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Frontiers in genetics
- Hemoglobinopathy diagnosis in LMICs: from hematological screening to molecular confirmation
- Longitudinal characterization of a Leigh-like presentation associated with the MT-ND4 m.11470A>C variant
- Case Report: MYBPC1-associated congenital myopathy with tremor (CMYO16): a multigenerational family report
- Epilepsy genetics in Africa: a systematic review
- Editorial: Insights in genetics of common and rare diseases 2024–2025
- Clinical characterization and in silico structural analysis of microtubule-related gene variants in eleven patients
- The prevalence of Duchenne/Becker muscular dystrophy in the Russian Federation
- Dynamic tissue-specific mosaicism in constitutional non-supernumerary ring chromosome 21 with a Down syndrome-like phenotype: a case report and genotype-phenotype analysis
- Exploratory mRNA and microRNA profiling identifies transcriptomic alterations in the PIK3CA-related overgrowth spectrum
- Partial trisomy 19p13.3-p13.2 from antenatal diagnosis to 7-year follow-up: case report and literature review
- Inherited metabolic diseases mimicking hereditary spastic paraplegia: a cohort of ten Egyptian patients
- Non-invasive adjunctive diagnostic models incorporating high-frequency ultrasound and shear wave elastography for pediatric Duchenne muscular dystrophy
- Case Report: A novel deep intronic MFSD8 splice-altering variant causes CLN7 disease through pseudoexon inclusion
- A P2RX2 exon-2 complex indel disrupts splicing and reduces P2X2 output: implications for DFNA41 and variable expressivity
- Case report: Harel–Yoon syndrome (ATAD3A p.Arg528Trp) with relative cognitive preservation despite severe motor impairment
- Single-cell transcriptome analysis of muscle and blood tissues from a patient with a rare homozygous ANO5 variant causing limb-girdle muscular dystrophy type R12
- Adult presentation of SLC29A3-related disorder spectrum with marked hypogammaglobulinemia due to a recurrent homozygous pathogenic variant (G437R): a case report
- Genotype distribution and identification of rare variants in α/β-thalassemia in chengdu: including the first report of HBA1:c.300+48C > G
- Case Report: Prenatal diagnosis and genetic counseling for a homozygous segment spanning chromosome 6q25.3q27 with normal phenotype
- Case Report: Prenatal diagnosis of congenital knee dislocation caused by BICD2 gene variant
- Cell-type-resolved colocalisation prioritises KCNIP2 as a candidate epilepsy drug-target detectable at inhibitory-neuron but not bulk-tissue resolution: a Mendelian randomisation and colocalisation study
- The COL4A3 c.3418+1G>T variant causes exon 39 skipping in minigene assays: functional and exploratory structural analyses
- Whole-exome sequencing reveals genetic etiology and pregnancy outcomes in fetuses with ultrasound-detected abnormalities at a tertiary center
- Cross-lineage anomaly detection of microRNA expression: a framework for deriving exploratory candidate biomarkers in sarcoma
- Distinct host genetic determinants of HIV acquisition and disease progression: the case of classical HLA class I
- Duplication of the SOX3 gene in an SRY-negative boy with a 46,XX karyotype: a case report and a review of the literature
- Molecular characterization and pathogenicity stratification of YWHAG missense variants in developmental and epileptic encephalopathy
- Prevalence of migalastat-amenable variants in patients with Fabry disease from Brazil, Argentina, and Colombia: an observational study
- Clinical and genetic features, surgical management, and longitudinal follow-up in two children with progressive osseous heteroplasia
- Burden of pathogenic variants in genes associated with medically actionable disease in the Slovenian population
- The mutational and clinical spectrum of EYS-associated retinitis pigmentosa in an Eastern European and Northern Asian cohort: two recurrent founder alleles
- A novel frameshift RPL15 gene variant associated with hydrops fetalis and perinatal death
- Case Report: Co-occurrence of Wilson disease and tuberous sclerosis complex in a Chinese patient
- A novel homozygous DLGAP5 splice-site variant in a woman with oocyte maturation arrest and recurrent IVF failure: a case report
- Cord blood-based neonatal genetic screening for thalassemia in Guiyang, China (2015): a cross-sectional study
- Artificial intelligence for precision gene therapy: emerging technologies, clinical applications, and future directions
- Emerging genetic mechanisms of glomerular proteinuria: a podocyte-centered multi-layer network perspective
- Considering microRNAs as measures of extrinsic domains of risk in the context of underlying genetic characteristics: type 2 diabetes as an exemplar
- Genotype-phenotypic correlation in a Chinese patient with isolated lissencephaly sequence caused by 17p13.3p13.2 chromosomal microdeletion: a 6-year follow-up study
- A rare de novo contiguous 15q11.1-q13.3 duplication with tetrasomy (CN=4) and adjacent trisomy (CN=3) associated with severe global developmental delay, autism spectrum disorder, and subclinical epileptiform discharges: a case report and literature review
