Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy.

Francisco Del Caño-OchoaBobby G NgMalak AbedalthagafiMohammed AlmannaiRonald D CohnGregory CostainOrly ElpelegHenry HouldenEhsan Ghayoor KarimianiPengfei LiuM Chiara ManziniReza MaroofianMichael MurielloAli Al-OtaibiHema PatelEdvardson ShimonV Reid SuttonMehran Beiraghi ToosiLynne A WolfeJill A RosenfeldHudson H FreezeSantiago Ramón-Maiques

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

We designed a cell-based assay to test the pathogenicity of CAD variants, identifying 11 CAD-deficient individuals who could benefit from uridine therapy.

Keyphrases

coronary artery disease
cell therapy
single cell
copy number
high throughput
genome wide
escherichia coli
dna methylation
bone marrow
staphylococcus aureus
cystic fibrosis
pseudomonas aeruginosa