@alexblakes.bsky.social
Pinned
Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Genetic variants in RNU4-2, which encodes U4, a key non-coding small nuclear RNA (snRNA) component of the major spliceosome, were recently shown to cause a prevalent neurodevelopmental disorder (NDD) ...
www.medrxiv.org
I am absolutely delighted to share our work describing a new *recessive* condition caused by variants in #RNU4-2. Yes, that #RNU4-2!
tinyurl.com/3j9r56s8
@rociorius.bsky.social @yuyangchen.bsky.social @gregfindlay.bsky.social @dgmacarthur.bsky.social @cassimons.bsky.social @nickywhiffin.bsky.social
tinyurl.com/3j9r56s8
@rociorius.bsky.social @yuyangchen.bsky.social @gregfindlay.bsky.social @dgmacarthur.bsky.social @cassimons.bsky.social @nickywhiffin.bsky.social
Reposted
I absolutely love this figure in a second paper led by Adam Jackson, @alexblakes.bsky.social, and Sid Banka (www.medrxiv.org/content/10.1...) of RNU gene diagnoses in @genomicsengland.bsky.social 100k genomes project.
(1) showing just how many new diagnoses are found across these genes ❤️
2/3
(1) showing just how many new diagnoses are found across these genes ❤️
2/3
September 8, 2025 at 8:43 AM
I absolutely love this figure in a second paper led by Adam Jackson, @alexblakes.bsky.social, and Sid Banka (www.medrxiv.org/content/10.1...) of RNU gene diagnoses in @genomicsengland.bsky.social 100k genomes project.
(1) showing just how many new diagnoses are found across these genes ❤️
2/3
(1) showing just how many new diagnoses are found across these genes ❤️
2/3
Congratulations to you and the whole team on this really beautiful work. This is a really important discovery for patients and families affected by rare conditions.
We analyzed 200 potentially functional spliceosomal snRNA genes in 26,911 individuals with rare disorders.
This revealed de novo (dominant) or biallelic (recessive) RNU2-2 variants in 126 individuals from 108 families.
This revealed de novo (dominant) or biallelic (recessive) RNU2-2 variants in 126 individuals from 108 families.
September 8, 2025 at 11:23 AM
Congratulations to you and the whole team on this really beautiful work. This is a really important discovery for patients and families affected by rare conditions.
Reposted
This is ... just brilliant. Another ncRNA gene involved in rare developmental diseases, and these are a meaningful number of new cases - also interesting the dominance/linear/recessive differences
While I was taking a holiday last week, 2 super exciting preprints dropped, adding to another posted 6 days prior.
These papers describe a remarkable role for *recessive* variants in *RNU2-2* causing developmental and epileptic encephalopathy
🧵 by the amazing @christeldepienne.bsky.social 👇
1/3
These papers describe a remarkable role for *recessive* variants in *RNU2-2* causing developmental and epileptic encephalopathy
🧵 by the amazing @christeldepienne.bsky.social 👇
1/3
After our study on RNU4-2 and RNU5B-1 published in May (Nava et al, Nature Genetics 2025), I am excited to share our new preprint reporting dominant and recessive variants in RNU2-2 as a frequent cause of developmental and epileptic encephalopathy (DEE).
📄 www.medrxiv.org/content/10.1...
📄 www.medrxiv.org/content/10.1...
September 8, 2025 at 11:02 AM
This is ... just brilliant. Another ncRNA gene involved in rare developmental diseases, and these are a meaningful number of new cases - also interesting the dominance/linear/recessive differences
Reposted
After our study on RNU4-2 and RNU5B-1 published in May (Nava et al, Nature Genetics 2025), I am excited to share our new preprint reporting dominant and recessive variants in RNU2-2 as a frequent cause of developmental and epileptic encephalopathy (DEE).
📄 www.medrxiv.org/content/10.1...
📄 www.medrxiv.org/content/10.1...
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
Variants in spliceosomal small nuclear RNA (snRNA) genes RNU4-2 (ReNU syndrome), RNU5B-1 , and RNU2-2 have recently been linked to dominant neurodevelopmental disorders (NDDs), revealing a major, prev...
www.medrxiv.org
September 5, 2025 at 3:32 PM
After our study on RNU4-2 and RNU5B-1 published in May (Nava et al, Nature Genetics 2025), I am excited to share our new preprint reporting dominant and recessive variants in RNU2-2 as a frequent cause of developmental and epileptic encephalopathy (DEE).