- Case Report: Presymptomatic risdiplam in preterm monozygotic twins with co-occurring spinal muscular atrophy and tuberous sclerosis complex
- Influence of homozygosity on genomic structural variation analyses for predicting ACL rupture risk in the Labrador Retriever and Rottweiler
- Spectrum and carrier frequency of DMD in Yueyang, China: a population-based analysis using NGS and MLPA
- Glycogen storage disease type VII (Tarui disease): a case report presenting a PFKM variant previously described only in canine models
- Case Report: Differential outcomes associated with the same pathogenic variant: long-term follow-up of a CHARGE syndrome case with a nonsense mutation c.6292C>T in the CHD gene
- Novel compound heterozygous SIL1 variants associated with Marinesco-Sjögren syndrome in a Chinese family
- Metabolomic analysis of children with congenital heart disease complicated by neurological developmental abnormalities and CHD7 mutations
- Expanding the genetic landscape of SLC4A1-linked hereditary spherocytosis: discovery of a novel TM9 variant using high-resolution genomic profiling analysis
- Freely available genomic datasets for atrial fibrillation research: current resources and analytical pipeline
- Integrating rare and common variation in epilepsy genetics: from genetic architecture to penetrance and clinical expressivity
- Pedigree Case Report of adult-onset phenotypically heterogeneous Krabbe disease
- Case Report: novel mutations in SMARCA4 cause Coffin-Siris syndrome type 4 with autism spectrum disorder without visual impairment in one patient
- Identification of a novel and a recurrent CDC45 variant in a Chinese family with Meier-Gorlin syndrome 7 and a literature review
- Amyotrophic lateral sclerosis -plus patient with an intermediate-length CACNA1A allele: a Case Report
- Reclassification of the GRIA3 splice-site variant in an X-linked family with intellectual disability and psychiatric symptoms
- Genetic analysis of Behçet’s disease using whole-exome sequencing and bioinformatics analysis in Korean patients
- Rare missense variants in NECTIN1 alter local protein structure and may contribute to non-syndromic cleft lip with or without palate
- SEPTIN9 R106W in a Chinese family with hereditary neuralgic amyotrophy: phenotypic heterogeneity and rehabilitation in a pediatric case
- Clinical application of long-read sequencing in newborn genetic screening for congenital adrenal hyperplasia
- A novel TRPC6 variant (c.131C>T, p.(Pro44Leu)) associated with focal segmental glomerulosclerosis: a case report
- Case Report: Functional validation of a PKD1 c.7489 + 5G>A variant in an ADPKD family
- Identification and prenatal diagnosis of a novel likely pathogenic ANOS1 variant in a large Chinese Kallmann syndrome family
- Clinical and genetic features of syndromic craniosynostosis in 18 Chinese probands: novel candidate genes and phenotypes of known pathogenic genes
- Preimplantation genetic testing and prenatal diagnosis of TANGO2 deficiency disorder with biallelic pathogenic variants using single-nucleotide polymorphism-based haplotyping and gap-polymerase chain reaction
- NSF gene variants cause developmental and epileptic encephalopathy 96: expanding genotype and phenotypic spectrum with prenatal-onset features
- Integrated genetic identification and molecular dynamics simulations in a novel LOXL3 genetic mutation associated with Stickler syndrome
- Five-year outcomes of next-generation sequencing implementation at a Brazilian public health system reference centre for rare diseases
- Case Report: First case of paternal mosaicism in Snijders Blok–Fisher syndrome
- Identification of common diagnostic biomarkers and immune landscapes in sepsis and acute kidney injury: a transcriptomic study integrating machine learning and single-cell analysis
- Langer mesomelic dysplasia as a rare manifestation of SHOX deficiency: a narrative review
- X-linked recessive ichthyosis with X-linked retinoschisis in two brothers: a case report
- Biallelic variants in IBA57 with multiple mitochondrial dysfunction syndrome 3
- Novel variants of TP63 identified in Chinese families with split-hand/foot malformation
- Genotype-based severity scoring system in Wolfram Syndrome: correlation with onset of cardinal symptoms and WFS1 gene variant types
- Prenatal genotype-phenotype correlations in four fetuses with Rubinstein-Taybi syndrome due to EP300 mutations: a case series and literature review
- Understanding normal cardiac morphogenesis and its disruptions: a journey through pathways
- Assessment of paralogue annotation for improving diagnostic accuracy in CALM1, CALM2, and CALM3 genes
- Case Report: First report of spinal stenosis in Imagawa-Matsumoto syndrome: a novel SUZ12 variant in an 11-year-old Chinese child
- NIMA-related kinase family at the nexus of skeletal development and congenital arthrogryposis: coordinated regulation of cell cycle and ciliary dynamics
- 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
