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Further evidence of biallelic variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities
Further evidence of biallelic 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...
CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs)
CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs)
The Genetics of Neurodevelopmental Disorders Lab in Padua provided a new intellectual disability (ID) Panel challenge for ...
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...
Conventional and genetic association between migraine and stroke with druggable genome-wide Mendelian randomization
Conventional and genetic association between migraine and stroke with druggable genome-wide Mendelian randomization
The genetic relationship between migraine and stroke remains underexplored, particularly in the context of druggable targe...
An augmented transformer model trained on protein family specific variant data leads to improved prediction of variants of uncertain significance
An augmented transformer model trained on protein family specific variant data leads to improved prediction of variants of uncertain significance
Variants of uncertain significance (VUS) represent variants that lack sufficient evidence to be confidently associated wit...
Global dysregulation of circular RNAs in frontal cortex and whole blood from DM1 and DM2
Global dysregulation of circular RNAs in frontal cortex and whole blood from DM1 and DM2
Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are autosomal dominant neuromuscular disorders associated with expansions...
Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous variants
Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous variants
KITLG pathogenic variants have been associated to three distinct clinical presentations with different combinations of hea...
Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers
Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers
Critical evaluation of computational tools for predicting variant effects is important considering their increased use in ...
Decade-long application of preimplantation genetic testing for DMD/BMD: analysis of five clinical strategies and embryo recombination patterns
Decade-long application of preimplantation genetic testing for DMD/BMD: analysis of five clinical strategies and embryo recombination patterns
This study aimed to find the most effective PGT-M strategy for Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/...
Assessing the predicted impact of single amino acid substitutions in MAPK proteins for CAGI6 challenges
Assessing the predicted impact of single amino acid substitutions in MAPK proteins for CAGI6 challenges
New thermodynamic and functional studies have been recently conducted to evaluate the impact of amino acid substitutions o...
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge
Neurodevelopmental disorders (NDDs) are common conditions including clinically diverse and genetically heterogeneous disea...
Mendelian randomization analysis and molecular mechanism study of childhood asthma and obstructive sleep apnea
Mendelian randomization analysis and molecular mechanism study of childhood asthma and obstructive sleep apnea
Childhood asthma is a common chronic respiratory disorder influenced by various factors, and obstructive sleep apnea (OSA)...
Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A
Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A
Continued advances in variant effect prediction are necessary to demonstrate the ability of machine learning methods to ac...
The genetic footprint of the European Roma diaspora: evidence from the Balkans to the Iberian Peninsula
The genetic footprint of the European Roma diaspora: evidence from the Balkans to the Iberian Peninsula
The Roma people have a complex demographic history shaped by their recent dispersal from a South Asian origin into Europe,...
Critical assessment of missense variant effect predictors on disease-relevant variant data
Critical assessment of missense variant effect predictors on disease-relevant variant data
Regular, systematic, and independent assessments of computational tools that are used to predict the pathogenicity of miss...
Congenital enteropathy caused by ezrin deficiency
Congenital enteropathy caused by ezrin deficiency
Ezrin, encoded by EZR, is a central module of epithelial polarity and links membrane proteins to the actin cytoskeleton di...
Accelerating genetic diagnostics in retinitis pigmentosa: implementation of a semi-automated bespoke cohort analysis workflow for Hong Kong Genome Project
Accelerating genetic diagnostics in retinitis pigmentosa: implementation of a semi-automated bespoke cohort analysis workflow for Hong Kong Genome Project
The study aims to enhance the efficiency of the genetic variant curation process at the Hong Kong Genome Institute by deve...
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...
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