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Novel ITPA variants identified by whole genome sequencing and RNA sequencing
Novel ITPA variants identified by whole genome sequencing and RNA sequencing
Approximately 80% of rare diseases have a genetic cause, and an accurate genetic diagnosis is necessary for disease manage...
Correction: A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2
These authors contributed equally: María Elena Rodríguez-García, Francisco Javier Cotrina-Vinagre.Grupo de Enfermedades Ra...
Clinical and genetic features of cystic fibrosis in Japan
Clinical and genetic features of cystic fibrosis in Japan
Cystic fibrosis (CF) is an autosomal recessive disease caused by pathogenic variants in CF transmembrane conductance regul...
Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss
Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss
Hearing loss (HL) is a common heterogeneous trait that involves variants in more than 200 genes. In this study, we utilize...
Systematic analyses of GWAS summary statistics from UK Biobank identified novel susceptibility loci and genes for upper gastrointestinal diseases
Systematic analyses of GWAS summary statistics from UK Biobank identified novel susceptibility loci and genes for upper gastrointestinal diseases
In recent decades, upper gastrointestinal (GI) diseases have been highly prevalent worldwide. Although genome-wide associa...
Enhanced multi-FISH analysis of immunophenotyped plasma cells by imaging flow cytometry
Enhanced multi-FISH analysis of immunophenotyped plasma cells by imaging flow cytometry
Tsukamoto T, Kinoshita M, Yamada K, Ito H, Yamaguchi T, Chinen Y, et al. Imaging flow cytometry-based multiplex FISH for t...
ATP6V0C gene variants were identified in individuals with epilepsy, with or without developmental delay
ATP6V0C gene variants were identified in individuals with epilepsy, with or without developmental delay
The cause of epilepsy with or without developmental disorders was unidentified in a significant proportion of patients. Wh...
The molecular mechanisms of recombinant chromosome 18 with parental pericentric inversions and a review of the literature
The molecular mechanisms of recombinant chromosome 18 with parental pericentric inversions and a review of the literature
Chromosomal rearrangements mostly result from non-allelic homologous recombination mediated by low-copy repeats (LCRs) or ...
Adjusting for population stratification in polygenic risk score analyses: a guide for model specifications in the UK Biobank
Adjusting for population stratification in polygenic risk score analyses: a guide for model specifications in the UK Biobank
The current study was conducted to provide a general guidance for model specifications in polygenic risk score (PRS) analy...
Expanding the phenotypic spectrum and clinical severity associated with WLS gene
Expanding the phenotypic spectrum and clinical severity associated with WLS gene
WLS (Wnt ligand secretion mediator or Wntless) orchestrates the secretion of all Wnt proteins, a family of evolutionary co...
Illuminating the potential causality of serum level of matrix metalloproteinases and the occurrence of cardiovascular and cerebrovascular diseases: a Mendelian randomization study
Illuminating the potential causality of serum level of matrix metalloproteinases and the occurrence of cardiovascular and cerebrovascular diseases: a Mendelian randomization study
It is still not clear that whether the expression levels of matrix metalloproteinases (MMPs) family are associated with ca...
Clinical risk management of breast, ovarian, pancreatic, and prostatic cancers for BRCA1/2 variant carriers in Japan
Clinical risk management of breast, ovarian, pancreatic, and prostatic cancers for BRCA1/2 variant carriers in Japan
Opportunities for genetic counseling and germline BRCA1/2 (BRCA) testing are increasing in Japan owing to cancer genomic p...
Common and rare variants associated with cardiometabolic traits across 98,622 whole-genome sequences in the All of Us research program
Common and rare variants associated with cardiometabolic traits across 98,622 whole-genome sequences in the All of Us research program
All of Us is a biorepository aiming to advance biomedical research by providing various types of data in diverse human pop...
A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2
A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2
We report a 9-year-old Spanish boy with severe psychomotor developmental delay, short stature, microcephaly and abnormalit...
Recontact: a survey of current practices and BRCA1/2 testing in Japan
Genetic testing advances have enabled the provision of previously unavailable information on the pathogenicity of genetic ...
Genotyping, characterization, and imputation of known and novel CYP2A6 structural variants using SNP array data
Genotyping, characterization, and imputation of known and novel CYP2A6 structural variants using SNP array data
CYP2A6 metabolically inactivates nicotine. Faster CYP2A6 activity is associated with heavier smoking and higher lung cance...
Hematologic traits and primary biliary cholangitis: a Mendelian randomization study
Hematologic traits and primary biliary cholangitis: a Mendelian randomization study
Hematologic abnormalities was observationally associated with the susceptibility of primary biliary cholangitis (PBC). How...
Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern
Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern
RRM2B encodes the p53-inducible small subunit (p53R2) of ribonucleotide reductase, a key protein for mitochondrial DNA (mt...
A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome
A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome
The recent introduction of genome sequencing in genetic analysis has led to the identification of pathogenic variants loca...
Identification of putative regulatory single-nucleotide variants in NTN1 gene associated with NSCL/P
Identification of putative regulatory single-nucleotide variants in NTN1 gene associated with NSCL/P
Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common polygenetic disease. Although genome-wide associ...
Imaging flow cytometry-based multiplex FISH for three IGH translocations in multiple myeloma
Imaging flow cytometry-based multiplex FISH for three IGH translocations in multiple myeloma
Three types of chromosomal translocations, t(4;14)(p16;q32), t(14;16)(q32;q23), and t(11;14)(q13;q32), are associated with...
Acknowledgment to the reviewers in 2022
Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obta...
Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models
Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models
Primary microcephaly is a rare, congenital, and genetically heterogeneous disorder in which occipitofrontal head circumfer...
Identification of novel FHL1 mutations associated with X-linked scapuloperoneal myopathy in unrelated Chinese patients
Identification of novel FHL1 mutations associated with X-linked scapuloperoneal myopathy in unrelated Chinese patients
Mutations in the FHL1 gene can be associated with a variety of X-linked myopathies and cardiomyopathies, among which X-lin...
Frequency and distribution of BRCA1/BRCA2 large genomic rearrangements in Turkish population with breast cancer
Frequency and distribution of BRCA1/BRCA2 large genomic rearrangements in Turkish population with breast cancer
Germline mutations in BRCA1 and BRCA2 genes are mainly responsible for breast and/or ovarian cancer patients. Most of the ...
Association of rs9939609 in FTO with BMI among Polynesian peoples living in Aotearoa New Zealand and other Pacific nations
Association of rs9939609 in FTO with BMI among Polynesian peoples living in Aotearoa New Zealand and other Pacific nations
The fat mass and obesity associated (FTO) locus consistently associates with higher body mass index (BMI) across diverse a...
Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis
Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis
Primary ciliary dyskinesia (PCD) is a hereditary disease caused by pathogenic variants in genes associated with motile cil...
A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype
A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype
Neurodevelopmental disorders (NDDs) are heterogeneous, debilitating conditions that include motor and cognitive disability...
Newly revealed variants of SERPINA3 in generalized pustular psoriasis attenuate inhibition of ACT on cathepsin G
Newly revealed variants of SERPINA3 in generalized pustular psoriasis attenuate inhibition of ACT on cathepsin G
Generalized pustular psoriasis (GPP) is an autoinflammatory skin disease whose pathogenesis has not yet been fully elucida...
Management of patients with presumed germline pathogenic variant from tumor-only genomic sequencing: A retrospective analysis at a single facility
Management of patients with presumed germline pathogenic variant from tumor-only genomic sequencing: A retrospective analysis at a single facility
Cancer treatment is increasingly evolving toward personalized medicine, which sequences numerous cancer-related genes and ...
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