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Frontiers in genetics
- 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
- 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
