Frontiers in genetics
- Identification and functional analysis of NAD+ metabolism-related gene NT5E in pulmonary hypertension
- Multi-omics analysis to identify the dynamic changes of immune cells and marker genes in renal fibrosis
- Functional inactivation of MDR3 caused by a homozygous ABCB4 missense variant leading to liver failure
- Genetic association of LOC100130476 rs80213143 with susceptibility and renal involvement in systemic lupus erythematosus
- TTN variants in pediatric cardiomyopathy: a retrospective cohort study
- Expanding the clinical and mutational spectrum of hereditary spastic paraplegia type 4 in a cohort of patients from central China
- Case Report: Prenatal genetic analysis of a rare fetus with 45, X/46, X, dic r (Y; Y)/46, X, r(Y) karyotype
- Case Report: Novel pathogenic variant in autosomal recessive WNT10A-related odonto-onycho-dermal dysplasia
- Developmental and epileptic encephalopathies with germline PIGA variants in five Chinese children: a case report and literature review
- Genetic aetiology of global developmental delay and intellectual disability in Africa: a scoping review
- CFTR gene variant detection in moroccan individuals via nanopore long-read sequencing
- ORMDL3: from an asthma susceptibility gene to multi-disease associations
- Novel splice-site variants in TMPRSS3 impair hearing via exon skipping and abrogated protease activity
- A novel pathogenic APC variant identified in a Chinese pedigree with familial adenomatous polyposis
- Case Report: Type II tyrosinemia caused by mutations at the c.843_844 inv p.(Trp282Gly) variant locus
- Editorial: Inborn errors of carbohydrate metabolism volume II
- Case Report: Biallelic PADI6 frameshift variants contribute to preimplantation embryonic lethality
- SOX9 gene anomalies and campomelic / acampomelic campomelic dysplasia: case report and literature review
- Identification of gene expression signatures associated with neuroinflammation in discogenic sciatica using machine learning and experimental validation
- Co-occurring DMD, GJA1, and novel FYCO1 variants in a proband from a consanguineous oculodentodigital dysplasia family: a rare multi-locus case report
- Exploring the strengths and limitations of AI-driven variant prioritization versus manual curation in inborn errors of immunity
- Defects in PDIA4 increase individuals’ susceptibility to congenital heart disease
- Lung scRNA-seq reveals chronic inflammation and emphysemous phenotype in mice with osteogenesis imperfecta
- Prognosis of pediatric restrictive cardiomyopathy: more severe in sarcomeric variants
- Genetic analysis and clinical characteristics of sporadic and familial congenital cataracts in southern Chinese families
- Novel APC promoter 1B variant associated with gastric adenocarcinoma and proximal polyposis of the stomach: a case report
- Clinical and genetic features of hereditary transthyretin amyloidosis with polyneuropathy in China: insights from case analysis and literature review
- Case Report: Identification of a de novo missense variant in the N-terminal zinc-finger domain of ZEB2 in a patient presenting with neurodevelopmental delay and recurrent pulmonary infections
- Delineating the trajectory of adult chronic diseases and healthcare use for 22q11.2 microdeletion in a general population context
- Genetic polymorphisms of the CDC27 gene are associated with susceptibility and outcomes of non-syndromic congenital heart disease: a bi-ethnic case–control study in Chinese populations
- Identification and functional analysis of a novel TRAPPC2 intronic variant in a four-generation Chinese pedigree with SEDT
- Correction: BAG3-related myofibrillar myopathy: focus on its cardiac involvement
- Identification and functional characterization of a novel pathogenic COL1A1 splicing variant in a Chinese family with osteogenesis imperfecta
- POLR3A-related syndrome complicated with cerebral abscesses: a case report and literature review
- Clinical and genetic characteristics of rare congenital adrenal hyperplasia: a retrospective analysis in a Chinese population
- Analyzing the genetic profile of autistic children and adolescents with minimal verbal abilities
- Adult-onset vanishing white matter disease caused by the EIF2B5 c.185A>T (p.Asp62Val) variant
- Case Report: Novel ADAMTSL2 compound heterozygous mutations in geleophysic dysplasia with bilateral glaucoma and keratoconus-like corneal ectasia
- Case Report: Clinical and genetic analysis of a family with hereditary spherocytosis combined with familial chylomicronemia syndrome
- An intronic micro-deletion impacts the transcription and translation of PKD1 gene
- Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain
- Phenotype and genotype of hypophosphatasia cases in Saudi Arabia: multi-center case cohort
- Multiple susceptibility enhancer variants increasing ADD3 expression predisposes to biliary atresia risk
- Coffin–Lowry syndrome: a systematic review of RPS6KA3 confirmed cases and implications for diagnosis and counseling
- Retrospective analysis of non-invasive prenatal testing: a population study involving 19,835 participants in the Shaoyang area
- Case Report: Novel GLA mutation in a Chinese female with renal-predominant Fabry disease and cardiac hypertrophy
- Case Report: Myoclonic and tremulous movements associated with COQ8A-related coenzyme Q10 deficiency type 4
- TPM1-p.E181K mutation suppresses CaMKII/HDAC4 signaling pathway leading to pediatric restrictive cardiomyopathy
- Genomic and ancestral variations linked to the development of post-acute sequelae of SARS-CoV-2 infection in Indian populations
- Familial multiple fetal cerebral arteriovenous malformations: a case report of maternal genetic susceptibility and fetal manifestation
- Expanding the mutational spectrum of congenital microcephaly in Pakistani families
