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Frontiers in genetics
- Co-occurrence of Gitelman syndrome and turner syndrome: a Case Report and literature review
- Beyond CCR5 and HLA: rare genetic variants in HIV acquisition and disease progression
- Biallelic RSPH4A loss-of-function variants cause primary ciliary dyskinesia in a Chinese patient
- Correction: Genetic determinants of age-related macular degeneration in Middle Eastern populations: a systematic review
- Novel deep intronic variants in NTRK1 underlying congenital insensitivity to pain with anhidrosis
- Homozygous familial hypercholesterolemia, experience with Evinacumab treatment in two Mexican pediatric patients: case report
- Case Report: Novel homozygous pathogenic variant of the SPG20 gene causes the Troyer syndrome in China
- Integrated hearing and genetic screening for neonatal deafness in a resource-limited region: insights from Qingyuan, China
- The value of third-generation sequencing for neonatal screening of thalassemia in the Yulin region of Southern China
- A comparative study of SNPscan/CNVplex assay and routine PCR in genetic analysis of thalassemia
- Screening of glucose-6-phosphate dehydrogenase deficiency in a cohort of 215,137 newborns: an epidemiological and pathogenic variant spectrum study in Yueyang, China
- Stepwise genetic testing strategy identified pathogenic variants in 10 Chinese duchenne muscular dystrophy patients
- Case Report: Identification of two novel ALMS1 variants in a patient with a ciliopathy resembling Alström syndrome
- Short CAG repeat variation as a regulatory factor in health and disease
- Potential role of the Trpv4 c.1491+1G>A mutation in pulmonary fibrosis in a gene-edited mouse model
- Efficacy of long-acting growth hormone in Axenfeld-Rieger syndrome with a novel 3.824 Mb 4q25 deletion: a Case Report and systematic literature review
- Novel variants in LSS related hypotrichosis simplex 14
- A de novo heterozygous PSTPIP1 variant associated with PAPA syndrome: a Chinese case report and literature review
- Case Report: clinical manifestations and imaging features associated with PANK2 c.940C>T variant in PKAN with symmetric basal ganglia calcification
- Case Report: Deciphering a de novo complex chromosomal rearrangement causing premature ovarian insufficiency, short stature, and mild intellectual disability using long-read sequencing
- From genes to generations: genetic evaluation and counseling for infertility and pregnancy loss
- Genetic heterogeneity correlated with phenotypic variability in 6 Chinese families with Alport syndrome
- Case report: novel DNAH11 compound heterozygous variants including an exon 30–54 duplication in a child with a highly suggestive primary ciliary dyskinesia phenotype
- Pathogenic mechanisms of RPGR mutations in X-linked retinitis pigmentosa: integrating clinical pedigree and single-cell transcriptomics
- Glycogenin-1 deficiency: a case report and review of the literature
- A 3′UTR polymorphism disrupts IRF2BP2 autoregulation through an eIF4H translational enhancer
- A missense variant in Exon 9 of the ASNS gene causes splicing abnormality in an Infant with asparagine synthetase deficiency
- Case Report: A case series of using whole exome sequencing to detect novel variants in Vietnamese patients with inborn errors of immunity
- Ischemic stroke as an initial manifestation of Loeys-Dietz syndrome type 3 caused by the recurrent p.Arg287Trp variant in SMAD3: a case report with familial context
- Case Report: a novel PNPLA2 homozygous frameshift variant causing severe neutral lipid storage disease with myopathy (NLSDM) in a Moroccan patient
- Eight-year follow-up of phenotypic progression in a Chinese XLRP pedigree with a novel RP2 gene mutation
- Episignature leads to diagnosis and reclassification of DYRK1A variant in a child with syndromic neurodevelopmental disorder: a case report
- Case Report: Two siblings with a novel homozygous SLC18A2 variant causing parkinsonism-dystonia-2: a case series from Saudi Arabia
- Case report: Whole-exome sequencing reveals a novel variant in a patient with epilepsy presenting with fever
- Precision diagnosis of GABRA1-associated encephalopathies and epilepsy: optimizing variants classification and molecular subregional effects
- An integrative genetic and transcriptomic study reveals a causal link and candidate biomarkers between tuberculosis and asthma
- Multi-omics mendelian randomization integrating GWAS and eQTL data revealed potential drug target for irritable bowel syndrome
- MYBPC1-associated congenital myopathy with tremor: further delineation of the clinical and pathological phenotype in the first Italian case
- Clinical characterization and molecular analysis of X-linked juvenile retinoschisis in a northern Chinese cohort
- Evaluation of the contribution of trio-exome sequencing in selected prenatal indications
- High prevalence of Hb Q-Thailand not in cis with the -α4.2 deletion: genotypes, phenotypes, and implications in the cenxi population of southern China
- Genetic determinants of age-related macular degeneration in Middle Eastern populations: a systematic review
- 21 novel pathogenic variants identified in a cohort of 77 Chinese families with osteogenesis imperfecta
- Clinical outcomes of preimplantation genetic testing for structural rearrangements in couples with chromosomal inversions: a retrospective analysis
- Decoding thalassemia and sickle cell disease: advances in molecular technologies for comprehensive variant detection
- Polydactyly and syndactyly in a Chinese family with Floating-Harbor syndrome: an expansion of the clinical phenotype
- Case report: co-inheritance of familial lecithin-cholesterol acyltransferase deficiency and α0-Thalassemia
- 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
