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Article

Incidental molecular diagnoses and heterozygous risk alleles in a carrier screening cohort.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2023

Reiner Jennifer, Rosenblum Lynne S, Xin Winnie, Zhou Zhaoqing, Zhu Hui, Leach Natalia

Abstract excerpt

PURPOSE: Expanded pan-ethnic carrier screening is an effective tool for the management of reproductive risk. However, growth in the number of conditions screened, in combination with increasingly more comprehensive test methodologies, can lead to the detection of genetic findings that may affect the health of the tested individual. The objective of this study was to investigate the frequency of pathogenic...

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PMID: 36459106
DOI: 10.1016/j.gim.2022.10.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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