| Deciphering the genetic and epidemiological landscape of mitochondrial DNA abundance |
|
|
|
|
|
|
|
|
|
| Correction to: Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia |
|
|
|
|
|
|
|
|
|
| Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes |
|
|
|
|
|
|
|
|
|
| Editorial for the special issue on the molecular genetics of male infertility |
|
|
|
|
|
|
|
|
|
| Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier |
|
|
|
|
|
|
|
|
|
| The relationship between the gut microbiome and host gene expression: a review |
|
|
|
|
|
|
|
|
|
| Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia |
|
|
|
|
|
|
|
|
|
| “Response to the letter to the editor “Concerns regarding the potentially causal role of FANCA heterozygous variants in human primary ovarian insufficiency”” |
|
|
|
|
|
|
|
|
|
| The microbiome, genetics, and gastrointestinal neoplasms: the evolving field of molecular pathological epidemiology to analyze the tumor–immune–microbiome interaction |
|
|
|
|
|
|
|
|
|
| Correction to: Shared genetic architecture between metabolic traits and Alzheimer’s disease: a large-scale genome-wide cross-trait analysis |
|
|
|
|
|
|
|
|
|
| Concerns regarding the potentially causal role of FANCA heterozygous variants in human primary ovarian insufficiency |
|
|
|
|
|
|
|
|
|
| Systematic analysis to identify transcriptome-wide dysregulation of Alzheimer’s disease in genes and isoforms |
|
|
|
|
|
|
|
|
|
| Towards systematic nomenclature for cell-free DNA |
|
|
|
|
|
|
|
|
|
| Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player |
|
|
|
|
|
|
|
|
|
| A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies |
|
|
|
|
|
|
|
|
|
| Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy |
|
|
|
|
|
|
|
|
|
| A study of normal copy number variations in Israeli population |
|
|
|
|
|
|
|
|
|
| Genetic analysis of endometriosis and depression identifies shared loci and implicates causal links with gastric mucosa abnormality |
|
|
|
|
|
|
|
|
|
| The role of the gut microbiome in graft fibrosis after pediatric liver transplantation |
|
|
|
|
|
|
|
|
|
| Resolving misalignment interference for NGS-based clinical diagnostics |
|
|
|
|
|
|
|
|
|
| Severe DNM1 encephalopathy with dysmyelination due to recurrent splice site pathogenic variant |
|
|
|
|
|
|
|
|
|
| Genome-wide landscape establishes novel association signals for metabolic traits in the Arab population |
|
|
|
|
|
|
|
|
|
| Beyond medically actionable results: an analytical pipeline for decreasing the burden of returning all clinically significant secondary findings |
|
|
|
|
|
|
|
|
|
| Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon |
|
|
|
|
|
|
|
|
|
| Gut microbiota in inflammatory bowel diseases: moving from basic science to clinical applications |
|
|
|
|
|
|
|
|
|
| Special issue on “Feto-Maternal Genomic Medicine”: a decade of incredible advances |
|
|
|
|
|
|
|
|
|
| The shared genetic architecture of schizophrenia, bipolar disorder and lifespan |
|
|
|
|
|
|
|
|
|
| Systematic identification of genetic systems associated with phenotypes in patients with rare genomic copy number variations |
|
|
|
|
|
|
|
|
|
| Genetic evidence suggests a sense of family, parity and conquest in the Xiongnu Iron Age nomads of Mongolia |
|
|
|
|
|
|
|
|
|
| Genomic, transcriptomic, and protein landscape profile of CFTR and cystic fibrosis |
|
|
|
|
|
|
|
|
|
| Identifying adaptive alleles in the human genome: from selection mapping to functional validation |
|
|
|
|
|
|
|
|
|
| Deciphering the complexity of simple chromosomal insertions by genome sequencing |
|
|
|
|
|
|
|
|
|
| Overview of PAX gene family: analysis of human tissue-specific variant expression and involvement in human disease |
|
|
|
|
|
