Original Research
Published on 11 Jan 2024
Hereditary deafness carrier screening in 9,993 Chinese individuals
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1327258
- 2,224 views
- 5 citations
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1,885 articles
Original Research
Published on 11 Jan 2024
Identification of gene mutations associated with type 1 diabetes by next-generation sequencing in affected Palestinian families
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1292073
- 7,011 views
- 2 citations
Case Report
Published on 11 Jan 2024
Case Report: From epilepsy and uterus didelphys to Turner syndrome-associated dysgerminoma
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1286515
- 2,324 views
- 1 citation
Review
Published on 10 Jan 2024
The burden of cystic fibrosis in North Africa
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1295008
- 4,705 views
- 1 citation
Editorial
Published on 08 Jan 2024
Editorial: Genetics of inflammatory and immune diseases
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1355794
- 1,338 views
Original Research
Published on 08 Jan 2024
Characterization of cardiac involvement in patients with LMNA splice-site mutation–related dilated cardiomyopathy and sudden cardiac death
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1291411
- 3,433 views
- 1 citation
Brief Research Report
Published on 05 Jan 2024
Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1300952
- 4,650 views
- 4 citations
Brief Research Report
Published on 04 Jan 2024
Exploiting in silico structural analysis to introduce emerging genotype–phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1307934
- 2,576 views
- 8 citations
General Commentary
Published on 22 Dec 2023
Commentary: Case report: Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) presenting with liver cirrhosis and steroid-responsive interstitial pneumonia
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1255807
- 2,180 views
Case Report
Published on 20 Dec 2023
Importance of comprehensive genetic testing for patients with suspected vascular Ehlers–Danlos syndrome: a family case report and literature review
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1246712
- 3,604 views
- 1 citation
Original Research
Published on 20 Dec 2023
Identification of two novel and one rare mutation in DYRK1A and prenatal diagnoses in three Chinese families with intellectual Disability-7
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1290949
- 2,966 views
- 3 citations
Case Report
Published on 18 Dec 2023
Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1282790
- 3,372 views
- 3 citations
Original Research
Published on 18 Dec 2023
Whole exome sequencing reveals genetic landscape associated with left ventricular outflow tract obstruction in Chinese Han population
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1267368
- 2,925 views
Mini Review
Published on 14 Dec 2023
Incorporating CNV analysis improves the yield of exome sequencing for rare monogenic disorders—an important consideration for resource-constrained settings
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1277784
- 4,554 views
- 6 citations
Original Research
Published on 14 Dec 2023
Whole-exome sequencing reveals novel variants of monogenic diabetes in Tunisia: impact on diagnosis and healthcare management
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1224284
- 3,294 views
- 1 citation
Brief Research Report
Published on 13 Dec 2023
Novel enhancer mediates the RPL36A-HNRNPH2 readthrough loci and GLA gene expressions associated with fabry disease
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1229088
- 2,984 views
- 1 citation