History of the methodology of disease gene identification
Author:
Affiliation:
1. University of Geneva Medical School Geneva Switzerland
2. Medigenome, Swiss Institute of Genomic Medicine Geneva Switzerland
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62400
Reference101 articles.
1. Non‐coding deletions identify Maenli lncRNA as a limb‐specific En1 regulator;Allou L.;Nature,2021
2. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
3. Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency
4. Recommendations for a nomenclature system for human gene mutations
5. Carrier screening for recessive disorders
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