Expanded carrier screening for 224 monogenic disease genes in 1,499 Chinese couples: a single-center study
This study not only provides valuable information about the recessive genetic landscape, but also establishes a solid foundation for couple-based ECS in a real clinical setting.
Authors
- Chunyu Luo
- Binbin Shao (ORCID: https://orcid.org/0009-0002-6230-4424)
- Ping Hu (ORCID: https://orcid.org/0000-0002-7297-8847)
- Jianxin Tan (ORCID: https://orcid.org/0000-0002-2603-8627)
- Zhengfeng Xu (ORCID: https://orcid.org/0000-0001-7069-3154)
- Jingjing Zhang
- Jiang Zhu (ORCID: https://orcid.org/0000-0002-2976-1175)
- Juan Tan
- Yan Wang (ORCID: https://orcid.org/0000-0002-1743-6383)
Institutions
- Nanjing Maternity and Child Health Care Hospital (CN)
- Nanjing Medical University (CN)
Publication Details
- Journal
- Clinical Chemistry and Laboratory Medicine (CCLM)
- Published
- 2024-11-19
- DOI
- https://doi.org/10.1515/cclm-2024-0649
- Citations
- 2
- Primary Topic
- Cystic Fibrosis Research Advances
- Type
- article
- Field-Weighted Citation Impact
- 0.84
Funders
- National Key Research and Development Program of China