Reproductive male partner testing when the female is identified to be a genetic disease carrier-Reference-Cited by-同舟云学术

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Reproductive male partner testing when the female is identified to be a genetic disease carrier

Published:2020-09-24 Issue:1 Volume:41 Page:21-27
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenatal Diagnosis

Author:

Simone Laurie¹^ORCID,Khan Shama²,Ciarlariello Molly²,Lin Julia²,Trackman Sarah²,Heiman Gary A.³,Ashkinadze Elena²

Affiliation:

1. Hackensack University Medical Center Hackensack New Jersey USA

2. Rutgers‐Robert Wood Johnson Medical School New Brunswick New Jersey USA

3. Department of Genetics and the Human Genetics Institute of New Jersey, Rutgers, the State University of New Jersey Piscataway New Jersey USA

Publisher

Wiley

Subject

Genetics (clinical),Obstetrics and Gynecology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/pd.5824

Reference20 articles.

1. Carrier screening for recessive disorders

2. Committee Opinion No. 691: Carrier Screening for Genetic Conditions

3. ACMG position statement on prenatal/preconception expanded carrier screening

4. Committee Opinion No. 690 Summary: Carrier Screening in the Age of Genomic Medicine

5. An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals

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1. Cell-free DNA analysis for the determination of fetal red blood cell antigen genotype in alloimmunized pregnancies;2024-03-26

2. Uptake rate of carrier screening among consanguineous couples;Prenatal Diagnosis;2024-03-18

3. The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases;Human Genomics;2024-01-31

4. Performance of single‐gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting;Prenatal Diagnosis;2023-09

5. Barriers to completion of expanded carrier screening in an inner city population;Genetics in Medicine;2023-07

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