|
|
|
|
| Disclosure of secondary findings in exome sequencing of 2480 Japanese cancer patients |
|
|
|
|
|
|
|
|
|
| Compound heterozygous mutation of the ASXL3 gene causes autosomal recessive congenital heart disease |
|
|
|
|
|
|
|
|
|
| Population genetics: past, present, and future |
|
|
|
|
|
|
|
|
|
| A pooled genome-wide association study identifies pancreatic cancer susceptibility loci on chromosome 19p12 and 19p13.3 in the full-Jewish population |
|
|
|
|
|
|
✓ |
|
full-Jewish population |
| A Southeast Asian origin for present-day non-African human Y chromosomes |
|
|
|
|
|
|
✓ |
✓ |
Uses terms like 'non-African', 'East/Southeast Asia', and 'West Eurasian' referring to continental/r |
| Disease gene discovery in male infertility: past, present and future |
|
|
|
|
|
|
|
|
|
| Interplay between probe design and test performance: overlap between genomic regions of interest, capture regions and high quality reference calls influence performance of WES-based assays |
|
|
|
|
|
|
|
|
|
| Combi-CRISPR: combination of NHEJ and HDR provides efficient and precise plasmid-based knock-ins in mice and rats |
|
|
|
|
|
|
|
|
|
| The molecular genetic basis of atrial fibrillation |
|
|
|
|
|
|
|
|
|
| The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting |
|
|
|
|
|
|
|
|
|
| The cataract-linked RNA-binding protein Celf1 post-transcriptionally controls the spatiotemporal expression of the key homeodomain transcription factors Pax6 and Prox1 in lens development |
|
|
|
|
|
|
|
|
|
| Identification of novel genetic variants associated with short stature in a Baka Pygmies population |
|
|
|
|
|
|
|
|
|
| Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss |
|
|
|
|
|
|
|
|
|
| Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome |
|
|
|
|
|
|
|
|
|
| The necdin interactome: evaluating the effects of amino acid substitutions and cell stress using proximity-dependent biotinylation (BioID) and mass spectrometry |
|
|
|
|
|
|
|
|
|
| A novel variant in GPAA1, encoding a GPI transamidase complex protein, causes inherited vascular anomalies with various phenotypes |
|
|
|
|
|
|
|
|
|
| Study of telomere length in men who carry a fragile X premutation or full mutation allele |
|
|
|
|
|
|
|
|
|
| Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis |
|
|
|
|
|
|
|
|
|
| Rare variant association testing in the non-coding genome |
|
|
|
|
|
|
|
|
|
| DHH pathogenic variants involved in 46,XY disorders of sex development differentially impact protein self-cleavage and structural conformation |
|
|
|
|
|
|
|
|
|
| Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East |
|
|
|
|
|
|
|
|
|
| The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications |
|
|
|
|
|
|
|
|
|
| The human genetic determinism of life-threatening infectious diseases: genetic heterogeneity and physiological homogeneity? |
|
|
|
|
|
|
|
|
|
| Low-pass genome sequencing: a validated method in clinical cytogenetics |
|
|
|
|
|
|
|
|
|
| Correction to: Genetic algorithms identify individuals with high risk of severe liver disease caused by schistosomes |
|
|
|
|
|
|
|
|
|
| ATP1A3 mutation as a candidate cause of autosomal dominant cone-rod dystrophy |
|
|
|
|
|
|
|
|
|
| Autoantibodies against cytokines: phenocopies of primary immunodeficiencies? |
|
|
|
|
|
|
|
|
|
| Human genetic dissection of papillomavirus-driven diseases: new insight into their pathogenesis |
|
|
|
|
|
|
|
|
|
| De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome |
|
|
|
|
|
|
|
|
|
| Minding the gap in HIV host genetics: opportunities and challenges |
|
|
|
|
|
✓ |
|
|
European cohorts; non-European individuals; European populations |
| Identifying disease-causing mutations in genomes of single patients by computational approaches |