📄 www.medrxiv.org/content/10.1...
📄 www.medrxiv.org/content/10.1...
Reposted
(2) but even cooler is the flip of frequency between dominant and recessive forms in RNU4-2 and RNU2-2, driven by different signatures of mutation and selection - variants across RNU2-2 tend to be more common, driving a higher comp het frequency.
We have a lot to learn from these genes yet!!! 🧬🤓
We have a lot to learn from these genes yet!!! 🧬🤓
September 8, 2025 at 8:43 AM
(2) but even cooler is the flip of frequency between dominant and recessive forms in RNU4-2 and RNU2-2, driven by different signatures of mutation and selection - variants across RNU2-2 tend to be more common, driving a higher comp het frequency.
We have a lot to learn from these genes yet!!! 🧬🤓
We have a lot to learn from these genes yet!!! 🧬🤓
Reposted
While I was taking a holiday last week, 2 super exciting preprints dropped, adding to another posted 6 days prior.
These papers describe a remarkable role for *recessive* variants in *RNU2-2* causing developmental and epileptic encephalopathy
🧵 by the amazing @christeldepienne.bsky.social 👇
1/3
These papers describe a remarkable role for *recessive* variants in *RNU2-2* causing developmental and epileptic encephalopathy
🧵 by the amazing @christeldepienne.bsky.social 👇
1/3
After our study on RNU4-2 and RNU5B-1 published in May (Nava et al, Nature Genetics 2025), I am excited to share our new preprint reporting dominant and recessive variants in RNU2-2 as a frequent cause of developmental and epileptic encephalopathy (DEE).
📄 www.medrxiv.org/content/10.1...
📄 www.medrxiv.org/content/10.1...
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
Variants in spliceosomal small nuclear RNA (snRNA) genes RNU4-2 (ReNU syndrome), RNU5B-1 , and RNU2-2 have recently been linked to dominant neurodevelopmental disorders (NDDs), revealing a major, prev...
www.medrxiv.org
September 8, 2025 at 8:43 AM
While I was taking a holiday last week, 2 super exciting preprints dropped, adding to another posted 6 days prior.
These papers describe a remarkable role for *recessive* variants in *RNU2-2* causing developmental and epileptic encephalopathy
🧵 by the amazing @christeldepienne.bsky.social 👇
1/3
These papers describe a remarkable role for *recessive* variants in *RNU2-2* causing developmental and epileptic encephalopathy
🧵 by the amazing @christeldepienne.bsky.social 👇
1/3
Congratulations @alextremophile.bsky.social, tremendous to see this online! :)
I am super proud to present our new manuscript “Using SpliceAI to triage splice-altering variants in 7,220 individuals with rare conditions highlights limitations of the precomputed scores”
www.medrxiv.org/content/10.1...
www.medrxiv.org/content/10.1...
Using SpliceAI to triage splice-altering variants in 7,220 individuals with rare conditions highlights limitations of the precomputed scores
Background: SpliceAI is a deep learning algorithm that predicts whether genetic variants are likely to affect splicing. Precomputed spliceAI predictions for all theoretical SNVs and small indels were ...
www.medrxiv.org
August 31, 2025 at 8:23 PM
Congratulations @alextremophile.bsky.social, tremendous to see this online! :)
Reposted
I am super proud to present our new manuscript “Using SpliceAI to triage splice-altering variants in 7,220 individuals with rare conditions highlights limitations of the precomputed scores”
www.medrxiv.org/content/10.1...
www.medrxiv.org/content/10.1...
Using SpliceAI to triage splice-altering variants in 7,220 individuals with rare conditions highlights limitations of the precomputed scores
Background: SpliceAI is a deep learning algorithm that predicts whether genetic variants are likely to affect splicing. Precomputed spliceAI predictions for all theoretical SNVs and small indels were ...
www.medrxiv.org
August 29, 2025 at 8:57 AM
I am super proud to present our new manuscript “Using SpliceAI to triage splice-altering variants in 7,220 individuals with rare conditions highlights limitations of the precomputed scores”
www.medrxiv.org/content/10.1...
www.medrxiv.org/content/10.1...
Reposted
Love when you can build a paper out of a personal bugbear! tl;dr the precomputed SpliceAI scores are great, but proceed with caution!
I am super proud to present our new manuscript “Using SpliceAI to triage splice-altering variants in 7,220 individuals with rare conditions highlights limitations of the precomputed scores”
www.medrxiv.org/content/10.1...
www.medrxiv.org/content/10.1...
