| Principles and methods of in-silico prioritization of non-coding regulatory variants |
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| Correction to: Expanding the genetic heterogeneity of intellectual disability |
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| Genetic variants in microRNA genes and targets associated with cardiovascular disease risk factors in the African-American population |
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| Copy number variation arising from gene conversion on the human Y chromosome |
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| Authorization of tissues from deceased patients for genetic research |
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| 3C-PCR: a novel proximity ligation-based approach to phase chromosomal rearrangement breakpoints with distal allelic variants |
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| Pleiotropy of cardiometabolic syndrome with obesity-related anthropometric traits determined using empirically derived kinships from the Busselton Health Study |
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| The ubiquity of pleiotropy in human disease |
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| Actionable secondary findings from whole-genome sequencing of 954 East Asians |
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| A functional strategy to characterize expression Quantitative Trait Loci |
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| Mutations of PTPN23 in developmental and epileptic encephalopathy |
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| Creation of miniature pig model of human Waardenburg syndrome type 2A by ENU mutagenesis |
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| Additive-effect pattern of both ZP2 and ZP3 in human and mouse |
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| World-wide distributions of lactase persistence alleles and the complex effects of recombination and selection |
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| ZP2 heterozygous mutation in an infertile woman |
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| Expanding the spectrum of germline variants in cancer |
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| Erratum to: A multi-stage genome-wide association study of uterine fibroids in African Americans |
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| Expanding the genetic heterogeneity of intellectual disability |
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| Genome-wide compound heterozygote analysis highlights alleles associated with adult height in Europeans |
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Europeans |
| ADAR RNA editing in human disease; more to it than meets the I |
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| From mechanisms to therapy: RNA processing’s impact on human genetics |
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| Enrichment of putatively damaging rare variants in the DYX2 locus and the reading-related genes CCDC136 and FLNC |
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| Recent advances in assays for the fragile X-related disorders |
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| A gene-based test of association through an orthogonal decomposition of genotype scores |
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| A genetic variant in the placenta-derived MHC class I chain-related gene A increases the risk of preterm birth in a Chinese population |
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| SMN regulation in SMA and in response to stress: new paradigms and therapeutic possibilities |
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| A multi-stage genome-wide association study of uterine fibroids in African Americans |
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European American women; African American; Black; European American |
| MtDNA genomes reveal a relaxation of selective constraints in low-BMI individuals in a Uyghur population |
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| Investigating the genetic relationship between Alzheimer’s disease and cancer using GWAS summary statistics |
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| Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas |
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| Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth |
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| Genetic mutations in RNA-binding proteins and their roles in ALS |
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| A genetic risk score is differentially associated with migraine with and without aura |
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| The activity of the serotonin receptor 2C is regulated by alternative splicing |
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| Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features |
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| A cis-eQTL genetic variant of the cancer–testis gene CCDC116 is associated with risk of multiple cancers |
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| Dosage effects of ZP2 and ZP3 heterozygous mutations cause human infertility |
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| Regulatory element-based prediction identifies new susceptibility regulatory variants for osteoporosis |
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| Analysis of case-parent trios for imprinting effect using a loglinear model with adjustment for sex-of-parent-specific transmission ratio distortion |
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| Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma |
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| The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes |
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| Normal and altered pre-mRNA processing in the DMD gene |
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| RNA processing as an alternative route to attack glioblastoma |
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| Erratum to: Global skin colour prediction from DNA |
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| Comprehensive evaluation of disease- and trait-specific enrichment for eight functional elements among GWAS-identified variants |
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| A distal auxiliary element facilitates cleavage and polyadenylation of Dux4 mRNA in the pathogenic haplotype of FSHD |
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| A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness |
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| Assessing the causal relationship between obesity and venous thromboembolism through a Mendelian Randomization study |
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| An innovative strategy to clone positive modifier genes of defects caused by mtDNA mutations: MRPS18C as suppressor gene of m.3946G>A mutation in MT-ND1 gene |
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| CRISPR/Cas9-mediated somatic and germline gene correction to restore hemostasis in hemophilia B mice |
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| Somatic mosaicism with reversion to normality of a mutated transthyretin allele related to a familial amyloidotic polyneuropathy |
