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
- 3,662 views
- 6 citations
18 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
- 2,535 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
- 5,439 views
- 9 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
- 3,904 views
- 2 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
- 4,559 views
- 14 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
- 5,711 views
- 14 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
- 4,279 views
- 9 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
- 8,446 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
- 12,252 views
- 39 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
- 3,629 views
- 2 citations
Original Research
Published on 21 Jan 2026
From policy to practice: premarital spinal muscular atrophy screening as a public health initiative in northern TĂĽrkiye
in Public Health Policy
Frontiers in Public Health
doi 10.3389/fpubh.2025.1714795
- 622 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
- 5,615 views
- 24 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
- 4,479 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
- 1,508 views
Original Research
Published on 30 Jan 2026
Prediction of β-thalassemia carrier using federated learning and explainable AI
in Precision Medicine
Frontiers in Medicine
doi 10.3389/fmed.2026.1687773
- 896 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
- 3,562 views
- 1 citation