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Ready or not, genomic screening of fetuses is already here.

作者信息

Gold Nina B, Nadel Allan, Green Robert C

机构信息

Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA; Harvard Medical School, Boston, MA.

Harvard Medical School, Boston, MA; Department of Obstetrics and Gynecology, Massachusetts General Hospital, Boston, MA.

出版信息

Genet Med. 2024 Jan;26(1):101008. doi: 10.1016/j.gim.2023.101008. Epub 2023 Oct 17.

Abstract
摘要

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本文引用的文献

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Features of Vascular Ehlers-Danlos Syndrome Among Biobank Participants Harboring Predicted High-Risk Genotypes.
Circ Genom Precis Med. 2023 Apr;16(2):e003864. doi: 10.1161/CIRCGEN.122.003864. Epub 2023 Mar 3.
3
Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts.
Front Genet. 2022 Jul 25;13:920390. doi: 10.3389/fgene.2022.920390. eCollection 2022.
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Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.
Am J Med Genet C Semin Med Genet. 2022 Jun;190(2):231-242. doi: 10.1002/ajmg.c.31989. Epub 2022 Jul 24.
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Population-Based Penetrance of Deleterious Clinical Variants.
JAMA. 2022 Jan 25;327(4):350-359. doi: 10.1001/jama.2021.23686.
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High rate of abnormal findings in Prenatal Exome Trio in low risk pregnancies and apparently normal fetuses.
Prenat Diagn. 2022 May;42(6):725-735. doi: 10.1002/pd.6077. Epub 2021 Dec 17.
10
Your DNA is not your diagnosis: getting diagnoses right following secondary genomic findings.
Genet Med. 2016 Aug;18(8):765-7. doi: 10.1038/gim.2015.134. Epub 2015 Oct 8.

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