Update on the use of exome sequencing in the diagnosis of fetal abnormalities-Reference-Cited by-同舟云学术

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Update on the use of exome sequencing in the diagnosis of fetal abnormalities

Published:2019-08 Issue:8 Volume:62 Page:103663
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Ferretti Lauren,Mellis Rhiannon,Chitty Lyn S.

Funder

NIHR Biomedical Research Centre at Great Ormond Street Hospital

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference48 articles.

1. Prenatal DNA sequencing: clinical, counseling, and diagnostic laboratory considerations;Abou Tayoun;Prenat. Diagn.,2018

2. Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis;Akolekar;Ultrasound Obstet. Gynecol.,2015

3. Actionable exomic incidental findings in 6503 participants: challenges of variant classification;Amendola;Genome Res.,2015

4. Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women;Badeau;Cochrane Database Syst. Rev.,2017

5. Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants;Belkadi;Proc. Natl. Acad. Sci. Unit. States Am.,2015

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1. A Practical, Systematic Approach to Genetic Diagnosis in a Fetus or Neonate with Congenital Anomalies;NeoReviews;2024-09-01

2. “It's both a terrifying and a powerful position to be in”: A qualitative study exploring clinician experiences and perspectives on providing publicly funded fetal exome sequencing.;2024-08-26

3. Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders;Prenatal Diagnosis;2024-08-13

4. Women's attitudes towards disclosure of genetic information in pregnancy with varying levels of penetrance;Prenatal Diagnosis;2024-01-14

5. Congenital anomalies of the kidney and urinary tract: antenatal diagnosis, management and counselling of families;Pediatric Nephrology;2023-09-01

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