| Mining local exome and HLA data to characterize pharmacogenetic variants in Saudi Arabia |
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| Recombination map tailored to Native Hawaiians may improve robustness of genomic scans for positive selection |
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✓ |
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Northern and Western European ancestry |
| Protein-centric omics integration analysis identifies candidate plasma proteins for multiple autoimmune diseases |
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| Regulation potential of transcribed simple repeated sequences in developing neurons |
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| Impact of calmodulin missense variants associated with congenital arrhythmia on the thermal stability and the degree of unfolding |
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| Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals |
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| An emerging link between lncRNAs and cancer sex dimorphism |
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| Unraveling phenotypic variance in metabolic syndrome through multi-omics |
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| Plasma-derived exosomal miRNA profiles reveal potential epigenetic pathogenesis of premature ovarian failure |
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| Genetics and epigenetics of diabetes and its complications in India |
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| rs10924104 in the expression enhancer motif of CD58 confers susceptibility to human autoimmune diseases |
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| Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants |
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| Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage |
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✓ |
✓ |
Portuguese, Spanish, North-American, Sudanese, African, African-American, Portuguese extraction |
| Genetic spectrums and clinical profiles of critically ill neonates with congenital auricular deformity in the China Neonatal Genomes Project |
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| Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs) |
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| CRISPR/Cas-based gene editing in therapeutic strategies for beta-thalassemia |
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| KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster |
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| Functional implications of paralog genes in polyglutamine spinocerebellar ataxias |
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| How human genetic context can inform pathogenicity classification: FGFR1 variation in idiopathic hypogonadotropic hypogonadism |
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| Long noncoding RNAs as versatile molecular regulators of cellular stress response and homeostasis |
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| Homozygous variants in CDC23 cause female infertility characterized by oocyte maturation defects |
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| Understanding the pathogenesis of brain arteriovenous malformation: genetic variations, epigenetics, signaling pathways, and immune inflammation |
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| CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence |
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| A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration |
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| N6-methyladenosine modified lncRNAs signature for stratification of biochemical recurrence in prostate cancer |
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| Leveraging molecular quantitative trait loci to comprehend complex diseases/traits from the omics perspective |
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| Circulating DNA reveals a specific and higher fragmentation of the Y chromosome |
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| Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study |
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| Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes |
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| The natural history, clinical outcomes, and genotype–phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review |
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| Dyslexia-related loci are significantly associated with language and literacy in Chinese–English bilingual Hong Kong Chinese twins |
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| CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct |
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✓ |
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European–Caucasian populations |
| Assessing efficiency of fine-mapping obesity-associated variants through leveraging ancestry architecture and functional annotation using PAGE and UKBB cohorts |
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| A founder DBR1 variant causes a lethal form of congenital ichthyosis |
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| Colocalization of expression transcripts with COVID-19 outcomes is rare across cell states, cell types and organs |
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| Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm |
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| Non-coding RNAs as skin disease biomarkers, molecular signatures, and therapeutic targets |
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| Comparative neurogenetics of dog behavior complements efforts towards human neuropsychiatric genetics |
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| Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia |
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| Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency |
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| Genomics and inclusion of Indigenous peoples in high income countries |
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✓ |
✓ |
Indigenous ancestry; shared ancestry groupings; sub-populations; population-specific data; populatio |
| Editorial for the Neurogenetics and Neurogenomics special issue |
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| Long-read sequencing reveals the complex structure of extra dic(21;21) chromosome and its biological effects |
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| Exonic mutations in cell–cell adhesion may contribute to CADASIL-related CSVD pathology |
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| Investigating the tissue specificity and prognostic impact of cis-regulatory cancer risk variants |
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| Genomic characterisation of the overlap of endometriosis with 76 comorbidities identifies pleiotropic and causal mechanisms underlying disease risk |
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| Correction: VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing |
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| Identification of atlastin genetic modifiers in a model of hereditary spastic paraplegia in Drosophila |
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| Regulating cancer risk prediction: legal considerations and stakeholder perspectives on the Canadian context |
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| Sex differences of the shared genetic landscapes between type 2 diabetes and peripheral artery disease in East Asians and Europeans |
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✓ |
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Europeans |
| Population history modulates the fitness effects of Copy Number Variation in the Roma |
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reference populations from South Asia, the Middle East and Europe |
| Migraine, chronic kidney disease and kidney function: observational and genetic analyses |
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✓ |
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European ancestry |
