Tom Dinneen
@tomdinneen.bsky.social
Genomic researcher studying neurodevelopmental conditions @ SickKids, Toronto | All opinions are my own | 🇮🇪🇨🇦
Reposted by Tom Dinneen
This was a fantastic collaboration with lots of people including @hilarycmartin.bsky.social @jakobgrove.bsky.social, Experts by Experience, and several others who I can't seem to find on this app.
Article: www.nature.com/articles/s41...
Article: www.nature.com/articles/s41...
Polygenic and developmental profiles of autism differ by age at diagnosis - Nature
A study of several longitudinal birth cohorts and cross-sectional cohorts finds only moderate overlap in genetic variants between autism that is diagnosed earlier and that diagnosed later, so they may represent aetiologically different conditions.
www.nature.com
October 1, 2025 at 4:05 PM
This was a fantastic collaboration with lots of people including @hilarycmartin.bsky.social @jakobgrove.bsky.social, Experts by Experience, and several others who I can't seem to find on this app.
Article: www.nature.com/articles/s41...
Article: www.nature.com/articles/s41...
Reposted by Tom Dinneen
If someone you know buys into claims about "genetic optimization" of embryos using polygenic scores of cognition, just send them our 2024 paper on Beethoven & musicality. We wrote it to help communicate limits of individual-level genetic predictions & complexity of links between DNA & behaviour. 🧪👇
Notes from Beethoven’s genome
Wesseldijk et al. compare the genomic information collected from Ludwig van Beethoven
with population-based datasets used to quantify musical achievement.
www.cell.com
August 7, 2025 at 11:10 AM
If someone you know buys into claims about "genetic optimization" of embryos using polygenic scores of cognition, just send them our 2024 paper on Beethoven & musicality. We wrote it to help communicate limits of individual-level genetic predictions & complexity of links between DNA & behaviour. 🧪👇
Reposted by Tom Dinneen
Almost exactly a year since our first preprint on RNU4-2
In that, we showed that de novo variants in an 18 nucleotide region (the critical region, or CR) cause a remarkably prevalent neurodevelopmental disorder (NDD), now called ReNU syndrome.
Published here: www.nature.com/articles/s41...
2/12
In that, we showed that de novo variants in an 18 nucleotide region (the critical region, or CR) cause a remarkably prevalent neurodevelopmental disorder (NDD), now called ReNU syndrome.
Published here: www.nature.com/articles/s41...
2/12
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome - Nature
The non-coding RNA RNU4-2, which is highly expressed in the developing human brain, is identified as a syndromic neurodevelopmental disorder gene, and, using RNA sequencing, 5′ splice-site use is...
www.nature.com
April 11, 2025 at 10:00 AM
Almost exactly a year since our first preprint on RNU4-2
In that, we showed that de novo variants in an 18 nucleotide region (the critical region, or CR) cause a remarkably prevalent neurodevelopmental disorder (NDD), now called ReNU syndrome.
Published here: www.nature.com/articles/s41...
2/12
In that, we showed that de novo variants in an 18 nucleotide region (the critical region, or CR) cause a remarkably prevalent neurodevelopmental disorder (NDD), now called ReNU syndrome.
Published here: www.nature.com/articles/s41...
2/12