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Exploring mutation carriers’ preferences regarding onset and progression of disease predictions for adult-onset genetic neurodegenerative diseases: a qualitative interview study
Exploring mutation carriers’ preferences regarding onset and progression of disease predictions for adult-onset genetic neurodegenerative diseases: a qualitative interview study
Currently, new research projects aim to develop prognostic models that more accurately predict the age of onset and progre...
APM-Related gene signature model to predict prognosis and immunotherapy response in hepatocellular carcinoma
APM-Related gene signature model to predict prognosis and immunotherapy response in hepatocellular carcinoma
Hepatocellular carcinoma (HCC) is a primary liver malignancy with a dismal prognosis. This study established and validated...
PRP: pathogenic risk prediction for rare nonsynonymous single nucleotide variants
PRP: pathogenic risk prediction for rare nonsynonymous single nucleotide variants
Reliable prediction of pathogenic variants plays a crucial role in personalized medicine, which aims to provide accurate d...
Expanding the phenotypic spectrum of : a recall-by-genotype study
Expanding the phenotypic spectrum of : a recall-by-genotype study
Rare variants in prokineticin 2 pathway genes (PROK2; PROKR2), cause isolated hypogonadotropic hypogonadism (IHH) in human...
Integrating gene mutation spectra from tumors and the general population with gene expression topological networks to identify novel cancer driver genes
Integrating gene mutation spectra from tumors and the general population with gene expression topological networks to identify novel cancer driver genes
Discovering cancer driver genes is critical for improving survival rates. Current methods often overlook the varying funct...
Current perspectives on gene therapy and its involvement in curing genetic disorders
Current perspectives on gene therapy and its involvement in curing genetic disorders
Genomics is revolutionizing medical science, offering transformative potential for the future of medicine. Advances in who...
Efficacy of delandistrogene moxeparvovec on Duchenne muscular dystrophy: a systematic review and meta-analysis
Efficacy of delandistrogene moxeparvovec on Duchenne muscular dystrophy: a systematic review and meta-analysis
Delandistrogene moxeparvovec was recently approved for Duchenne Muscular Dystrophy (DMD), using an adeno-associated virus ...
FBRSL1 regulates the expression of chromatin regulators and
FBRSL1 regulates the expression of chromatin regulators and
FBRSL1-associated syndrome is a rare congenital malformation and intellectual disability syndrome caused by heterozygous t...
Characterizing the HLA region’s genetic architecture through local heritability and correlation analyses across complex traits in diverse ancestries
Characterizing the HLA region’s genetic architecture through local heritability and correlation analyses across complex traits in diverse ancestries
The human leukocyte antigen (HLA) region is a critical genetic locus associated with diverse complex traits, yet its intri...
Genomic and molecular evidence that the LncRNA modulates desmoplakin expression
Genomic and molecular evidence that the LncRNA modulates desmoplakin expression
Cardiac desmosomes are specialized cell junctions responsible for cardiomyocytes mechanical coupling. Mutation in desmosom...
Mutation-aware formulation: a genomic framework for equitable global dermocosmetics
Mutation-aware formulation: a genomic framework for equitable global dermocosmetics
Despite advances in dermatogenomics, the global skincare industry continues to rely on generalized formulation strategies ...
Direct connexin-26 interactions with membrane proteins functionally relevant to the cochlea
Direct connexin-26 interactions with membrane proteins functionally relevant to the cochlea
Connexin 26, the protein encoded by the GJB2 (Gap junction protein beta 2) gene, is expressed in different tissues, includ...
Biallelic loss-of-function variants of cause male infertility associated with asthenozoospermia in humans
Biallelic loss-of-function variants of cause male infertility associated with asthenozoospermia in humans
Although variants in DNAH family genes have been suggested as a main contributor to asthenozoospermia in humans, the role ...
