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Novel FBN1 intron variant causes isolated ectopia lentis via in-frame exon skipping
Novel FBN1 intron variant causes isolated ectopia lentis via in-frame exon skipping
Mutations in fibrillin-1 (FBN1) cause various clinical conditions, such as Marfan syndrome (MFS). However, the genotype...
Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome
Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome
The Verloes or Hale diagnostic criteria have been applied for diagnosing CHARGE syndrome in suspected patients. This study...
Germline mosaicism in TCF20-associated neurodevelopmental disorders: a case study and literature review
Germline mosaicism in TCF20-associated neurodevelopmental disorders: a case study and literature review
Autosomal dominant variants in transcription factor 20 (TCF20) can result in TCF20-associated neurodevelopmental disorder ...
Translocation-specific polymerase chain reaction in preimplantation genetic testing for recurrent translocation carrier
Translocation-specific polymerase chain reaction in preimplantation genetic testing for recurrent translocation carrier
It is occasionally necessary to distinguish balanced reciprocal translocations from normal diploidy since balanced carrier...
Acknowledgment to the reviewers in 2024
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Functional verification and allele-specific silencing of a novel AKT3 variant that causes megalencephaly, polymicrogyria and intractable epilepsy
Functional verification and allele-specific silencing of a novel AKT3 variant that causes megalencephaly, polymicrogyria and intractable epilepsy
AKT3, a key component of the PI3K-AKT-MTOR pathway, is highly expressed in the brain, and its activating variants cause me...
Molecular gene signature of circulating stromal/stem cells
Molecular gene signature of circulating stromal/stem cells
The human skeleton is renewed and regenerated throughout life, by a cellular process known as bone remodeling. Stem cells ...
A step forward in genetic counselling: defining practice and ethics through the Genetic Counselling Practice Consortium in Hong Kong
A step forward in genetic counselling: defining practice and ethics through the Genetic Counselling Practice Consortium in Hong Kong
Genetic counselling plays a crucial role in the genomic era, assisting in disease risk determination, diagnosis and manage...
Healthy lifestyle practice correlates with decreased obesity prevalence in individuals with high polygenic risk: TMM CommCohort study
Healthy lifestyle practice correlates with decreased obesity prevalence in individuals with high polygenic risk: TMM CommCohort study
Obesity and overweight, fundamental components of the metabolic syndrome, predispose individuals to lifestyle-related dise...
Artificial intelligence in medical genomics
Artificial intelligence (AI) and machine learning (ML) are rapidly growing and becoming essential res...
Investigating common mutations in ATP7B gene and the prevalence of Wilson’s disease in the Thai population using population-based genome-wide datasets
Wilson’s disease (WD) is a rare metabolic disorder caused by variations in the ATP7B gene. It usually manifests hepa...
Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286 T > C identified as a hotspot mutation in Chinese patients with a stable natural history
Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286 T > C identified as a hotspot mutation in Chinese patients with a stable natural history
Mutations in IBA57 disrupt iron-sulfur clusters maturation, causing a rare mitochondrial disease. Clinical manifestations ...
Nationwide survey of the secondary findings in cancer genomic profiling: survey including liquid biopsy
Nationwide survey of the secondary findings in cancer genomic profiling: survey including liquid biopsy
We surveyed the status of the secondary finding (SF) disclosure in comprehensive genome profiling (CGP) in 2020. The situa...
Correction: Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome-
Correction: Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome-
Department of Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Ja...
Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation
Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation
TXNDC15 encodes thioredoxin domain-containing protein 15, a protein disulfide isomerase that plays a role in ciliogenesis....
Development of a method for the imputation of the multi-allelic serotonin-transporter-linked polymorphic region (5-HTTLPR) in the Japanese population
Development of a method for the imputation of the multi-allelic serotonin-transporter-linked polymorphic region (5-HTTLPR) in the Japanese population
Serotonin-transporter-linked polymorphic region (5-HTTLPR), a variable number of tandem repeats in the promoter region of ...
Fundamentals for predicting transcriptional regulations from DNA sequence patterns
Fundamentals for predicting transcriptional regulations from DNA sequence patterns
Cell-type-specific regulatory elements, cataloged through extensive experiments and bioinformatics in large-scale consorti...
A novel pathogenic mitochondrial DNA variant m.4344T>C in tRNAGln causes developmental delay
A novel pathogenic mitochondrial DNA variant m.4344T>C in tRNAGln causes developmental delay
Mitochondrial diseases are a group of genetic diseases caused by mutations in mitochondrial DNA and nuclear DNA. However, ...
FBXO11 variants are associated with intellectual disability and variable clinical manifestation in Chinese affected individuals
FBXO11 variants are associated with intellectual disability and variable clinical manifestation in Chinese affected individuals
F-box protein 11 (FBXO11) is a member of F-Box protein family, which has recently been proved to be associated with intell...
Homozygous variant in DRC3 (LRRC48) gene causes asthenozoospermia and male infertility
Homozygous variant in DRC3 (LRRC48) gene causes asthenozoospermia and male infertility
Human infertility affects 10–15% of couples. Asthenozoospermia accounts for 18% of men with infertility and is a com...
Hexanucleotide repeat expansion in SCA36 reduces the expression of genes involved in ribosome biosynthesis and protein translation
Hexanucleotide repeat expansion in SCA36 reduces the expression of genes involved in ribosome biosynthesis and protein translation
Hereditary spinocerebellar ataxia (SCA) is a group of clinically and genetically heterogeneous inherited disorders charact...
Clinical and molecular characteristics of Korean patients with Kabuki syndrome
Clinical and molecular characteristics of Korean patients with Kabuki syndrome
Kabuki syndrome (KS) is a rare disorder characterized by typical facial features, skeletal anomalies, fetal fingertip pad ...
Genetic association mapping leveraging Gaussian processes
Genetic association mapping leveraging Gaussian processes
Gaussian processes (GPs) are a powerful and useful approach for modelling nonlinear phenomena in various scientific fields...
The recommendation of re-classification of variants of uncertain significance (VUS) in adult genetic disorders patients
The recommendation of re-classification of variants of uncertain significance (VUS) in adult genetic disorders patients
Since variants of uncertain significance (VUS) reported in genetic testing cannot be acted upon clinically, this classific...
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...
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