Genetic analysis of pregnancy loss and fetal structural anomalies by whole exome sequencing

Our findings expand the known mutation spectrum of genetic variants related to fetal abnormalities, increase our understanding of prenatal phenotypes, and enable more accurate counseling of recurrence risk for future pregnancies.

Authors

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Publication Details

Journal
Orphanet Journal of Rare Diseases
Published
2024-09-09
DOI
https://doi.org/10.1186/s13023-024-03340-5
Citations
16
Primary Topic
Prenatal Screening and Diagnostics
Type
article
Field-Weighted Citation Impact
17.75

Funders

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article

Genetic analysis of pregnancy loss and fetal structural anomalies by whole exome sequencing

Wei Zhang, Jingjing Xiang, Quanze He, Qin Zhang et al.
16 citations
Orphanet Journal of Rare Diseases
Prenatal Screening and Diagnostics
17.75
article

Genetic analysis of pregnancy loss and fetal structural anomalies by whole exome sequencing

Wei Zhang, Jingjing Xiang, Quanze He, Qin Zhang, Ting Wang, Yang Ding, Hui Tang, Jun Mao
article en
16 citations

Abstract

Our findings expand the known mutation spectrum of genetic variants related to fetal abnormalities, increase our understanding of prenatal phenotypes, and enable more accurate counseling of recurrence risk for future pregnancies.

Orphanet Journal of Rare DiseasesVol. 19(1)
Suzhou Municipal Hospital (CN)
Government of Jiangsu Province
Good health and well-being
Openalex Percentile: Top 1%
Prenatal Screening and Diagnostics
17.75
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