Using SpliceAI to triage splice-altering variants in 7,220 individuals with rare conditions highlights limitations of the precomputed scores
Background: SpliceAI is a deep learning algorithm that predicts whether genetic variants are likely to affect splicing. Precomputed spliceAI predictions for all theoretical SNVs and small indels were ...
www.medrxiv.org
August 29, 2025 at 10:06 AM
Love when you can build a paper out of a personal bugbear! tl;dr the precomputed SpliceAI scores are great, but proceed with caution!
Reposted
Very exciting to have access to "Our Future Health" data and begin understanding what is available and how to access it
Many thanks to the volunteers so far. Still a long way to go - consider signing up if you haven't already!
This is a greater primer on the aims www.nature.com/articles/s41...
Many thanks to the volunteers so far. Still a long way to go - consider signing up if you haven't already!
This is a greater primer on the aims www.nature.com/articles/s41...
Our Future Health: a unique global resource for discovery and translational research - Nature Medicine
Our Future Health has recruited more than 1 million participants in the UK, with biobanked bloods, making it the largest consented cohort of its type in the world.
www.nature.com
August 29, 2025 at 12:59 PM
Very exciting to have access to "Our Future Health" data and begin understanding what is available and how to access it
Many thanks to the volunteers so far. Still a long way to go - consider signing up if you haven't already!
This is a greater primer on the aims www.nature.com/articles/s41...
Many thanks to the volunteers so far. Still a long way to go - consider signing up if you haven't already!
This is a greater primer on the aims www.nature.com/articles/s41...
Reposted
3/3 I am thrilled to be part of a study establishing the clinical phenotypes of NDD associated with recessive variants in RNU4-2. Thank you to @rociorius.bsky.social, @alexblakes.bsky.social, @cassimons.bsky.social and @nickywhiffin.bsky.social for leading this work! More details: lnkd.in/eTJ5Rapt
New recessive neurodevelopmental disorder caused by RNU4-2 variants | Nicola Whiffin posted on the topic | LinkedIn
I am excited to share our preprint describing a new **recessive** neurodevelopmental disorder caused by variants in the non-coding snRNA RNU4-2 🎉
https://lnkd.in/dHNDCsDe
Led by two super ⭐ s Roci...
lnkd.in
August 26, 2025 at 3:59 AM
3/3 I am thrilled to be part of a study establishing the clinical phenotypes of NDD associated with recessive variants in RNU4-2. Thank you to @rociorius.bsky.social, @alexblakes.bsky.social, @cassimons.bsky.social and @nickywhiffin.bsky.social for leading this work! More details: lnkd.in/eTJ5Rapt
Reposted
1st Bluesky post with recent updates:
1/3 It was incredible to attend and speak at the ReNU Hope Conference in Long Island, NY. This was the first time I met the families and the ReNU warriors, sharing many touching stories. I hope to continue advocacy in China where few are currently diagnosed.
1/3 It was incredible to attend and speak at the ReNU Hope Conference in Long Island, NY. This was the first time I met the families and the ReNU warriors, sharing many touching stories. I hope to continue advocacy in China where few are currently diagnosed.
August 26, 2025 at 3:59 AM
1st Bluesky post with recent updates:
1/3 It was incredible to attend and speak at the ReNU Hope Conference in Long Island, NY. This was the first time I met the families and the ReNU warriors, sharing many touching stories. I hope to continue advocacy in China where few are currently diagnosed.
1/3 It was incredible to attend and speak at the ReNU Hope Conference in Long Island, NY. This was the first time I met the families and the ReNU warriors, sharing many touching stories. I hope to continue advocacy in China where few are currently diagnosed.
