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Two-stage strategy using denoising autoencoders for robust reference-free genotype imputation with missing input genotypes
Two-stage strategy using denoising autoencoders for robust reference-free genotype imputation with missing input genotypes
Widely used genotype imputation methods are based on the Li and Stephens model, which assumes that new haplotypes can be r...
A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures
A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures
Glycosylphosphatidylinositol (GPI)-anchored proteins are located at the cell surface by a covalent attachment between prot...
Genotypic and phenotypic characteristics of sodium channel—associated epilepsy in Chinese population
Genotypic and phenotypic characteristics of sodium channel—associated epilepsy in Chinese population
Variants in voltage-gated sodium channel (VGSC) genes are implicated in seizures, epilepsy, and neurodevelopmental disorde...
Whole genome sequencing of families diagnosed with cardiac channelopathies reveals structural variants missed by whole exome sequencing
Whole genome sequencing of families diagnosed with cardiac channelopathies reveals structural variants missed by whole exome sequencing
Cardiac channelopathies are a group of heritable disorders that affect the heart’s electrical activity due to geneti...
Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxia
Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxia
Intronic GAA repeat expansion ([GAA] ≥250) in FGF14 is associated with the late-onset neurodegenerative disorder, sp...
The recommendation of re-classification of variants of uncertain significance (VUS) in adult genetic disorders patients
The recommendation of re-classification of variants of uncertain significance (VUS) in adult genetic disorders patients
Since variants of uncertain significance (VUS) reported in genetic testing cannot be acted upon clinically, this classific...
Genetic association mapping leveraging Gaussian processes
Genetic association mapping leveraging Gaussian processes
Gaussian processes (GPs) are a powerful and useful approach for modelling nonlinear phenomena in various scientific fields...
Clinical and molecular characteristics of Korean patients with Kabuki syndrome
Clinical and molecular characteristics of Korean patients with Kabuki syndrome
Kabuki syndrome (KS) is a rare disorder characterized by typical facial features, skeletal anomalies, fetal fingertip pad ...
Hexanucleotide repeat expansion in SCA36 reduces the expression of genes involved in ribosome biosynthesis and protein translation
Hexanucleotide repeat expansion in SCA36 reduces the expression of genes involved in ribosome biosynthesis and protein translation
Hereditary spinocerebellar ataxia (SCA) is a group of clinically and genetically heterogeneous inherited disorders charact...
Homozygous variant in DRC3 (LRRC48) gene causes asthenozoospermia and male infertility
Homozygous variant in DRC3 (LRRC48) gene causes asthenozoospermia and male infertility
Human infertility affects 10–15% of couples. Asthenozoospermia accounts for 18% of men with infertility and is a com...
Fundamentals for predicting transcriptional regulations from DNA sequence patterns
Fundamentals for predicting transcriptional regulations from DNA sequence patterns
Cell-type-specific regulatory elements, cataloged through extensive experiments and bioinformatics in large-scale consorti...
A novel pathogenic mitochondrial DNA variant m.4344T>C in tRNAGln causes developmental delay
A novel pathogenic mitochondrial DNA variant m.4344T>C in tRNAGln causes developmental delay
Mitochondrial diseases are a group of genetic diseases caused by mutations in mitochondrial DNA and nuclear DNA. However, ...
FBXO11 variants are associated with intellectual disability and variable clinical manifestation in Chinese affected individuals
FBXO11 variants are associated with intellectual disability and variable clinical manifestation in Chinese affected individuals
F-box protein 11 (FBXO11) is a member of F-Box protein family, which has recently been proved to be associated with intell...
Exploring the relationship between admixture and genetic susceptibility to attention deficit hyperactivity disorder in two Latin American cohorts
Exploring the relationship between admixture and genetic susceptibility to attention deficit hyperactivity disorder in two Latin American cohorts
Contemporary research on the genomics of Attention Deficit Hyperactivity Disorder (ADHD) often underrepresents admixed pop...
Prevalence of FSH-R Asn680Ser and Ala307Thr receptor polymorphism and their correlation with ART outcomes among infertile Indian-Asian women-a prospective cohort study
Prevalence of FSH-R Asn680Ser and Ala307Thr receptor polymorphism and their correlation with ART outcomes among infertile Indian-Asian women-a prospective cohort study
The present prospective cohort study evaluated the prevalence of FSH-R receptor Asn680Ser and Ala307Thr among infertile In...
Mediation role of DNA methylation in association between handgrip strength and cognitive function in monozygotic twins
Mediation role of DNA methylation in association between handgrip strength and cognitive function in monozygotic twins
Handgrip strength is a crucial indicator to monitor the change of cognitive function over time, but its mechanism still ne...
Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases
Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases
Distal Xq28 duplication, or int22h1/int22h2-mediated Xq28 duplication syndrome, leads to cognitive impairment, neurobehavi...
Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7
Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7
Biallelic TOE1 variants can cause pontocerebellar hypoplasia type 7 (PCH7), a condition characterized by pontocerebellar h...
Long-term course of a case with a novel homozygous kyphoscoliosis peptidase variant
Long-term course of a case with a novel homozygous kyphoscoliosis peptidase variant
We herein report a case with a novel homozygous variant in the kyphoscoliosis peptidase (KY) gene. A 58-year-old Japanese ...
Heritability of complex traits in sub-populations experiencing bottlenecks and growth
Heritability of complex traits in sub-populations experiencing bottlenecks and growth
Populations that have experienced a bottleneck are regularly used in Genome Wide Association Studies (GWAS) to investigate...
Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review
Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review
Spondylocostal dysostosis (SCDO) encompasses a group of skeletal disorders characterized by multiple segmentation defects ...
Correction: Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which...
Visit to visit transition in TXNIP gene methylation and the risk of type 2 diabetes mellitus: a nested case-control study
Visit to visit transition in TXNIP gene methylation and the risk of type 2 diabetes mellitus: a nested case-control study
Our study aimed to investigate the association between the transition of the TXNIP gene methylation level and the risk of ...
A mediation analysis framework based on variance component to remove genetic confounding effect
A mediation analysis framework based on variance component to remove genetic confounding effect
Identification of pleiotropy at the single nucleotide polymorphism (SNP) level provides valuable insights into shared gene...
Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies
Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies
Intellectual disabilities (ID) and autism spectrum disorders (ASD) have a variety of etiologies, including environmental a...
Correction: The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population
Author notesThese authors contributed equally: Masashi Idogawa, Tasuku Mariya.Authors and AffiliationsDepartment of Medica...
Correction: The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease
Department of Pediatrics, Keio University School of Medicine, Tokyo, JapanTadashi Inoue, Keiko Uchida, Kazuki Kodo, Masaya...
New insights into the clinical and molecular spectrum of the MADD-related neurodevelopmental disorder
New insights into the clinical and molecular spectrum of the MADD-related neurodevelopmental disorder
Biallelic pathogenic variants in MADD lead to a very rare neurodevelopmental disorder which is phenotypically pleiotropic ...
A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases
A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases
Phenotypic and genotypic heterogeneity in congenital ocular diseases, especially in anterior segment dysgenesis (ASD), hav...
Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAP variant causing DEHMBA syndrome with severe sleep disorder
Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAP variant causing DEHMBA syndrome with severe sleep disorder
Rare heterozygous variants in exons 33-34 of the SRCAP gene are associated with Floating-Harbor syndrome and have a domina...
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