Original Research
Published on 20 Oct 2025
DLL1 haploinsufficiency in prenatal brain anomalies: a retrospective analysis of 6q terminal deletions
in Cytogenomics
Frontiers in Genetics
doi 10.3389/fgene.2025.1640775
- 1,919 views
16 articles related to "Copy Number Variation Sequencing Cnv Seq"
Articles
Original Research
Published on 09 Jan 2026
The value of quantitative fluorescence polymerase chain reaction for the products of conception in the era of copy number variation sequencing
in Cytogenomics
Frontiers in Genetics
doi 10.3389/fgene.2025.1750362
- 691 views
Case Report
Published on 13 Jan 2023
Chronic granulomatous disease associated with Duchenne muscular dystrophy caused by Xp21.1 contiguous gene deletion syndrome: Case report and literature review
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.970204
- 5,505 views
- 6 citations
Case Report
Published on 18 Jan 2022
Fetal Congenital Heart Disease Caused by Compound Heterozygous Mutations in the DNAH9 Gene: A Case Report
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2021.771756
- 4,820 views
- 1 citation
Case Report
Published on 12 Nov 2025
Case Report: Compound heterozygous CEP152 c.3346-5T>C variant and chr15 deletion causing recurrent MCPH–SCKS in a Chinese pregnant woman across two consecutive pregnancies
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1646297
- 1,518 views
Original Research
Published on 09 Apr 2021
Prenatal Genetic Diagnosis in Three Fetuses With Left Heart Hypoplasia (LHH) From Three Unrelated Families
in Cardiovascular Genetics and Systems Medicine
Frontiers in Cardiovascular Medicine
doi 10.3389/fcvm.2021.631374
- 5,484 views
- 7 citations
Case Report
Published on 24 Feb 2022
Case Report: Biventricular Noncompaction Cardiomyopathy With Pulmonary Stenosis and Bradycardia in a Fetus With KCNH2 Mutation
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.821226
- 4,021 views
- 5 citations
Original Research
Published on 14 Aug 2025
Detection of Ureaplasma parvum in amniotic fluids via reanalysis of prenatal copy number variation sequencing data: an exploratory study
in Clinical and Diagnostic Microbiology and Immunology
Frontiers in Cellular and Infection Microbiology
doi 10.3389/fcimb.2025.1579049
- 1,772 views
Original Research
Published on 04 Sep 2023
Analysis of chromosomal structural variations in patients with recurrent spontaneous abortion using optical genome mapping
in Genomic Assay Technology
Frontiers in Genetics
doi 10.3389/fgene.2023.1248755
- 6,730 views
- 12 citations
Original Research
Published on 19 Apr 2022
Genetic and Clinical Features of Heterotaxy in a Prenatal Cohort
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.818241
- 13,044 views
- 24 citations
Case Report
Published on 18 Feb 2022
Case Report: Genetic Analysis of a Small Supernumerary Marker Chromosome in a Unique Case of Mosaic Turner Syndrome
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.799284
- 4,906 views
- 1 citation
Original Research
Published on 20 Aug 2024
Identification of biallelic mutations in MCM3AP and comprehensive literature analysis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1405644
- 2,321 views
Case Report
Published on 15 Aug 2022
Case Report: Chinese female patients with a heterozygous pathogenic RPS6KA3 gene variant c.898C>T and distal 22q11.2 microdeletion
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.900226
- 3,465 views
- 4 citations
Case Report
Published on 22 Jan 2026
A rare case of mosaic partial tetrasomy 18p presenting with oligomenorrhea and intellectual disability: a case report
in Obstetrics and Gynecology
Frontiers in Medicine
doi 10.3389/fmed.2026.1757421
- 435 views
Case Report
Accepted on 27 Feb 2026
Prenatal Genetic Analysis of a Rare Fetus with 45, X/46, X, dic r (Y; Y)/46, X, r(Y) Karyotype
in Genetics of Common and Rare Diseases
Frontiers in Genetics
Original Research
Published on 03 Apr 2024
Associations between genomic aberrations, increased nuchal translucency, and pregnancy outcomes: a comprehensive analysis of 2,272 singleton pregnancies in women under 35
in Obstetrics and Gynecology
Frontiers in Medicine
doi 10.3389/fmed.2024.1376319
- 3,742 views
- 1 citation