|
|
|
|
|
|
|
|
|
| Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, T |
|
|
|
|
|
|
|
|
|
| Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders |
|
|
|
|
|
|
|
|
|
| SZDB2.0: an updated comprehensive resource for schizophrenia research |
|
|
|
|
|
|
|
|
|
| A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations |
|
|
|
|
✓ |
|
|
|
European/American |
| An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia |
|
|
|
|
|
|
|
|
|
| Correction to: Comprehensive functional annotation of susceptibility variants associated with asthma |
|
|
|
|
|
|
|
|
|
| Somatic mutations in planar cell polarity genes in neural tissue from human fetuses with neural tube defects |
|
|
|
|
|
|
|
|
|
| Evidence for craniofacial enhancer variation underlying nonsyndromic cleft lip and palate |
|
|
|
|
|
|
|
|
|
| Genetic innovations and our understanding of stillbirth |
|
|
|
|
|
|
|
|
|
| AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect |
|
|
|
|
|
|
|
|
|
| Human genetic basis of fulminant viral hepatitis |
|
|
|
|
|
|
|
|
|
| Evolutionary and population (epi)genetics of immunity to infection |
|
|
|
|
|
|
|
|
|
| Systematic microsatellite repeat expansion cloning and validation |
|
|
|
|
|
|
|
|
|
| Genetic algorithms identify individuals with high risk of severe liver disease caused by schistosomes |
|
|
|
|
|
|
|
|
|
| CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix |
|
|
|
|
|
|
|
|
|
| Joint modeling of eQTLs and parent-of-origin effects using an orthogonal framework with RNA-seq data |
|
|
|
|
|
|
|
|
|
| A framework for high-resolution phenotyping of candidate male infertility mutants: from human to mouse |
|
|
|
|
|
|
|
|
|
| Structural variations in a non-coding region at 1q32.1 are responsible for the NYS7 locus in two large families |
|
|
|
|
|
|
|
|
|
| ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease |
|
|
|
|
|
|
|
|
|
| The place of metropolitan France in the European genomic landscape |
|
|
|
|
|
|
|
|
|
| Human genetics of Buruli ulcer |
|
|
|
|
|
|
|
|
|
| A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis |
|
|
|
|
|
|
|
|
|
| Comprehensive functional annotation of susceptibility variants associated with asthma |
|
|
|
|
|
|
|
|
|
| Two novel pleiotropic loci associated with osteoporosis and abdominal obesity |
|
|
|
|
|
|
|
|
|
| Molecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice |
|
|
|
|
|
|
|
|
|
| Role of IRF8 in immune cells functions, protection against infections, and susceptibility to inflammatory diseases |
|
|
|
|
|
|
|
|
|
| A population-based approach for gene prioritization in understanding complex traits |
|
|
|
|
|
|
|
|
|
| The pharmacological chaperone N-n-butyl-deoxygalactonojirimycin enhances β-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosis |
|
|
|
|
|
|
|
|
|
| Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease |
|
|
|
|
|
|
|
|
|
| Ethnogeographic and inter-individual variability of human ABC transporters |
|
|
|
|
|
|
|
|
|
| Delineation of phenotypes and genotypes related to cohesin structural protein RAD21 |
|
|
|
|
|
|
|
|
|
| A genomics approach to females with infertility and recurrent pregnancy loss |
|
|
|
|
|
|
|
|
|
| A large population-based investigation into the genetics of susceptibility to gastrointestinal infections and the link between gastrointestinal infections and mental illness |
|
|
|
|
|
|
|
|
|
| Genetic susceptibility to EBV infection: insights from inborn errors of immunity |
|
|
|
|
|
|
|
|
|
| Human genetics and malaria resistance |
|
|
|
|
|
|
|
|
|
| Genetic determinants of host immunity against human rhinovirus infections |
|
|
|
|
|
|
|
|
|
| Human inborn errors of immunity underlying superficial or invasive candidiasis |
