Beyond the panel: preconception screening in consanguineous couples using the TruSight One “clinical exome”-Reference-Cited by-同舟云学术

Beyond the panel: preconception screening in consanguineous couples using the TruSight One “clinical exome”

Published:2019-03 Issue:3 Volume:21 Page:608-612
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Kirk Edwin P.,Barlow-Stewart Kristine,Selvanathan Arthavan,Josephi-Taylor Sarah,Worgan Lisa,Rajagopalan Sulekha,Cowley Mark J.,Gayevskiy Velimir,Bittles Alan,Burnett Leslie,Elakis George,Lo William,Buckley Michael,Colley Alison,Roscioli Tony

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/s41436-018-0082-9.pdf

Reference22 articles.

1. How thalassaemia was controlled in Cyprus;Angastiniotis;World Health Forum,1986

Cited by 20 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies;European Journal of Human Genetics;2022-12-23

2. Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples;Journal of Medical Genetics;2022-12-08

3. Carrier detection probabilities for autosomal recessive variants in unrelated and consanguineous couples — an evaluation of the 86 genes of the ACMG ‘Tier 3’ panel;Journal of Community Genetics;2022-06-04

4. Variability of retinopathy consequent upon novel mutations in LAMA1;Ophthalmic Genetics;2022-05-26

5. Carrier Screening for Single-Gene Disorders – A Brief Review;Journal of Biomedical and Clinical Research;2021-12-01