Review
Published on 26 Mar 2024
The complex landscape of DMD mutations: moving towards personalized medicine
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1360224
- 12,775 views
- 20 citations
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1,993 articles
articles
Original Research
Published on 20 Mar 2024
The genetic landscape of autism spectrum disorder in the Middle Eastern population
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1363849
- 11,878 views
- 10 citations
Original Research
Published on 18 Mar 2024
Genomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1278198
- 4,126 views
- 1 citation
Original Research
Published on 06 Mar 2024
Elucidating the role of TWIST1 in ulcerative colitis: a comprehensive bioinformatics and machine learning approach
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1296570
- 4,242 views
- 1 citation
Review
Published on 04 Mar 2024
Genetic interrogation for sequence and copy number variants in systemic lupus erythematosus
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1341272
- 4,805 views
- 5 citations
Original Research
Published on 29 Feb 2024
Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1352947
- 6,680 views
- 14 citations
Brief Research Report
Published on 26 Feb 2024
Functional polymorphisms of NOS3 and GUCY1A3 affect both nitric oxide formation and association with hypertensive disorders of pregnancy
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1293082
- 3,325 views
- 3 citations
Correction
Published on 15 Feb 2024
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
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1368953
- 1,770 views
Mini Review
Published on 15 Feb 2024
Brain function in classic galactosemia, a galactosemia network (GalNet) members review
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1355962
- 11,525 views
- 10 citations
Original Research
Published on 12 Feb 2024
Novel FOXL2 variants in two Chinese families with blepharophimosis, ptosis, and epicanthus inversus syndrome
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1343411
- 2,169 views
- 2 citations
Review
Published on 12 Feb 2024
MECP2-related disorders while gene-based therapies are on the horizon
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1332469
- 9,487 views
- 11 citations
Original Research
Published on 12 Feb 2024
Spectrum of genetic variants in bilateral sensorineural hearing loss
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1314535
- 6,051 views
- 8 citations
Case Report
Published on 09 Feb 2024
Case report: Preimplantation genetic testing for infantile GM1 gangliosidosis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1344051
- 3,323 views
Original Research
Published on 06 Feb 2024
Prevalence of inherited metabolic disorders among newborns in Zhuzhou, a southern city in China
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1197151
- 3,131 views
- 5 citations
Case Report
Published on 31 Jan 2024
Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1291063
- 3,493 views
- 2 citations
Original Research
Published on 29 Jan 2024
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
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1294381
- 3,660 views
- 3 citations
Original Research
Published on 29 Jan 2024
Evaluation of genetic variants related to lipid levels among the North Indian population
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1234693
- 2,829 views
Original Research
Published on 29 Jan 2024
A novel CTBP1 variant in a Chinese pediatric patient with a phenotype distinct from hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1344682
- 2,904 views
- 3 citations
Original Research
Published on 29 Jan 2024
Risk and protection of different rare protein-coding variants of complement component C4A in age-related macular degeneration
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1274743
- 3,372 views
- 2 citations
Original Research
Published on 24 Jan 2024
Inherited bone marrow failure syndromes: phenotype as a tool for early diagnostic suspicion at a major reference center in Mexico
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1293929
- 6,563 views
- 1 citation
Original Research
Published on 22 Jan 2024
The value of genome-wide analysis in craniosynostosis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1322462
- 7,763 views
- 8 citations
Original Research
Published on 19 Jan 2024
Real-world outcomes from a series of patients with late onset Pompe disease who switched from alglucosidase alfa to avalglucosidase alfa
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1309146
- 8,435 views
- 10 citations
Case Report
Published on 15 Jan 2024
Case report: The evolving phenotype of ESCO2 spectrum disorder in a 15-year-old Malaysian child
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1286489
- 2,470 views
- 1 citation
Study Protocol
Published on 12 Jan 2024
Selective screening for inborn errors of metabolism using tandem mass spectrometry in West Kazakhstan children: study protocol
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1278750
- 5,096 views
- 3 citations