|
|
|
|
|
|
|
|
|
| CNP deficiency causes severe hypomyelinating leukodystrophy in humans |
|
|
|
|
|
|
|
|
|
| Human genetics of HCV infection phenotypes in the era of direct-acting antivirals |
|
|
|
|
|
|
|
|
|
| Comment on “Salokannel et al., Legacy samples in Finnish biobanks: social and legal issues related to the transfer of old sample
collections into biobanks” |
|
|
|
|
|
|
|
|
|
| Reply to: Comment on “Salokannel et al., legacy samples in Finnish biobanks: social and legal issues related to the transfer of old sample collections into biobanks” |
|
|
|
|
|
|
|
|
|
| Human genetics of meningococcal infections |
|
|
|
|
|
|
|
|
|
| Incomplete penetrance in primary immunodeficiency: a skeleton in the closet |
|
|
|
|
|
|
|
|
|
| Low-density lipoprotein receptor-related protein 6-mediated signaling pathways and associated cardiovascular diseases: diagnostic and therapeutic opportunities |
|
|
|
|
|
|
|
|
|
| Decoding a highly mixed Kazakh genome |
|
|
|
|
|
✓ |
|
|
"early European and Near Eastern influence"; "heterozygous SNPs associated with European phenotypic |
| The monogenic basis of human tuberculosis |
|
|
|
|
|
|
|
|
|
| Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies |
|
|
|
|
|
|
|
|
|
| Human genetics of leishmania infections |
|
|
|
|
|
|
|
|
|
| Determining the incidence of rare diseases |
|
|
|
|
|
|
|
|
|
| Special issue on “Molecular genetics of aging and longevity”: a critical time in the field of geroscience |
|
|
|
|
|
|
|
|
|
| New approaches to the study of immune responses in humans |
|
|
|
|
|
|
|
|
|
| Herpes simplex virus encephalitis of childhood: inborn errors of central nervous system cell-intrinsic immunity |
|
|
|
|
|
|
|
|
|
| Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape |
|
|
|
|
|
|
|
|
|
| Mendelian susceptibility to mycobacterial disease: recent discoveries |
|
|
|
|
|
|
|
|
|
| Genetics of the congenital absence of the vas deferens |
|
|
|
|
|
|
|
|
|
| Human genetics of life-threatening influenza pneumonitis |
|
|
|
|
|
|
|
|
|
| Deficiency of SCAMP5 leads to pediatric epilepsy and dysregulation of neurotransmitter release in the brain |
|
|
|
|
|
|
|
|
|
| Mosaic loss of human Y chromosome: what, how and why |
|
|
|
|
|
|
|
|
|
| Susceptibility to infection in early life: a growing role for human genetics |
|
|
|
|
|
|
|
|
|
| Concurrent hearing and genetic screening in a general newborn population |
|
|
|
|
|
|
|
|
|
| Mitonuclear genomics and aging |
|
|
|
|
|
|
|
|
|
| A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis |
|
|
|
|
|
|
|
|
|
| De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth |
|
|
|
|
|
|
|
|
|
| The genetic basis of pneumococcal and staphylococcal infections: inborn errors of human TLR and IL-1R immunity |
|
|
|
|
|
|
|
|
|
| Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives |
|
|
|
|
|
|
|
|
|
| Optimized trio genome sequencing (OTGS) as a first-tier genetic test in critically ill infants: practice in China |
|
|
|
|
|
|
|
|
|
| Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans |
|
|
|
|
|
|
|
|
|
| Novel mutations in SPEF2 causing different defects between flagella and cilia bridge: the phenotypic link between MMAF and PCD |
|
|
|
|
|
|
|
|
|
| The genetic architecture of morphological abnormalities of the sperm tail |
|
|
|
|
|
|
|
|
|
| Evaluating genetic causes of azoospermia: What can we learn from a complex cellular structure and single-cell transcriptomics of the human testis? |
|
|
|
|
|
|
|
|
|
| Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene |
|
|
|
|
|
|
|
|
|
| Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy |
|
|
|
|
|
|
|
|
|
| Loss of chromatin structural integrity is a source of stress during aging |
|
|
|
|
|
|
|
|
|