Reposted
Nuevo diagnóstico ligado a #RNU4-2 🧬: variantes bialélicas causan un #TND recesivo con cambios característicos en sustancia blanca en RM 👉 hay que considerar este gen no codificante en la búsqueda/diagnóstico.
tinyurl.com/3j9r56s8
La historia completa la cuenta @alexblakes.bsky.social aqui 🧵👇
tinyurl.com/3j9r56s8
La historia completa la cuenta @alexblakes.bsky.social aqui 🧵👇
I am absolutely delighted to share our work describing a new *recessive* condition caused by variants in #RNU4-2. Yes, that #RNU4-2!
tinyurl.com/3j9r56s8
@rociorius.bsky.social @yuyangchen.bsky.social @gregfindlay.bsky.social @dgmacarthur.bsky.social @cassimons.bsky.social @nickywhiffin.bsky.social
tinyurl.com/3j9r56s8
@rociorius.bsky.social @yuyangchen.bsky.social @gregfindlay.bsky.social @dgmacarthur.bsky.social @cassimons.bsky.social @nickywhiffin.bsky.social
Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Genetic variants in RNU4-2, which encodes U4, a key non-coding small nuclear RNA (snRNA) component of the major spliceosome, were recently shown to cause a prevalent neurodevelopmental disorder (NDD) ...
www.medrxiv.org
August 19, 2025 at 8:09 AM
Nuevo diagnóstico ligado a #RNU4-2 🧬: variantes bialélicas causan un #TND recesivo con cambios característicos en sustancia blanca en RM 👉 hay que considerar este gen no codificante en la búsqueda/diagnóstico.
tinyurl.com/3j9r56s8
La historia completa la cuenta @alexblakes.bsky.social aqui 🧵👇
tinyurl.com/3j9r56s8
La historia completa la cuenta @alexblakes.bsky.social aqui 🧵👇
Reposted
New preprint! The outcome of a wonderful collaboration with @nickywhiffin.bsky.social’s team to define a new recessive syndrome associated with inherited variants in RNU4-2, the non-protein-coding gene that keeps on giving.
I am absolutely delighted to share our work describing a new *recessive* condition caused by variants in #RNU4-2. Yes, that #RNU4-2!
tinyurl.com/3j9r56s8
@rociorius.bsky.social @yuyangchen.bsky.social @gregfindlay.bsky.social @dgmacarthur.bsky.social @cassimons.bsky.social @nickywhiffin.bsky.social
tinyurl.com/3j9r56s8
@rociorius.bsky.social @yuyangchen.bsky.social @gregfindlay.bsky.social @dgmacarthur.bsky.social @cassimons.bsky.social @nickywhiffin.bsky.social
Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Genetic variants in RNU4-2, which encodes U4, a key non-coding small nuclear RNA (snRNA) component of the major spliceosome, were recently shown to cause a prevalent neurodevelopmental disorder (NDD) ...
www.medrxiv.org
August 18, 2025 at 9:34 PM
New preprint! The outcome of a wonderful collaboration with @nickywhiffin.bsky.social’s team to define a new recessive syndrome associated with inherited variants in RNU4-2, the non-protein-coding gene that keeps on giving.
Reposted
This whole thread describes how 18 months of work on this tiny piece of genome identified 2/3 new syndromes. it’s a very compelling clinical genetics story!
I am absolutely delighted to share our work describing a new *recessive* condition caused by variants in #RNU4-2. Yes, that #RNU4-2!
tinyurl.com/3j9r56s8
@rociorius.bsky.social @yuyangchen.bsky.social @gregfindlay.bsky.social @dgmacarthur.bsky.social @cassimons.bsky.social @nickywhiffin.bsky.social
tinyurl.com/3j9r56s8
@rociorius.bsky.social @yuyangchen.bsky.social @gregfindlay.bsky.social @dgmacarthur.bsky.social @cassimons.bsky.social @nickywhiffin.bsky.social
Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Genetic variants in RNU4-2, which encodes U4, a key non-coding small nuclear RNA (snRNA) component of the major spliceosome, were recently shown to cause a prevalent neurodevelopmental disorder (NDD) ...
www.medrxiv.org
August 18, 2025 at 3:42 PM
This whole thread describes how 18 months of work on this tiny piece of genome identified 2/3 new syndromes. it’s a very compelling clinical genetics story!
Reposted
Our latest research is out today on @medrxivpreprint.bsky.social:
www.medrxiv.org/content/10.1...
Saturation genome editing of BRCA1 across cell types accurately resolves cancer risk.
Led by the amazing Phoebe Dace. This one’s packed full of data, so check out the paper. Quick highlights… 🧵 1/n
www.medrxiv.org/content/10.1...
Saturation genome editing of BRCA1 across cell types accurately resolves cancer risk.
Led by the amazing Phoebe Dace. This one’s packed full of data, so check out the paper. Quick highlights… 🧵 1/n
Saturation genome editing of BRCA1 across cell types accurately resolves cancer risk
Germline pathogenic BRCA1 variants predispose women to breast and ovarian cancer. Despite accumulation of functional evidence for variants in BRCA1 , over half of reported single-nucleotide variants (...
www.medrxiv.org
August 18, 2025 at 7:33 AM
Our latest research is out today on @medrxivpreprint.bsky.social:
www.medrxiv.org/content/10.1...