- Case Report: genotype–phenotype correlations in FLNA mutations: insights from a case of multisystem dysfunction
- Retinitis pigmentosa and sensorineural deafness associated with a de novo DHX16 mutation: case report
- Correction: Identification of a novel ANK1 gene variant c.1504-9G>A and its mechanism of intron retention in hereditary spherocytosis
- Application of next-generation sequencing to determine mutations in candidate genes for congenital eye malformations in the Mexican indigenous population
- rs9789446 genotype as susceptibility biomarkers for congenital hypothyroidism based on population and family validation
- Case Report: UMOD gene mutation and phenotypic overlap with REN in autosomal dominant tubulointerstitial kidney disease
- Expanding the spectrum of NUS1-related progressive myoclonic epilepsy: a novel variant and exploratory use of metformin
- LRRC56 deficiency cause motile ciliopathies in humans and mice
- Neonatal-onset familial hemophagocytic lymphohistiocytosis: a case report with genetic confirmation of PRF1 mutations
- A transcriptomic atlas at bulk and single-cell levels identifies novel transcriptional and splicing regulators of ECM homeostasis in osteoarthritis
- Early onset Arboleda-Tham syndrome due to KAT6A variants: Case report
- Optical genome mapping uncovers clinically relevant structural variants in congenital heart disease with heterotaxy
- Correction: Individual and combined effects of the GSTM1, GSTT1, and GSTP1 polymorphisms on type 2 diabetes mellitus risk: a systematic review and meta-analysis
- Correction: MAPT mutation-induced behavioral variant frontotemporal dementia in an Asian patient: a multimodal biomarker case report resolving diagnostic challenges with Alzheimer’s disease
- Type 1 Bartter syndrome presenting as primary diabetes insipidus: a rare Case Report with 8-year follow-up
- Case Report: developmental delay and intellectual disability linked to a maternally inherited derivative chromosome 3 from a t(3;8) translocation
- Correction: Validation of a genome-wide polygenic score for body mass index in South Asians
- BAG3-related myofibrillar myopathy: focus on its cardiac involvement
- Application of trio-based whole-exome sequencing in fetal ultrasound anomalies: a single-center retrospective study of 454 cases
- Case Report: Mild BRIC-like cholestasis despite a gross USP53 deletion—novel findings and literature review
- Why all MODY variants in transcription factor genes are dominantly inherited
- FTO rs9939609 and rs17817449 polymorphisms contribute to metabolic syndrome risk by increasing triglyceride and glucose levels
- MAPT mutation-induced behavioral variant frontotemporal dementia in an Asian patient: a multimodal biomarker case report resolving diagnostic challenges with Alzheimer’s disease
- Potential marker genes for psoriasis revealed based on single-cell sequencing and Mendelian randomization analysis
- Phenotype and genetic variation analysis of primary congenital lymphedema caused by FLT4 gene mutations in a fetus
- Case Report: Identification and functional characterization of a novel heterozygous splice-donor (c.647+1G>A) site mutation in the SPTB gene that causes hereditary spherocytosis with hemolytic anemia
- Familial Xq27.1q28 duplication arising from a maternal interarm forward insertion of the X chromosome: a case report
- Novel variant in PNPLA6 gene causes Oliver-McFarlane syndrome in a Chinese family: 13 years follow-up
- Computational-experimental strategy identifies Co-upregulated biomarkers linking coronary heart disease and type 2 diabetes pathogenesis
- Case Report: Compound heterozygous CEP152 c.3346-5T>C variant and chr15 deletion causing recurrent MCPH–SCKS in a Chinese pregnant woman across two consecutive pregnancies
- Germline activating sequence variations in RASopathy spectrum genes: genotype–phenotype correlation in a North Indian cohort
- Mechanistic insights into NFIX frameshift mutations in Malan syndrome: proteasomal degradation-mediated haploinsufficiency
- Precision genomic profiling in Gaucher disease: insights from atypical presentations
- Case Report: Whole-exome sequencing revealed a de novo variant in SETBP1 gene in a Chinese family with developmental delay
- Correction: A novel splicing variant in NBAS identified by minigene assay causes infantile liver failure syndrome type 2
- Case Report: autosomal dominant distal motor neuropathy as a new phenotype of KIF21A-related disorders
- A rare case of de novo 20p12.3 microdeletion syndrome in a nine-year-old female: case report and literature review
- Case Report: D-bifunctional protein deficiency caused by novel compound heterozygote HSD17B4 variants in a neonate in China
- Case Report: Novel compound heterozygous mutations in PNPLA6 gene associated with Oliver-McFarlane syndrome
- Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature
- Functional polymorphisms of NOS3 and GUCY1A3 affect both nitric oxide formation and association with hypertensive disorders of pregnancy
- Brain function in classic galactosemia, a galactosemia network (GalNet) members review
- Corrigendum: Case report: De novo mutation of a-galactosidase A in a female patient with end-stage renal disease: report of a case of late diagnosis of Anderson–Fabry disease
- MECP2-related disorders while gene-based therapies are on the horizon
- Spectrum of genetic variants in bilateral sensorineural hearing loss
- Novel FOXL2 variants in two Chinese families with blepharophimosis, ptosis, and epicanthus inversus syndrome
- Case report: Preimplantation genetic testing for infantile GM1 gangliosidosis
- Prevalence of inherited metabolic disorders among newborns in Zhuzhou, a southern city in China
- Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome
