joachimdejonghe.bsky.social
@joachimdejonghe.bsky.social
Pinned
So thrilled to see our pre-print online. This was an incredible team effort and I am so proud to have been part of this amazing study, special thanks goes to @nickywhiffin.bsky.social and @gregfindlay.bsky.social for their mentorship. Go check-out Nicky's thread hereunder:
Reposted
Ultra-low-field brain MRI morphometry: T-RT reliability and correspondence to high-field MRI | doi.org/10.1162/IMAG... | w/ !! FREE DATA !! T1w & T2w scans of 23 healthy participants from 3T GE Premier & 2x 64mT Hyperfine Swoop in many resolutions, i.e. 390 scans! openneuro.org/datasets/ds0... [1/n]
September 29, 2025 at 2:50 PM
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This was a great collaboration with @joachimdejonghe.bsky.social and @chloeterwagne.bsky.social
October 15, 2025 at 2:41 PM
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We're recruiting early career Group Leaders this autumn! I cannot think of a better place to build a lab. Come join us! 👇
We're now recruiting early career group leaders at the Crick to lead ambitious research programmes and explore bold scientific questions.

Hear our Director, Edith Heard, explain why the Crick is a unique place for curiosity-driven research.

Apply now ➡️ www.crick.ac.uk/careers-stud...
October 9, 2025 at 2:59 PM
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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....
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
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Thrilled to re-share our tweetorial on Bluesky: now out in @cp-cell.bsky.social (🔗 tinyurl.com/3a55tsky) - we present a framework to accelerate variant classification, diagnosis & treatment of inborn errors of immunity. A dream MD/PhD project, which has already led to the treatment of a patient.
July 2, 2025 at 4:42 PM
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Check out @ckajba.bsky.social and Michael Herger's concise description of their recent work. Thanks to Nature Reviews Genetics for featuring this.

rdcu.be/eraxZ
Determining variant effects with pooled prime editing
Nature Reviews Genetics - In this Tools of the Trade article, Christina Kajba and Michael Herger describe their screening platform, based on pooled prime editing, for large-scale functional...
rdcu.be
June 16, 2025 at 6:30 PM
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We're thrilled to introduce PromoterAI — a tool for accurately identifying promoter variants that impact gene expression. 🧵 (1/)
May 29, 2025 at 6:29 PM
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Many thanks to Ke Wu and Francisco Sánchez-Rivera (@fsrmit.bsky.social) for nicely summarising our recent work in Cell Genomics.

www.sciencedirect.com/science/arti...
It’s prime time for multiplexed prime editing
Prime editing screens allow precise and scalable studies of genetic variants in their native genomic context but are limited by variable editing effic…
www.sciencedirect.com
April 15, 2025 at 9:57 AM
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We're quite excited about this story as it showcases the power of SGE to dissect non-coding genes and to uncover new disease associations and diagnoses. This has, indeed, been an excellent collaboration...
April 11, 2025 at 4:14 PM
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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
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Close all tabs and read this. Start with the preceding Nature paper. Trust me. This is cooler than liquid helium.
April 11, 2025 at 1:46 PM
So thrilled to see our pre-print online. This was an incredible team effort and I am so proud to have been part of this amazing study, special thanks goes to @nickywhiffin.bsky.social and @gregfindlay.bsky.social for their mentorship. Go check-out Nicky's thread hereunder:
April 11, 2025 at 12:06 PM
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
Reposted
Not only is this seriously elegant science from @gregfindlay.bsky.social, @nickywhiffin.bsky.social and friends - using saturation editing to define variant impact in RNU4-2 - it also defines *another* new syndrome associated with this fascinating non-coding RNA gene.
April 11, 2025 at 11:13 AM