Frontiers in genetics
- 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
- Spectrum of genetic variants in bilateral sensorineural hearing loss
- Novel FOXL2 variants in two Chinese families with blepharophimosis, ptosis, and epicanthus inversus syndrome
- MECP2-related disorders while gene-based therapies are on the horizon
- 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
- Selective screening for inborn errors of metabolism using tandem mass spectrometry in West Kazakhstan children: study protocol
- 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
- 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
- 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
- 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
