Frontiers in genetics
- 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
- Evaluation of genetic variants related to lipid levels among the North Indian population
- Risk and protection of different rare protein-coding variants of complement component C4A in age-related macular degeneration
- A novel CTBP1 variant in a Chinese pediatric patient with a phenotype distinct from hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
- Deciphering the molecular classification of pediatric sepsis: integrating WGCNA and machine learning-based classification with immune signatures for the development of an advanced diagnostic model
- Erratum: Maternal GNAS contributes to the extra-large G protein α-subunit (XLαs) expression in a cell type-specific manner
- Erratum: Case report: atypical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum
- Inherited bone marrow failure syndromes: phenotype as a tool for early diagnostic suspicion at a major reference center in Mexico
- The value of genome-wide analysis in craniosynostosis
- Real-world outcomes from a series of patients with late onset Pompe disease who switched from alglucosidase alfa to avalglucosidase alfa
- Case report: The evolving phenotype of ESCO2 spectrum disorder in a 15-year-old Malaysian child
- Loss-of-function variant in the LRR domain of SLITRK2 implicated in a neurodevelopmental disorder
- Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing
- Selective screening for inborn errors of metabolism using tandem mass spectrometry in West Kazakhstan children: study protocol
- Novel cis compound heterozygous variants in MYO6 causes early onset of non-syndromic hearing loss in a Chinese family
- Case Report: From epilepsy and uterus didelphys to Turner syndrome-associated dysgerminoma
- Genetics and clinical phenotypes in common variable immunodeficiency
- Identification of gene mutations associated with type 1 diabetes by next-generation sequencing in affected Palestinian families
- Hereditary deafness carrier screening in 9,993 Chinese individuals
- The burden of cystic fibrosis in North Africa
- Characterization of cardiac involvement in patients with LMNA splice-site mutation–related dilated cardiomyopathy and sudden cardiac death
- Editorial: Genetics of inflammatory and immune diseases
- Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications
- Exploiting in silico structural analysis to introduce emerging genotype–phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study
- Commentary: Case report: Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) presenting with liver cirrhosis and steroid-responsive interstitial pneumonia
- Identification of two novel and one rare mutation in DYRK1A and prenatal diagnoses in three Chinese families with intellectual Disability-7
- Importance of comprehensive genetic testing for patients with suspected vascular Ehlers–Danlos syndrome: a family case report and literature review
- Whole exome sequencing reveals genetic landscape associated with left ventricular outflow tract obstruction in Chinese Han population
- Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls
- Whole-exome sequencing reveals novel variants of monogenic diabetes in Tunisia: impact on diagnosis and healthcare management
- Incorporating CNV analysis improves the yield of exome sequencing for rare monogenic disorders—an important consideration for resource-constrained settings
- The landscape of actionable genomic alterations in lung adenocarcinomas in India
- Transcriptome studies of congenital heart diseases: identifying current gaps and therapeutic frontiers
- Novel enhancer mediates the RPL36A-HNRNPH2 readthrough loci and GLA gene expressions associated with fabry disease
- Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center
- Editorial: Otitis media susceptibility due to genetic variants
- Case report: Prenatal diagnosis in the fetus of a couple with both thalassemia and deafness genes
- Clinical feature and genetic analysis of HMBS gene in Chinese patients with acute intermittent porphyria: a systematic review
- Editorial: Characterizing the neurobehavioral phenotype of mendelian disorders of epigenetic machinery
- Carrier frequency and incidence of alpha-mannosidosis: population database-based study—focus on the East Asian and Korean population
- Case report: Revealing the rare—a Brody Disease patient from Turkey expanding the phenotype
- Prominent muscle involvement in a familial form of mitochondrial disease due to a COA8 variant
- Molecular characterization of novel and rare DNA variants in patients with galactosemia
- A comprehensive preimplantation genetic testing approach for SEA-type α-thalassemia by fluorescent gap-polymerase chain reaction combined with haplotype analysis