Saturation genome editing of BRCA1 across cell types accurately resolves cancer risk.
Led by the amazing Phoebe Dace. This one’s packed full of data, so check out the paper. Quick highlights… 🧵 1/n
www.medrxiv.org/content/10.1...
Saturation genome editing of BRCA1 across cell types accurately resolves cancer risk.
Led by the amazing Phoebe Dace. This one’s packed full of data, so check out the paper. Quick highlights… 🧵 1/n
Reposted
Isn't genetics cool???
Within only 145 nucleotides(!) of a non-coding RNA (RNU4-2) - different variants in distinct regions / structures cause three distinct disorders!!! (all discovered within the last 18 months)
🤯🤓🧬❤️
Within only 145 nucleotides(!) of a non-coding RNA (RNU4-2) - different variants in distinct regions / structures cause three distinct disorders!!! (all discovered within the last 18 months)
🤯🤓🧬❤️
August 18, 2025 at 2:03 PM
Isn't genetics cool???
Within only 145 nucleotides(!) of a non-coding RNA (RNU4-2) - different variants in distinct regions / structures cause three distinct disorders!!! (all discovered within the last 18 months)
🤯🤓🧬❤️
Within only 145 nucleotides(!) of a non-coding RNA (RNU4-2) - different variants in distinct regions / structures cause three distinct disorders!!! (all discovered within the last 18 months)
🤯🤓🧬❤️
Reposted
Look at the insane speed of discovery around this snippet of DNA. Sometimes the machine of science is amazing. 🤩
Isn't genetics cool???
Within only 145 nucleotides(!) of a non-coding RNA (RNU4-2) - different variants in distinct regions / structures cause three distinct disorders!!! (all discovered within the last 18 months)
🤯🤓🧬❤️
Within only 145 nucleotides(!) of a non-coding RNA (RNU4-2) - different variants in distinct regions / structures cause three distinct disorders!!! (all discovered within the last 18 months)
🤯🤓🧬❤️
August 18, 2025 at 3:01 PM
Look at the insane speed of discovery around this snippet of DNA. Sometimes the machine of science is amazing. 🤩
Reposted
An awesome piece of work by @alexblakes.bsky.social, @rociorius.bsky.social, @nickywhiffin.bsky.social and team!
I am super excited to see more emerging from this tiny, but mighty gene, and am overjoyed at the implications this has for the rare disorders community ❤️
I am super excited to see more emerging from this tiny, but mighty gene, and am overjoyed at the implications this has for the rare disorders community ❤️
I am absolutely delighted to share our work describing a new *recessive* condition caused by variants in #RNU4-2. Yes, that #RNU4-2!
tinyurl.com/3j9r56s8
@rociorius.bsky.social @yuyangchen.bsky.social @gregfindlay.bsky.social @dgmacarthur.bsky.social @cassimons.bsky.social @nickywhiffin.bsky.social
tinyurl.com/3j9r56s8
@rociorius.bsky.social @yuyangchen.bsky.social @gregfindlay.bsky.social @dgmacarthur.bsky.social @cassimons.bsky.social @nickywhiffin.bsky.social
Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Genetic variants in RNU4-2, which encodes U4, a key non-coding small nuclear RNA (snRNA) component of the major spliceosome, were recently shown to cause a prevalent neurodevelopmental disorder (NDD) ...
www.medrxiv.org
August 18, 2025 at 11:28 AM
An awesome piece of work by @alexblakes.bsky.social, @rociorius.bsky.social, @nickywhiffin.bsky.social and team!
