
|
|
|
|
|
|
|
|
| Hierarchical modeling identifies novel lung cancer susceptibility variants in inflammation pathways among 10,140 cases and 11,012 controls |
|
|
|
|
|
|
|
|
|
| Genetic syndromes caused by mutations in epigenetic genes |
|
|
|
|
|
|
|
|
|
| Human loci involved in drug biotransformation: worldwide genetic variation, population structure, and pharmacogenetic implications |
|
|
|
|
|
|
|
|
|
| Imputation across genotyping arrays for genome-wide association studies: assessment of bias and a correction strategy |
|
|
|
|
|
|
|
|
|
| Systematic identification of interaction effects between genome- and environment-wide associations in type 2 diabetes mellitus |
|
|
|
|
|
|
|
|
|
| Functional polymorphisms in NFκB1/IκBα predict risks of chronic obstructive pulmonary disease and lung cancer in Chinese |
|
|
|
|
|
|
✓ |
|
Chinese |
| Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita |
|
|
|
|
|
|
|
|
|
| Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients |
|
|
|
|
|
|
|
|
|
| Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate |
|
|
|
|
|
|
|
|
|
| Genetic variants associated with breast cancer risk for Ashkenazi Jewish women with strong family histories but no identifiable BRCA1/2 mutation |
|
|
|
|
|
|
✓ |
|
Ashkenazi Jewish women |
| Genetic determinants of mortality. Can findings from genome-wide association studies explain variation in human mortality? |
|
|
|
|
|
|
|
|
|
| Increased paternal age and the influence on burden of genomic copy number variation in the general population |
|
|
|
|
|
|
|
|
|
| Dissecting direct and indirect genetic effects on chronic obstructive pulmonary disease (COPD) susceptibility |
|
|
|
|
|
|
|
|
|