Editorial
Published on 20 Jun 2024
Editorial: Inborn errors of carbohydrate metabolism
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1430414
- 3,318 views
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1,993 articles
articles
Original Research
Published on 20 Jun 2024
ZP1-Y262C mutation causes abnormal zona pellucida formation and female infertility in humans
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1407202
- 2,348 views
- 4 citations
Original Research
Published on 17 Jun 2024
Deciphering the pathogenic role of rare RAF1 heterozygous missense mutation in the late-presenting DDH
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1375736
- 2,828 views
Original Research
Published on 17 Jun 2024
A novel insertional allele of the CG18135 gene is associated with severe mutant phenotypes in Drosophila melanogaster
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1355368
- 1,849 views
- 1 citation
Original Research
Published on 12 Jun 2024
Clinical profiles and molecular genetic analyses of 98 Chinese children with short statures
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1364441
- 2,804 views
Original Research
Published on 11 Jun 2024
Revealing the genetic complexity of hypothyroidism: integrating complementary association methods
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1409226
- 5,914 views
- 7 citations
Original Research
Published on 10 Jun 2024
Identification of oxidative phosphorylation-related genes in moyamoya disease by combining bulk RNA-sequencing analysis and machine learning
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1417329
- 3,770 views
- 5 citations
Review
Published on 10 Jun 2024
Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1387598
- 7,049 views
- 11 citations
Original Research
Published on 05 Jun 2024
Rare exonic CELSR3 variants identified in Bladder Exstrophy Epispadias Complex
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1266210
- 2,001 views
Original Research
Published on 05 Jun 2024
A novel IRF6 gene mutation impacting the regulation of TGFβ2-AS1 in the TGFβ pathway: A mechanism in the development of Van der Woude syndrome
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1397410
- 3,308 views
- 1 citation
Original Research
Published on 04 Jun 2024
Routine antenatal molecular testing for α-thalassemia at a tertiary referral hospital in China: ten years of experience
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1416047
- 2,106 views
Case Report
Published on 31 May 2024
Case report: Late-onset MELAS syndrome with mtDNA 5783G>A mutation diagnosed by urinary sediment genetic testing
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1367716
- 2,626 views
- 2 citations
Original Research
Published on 30 May 2024
Exploring the impact of a KCNH2 missense variant on Long QT syndrome: insights into a novel gender-selective, incomplete penetrance inheritance mode
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1409459
- 3,387 views
Original Research
Published on 28 May 2024
Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1395988
- 4,008 views
- 3 citations
Original Research
Published on 27 May 2024
Molecular autopsy by proxy: relevance for genetic counseling in rare genetic disorders
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1400295
- 2,301 views
- 1 citation
Original Research
Published on 27 May 2024
Clinical characteristics and follow-up of complex arrhythmias associated with RYR2 gene mutations in children
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1405437
- 2,427 views
Original Research
Published on 23 May 2024
Mechanistic study of pre-eclampsia and macrophage-associated molecular networks: bioinformatics insights from multiple datasets
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1376971
- 4,861 views
- 2 citations
Original Research
Published on 22 May 2024
Three exonic variants in the PHEX gene cause aberrant splicing in a minigene assay
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1353674
- 3,773 views
- 2 citations
Original Research
Published on 21 May 2024
Phenotypic spectrum of the first Belgian MYBPC3 founder: a large multi-exon deletion with a varying phenotype
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1392527
- 3,660 views
- 4 citations
Original Research
Published on 20 May 2024
Keratin 19 (Krt19) is a novel marker gene for epicardial cells
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1385867
- 5,431 views
- 3 citations
Case Report
Published on 17 May 2024
Prenatal diagnosis of Silver–Russell syndrome with 8q12 deletion including the PLAG1 gene: a case report and review
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1387649
- 2,784 views
- 1 citation
Case Report
Published on 17 May 2024
Case report: Clinical, imaging, and genetic characteristics of type B niemann pick disease combined with segawa syndrome diagnosed via dual gene sequencing
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1391936
- 2,176 views
- 2 citations
Original Research
Published on 16 May 2024
The NM_033380.2 transcript of the COL4A5 gene contains a variable splice site c.4822–10T>C, which has been identified as a causative factor for Alport syndrome
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1330525
- 1,952 views
Original Research
Published on 16 May 2024
A novel homozygous RSPH4A variant in a family with primary ciliary dyskinesia and literature review
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1364476
- 3,003 views
- 2 citations