@joachimdejonghe.bsky.social
Reposted
This was a great collaboration with @joachimdejonghe.bsky.social and @chloeterwagne.bsky.social
October 15, 2025 at 2:41 PM
This was a great collaboration with @joachimdejonghe.bsky.social and @chloeterwagne.bsky.social
Reposted
Following this, @joachimdejonghe.bsky.social and @gregfindlay.bsky.social led a beautiful saturation genome editing study to help clarify the impact of mutations across the full length of #RNU4-2. Here’s the study on @medrxivpreprint.bsky.social:
www.medrxiv.org/content/10.1....
www.medrxiv.org/content/10.1....
Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders
Recently, de novo variants in an 18 nucleotide region in the centre of RNU4-2 were shown to cause ReNU syndrome, a syndromic neurodevelopmental disorder (NDD) that is predicted to affect tens of thous...
www.medrxiv.org
August 18, 2025 at 11:23 AM
Following this, @joachimdejonghe.bsky.social and @gregfindlay.bsky.social led a beautiful saturation genome editing study to help clarify the impact of mutations across the full length of #RNU4-2. Here’s the study on @medrxivpreprint.bsky.social:
www.medrxiv.org/content/10.1....
www.medrxiv.org/content/10.1....
Reposted
Hats off to @joachimdejonghe.bsky.social for overcoming some major hurdles to pull this off. And many, many thanks to @nickywhiffin.bsky.social and co for taking SGE data to new heights. It's been amazing to see how fast things can move once we know precisely which variants matter.
April 11, 2025 at 4:14 PM
Hats off to @joachimdejonghe.bsky.social for overcoming some major hurdles to pull this off. And many, many thanks to @nickywhiffin.bsky.social and co for taking SGE data to new heights. It's been amazing to see how fast things can move once we know precisely which variants matter.
Reposted
In what is becoming a pretty well-oiled routine, Nicky reached out to see if we had Australian hits, and minutes later @cassimons.bsky.social had found a bunch of them. Now over 20 families diagnosed globally, many with unusual white matter changes - a distinct new recessive syndrome.
April 11, 2025 at 11:29 AM
In what is becoming a pretty well-oiled routine, Nicky reached out to see if we had Australian hits, and minutes later @cassimons.bsky.social had found a bunch of them. Now over 20 families diagnosed globally, many with unusual white matter changes - a distinct new recessive syndrome.