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A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities
A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities
Ubiquitin-specific protease 8 (USP8) is a deubiquitinating enzyme involved in deubiquitinating the enhanced epidermal grow...
A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C
A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C
Pontocerebellar hypoplasia (PCH) is a rare heterogeneous neurodegenerative disorder affecting the pons and cerebellum and ...
Identification of potential disease-associated variants in idiopathic generalized epilepsy using targeted sequencing
Identification of potential disease-associated variants in idiopathic generalized epilepsy using targeted sequencing
Many questions remain regarding the genetics of idiopathic generalized epilepsy (IGE), a subset of genetic generalized epi...
Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders
Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders
SLC5A6 encodes the sodium-dependent multivitamin transporter, a transmembrane protein that uptakes biotin, pantothenic aci...
JHG Young Scientist Award 2023
JHG Young Scientist Award recognizes articles by young researchers that have made significant contributio...
Integrated omics analyses clarifies ATRX copy number variant of uncertain significance
Integrated omics analyses clarifies ATRX copy number variant of uncertain significance
Partial duplications of genes can be challenging to detect and interpret and, therefore, likely represent an underreported...
Diversity of thought: public perceptions of genetic testing across ethnic groups in the UK
Diversity of thought: public perceptions of genetic testing across ethnic groups in the UK
Genetic testing is becoming rapidly more accessible to the general populous either through or outside healthcare systems. ...
Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1
Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1
Zic family member 1 (ZIC1), a gene located on chromosome 3q24, encodes a transcription factor with zinc finger domains tha...
Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers
Balanced chromosomal translocation is one of chromosomal variations. Carriers of balanced chromosomal translocations have ...
Two novel CHN1 variants identified in Duane retraction syndrome pedigrees disrupt development of ocular motor nerves in zebrafish
Two novel CHN1 variants identified in Duane retraction syndrome pedigrees disrupt development of ocular motor nerves in zebrafish
Duane retraction syndrome (DRS) is a rare congenital eye movement disorder causing by the dysplasia of abducens nerve, and...
Prevalence of repeat expansions causing autosomal dominant spinocerebellar ataxias in Hokkaido, the northernmost island of Japan
Prevalence of repeat expansions causing autosomal dominant spinocerebellar ataxias in Hokkaido, the northernmost island of Japan
In Japan, approximately 30% of spinocerebellar degeneration (SCD) is hereditary, and more than 90% of hereditary SCD is au...
Angiogenesis related genes in Takayasu Arteritis (TAK): robust association with Tag SNPs of IL-18 and FGF-2 in a South Asian Cohort
We performed genetic association study for genes encoding angiogenic and angiostatic proteins in patients with Takayasu ar...
Analysis of complex chromosomal rearrangement involving chromosome 6 via the integration of optical genomic mapping and molecular cytogenetic methodologies
Analysis of complex chromosomal rearrangement involving chromosome 6 via the integration of optical genomic mapping and molecular cytogenetic methodologies
Complex chromosomal rearrangements (CCRs) can result in spontaneous abortions, infertility, and malformations in newborns....
Whole exome sequencing and transcriptome analysis in two unrelated patients with novel SET mutations
Whole exome sequencing and transcriptome analysis in two unrelated patients with novel SET mutations
The human SET nuclear proto-oncogene (SET) gene is a protein-coding gene that encodes proteins that affects chromatin remo...
Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17
Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17
Spinocerebellar ataxia, autosomal recessive-17 (SCAR17) is a rare hereditary ataxia characterized by ataxic gait, cerebell...
Functional evaluation of BRCA1/2 variants of unknown significance with homologous recombination assay and integrative in silico prediction model
Functional evaluation of BRCA1/2 variants of unknown significance with homologous recombination assay and integrative in silico prediction model
Numerous variants of unknown significance (VUSs) exist in hereditary breast and ovarian cancers. Although multiple methods...
Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle
Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle
Heterozygous deleterious variants in SKI cause Shprintzen–Goldberg Syndrome, which is mainly characterized by cranio...
