Correction
Published on 15 Aug 2023
Corrigendum: A heterozygous mutation in NOTCH3 in a Chinese family with CADASIL
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1273023
- 1,330 views
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1,498 articles
Case Report
Published on 10 Aug 2023
Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformation
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1231434
- 3,192 views
Original Research
Published on 09 Aug 2023
Colocalization of corneal resistance factor GWAS loci with GTEx e/sQTLs highlights plausible candidate causal genes for keratoconus postnatal corneal stroma weakening
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1171217
- 4,225 views
- 1 citation
Original Research
Published on 08 Aug 2023
Long-term safety and dose escalation of intracerebroventricular CLN5 gene therapy in sheep supports clinical translation for CLN5 Batten disease
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1212228
- 2,992 views
- 4 citations
Brief Research Report
Published on 07 Aug 2023
Whole genome sequencing in ROHHAD trios proved inconclusive: what’s beyond?
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1031074
- 2,674 views
- 6 citations
Case Report
Published on 27 Jul 2023
Case report: Birk–Landau–Perez syndrome linked to the SLC30A9 gene—identification of additional cases and expansion of the phenotypic spectrum
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1219514
- 2,476 views
- 2 citations
Brief Research Report
Published on 25 Jul 2023
Optical genome mapping in an atypical Pelizaeus-Merzbacher prenatal challenge
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1173426
- 1,834 views
- 4 citations
Original Research
Published on 24 Jul 2023
Transcriptome sequencing reveals novel molecular features of SLE severity
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1121359
- 5,123 views
- 6 citations
Case Report
Published on 20 Jul 2023
Case report: Asp194Ala variant in MFN2 is associated with ALS-FTD in an Italian family
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1235887
- 2,886 views
- 3 citations
Original Research
Published on 20 Jul 2023
A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1209138
- 2,998 views
- 4 citations
Case Report
Published on 18 Jul 2023
Case Report: Non-ossifying fibromas with pathologic fractures in a patient with NONO-associated X-linked syndromic intellectual developmental disorder
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1167054
- 2,729 views
- 5 citations
Editorial
Published on 17 Jul 2023
Editorial: Rare dyslipidemias
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1248435
- 3,269 views
- 6 citations
Case Report
Published on 17 Jul 2023
Case report: atypical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1198821
- 2,856 views
- 1 citation
Editorial
Published on 17 Jul 2023
Editorial: Unravelling the basis of non-invasive prenatal screening results
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1247764
- 1,508 views
Original Research
Published on 13 Jul 2023
Clinical and mutational spectrum of paediatric Charcot-Marie-Tooth disease in a large cohort of Chinese patients
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1188361
- 3,220 views
- 4 citations
Editorial
Published on 12 Jul 2023
Editorial: Building capacity for sickle cell disease research and healthcare
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1226589
- 2,129 views