The functional genomics laboratory: functional validation of genetic variants
Author:
Funder
Radboud University Medical Center
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/article/10.1007/s10545-018-0146-7/fulltext.html
Reference78 articles.
1. Ait-El-Mkadem S, Dayem-Quere M, Gusic M et al (2017) Mutations in MDH2, encoding a Krebs cycle enzyme, cause early-onset severe encephalopathy. Am J Hum Genet 100:151–159
2. Alodaib A, Sobreira N, Gold WA et al (2016) Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease. Eur J Hum Genet 25:79–84
3. Alston CL, Compton AG, Formosa LE et al (2016) Biallelic mutations in TMEM126B cause severe complex I deficiency with a variable clinical phenotype. Am J Hum Genet 99:217–227
4. Amendola LM, Jarvik GP, Leo MC et al (2016) Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the Clinical Sequencing Exploratory Research Consortium. Am J Hum Genet 98:1067–1076
5. Arroyo JD, Jourdain AA, Calvo SE et al (2016) A genome-wide CRISPR death screen identifies genes essential for oxidative phosphorylation. Cell Metab 24:875–885
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