| Gene-based analyses reveal novel genetic overlap and allelic heterogeneity across five major psychiatric disorders |
|
|
|
|
|
|
|
|
|
| The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis |
|
|
|
|
|
|
|
|
|
| Mutations in IL36RN are associated with geographic tongue |
|
|
|
|
|
|
|
|
|
| Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child |
|
|
|
|
|
|
|
|
|
| Copy number variability in Parkinson’s disease: assembling the puzzle through a systems biology approach |
|
|
|
|
|
|
|
|
|
| XCI-escaping gene KDM5C contributes to ovarian development via downregulating miR-320a |
|
|
|
|
|
|
|
|
|
| Regional selection of the brain size regulating gene CASC5 provides new insight into human brain evolution |
|
|
|
|
|
|
|
|
|
| Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract |
|
|
|
|
|
|
|
|
|
| Identifying gene–gene interactions that are highly associated with four quantitative lipid traits across multiple cohorts |
|
|
|
|
|
|
|
|
|
| Recorded interviews with human and medical geneticists |
|
|
|
|
|
|
|
|
|
| Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism |
|
|
|
|
|
|
|
|
|
| A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect |
|
|
|
|
|
|
|
|
|
| KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia |
|
|
|
|
|
|
|
|
|
| Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders |
|
|
|
|
|
|
|
|
|
| Complete mitochondrial genomes of Thai and Lao populations indicate an ancient origin of Austroasiatic groups and demic diffusion in the spread of Tai–Kadai languages |
|
|
|
|
|
|
|
|
|
| The Y chromosome as the most popular marker in genetic genealogy benefits interdisciplinary research |
|
|
|
|
|
|
|
|
|
| CRISPR/Cas9 in zebrafish: an efficient combination for human genetic diseases modeling |
|
|
|
|
|
|
|
|
|
| Genetic factor common to schizophrenia and HIV infection is associated with risky sexual behavior: antagonistic vs. synergistic pleiotropic SNPs enriched for distinctly different biological functions |
|
|
|
|
|
|
|
|
|
| Preferential use of minor codons in the translation initiation region of human genes |
|
|
|
|
|
|
|
|
|
| Tooth agenesis and orofacial clefting: genetic brothers in arms? |
|
|
|
|
|
|
|
|
|
| Atlas of human diseases influenced by genetic variants with extreme allele frequency differences |
|
|
|
|
|
|
|
|
|
| Network analysis of mitonuclear GWAS reveals functional networks and tissue expression profiles of disease-associated genes |
|
|
|
|
|
|
|
|
|
| De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease |
|
|
|
|
|
|
|
|
|
| Associations of cytochrome P450 oxidoreductase genetic polymorphisms with smoking cessation in a Chinese population |
|
|
|
|
|
|
|
|
|
| The disappearing San of southeastern Africa and their genetic affinities |
|
|
|
|
|
|
|
|
|
| A mutation in ADIPOR1 causes nonsyndromic autosomal dominant retinitis pigmentosa |
|
|
|
|
|
|
|
|
|
| Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways |
|
|
|
|
|
|
|
|
|
| Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures |
|
|
|
|
|
|
|
|
|
| Gene therapies that restore dystrophin expression for the treatment of Duchenne muscular dystrophy |
|
|
|
|
|
|
|
|
|
| Multipoint genome-wide linkage scan for nonword repetition in a multigenerational family further supports chromosome 13q as a locus for verbal trait disorders |
|
|
|
|
|
|
|
|
|
| Biomedical applications of gene editing |
|
|
|
|
|
|
|
|
|
| Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype |
|
|
|
|
|
|
|
|
|
| CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly |
|
|
|
|
|
|
|
|
|
| Identification of susceptibility gene associated with female primary Sjögren’s syndrome in Han Chinese by genome-wide association study |
|
|
|
|
|
|
✓ |
|
Han Chinese |
| Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans |
|
|
|
|
|
|
|
|
|
| A 1.35 Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34–q36.2 |
|
|
|
|
|
|
|
|
|
| Genome-wide scans reveal variants at EDAR predominantly affecting hair straightness in Han Chinese and Uyghur populations |
|
|
|
|
|
|
✓ |
|
Han Chinese; Uyghur populations |
| Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans |
|
|
|
|
|
|
|
|
|
| Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations |
|
|
|
|
|
|
|
|
|
| Association of kidney structure-related gene variants with type 2 diabetes-attributed end-stage kidney disease in African Americans |
|
|
|
|
|
|
|
|
|
| The present and future of genome editing in cancer research |
