Pathogenic variant‐based preconception carrier screening in the <scp>Israeli Jewish</scp> population-Reference-Cited by-同舟云学术

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Pathogenic variant‐based preconception carrier screening in the Israeli Jewish population

Published:2022-03-29 Issue:5-6 Volume:101 Page:517-529
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Davidov Bella¹,Levon Amit²,Volkov Hadas²,Orenstein Naama³,Karo Racheli¹,Fatal Gazit Inbal¹,Magal Nurit¹,Basel‐Salmon Lina¹⁴⁵,Golan Mashiach Michal²

Affiliation:

1. Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus Petah Tikva Israel

2. Applied Genomics LTD Ness Ziona Israel

3. Genetics Department Schneiders Children's Medical Center Petah Tikva Israel

4. Faculty of Medicine Tel Aviv University Ramat Aviv Israel

5. Felsenstein Medical Research Center, Rabin Medical Center Petah Tikva Israel

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14131

Reference27 articles.

1. Expanded Carrier Screening in Reproductive Medicine—Points to Consider

2. The Israeli national population program of genetic carrier screening for reproductive purposes

3. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

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1. Expanded targeted preconception screening panel in Israel: findings and insights;Journal of Medical Genetics;2024-05-06

2. Are We Ready for Whole Population Genomic Sequencing of Asymptomatic Newborns?;Pharmacogenomics and Personalized Medicine;2023-07

3. Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels;Human Genomics;2023-03-28

4. Ethnic Differences in Clinical Presentations and Esophageal High-Resolution Manometry Findings in Patients with Achalasia;Dysphagia;2023-01-04

5. Clinically actionable incidental and secondary parental genomic findings after proband exome sequencing: Yield and dilemmas;Genetics in Medicine Open;2023

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