| Integrating eQTL and GWAS data characterises established and identifies novel migraine risk loci |
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| A loss-of-function variant in canine GLRA1 associates with a neurological disorder resembling human hyperekplexia |
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| De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues |
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| Spinocerebellar ataxia 38: structure–function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot |
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| Proteomic profiling of retina and retinal pigment epithelium combined embryonic tissue to facilitate ocular disease gene discovery |
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| Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder |
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| Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency |
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| Gene-based association study reveals a distinct female genetic signal in primary hypertension |
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| Special issue: the genetics of early onset inflammatory bowel disease (IBD) and diarrheal disorders |
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| The omics era: a nexus of untapped potential for Mendelian chromatinopathies |
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| Cellular senescence and neurodegeneration |
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| Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a classical neurofibro |
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| Functional investigation of SCN1A deep-intronic variants activating poison exons inclusion |
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| H2A monoubiquitination: insights from human genetics and animal models |
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| The exocyst complex in neurological disorders |
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| Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome |
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| Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing |
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| Demographic diversity of genetic databases used in Alzheimer’s disease research |
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| Unintended CRISPR-Cas9 editing outcomes: a review of the detection and prevalence of structural variants generated by gene-editing in human cells |
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| Proteome-wide Mendelian randomization reveals the causal effects of immune-related plasma proteins on psychiatric disorders |
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| Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations |
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| High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders |
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| Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility |
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| Clinical and genome-wide association analysis of chemoradiation-induced hearing loss in nasopharyngeal carcinoma |
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| SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia |
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| DNA methylation signatures for chromatinopathies: current challenges and future applications |
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| Predicting ExWAS findings from GWAS data: a shorter path to causal genes |
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| Transcriptomic reprogramming for neuronal age reversal |
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| Direct and indirect impact of SARS-CoV-2 on the brain |
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| ADGB variants cause asthenozoospermia and male infertility |
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| Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function |
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| Nuclear speckleopathies: developmental disorders caused by variants in genes encoding nuclear speckle proteins |
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| CRELD1 variants are associated with bicuspid aortic valve in Turner syndrome |
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| Toward a comprehensive catalog of regulatory elements |
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| Great expectations: patients’ preferences for clinically significant results from genomic sequencing |
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| Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here? |
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| Loss of SUN1 function in spermatocytes disrupts the attachment of telomeres to the nuclear envelope and contributes to non-obstructive azoospermia in humans |
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| Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly |
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| Enrichment of self-domestication and neural crest function loci in the heritability of neurodevelopmental disorders |
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| Genome-wide analysis of genetic pleiotropy and causal genes across three age-related ocular disorders |
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| VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing |
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| oFlowSeq: a quantitative approach to identify protein coding mutations affecting cell type enrichment using mosaic CRISPR-Cas9 edited cerebral organoids |
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| Histone 3.3-related chromatinopathy: missense variants throughout H3-3A and H3-3B cause a range of functional consequences across species |
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| TMEM151A variants associated with paroxysmal kinesigenic dyskinesia |
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| Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation |
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| Cross-trait analyses identify shared genetics between migraine, headache, and glycemic traits, and a causal relationship with fasting proinsulin |
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✓ |
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|
European populations |
| Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping |
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| Using comprehensive genomic and functional analyses for resolving genotype–phenotype mismatches in children with suspected CMMRD in Lebanon: an IRRDC study |
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| Beyond IBD: the genetics of other early-onset diarrhoeal disorders |
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| Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia |
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| Phenome-wide genetic-correlation analysis and genetically informed causal inference of amyotrophic lateral sclerosis |
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| Interpreting variants in genes affected by clonal hematopoiesis in population data |
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| The genetics of non-monogenic IBD |
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| PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis |
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| A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract |
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| Target-allele-specific probe single-base extension (TASP-SBE): a novel MALDI–TOF–MS strategy for multi-variants analysis and its application in simultaneous detection of α-/β-thalassemia mutations |
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| Finding the sweet spot: a qualitative study exploring patients’ acceptability of chatbots in genetic service delivery |
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| Reply to Letter about whole genome sequencing in newborns |
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