I am super excited to see more emerging from this tiny, but mighty gene, and am overjoyed at the implications this has for the rare disorders community ❤️
I am super excited to see more emerging from this tiny, but mighty gene, and am overjoyed at the implications this has for the rare disorders community ❤️
Reposted
We recently performed SGE of RNU4-2 and identified functionally impactful variants underlying a new recessive disease. Today, the team led by @rociorius.bsky.social @alexblakes.bsky.social @cassimons.bsky.social & @nickywhiffin.bsky.social provide in-depth analysis of its clinical presentation. 🧵⬇️
I am absolutely delighted to share our work describing a new *recessive* condition caused by variants in #RNU4-2. Yes, that #RNU4-2!
tinyurl.com/3j9r56s8
@rociorius.bsky.social @yuyangchen.bsky.social @gregfindlay.bsky.social @dgmacarthur.bsky.social @cassimons.bsky.social @nickywhiffin.bsky.social
tinyurl.com/3j9r56s8
@rociorius.bsky.social @yuyangchen.bsky.social @gregfindlay.bsky.social @dgmacarthur.bsky.social @cassimons.bsky.social @nickywhiffin.bsky.social
Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Genetic variants in RNU4-2, which encodes U4, a key non-coding small nuclear RNA (snRNA) component of the major spliceosome, were recently shown to cause a prevalent neurodevelopmental disorder (NDD) ...
www.medrxiv.org
August 18, 2025 at 12:20 PM
We recently performed SGE of RNU4-2 and identified functionally impactful variants underlying a new recessive disease. Today, the team led by @rociorius.bsky.social @alexblakes.bsky.social @cassimons.bsky.social & @nickywhiffin.bsky.social provide in-depth analysis of its clinical presentation. 🧵⬇️
Reposted
🚨 New preprint led by amazing duo @rociorius.bsky.social and @alexblakes.bsky.social in collaboration with @cassimons.bsky.social, @dgmacarthur.bsky.social and many other amazing folks! ❤️
We describe the clinical phenotype of a recessive NDD associated with biallelic variants in RNU4-2 🧬
See 🧵👇
We describe the clinical phenotype of a recessive NDD associated with biallelic variants in RNU4-2 🧬
See 🧵👇
I am absolutely delighted to share our work describing a new *recessive* condition caused by variants in #RNU4-2. Yes, that #RNU4-2!
tinyurl.com/3j9r56s8
@rociorius.bsky.social @yuyangchen.bsky.social @gregfindlay.bsky.social @dgmacarthur.bsky.social @cassimons.bsky.social @nickywhiffin.bsky.social
tinyurl.com/3j9r56s8
@rociorius.bsky.social @yuyangchen.bsky.social @gregfindlay.bsky.social @dgmacarthur.bsky.social @cassimons.bsky.social @nickywhiffin.bsky.social
Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Genetic variants in RNU4-2, which encodes U4, a key non-coding small nuclear RNA (snRNA) component of the major spliceosome, were recently shown to cause a prevalent neurodevelopmental disorder (NDD) ...
www.medrxiv.org
August 18, 2025 at 11:46 AM
🚨 New preprint led by amazing duo @rociorius.bsky.social and @alexblakes.bsky.social in collaboration with @cassimons.bsky.social, @dgmacarthur.bsky.social and many other amazing folks! ❤️
We describe the clinical phenotype of a recessive NDD associated with biallelic variants in RNU4-2 🧬
See 🧵👇
We describe the clinical phenotype of a recessive NDD associated with biallelic variants in RNU4-2 🧬
See 🧵👇
I am absolutely delighted to share our work describing a new *recessive* condition caused by variants in #RNU4-2. Yes, that #RNU4-2!
tinyurl.com/3j9r56s8
@rociorius.bsky.social @yuyangchen.bsky.social @gregfindlay.bsky.social @dgmacarthur.bsky.social @cassimons.bsky.social @nickywhiffin.bsky.social
tinyurl.com/3j9r56s8
@rociorius.bsky.social @yuyangchen.bsky.social @gregfindlay.bsky.social @dgmacarthur.bsky.social @cassimons.bsky.social @nickywhiffin.bsky.social
Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Genetic variants in RNU4-2, which encodes U4, a key non-coding small nuclear RNA (snRNA) component of the major spliceosome, were recently shown to cause a prevalent neurodevelopmental disorder (NDD) ...
www.medrxiv.org
August 18, 2025 at 11:23 AM
I am absolutely delighted to share our work describing a new *recessive* condition caused by variants in #RNU4-2. Yes, that #RNU4-2!
tinyurl.com/3j9r56s8
@rociorius.bsky.social @yuyangchen.bsky.social @gregfindlay.bsky.social @dgmacarthur.bsky.social @cassimons.bsky.social @nickywhiffin.bsky.social
tinyurl.com/3j9r56s8
@rociorius.bsky.social @yuyangchen.bsky.social @gregfindlay.bsky.social @dgmacarthur.bsky.social @cassimons.bsky.social @nickywhiffin.bsky.social