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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...
Assessing the predicted impact of single amino acid substitutions in calmodulin for CAGI6 challenges
Assessing the predicted impact of single amino acid substitutions in calmodulin for CAGI6 challenges
Recent thermodynamic and functional studies have been conducted to evaluate the impact of amino acid substitutions on Calm...
Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search
Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search
There are hundreds of rare syndromic diseases involving hearing loss, many of which are not targeted for clinical genetic ...
A genome-wide scan of non-coding RNAs and enhancers for refractive error and myopia
A genome-wide scan of non-coding RNAs and enhancers for refractive error and myopia
Refractive error (RE) and myopia are complex polygenic conditions with the majority of genome-wide associated genetic vari...
Human organoids for rapid validation of gene variants linked to cochlear malformations
Human organoids for rapid validation of gene variants linked to cochlear malformations
Developmental anomalies of the hearing organ, the cochlea, are diagnosed in approximately one-fourth of individuals with c...
Plasma-derived exosomal miRNA profiles reveal potential epigenetic pathogenesis of premature ovarian failure
Plasma-derived exosomal miRNA profiles reveal potential epigenetic pathogenesis of premature ovarian failure
The role of plasma-derived exosomal miRNA in premature ovarian failure (POF) remains unclear. This study aimed to investig...
rs10924104 in the expression enhancer motif of CD58 confers susceptibility to human autoimmune diseases
rs10924104 in the expression enhancer motif of CD58 confers susceptibility to human autoimmune diseases
CD58 plays roles in cell adhesion and co-stimulation with antigen presentation from major histocompatibility complex class...
Genetics and epigenetics of diabetes and its complications in India
Genetics and epigenetics of diabetes and its complications in India
Diabetes mellitus (DM) has become a significant health concern with an increasing rate of morbidity and mortality worldwid...
Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs)
Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs)
Episignatures are popular tools for the diagnosis of rare neurodevelopmental disorders. They are commonly based on a set o...
Genetic spectrums and clinical profiles of critically ill neonates with congenital auricular deformity in the China Neonatal Genomes Project
Genetic spectrums and clinical profiles of critically ill neonates with congenital auricular deformity in the China Neonatal Genomes Project
Congenital auricular deformity (CAD) is a complex phenotype that may occur as a single malformation or part of a congenita...
Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants
Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants
To investigate the genotype-to-protein-to-phenotype correlations of succinic semialdehyde dehydrogenase deficiency (SSADHD...
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage
Machado-Joseph disease (MJD/SCA3) is the most frequent dominant ataxia worldwide. It is caused by a (CAG)n expansion. MJD ...
KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster
KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster
Arboleda-Tham Syndrome (ARTHS) is a rare genetic disorder caused by heterozygous, de novo mutations in Lysine(K) acetyltra...
CRISPR/Cas-based gene editing in therapeutic strategies for beta-thalassemia
CRISPR/Cas-based gene editing in therapeutic strategies for beta-thalassemia
Beta-thalassemia (β-thalassemia) is an autosomal recessive disorder caused by point mutations, insertions, and deleti...
Functional implications of paralog genes in polyglutamine spinocerebellar ataxias
Functional implications of paralog genes in polyglutamine spinocerebellar ataxias
Polyglutamine (polyQ) spinocerebellar ataxias (SCAs) comprise a group of autosomal dominant neurodegenerative disorders ca...
How human genetic context can inform pathogenicity classification: FGFR1 variation in idiopathic hypogonadotropic hypogonadism
How human genetic context can inform pathogenicity classification: FGFR1 variation in idiopathic hypogonadotropic hypogonadism
Precision medicine requires precise genetic variant interpretation, yet many disease-associated genes have unresolved vari...
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