@NatureComms Amazing work by @cwlaflamme @hcmefford @StJude @StJudeResearch. “The half who don’t get a diagnosis miss out on targeted therapies and connecting with others in similar situations,” said co-author Dr. Heather Mefford. https://t.co/JNQG0YjDu5
Check out the most recent UDN publication! Key takeaway: Genome-wide DNA methylation analysis identified candidate variants in 2% of unsolved DEE cases, including rare DMRs, episignatures, and pathogenic #CHD2 variants. https://t.co/zr0dQlzCAW
Congratulations to @cwlaflamme on your first 1st-authored paper! We're thrilled to have you working on CHD2!! https://t.co/ekxsRbjraD https://t.co/iSDvSy5t2s