Mount Sinai Genetics
@sinaigenetics.bsky.social
We are shaping the future of genomic research, medicine, and education in the largest, most diverse healthcare system in New York City. 🧬
https://www.flowcode.com/page/sinaigenetics
https://www.flowcode.com/page/sinaigenetics
“This cements the biological significance of a class of small non-coding genes in NDDs,” said first author Daniel Greene. Link to paper: www.nature.com/articles/s41... #neurogenetics #precisionmedicine #noncodingRNA #epilepsy #genetics #NDD
Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy - Nature Genetics
Recurrent de novo mutations at nucleotide positions 4 and 35 of RNU2-2 cause a neurodevelopmental disorder whose prominent features include intellectual disability, developmental delay and a complex s...
www.nature.com
April 10, 2025 at 2:18 PM
“This cements the biological significance of a class of small non-coding genes in NDDs,” said first author Daniel Greene. Link to paper: www.nature.com/articles/s41... #neurogenetics #precisionmedicine #noncodingRNA #epilepsy #genetics #NDD