|
|
|
|
|
|
|
|
|
| Genome editing revolutionize the creation of genetically modified pigs for modeling human diseases |
|
|
|
|
|
|
|
|
|
| Three novel missense mutations in the filamin B gene are associated with isolated congenital talipes equinovarus |
|
|
|
|
|
|
|
|
|
| FUS-linked essential tremor associated with motor dysfunction in Drosophila |
|
|
|
|
|
|
|
|
|
| Erratum to: Epigenetic and genetic variation in GATA5 is associated with gastric disease risk |
|
|
|
|
|
|
|
|
|
| A lethal phenotype associated with tissue plasminogen deficiency in humans |
|
|
|
|
|
|
|
|
|
| ANKS3 is mutated in a family with autosomal recessive laterality defect |
|
|
|
|
|
|
|
|
|
| Immunoglobulin G genotypes and the risk of schizophrenia |
|
|
|
|
|
|
|
|
|
| CRISPR: a versatile tool for both forward and reverse genetics research |
|
|
|
|
|
|
|
|
|
| Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith–Magenis syndrome with evident peripheral neuropathy |
|
|
|
|
|
|
|
|
|
| Genetic alterations of δ-catenin/NPRAP/Neurojungin (CTNND2): functional implications in complex human diseases |
|
|
|
|
|
|
|
|
|
| Genetic variants in microRNA and microRNA biogenesis pathway genes and breast cancer risk among women of African ancestry |
|
|
|
|
|
|
✓ |
|
women of African ancestry |
| The genetic history of Cochin Jews from India |
|
|
|
|
|
|
|
|
|
| Whole-genome sequencing in French Canadians from Quebec |
|
|
|
|
|
|
✓ |
|
French Canadians |
| Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2 |
|
|
|
|
|
|
|
|
|
| Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents |
|
|
|
|
|
|
|
|
|
| Genome-editing technologies for gene correction of hemophilia |
|
|
|
|
|
|
|
|
|
| Impact of gene editing on the study of cystic fibrosis |
|
|
|
|
|
|
|
|
|
| Treating hemoglobinopathies using gene-correction approaches: promises and challenges |
|
|
|
|
|
|
|
|
|
| Differential frequency of NKG2C/KLRC2 deletion in distinct African populations and susceptibility to Trachoma: a new method for imputation of KLRC2 genotypes from SNP genotyping data |
|
|
|
|
|
|
|
|
|
| Erratum to: Heritability and genome-wide analyses of problematic peer relationships during childhood and adolescence |
|
|
|
|
|
|
|
|
|
| Genome editing and the next generation of antiviral therapy |
|
|
|
|
|
|
|
|
|
| Erratum to: Hierarchical modeling identifies novel lung cancer susceptibility variants in inflammation pathways among 10,140 cases and 11,012 controls |
|
|
|
|
|
|
|
|
|
| Genome-wide association of familial prostate cancer cases identifies evidence for a rare segregating haplotype at 8q24.21 |
|
|
|
|
|
|
|
|
|
| Use of genome-editing tools to treat sickle cell disease |
|
|
|
|
|
|
|
|
|
| Gene correction in patient-specific iPSCs for therapy development and disease modeling |
|
|
|
|
|
|
|
|
|
| Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome |
|
|
|
|
|
|
|
|
|
| Clinical genomics: from a truly personal genome viewpoint |
|
|
|
|
|
|
|
|
|
| Epigenetic and genetic variation in GATA5 is associated with gastric disease risk |
|
|
|
|
|
|
|
|
|
| De novo RRAGC mutation activates mTORC1 signaling in syndromic fetal dilated cardiomyopathy |
|
|
|
|
|
|
|
|
|
| Discovery of rare variants for complex phenotypes |
|
|
|
|
|
|
|
|
|
| IL8 gene as modifier of cystic fibrosis: unraveling the factors which influence clinical variability |
|
|
|
|
|
|
|
|
|
| The hnRNP family: insights into their role in health and disease |
|
|
|
|
|
|
|
|
|
| Mapping adipose and muscle tissue expression quantitative trait loci in African Americans to identify genes for type 2 diabetes and obesity |
|
|
|
|
|
|
|
|
|
| TALEN gene editing takes aim on HIV |
|
|
|
|
|
|
|
|
|
| The journey of exome sequencing from disease mutations discovery to clinical genomics |
|
|
|
|
|
|
|
|
|
| Regulating whole exome sequencing as a diagnostic test |
|
|
|
|
|
|
|
|
|
| Multivariate eQTL mapping uncovers functional variation on the X-chromosome associated with complex disease traits |
|
|
|
|
|
|
|
|
|
| The expanding phenotypic spectrum of female SLC9A6 mutation carriers: a case series and review of the literature |
|
|
|
|
|
|
|
|
|
| Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients |
|
|
|
|
|
|
|
|
|
| Exploiting aberrant mRNA expression in autism for gene discovery and diagnosis |
|
|
|
|
|
|
|
|
|
| A Clinician’s perspective on clinical exome sequencing |
|
|
|
|
|
|
|
|
|
