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Reclassification of variants of uncertain significance in neonatal genetic diseases: implications from a clinician’s perspective
Reclassification of variants of uncertain significance in neonatal genetic diseases: implications from a clinician’s perspective
Although whole-exome sequencing (WES) is now widely used to diagnose neonatal genetic diseases, the genetic causes in over...
ACMG secondary findings in the Brazilian rare genomes project: insights from 5402 genome sequencing
ACMG secondary findings in the Brazilian rare genomes project: insights from 5402 genome sequencing
Secondary findings (SF) are pathogenic or likely pathogenic variants in genes unrelated to the primary purpose of genetic ...
The impact of public insurance on RRSO for HBOC in Japan: a nationwide data study
The impact of public insurance on RRSO for HBOC in Japan: a nationwide data study
In Japan, risk management based on genetic disposition, such as risk-reducing surgery for hereditary breast and ovarian ca...
Bi-allelic KCTD19 variants associated with meiotic arrest and non-obstructive azoospermia in humans
Bi-allelic KCTD19 variants associated with meiotic arrest and non-obstructive azoospermia in humans
Non-obstructive azoospermia (NOA) represents the severe form of male infertility, affecting approximately 1% of men during...
Novel susceptibility gene SLC23A2 functions via PI3K-AKT-mTOR pathway in etiology of non-syndromic cleft palate
Novel susceptibility gene SLC23A2 functions via PI3K-AKT-mTOR pathway in etiology of non-syndromic cleft palate
The biological interactions between genetic and environmental modifiers play critical roles in the etiology of non-syndrom...
The prevalence of laterality defects in patients with congenital heart disease
The prevalence of laterality defects in patients with congenital heart disease
Congenital heart disease (CHD) affects approximately 1% of liveborn infants. Among primary ciliary dyskinesia (PCD) cases,...
Assessment of different promoters in lentiviral vectors for expression of the N-acetyl-galactosamine-6-sulfate sulfatase gene
Assessment of different promoters in lentiviral vectors for expression of the N-acetyl-galactosamine-6-sulfate sulfatase gene
Mucopolysaccharidosis IVA (MPS IVA) is caused by pathogenic variants in the GALNS gene encoding N-acetylgalactosamine-6-su...
Microcephaly-related global developmental delay caused by a pathogenic METTL5 splicing mutation in a Chinese family
Microcephaly-related global developmental delay caused by a pathogenic METTL5 splicing mutation in a Chinese family
Microcephaly-related global developmental delay (GDD) and intellectual disability (ID) are characterized by a broad spectr...
Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population
Carrier screening is important to people have a higher prevalence of severe recessive or X-linked genetic conditions. This...
Prediction of protein structure and AI
Prediction of protein structure and AI
AlphaFold, an artificial intelligence (AI)-based tool for predicting the 3D structure of proteins, is now widely recognize...
C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations
C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations
IQSEC2 gene on chromosome Xq11.22 encodes a member of guanine nucleotide exchange factor (GEF) protein that is implicated ...
Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling
Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling
Aromatic l-amino acid decarboxylase (AADC) deficiency is an autosomal recessive neurotransmitter disorder caused by pathog...
CRYAB stop-loss variant causes rare syndromic dilated cardiomyopathy with congenital cataract: expanding the phenotypic and mutational spectrum of alpha-B crystallinopathy
CRYAB stop-loss variant causes rare syndromic dilated cardiomyopathy with congenital cataract: expanding the phenotypic and mutational spectrum of alpha-B crystallinopathy
Missense mutations in the alpha-B crystallin gene (CRYAB) have been reported in desmin-related myopathies with or without ...
Genotype imputation methods for whole and complex genomic regions utilizing deep learning technology
Genotype imputation methods for whole and complex genomic regions utilizing deep learning technology
The imputation of unmeasured genotypes is essential in human genetic research, particularly in enhancing the power of geno...
A comparative study on riboflavin responsive multiple acyl-CoA dehydrogenation deficiency due to variants in FLAD1 and ETFDH gene
A comparative study on riboflavin responsive multiple acyl-CoA dehydrogenation deficiency due to variants in FLAD1 and ETFDH gene
Lipid storage myopathy (LSM) is a heterogeneous group of lipid metabolism disorders predominantly affecting skeletal muscl...
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability
The gene for ATP binding cassette subfamily A member 2 (ABCA2) is located at chromosome 9q34.3. Biallelic ABCA2 variants l...
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...
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