Compound heterozygous variants of THG1L result in autosomal recessive cerebellar ataxia
Compound heterozygous variants of THG1L result in autosomal recessive cerebellar ataxia
tRNA-histidine guanyltransferase 1-like protein (THG1L), located in the mitochondria, plays a crucial role in the tRNA mat...
Interaction between the GCKR rs1260326 variant and serum HDL cholesterol contributes to HOMA-β and ISIMatusda in the middle-aged T2D individuals
Interaction between the GCKR rs1260326 variant and serum HDL cholesterol contributes to HOMA-β and ISIMatusda in the middle-aged T2D individuals
This study aims to investigate the correlations between islet function/ insulin resistance and serum lipid levels, as well...
Correction: Genetics of autism spectrum disorders and future direction
Authors and AffiliationsLife Grow Blliliant Mental Clinic, Medical Corporation Foster, Osaka, JapanYuka YasudaDepartment o...
Deciphering the genetic landscape of obesity: a data-driven approach to identifying plausible causal genes and therapeutic targets
Deciphering the genetic landscape of obesity: a data-driven approach to identifying plausible causal genes and therapeutic targets
Genome-wide association studies (GWAS) have successfully revealed numerous susceptibility loci for obesity. However, ident...
Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation
Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation
Benign adult familial myoclonic epilepsy type 1 (BAFME1) is an autosomal dominant, adult-onset neurological disease caused...
Application of the PGT-M strategy using single sperm and/or affected embryos as probands for linkage analysis in males with hereditary tumor syndromes without family history
Application of the PGT-M strategy using single sperm and/or affected embryos as probands for linkage analysis in males with hereditary tumor syndromes without family history
Hereditary tumor syndromes have garnered substantial attention due to their adverse effects on both the physical and psych...
Proteome-wide mendelian randomization identifies causal plasma proteins in venous thromboembolism development
Proteome-wide mendelian randomization identifies causal plasma proteins in venous thromboembolism development
Genome-wide association studies (GWAS) have identified numerous risk loci for venous thromboembolism (VTE), but it is chal...
Assessment of whole-exome sequencing results in neurogenetic diseases
Assessment of whole-exome sequencing results in neurogenetic diseases
Neurogenetic diseases are rare genetic diseases in which neurological findings are prominent. Whole exome sequencing (WES)...
Exploring the molecular and clinical spectrum of COVID-19-related acute necrotizing encephalopathy in three pediatric cases
Exploring the molecular and clinical spectrum of COVID-19-related acute necrotizing encephalopathy in three pediatric cases
Acute necrotizing encephalopathy (ANE) is a rare disease that predominantly affects children and is associated with a high...
Novel compound heterozygous mutation and phenotype in the tetratricopeptide repeat-like domain of the GEMIN5 gene in two Chinese families
Novel compound heterozygous mutation and phenotype in the tetratricopeptide repeat-like domain of the GEMIN5 gene in two Chinese families
GEMIN5 is an RNA-binding protein that regulates multiple molecular functions, including splicing, localisation, translatio...
Demographic history of Ryukyu islanders at the southern part of the Japanese Archipelago inferred from whole-genome resequencing data
Demographic history of Ryukyu islanders at the southern part of the Japanese Archipelago inferred from whole-genome resequencing data
The Ryukyu Islands are located in the southernmost part of the Japanese Archipelago and consist of several island groups. ...
Positive association between serum resistin and smoking was strongest in homozygotes of the G-A haplotype at c.-420 C>G and c.-358 G>A in RETN promoter: the Toon Genome Study
Positive association between serum resistin and smoking was strongest in homozygotes of the G-A haplotype at c.-420 C>G and c.-358 G>A in RETN promoter: the Toon Genome Study
Resistin is mainly expressed in human monocytes/macrophages and is associated with insulin resistance, inflammation, and a...
Identification of small-sized intrachromosomal segments at the ends of INV–DUP–DEL patterns
Identification of small-sized intrachromosomal segments at the ends of INV–DUP–DEL patterns
The mechanism of chromosomal rearrangement associated with inverted–duplication–deletion (INV–DUP–...
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