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
- 4,074 views
- 7 citations
20 articles related to "Carrier Screening"
Articles
Original Research
Published on 23 Jun 2025
Prenatal carrier screening for spinal muscular atrophy among pregnant Thai women
in Obstetrics and Gynecology
Frontiers in Medicine
doi 10.3389/fmed.2025.1566417
- 2,758 views
Original Research
Accepted on 04 May 2026
Identification of novel JAK3 variants in a suspected SCID patient and two couples undergoing carrier screening
in Statistical Genetics and Methodology
Frontiers in Genetics
- 200 views
Original Research
Published on 16 Nov 2020
Expanded Carrier Screening in Chinese Population – A Survey on Views and Acceptance of Pregnant and Non-Pregnant Women
in Genomic Medicine
Frontiers in Genetics
doi 10.3389/fgene.2020.594091
- 5,759 views
- 11 citations
Original Research
Published on 14 Apr 2022
Interest in Cancer Predisposition Testing and Carrier Screening Offered as Part of Routine Healthcare Among an Ethnically Diverse Sample of Young Women
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2022.866062
- 4,857 views
- 15 citations
Original Research
Published on 24 Jun 2024
Application of whole exome sequencing in carrier screening for high-risk families without probands
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1415811
- 4,230 views
- 2 citations
Original Research
Published on 09 Apr 2024
Analysis of spinal muscular atrophy carrier screening results in 32,416 pregnant women and 7,231 prepregnant women
in Neuromuscular Disorders and Peripheral Neuropathies
Frontiers in Neurology
doi 10.3389/fneur.2024.1357476
- 4,587 views
- 9 citations
Original Research
Published on 22 Aug 2022
Clinical Utility of Medical Exome Sequencing: Expanded Carrier Screening for Patients Seeking Assisted Reproductive Technology in China
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2022.943058
- 6,060 views
- 16 citations
Hypothesis and Theory
Published on 24 Feb 2017
Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments
in Public Health Policy
Frontiers in Public Health
doi 10.3389/fpubh.2017.00025
- 8,643 views
- 31 citations
Mini Review
Published on 27 Jul 2021
The Evolving Role of Next-Generation Sequencing in Screening and Diagnosis of Hemoglobinopathies
in Red Blood Cell Physiology
Frontiers in Physiology
doi 10.3389/fphys.2021.686689
- 12,649 views
- 43 citations
Original Research
Published on 12 May 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2025.1527228
- 4,082 views
- 3 citations
Original Research
Published on 21 Jan 2026
From policy to practice: premarital spinal muscular atrophy screening as a public health initiative in northern Türkiye
in Public Health Policy
Frontiers in Public Health
doi 10.3389/fpubh.2025.1714795
- 1,001 views
Brief Research Report
Published on 09 May 2022
Long-Read Sequencing Revealed Extragenic and Intragenic Duplications of Exons 56–61 in DMD in an Asymptomatic Male and a DMD Patient
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.878806
- 5,966 views
- 25 citations
Case Report
Published on 21 Mar 2023
Case report: Homozygous variants of NEB and KLHL40 in two Arab patients with nemaline myopathy
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1098102
- 4,729 views
- 2 citations
Case Report
Published on 14 Jul 2025
Case Report: A novel compound heterozygosity of the EVC2 gene identified in a Chinese pedigree with congenital heart defect
in Pediatric Cardiology
Frontiers in Pediatrics
doi 10.3389/fped.2025.1352571
- 1,707 views
Case Report
Published on 11 Dec 2023
Case report: Prenatal diagnosis in the fetus of a couple with both thalassemia and deafness genes
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1258293
- 3,847 views
- 1 citation