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| Global skin colour prediction from DNA |
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| Deep intronic mutations and human disease |
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| Protein sequestration as a normal function of long noncoding RNAs and a pathogenic mechanism of RNAs containing nucleotide repeat expansions |
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| Spermatogenic failure and the Y chromosome |
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| Past successes and future opportunities for the genetics of the human Y chromosome |
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| Toward a consensus on SNP and STR mutation rates on the human Y-chromosome |
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| Y-chromosomal sequences of diverse Indian populations and the ancestry of the Andamanese |
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| A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism |
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| Faulty RNA splicing: consequences and therapeutic opportunities in brain and muscle disorders |
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| Loss of chromosome Y (LOY) in blood cells is associated with increased risk for disease and mortality in aging men |
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| Estimating the prevalence of functional exonic splice regulatory information |
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| The role of RNA alternative splicing in regulating cancer metabolism |
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| Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability |
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| Analysis of implantation and ongoing pregnancy rates following the transfer of mosaic diploid–aneuploid blastocysts |
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| Trans-ethnic fine-mapping of genetic loci for body mass index in the diverse ancestral populations of the Population Architecture using Genomics and Epidemiology (PAGE) Study reveals evidence for mult |
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| Intron retention as a component of regulated gene expression programs |
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| regSNPs-splicing: a tool for prioritizing synonymous single-nucleotide substitution |
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| M.T. Dorak: Genetic association studies: background, conduct, analysis, interpretation |
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| Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions |
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| RNA splicing and splicing regulator changes in prostate cancer pathology |
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| Sequential recruitment of study participants may inflate genetic heritability estimates |
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| Human Y chromosome copy number variation in the next generation sequencing era and beyond |
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| Alternative splicing: the pledge, the turn, and the prestige |
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| A genome-wide study of Hardy–Weinberg equilibrium with next generation sequence data |
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| Modulation of aberrant splicing in human RNA diseases by chemical compounds |
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| The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies |
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| Detecting past male-mediated expansions using the Y chromosome |
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| Genetic associations with lipoprotein subfraction measures differ by ethnicity in the multi-ethnic study of atherosclerosis (MESA) |
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ethnicity, multi-ethnic |
| Common genetic etiology between “multiple sclerosis-like” single-gene disorders and familial multiple sclerosis |
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| Erratum to: 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 |
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| Rare SLC1A1 variants in hot water epilepsy |
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| Forensic use of Y-chromosome DNA: a general overview |
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| Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia |
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| Y chromosome palindromes and gene conversion |
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| Genome-wide associations of CD46 and IFI44L genetic variants with neutralizing antibody response to measles vaccine |
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| Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU |
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| Genetic differentiation between upland and lowland populations shapes the Y-chromosomal landscape of West Asia |
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| The study of human Y chromosome variation through ancient DNA |
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| The Y chromosomes of the great apes |
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| Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features |
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| Integrative multi-omics analysis revealed SNP-lncRNA-mRNA (SLM) networks in human peripheral blood mononuclear cells |
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| Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency |
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| Emerging genotype–phenotype relationships in patients with large NF1 deletions |
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| Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants |
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| Confounding effects of microbiome on the susceptibility of TNFSF15 to Crohn’s disease in the Ryukyu Islands |
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| Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies |
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| Novel FAM134B mutations and their clinicopathological significance in colorectal cancer |
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| Erratum to: IL8 gene as modifier of cystic fibrosis: unraveling the factors which influence clinical variability |
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| RETRACTED ARTICLE: Revisiting the male genetic landscape of China: a multi-center study of almost 38,000 Y-STR haplotypes |
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| Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotype |
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| Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes |
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| Association of AHSG with alopecia and mental retardation (APMR) syndrome |
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| Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate |
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