Molecular features of : insights into an overlooked gene with broad functional potential
Molecular features of : insights into an overlooked gene with broad functional potential
Despite two decades since the completion of the human genome, many genes remain poorly understood, with their functions la...
uAUG-creating variant in the gene causes mild Familial hypercholesterolemia
uAUG-creating variant in the gene causes mild Familial hypercholesterolemia
Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated low-density lipoprotein (LDL) levels, l...
GBF1 deficiency causes cataracts in human and mouse
GBF1 deficiency causes cataracts in human and mouse
Any opacification of the lens can be defined as cataracts, and lens epithelium cells play a crucial role in guaranteeing l...
Genome-wide study of gene-by-sex interactions identifies risks for cleft palate
Genome-wide study of gene-by-sex interactions identifies risks for cleft palate
Structural birth defects affect 3–4% of all live births and, depending on the type, tend to manifest in a sex-biased...
Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis
Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis
Biallelic variants in the ERLIN1 gene were recently reported as the cause of two motor neuron degeneration diseases, SPG62...
Integrative genomic analyses identify neuroblastoma risk genes involved in neuronal differentiation
Integrative genomic analyses identify neuroblastoma risk genes involved in neuronal differentiation
Genome-Wide Association Studies (GWAS) have been decisive in elucidating the genetic predisposition of neuroblastoma (NB)....
Integrative analysis of transcriptome and proteome wide association studies prioritized functional genes for obesity
Integrative analysis of transcriptome and proteome wide association studies prioritized functional genes for obesity
Genome-wide association studies have identified dozens of genomic loci for obesity. However, functional genes and their de...
Integrating transcriptomic and polygenic risk scores to enhance predictive accuracy for ischemic stroke subtypes
Integrating transcriptomic and polygenic risk scores to enhance predictive accuracy for ischemic stroke subtypes
Ischemic stroke (IS), characterized by complex etiological diversity, is a significant global health challenge. Recent adv...
Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans
Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans
Ocular coloboma (OC) is a congenital disorder caused by the incomplete closure of the embryonic ocular fissure. OC can pre...
Interpreting the actionable clinical role of rare variants associated with short QT syndrome
Interpreting the actionable clinical role of rare variants associated with short QT syndrome
Genetic testing is recommended in the diagnosis of short QT syndrome. This rare inherited lethal entity is characterized b...
Genetic analysis of preaxial polydactyly: identification of novel variants and the role of ZRS duplications in a Chinese cohort of 102 cases
Genetic analysis of preaxial polydactyly: identification of novel variants and the role of ZRS duplications in a Chinese cohort of 102 cases
Preaxial polydactyly (PPD) is a congenital limb malformation, previously reported to be caused primarily by variants in th...
The MorbidGenes panel: a monthly updated list of diagnostically relevant rare disease genes derived from diverse sources
The MorbidGenes panel: a monthly updated list of diagnostically relevant rare disease genes derived from diverse sources
Purpose: With exome sequencing now standard, diagnostic labs are in need of a, in principle, to-the-day-accurate list of g...
Advancements and limitations in polygenic risk score methods for genomic prediction: a scoping review
Advancements and limitations in polygenic risk score methods for genomic prediction: a scoping review
This scoping review aims to identify and evaluate the landscape of Polygenic Risk Score (PRS)-based methods for genomic pr...
Germline copy number variants and endometrial cancer risk
Germline copy number variants and endometrial cancer risk
Known risk loci for endometrial cancer explain approximately one third of familial endometrial cancer. However, the associ...
Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features
Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features
DDX41 (DEAD‑box helicase 41) is a member of the largest family of RNA helicases. The DEAD-box RNA helicases share a ...
Polymorphic pseudogenes in the human genome - a comprehensive assessment
Polymorphic pseudogenes in the human genome - a comprehensive assessment
Background: Over the past decade, variations of the coding portion of the human genome have become increasingly evident. I...
Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities
Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities
Neuron navigators (NAVs) are cytoskeleton-associated proteins well known for their role in axonal guidance, neuronal migra...
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