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Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study
Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study
Exome and genome sequencing (ES/GS) in genetic medicine and research leads to discovering genomic secondary findings (SFs)...
The natural history, clinical outcomes, and genotype–phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review
The natural history, clinical outcomes, and genotype–phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review
Congenital hearing loss affects one in 500 newborns. Sequence variations in OTOF, which encodes the calcium-binding protei...
Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes
Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes
As one of the most common structural birth defects, orofacial clefts (OFCs) have been studied for decades, and recent stud...
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct
Enlargement of the endolymphatic sac, duct, and vestibular aqueduct (EVA) is the most common inner ear malformation identi...
Dyslexia-related loci are significantly associated with language and literacy in Chinese–English bilingual Hong Kong Chinese twins
Dyslexia-related loci are significantly associated with language and literacy in Chinese–English bilingual Hong Kong Chinese twins
A recent genome-wide association study on dyslexia in 51,800 affected European adults and 1,087,070 controls detected 42 g...
A founder DBR1 variant causes a lethal form of congenital ichthyosis
A founder DBR1 variant causes a lethal form of congenital ichthyosis
DBR1 encodes the only known human lariat debranching enzyme and its deficiency has been found to cause an autosom...
Assessing efficiency of fine-mapping obesity-associated variants through leveraging ancestry architecture and functional annotation using PAGE and UKBB cohorts
Assessing efficiency of fine-mapping obesity-associated variants through leveraging ancestry architecture and functional annotation using PAGE and UKBB cohorts
Inadequate representation of non-European ancestry populations in genome-wide association studies (GWAS) has limited oppor...
Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm
Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm
Constitutional complex chromosomal rearrangements (CCRs) are rare cytogenetic aberrations arising in the germline via an u...
Non-coding RNAs as skin disease biomarkers, molecular signatures, and therapeutic targets
Non-coding RNAs as skin disease biomarkers, molecular signatures, and therapeutic targets
Non-coding RNAs (ncRNAs) are emerging as biomarkers, molecular signatures, and therapeutic tools and targets for diseases....
Comparative neurogenetics of dog behavior complements efforts towards human neuropsychiatric genetics
Comparative neurogenetics of dog behavior complements efforts towards human neuropsychiatric genetics
Domestic dogs display a wide array of heritable behaviors that have intermediate genetic complexity thanks to a long histo...
Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia
Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia
Mutations in TDP2, encoding tyrosyl-DNA phosphodiesterase 2, have been associated with a syndromal form of autosomal reces...
Genomics and inclusion of Indigenous peoples in high income countries
Genomics and inclusion of Indigenous peoples in high income countries
Genomics research related to Indigenous people has been at worst exploitative and at best, retrospectively on a journey to...
Investigating the tissue specificity and prognostic impact of cis-regulatory cancer risk variants
Investigating the tissue specificity and prognostic impact of cis-regulatory cancer risk variants
The tissue-specific incidence of cancers and their genetic basis are poorly understood. Although prior studies have shown ...
Editorial for the Neurogenetics and Neurogenomics special issue
Editorial for the Neurogenetics and Neurogenomics special issue
Chen M, Li S, Zhu Z, Dai C, Hao X (2022) Investigating the shared genetic architecture and causal relationship between pai...
Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency
Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency
CHAMP1 disorder is a genetic neurodevelopmental condition caused by mutations in the CHAMP1 gene that result in premature ...
Long-read sequencing reveals the complex structure of extra dic(21;21) chromosome and its biological effects
Long-read sequencing reveals the complex structure of extra dic(21;21) chromosome and its biological effects
Complex congenital chromosome abnormalities are rare but often cause severe symptoms. However, the structures and biologic...
Exonic mutations in cell–cell adhesion may contribute to CADASIL-related CSVD pathology
Exonic mutations in cell–cell adhesion may contribute to CADASIL-related CSVD pathology
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a condition caused...
Genomic characterisation of the overlap of endometriosis with 76 comorbidities identifies pleiotropic and causal mechanisms underlying disease risk
Genomic characterisation of the overlap of endometriosis with 76 comorbidities identifies pleiotropic and causal mechanisms underlying disease risk
Comorbid conditions can be driven by underlying pleiotropic and causal mechanisms that can provide insights into shared mo...
Correction: VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing
Correction: VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which...
Identification of atlastin genetic modifiers in a model of hereditary spastic paraplegia in Drosophila
Identification of atlastin genetic modifiers in a model of hereditary spastic paraplegia in Drosophila
Hereditary spastic paraplegias (HSPs) are a group of neurodegenerative disorders characterized by progressive dysfunction ...
Regulating cancer risk prediction: legal considerations and stakeholder perspectives on the Canadian context
Regulating cancer risk prediction: legal considerations and stakeholder perspectives on the Canadian context
Risk prediction models hold great promise to reduce the impact of cancer in society through advanced warning of risk and i...
Sex differences of the shared genetic landscapes between type 2 diabetes and peripheral artery disease in East Asians and Europeans
Sex differences of the shared genetic landscapes between type 2 diabetes and peripheral artery disease in East Asians and Europeans
Type 2 diabetes (T2D) is a critical risk factor for peripheral artery disease (PAD). However, the sex differences in genet...
Migraine, chronic kidney disease and kidney function: observational and genetic analyses
Migraine, chronic kidney disease and kidney function: observational and genetic analyses
Epidemiological studies demonstrate an association between migraine and chronic kidney disease (CKD), while the genetic ba...
Population history modulates the fitness effects of Copy Number Variation in the Roma
Population history modulates the fitness effects of Copy Number Variation in the Roma
We provide the first whole genome Copy Number Variant (CNV) study addressing Roma, along with reference populations from S...
Integrating eQTL and GWAS data characterises established and identifies novel migraine risk loci
Integrating eQTL and GWAS data characterises established and identifies novel migraine risk loci
Migraine—a painful, throbbing headache disorder—is the most common complex brain disorder, yet its molecular m...
A loss-of-function variant in canine GLRA1 associates with a neurological disorder resembling human hyperekplexia
A loss-of-function variant in canine GLRA1 associates with a neurological disorder resembling human hyperekplexia
Hereditary hyperekplexia is a rare neuronal disorder characterized by an exaggerated startle response to sudden tactile or...
Spinocerebellar ataxia 38: structure–function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot
Spinocerebellar ataxia 38: structure–function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot
Fatty acid elongase ELOVL5 is part of a protein family of multipass transmembrane proteins that reside in the endoplasmic ...
Proteomic profiling of retina and retinal pigment epithelium combined embryonic tissue to facilitate ocular disease gene discovery
Proteomic profiling of retina and retinal pigment epithelium combined embryonic tissue to facilitate ocular disease gene discovery
To expedite gene discovery in eye development and its associated defects, we previously developed a bioinformatics resourc...
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues
The minichromosome maintenance (MCM) complex acts as a DNA helicase during DNA replication, and thereby regulates cell cyc...
Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder
Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder
Contactin-associated protein-like 2 (CNTNAP2) gene encodes for CASPR2, a presynaptic type 1 transmembrane protein, involve...
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