| Biological findings from the PheWAS catalog: focus on connective tissue-related disorders (pelvic floor dysfunction, abdominal hernia, varicose veins and hemorrhoids) |
|
|
|
|
|
|
|
|
|
| Deciphering intratumor heterogeneity using cancer genome analysis |
|
|
|
|
|
|
|
|
|
| An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability |
|
|
|
|
|
|
|
|
|
| A null mutation in TNIK defines a novel locus for intellectual disability |
|
|
|
|
|
|
|
|
|
| Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy |
|
|
|
|
|
|
|
|
|
| Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins |
|
|
|
|
|
|
|
|
|
| Novel bioinformatic developments for exome sequencing |
|
|
|
|
|
|
|
|
|
| Assessing the genetic architecture of epithelial ovarian cancer histological subtypes |
|
|
|
|
|
|
|
|
|
| Discovery of mutations for Mendelian disorders |
|
|
|
|
|
|
|
|
|
| Polymorphisms in the MTHFR gene influence embryo viability and the incidence of aneuploidy |
|
|
|
|
|
|
|
|
|
| Anchored pseudo-de novo assembly of human genomes identifies extensive sequence variation from unmapped sequence reads |
|
|
|
|
|
|
|
|
|
| FCGR3A and FCGR3B copy number variations are risk factors for sarcoidosis |
|
|
|
|
|
|
|
|
|
| A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition |
|
|
|
|
|
|
|
|
|
| Refining the Y chromosome phylogeny with southern African sequences |
|
|
|
|
|
|
|
|
|
| Erratum to: Quantifying the legacy of the Chinese Neolithic on the maternal genetic heritage of Taiwan and Island Southeast Asia |
|
|
|
|
|
|
|
|
|
| De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features |
|
|
|
|
|
|
|
|
|
| A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer |
|
|
|
|
|
|
|
|
|
| A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60 |
|
|
|
|
|
|
|
|
|
| Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue |
|
|
|
|
|
|
|
|
|
| Amplicon-based semiconductor sequencing of human exomes: performance evaluation and optimization strategies |
|
|
|
|
|
|
|
|
|
| Allele-specific transcription factor binding to common and rare variants associated with disease and gene expression |
|
|
|
|
|
|
|
|
|
| No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients |
|
|
|
|
|
|
|
|
|
| Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss |
|
|
|
|
|
|
|
|
|
| MYBPH acts as modifier of cardiac hypertrophy in hypertrophic cardiomyopathy (HCM) patients |
|
|
|
|
|
|
|
|
|
| Harnessing publicly available genetic data to prioritize lipid modifying therapeutic targets for prevention of coronary heart disease based on dysglycemic risk |
|
|
|
|
|
|
|
|
|
| Gene co-expression analysis identifies brain regions and cell types involved in migraine pathophysiology: a GWAS-based study using the Allen Human Brain Atlas |
|
|
|
|
|
|
|
|
|
| Maximillian Muenke, Paul Kruszka, Craig A. Sable, John W. Belmont (eds): Congenital heart disease molecular genetics, principles of diagnosis and treatment |
|
|
|
|
|
|
|
|
|
| Adaptive evolution of interleukin-3 (IL3), a gene associated with brain volume variation in general human populations |
|
|
|
|
|
|
|
|
|
| Quantifying the legacy of the Chinese Neolithic on the maternal genetic heritage of Taiwan and Island Southeast Asia |
|
|
|
|
|
|
|
|
|
| Wide distribution and altitude correlation of an archaic high-altitude-adaptive EPAS1 haplotype in the Himalayas |
|
|
|
|
|
|
|
|
|
| Blood group antigen loci demonstrate multivariate genetic associations with circulating cellular adhesion protein levels in the Multi-Ethnic Study of Atherosclerosis |
|
|
|
|
|
|
|
|
|
| New molecular insights into modulation of platelet reactivity in aspirin-treated patients using a network-based approach |
|
|
|
|
|
|
|
|
|
| Phenotypic subregions within the split-hand/foot malformation 1 locus |
|
|
|
|
|
|
|
|
|
| Improved prediction of complex diseases by common genetic markers: state of the art and further perspectives |
|
|
|
|
|
|
|
|
|
| Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial |
|
|
|
|
|
|
|
|
|
| Resolving the ancestry of Austronesian-speaking populations |
|
|
|
|
|
|
|
|
|
| A genome-wide association study of pulmonary tuberculosis in Morocco |
|
|
|
|
|
|
|
|
|
| The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis |
|
|
|
|
|
|
|
|
|
| Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome |
|
|
|
|
|
|
|
|
|
| Clinical sequencing: is WGS the better WES? |
|
|
|
|
|
|
|
|
|
| GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder |
|
|
|
|
|
|
|
|
|