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

2024-9-3

Investigating common mutations in ATP7B gene and the prevalence of Wilson’s disease in the Thai population using population-based genome-wide datasets

2024-8-28

Artificial intelligence in medical genomics

2024-8-27

Healthy lifestyle practice correlates with decreased obesity prevalence in individuals with high polygenic risk: TMM CommCohort study

2024-8-22

Hydrops fetalis due to loss of function of hNav1.4 channel via compound heterozygous variants

2024-8-21

Contribution of rare variants to heritability of a disease is much greater than conventionally estimated: modification of allele distribution model

2024-8-20

A novel homozygous nonsense variant of STX2 underlies non-obstructive azoospermia in a consanguineous Chinese family

2024-8-19

A 3000-year-old founder variant in the DRC1 gene causes primary ciliary dyskinesia in Japan and Korea

2024-8-16

Japanese Public Health Insurance System’s new genomic strategic action to shorten the “diagnostic odyssey” for patients with rare and intractable diseases

2024-8-15

The genetic architecture of age at menarche and its causal effects on other traits

2024-8-15

Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield

2024-8-9

Reciprocal chromosome translocation t(3;4)(q27;q31.2) with deletion of 3q27 and reduced FBXW7 expression in a patient with developmental delay, hypotonia, and seizures

2024-8-9

Efficient HLA imputation from sequential SNPs data by transformer

2024-8-2

Genome analysis through image processing with deep learning models

2024-7-31

An application supporting diagnosis for rare genetic diseases – UR-DBMS and Syndrome Finder –

2024-7-31

A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia

2024-7-31

INTS11-related neurodevelopmental disorder: a case report and literature review

2024-7-19

Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome-

2024-7-18

Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati–Engelmann disease type II

2024-7-16

Identification of epistatic SNP combinations in rheumatoid arthritis using LAMPLINK and Japanese cohorts

2024-7-16

Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein

2024-7-11

Genomic variants associated with age at diagnosis of childhood-onset type 1 diabetes

2024-7-10

Ethnic-specific genetic susceptibility loci for endometriosis in Taiwanese-Han population: a genome-wide association study

2024-7-9

Investigating druggable kinases for targeted therapy in retinoblastoma

2024-7-1

A novel heterozygous TMEM63A variant in a familial case with early onset nystagmus, severe hypomyelination, and a favorable adult prognosis

2024-7-1

Association of Crohn’s disease and ulcerative colitis with the risk of neurological diseases: a large-scale Mendelian randomization study

2024-7-1

Two-stage strategy using denoising autoencoders for robust reference-free genotype imputation with missing input genotypes

2024-6-25

A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures

2024-6-20

Whole genome sequencing of families diagnosed with cardiac channelopathies reveals structural variants missed by whole exome sequencing

2024-6-18

Genotypic and phenotypic characteristics of sodium channel—associated epilepsy in Chinese population

2024-6-17

Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxia

2024-6-12

The recommendation of re-classification of variants of uncertain significance (VUS) in adult genetic disorders patients

2024-6-5

Genetic association mapping leveraging Gaussian processes

2024-6-4

Clinical and molecular characteristics of Korean patients with Kabuki syndrome

2024-6-1

Hexanucleotide repeat expansion in SCA36 reduces the expression of genes involved in ribosome biosynthesis and protein translation

2024-5-29

Homozygous variant in DRC3 (LRRC48) gene causes asthenozoospermia and male infertility

2024-5-20

FBXO11 variants are associated with intellectual disability and variable clinical manifestation in Chinese affected individuals

2024-5-13

A novel pathogenic mitochondrial DNA variant m.4344T>C in tRNAGln causes developmental delay

2024-5-10

Fundamentals for predicting transcriptional regulations from DNA sequence patterns

2024-5-10

Exploring the relationship between admixture and genetic susceptibility to attention deficit hyperactivity disorder in two Latin American cohorts

2024-5-7

Prevalence of FSH-R Asn680Ser and Ala307Thr receptor polymorphism and their correlation with ART outcomes among infertile Indian-Asian women-a prospective cohort study

2024-4-25

Mediation role of DNA methylation in association between handgrip strength and cognitive function in monozygotic twins

2024-4-23

Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases

2024-4-18

Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7

2024-4-11

Long-term course of a case with a novel homozygous kyphoscoliosis peptidase variant

2024-4-8

Heritability of complex traits in sub-populations experiencing bottlenecks and growth

2024-4-8

Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review

2024-4-2

Correction: Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population

2024-3-29

Visit to visit transition in TXNIP gene methylation and the risk of type 2 diabetes mellitus: a nested case-control study

2024-3-25

A mediation analysis framework based on variance component to remove genetic confounding effect

2024-3-25