Christel Depienne
@christeldepienne.bsky.social
Molecular geneticist | Neurogenetics | repeat expansions | chromosome X | snRNAs | and more
I am delighted to finally share our new preprint exploring the role of RBMX and its retrocopies in neurodevelopment:
👉🏻Read the full preprint here:
www.medrxiv.org/content/10.1...
Below are the key findings 👇🏻
👉🏻Read the full preprint here:
www.medrxiv.org/content/10.1...
Below are the key findings 👇🏻
RBMX functional retrocopy safeguards brain development
Retrotransposition has generated thousands of intronless gene copies in mammalian genomes, yet their contribution to brain development and evolution remains largely unexplored. Here we uncover a criti...
www.medrxiv.org
October 26, 2025 at 3:53 AM
I am delighted to finally share our new preprint exploring the role of RBMX and its retrocopies in neurodevelopment:
👉🏻Read the full preprint here:
www.medrxiv.org/content/10.1...
Below are the key findings 👇🏻
👉🏻Read the full preprint here:
www.medrxiv.org/content/10.1...
Below are the key findings 👇🏻
Reposted by Christel Depienne
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
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 by Christel Depienne
Today, the Scientific Programme Committee wrapped a fantastic and exciting programme for #eshg2026 conference! More information will available on our conference website soon. We look forward to welcoming you in Gothenburg!
June 27, 2025 at 11:00 AM
Today, the Scientific Programme Committee wrapped a fantastic and exciting programme for #eshg2026 conference! More information will available on our conference website soon. We look forward to welcoming you in Gothenburg!
Reposted by Christel Depienne
May 25, 2025 at 8:32 AM
Reposted by Christel Depienne
Next up: Amandine Santini
International study led by
@christeldepienne.bsky.social
145 ReNU syndrome individuals- T-loop variants associated with higher phenotypic severity and more 5'splice site disruption (19 cases).
35 cases/45 controls - identify a shared episignature.
#eshg2025 1/2
International study led by
@christeldepienne.bsky.social
145 ReNU syndrome individuals- T-loop variants associated with higher phenotypic severity and more 5'splice site disruption (19 cases).
35 cases/45 controls - identify a shared episignature.
#eshg2025 1/2
www.nature.com
May 25, 2025 at 9:29 AM
Next up: Amandine Santini
International study led by
@christeldepienne.bsky.social
145 ReNU syndrome individuals- T-loop variants associated with higher phenotypic severity and more 5'splice site disruption (19 cases).
35 cases/45 controls - identify a shared episignature.
#eshg2025 1/2
International study led by
@christeldepienne.bsky.social
145 ReNU syndrome individuals- T-loop variants associated with higher phenotypic severity and more 5'splice site disruption (19 cases).
35 cases/45 controls - identify a shared episignature.
#eshg2025 1/2
Reposted by Christel Depienne
Driven by the absolutely incredible families - it is truly amazing and humbling to watch!!
Meet some of them here: www.renusyndrome.org/renu-hope-vi...
❤️🥹
@anneotation.bsky.social @dgmacarthur.bsky.social @christeldepienne.bsky.social #renuCrew
Meet some of them here: www.renusyndrome.org/renu-hope-vi...
❤️🥹
@anneotation.bsky.social @dgmacarthur.bsky.social @christeldepienne.bsky.social #renuCrew
www.renusyndrome.org
April 30, 2025 at 9:53 AM
Driven by the absolutely incredible families - it is truly amazing and humbling to watch!!
Meet some of them here: www.renusyndrome.org/renu-hope-vi...
❤️🥹
@anneotation.bsky.social @dgmacarthur.bsky.social @christeldepienne.bsky.social #renuCrew
Meet some of them here: www.renusyndrome.org/renu-hope-vi...
❤️🥹
@anneotation.bsky.social @dgmacarthur.bsky.social @christeldepienne.bsky.social #renuCrew
Reposted by Christel Depienne
🚨I could not be more excited to share our new preprint on saturation genome editing of the small nuclear RNA (snRNA) RNU4-2:
www.medrxiv.org/content/10.1...
A super fun collaboration with incredible duo @gregfindlay.bsky.social @joachimdejonghe.bsky.social from @crick.ac.uk
🧬🖥️🩺
🧵1/12
www.medrxiv.org/content/10.1...
A super fun collaboration with incredible duo @gregfindlay.bsky.social @joachimdejonghe.bsky.social from @crick.ac.uk
🧬🖥️🩺
🧵1/12
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
April 11, 2025 at 10:00 AM
🚨I could not be more excited to share our new preprint on saturation genome editing of the small nuclear RNA (snRNA) RNU4-2:
www.medrxiv.org/content/10.1...
A super fun collaboration with incredible duo @gregfindlay.bsky.social @joachimdejonghe.bsky.social from @crick.ac.uk
🧬🖥️🩺
🧵1/12
www.medrxiv.org/content/10.1...
A super fun collaboration with incredible duo @gregfindlay.bsky.social @joachimdejonghe.bsky.social from @crick.ac.uk
🧬🖥️🩺
🧵1/12
Happy to share our latest research article published open access in movement disorders movementdisorders.onlinelibrary.wiley.com/doi/epdf/10....
Repeat Expansions with Small TTTCA Insertions in MARCHF6 Cause Familial Myoclonus without Epilepsy
movementdisorders.onlinelibrary.wiley.com
April 9, 2025 at 7:18 PM
Happy to share our latest research article published open access in movement disorders movementdisorders.onlinelibrary.wiley.com/doi/epdf/10....
Reposted by Christel Depienne
One more week until the abstract submission deadline for #eshg2025 #hybridconference! Do not forget to submit your abstract until Thursday, January 30, 2025, 23.59 h CET. All information can be found on our website:
2025.eshg.org/abstracts/
#genetics #genomes
2025.eshg.org/abstracts/
#genetics #genomes
January 23, 2025 at 4:51 PM
One more week until the abstract submission deadline for #eshg2025 #hybridconference! Do not forget to submit your abstract until Thursday, January 30, 2025, 23.59 h CET. All information can be found on our website:
2025.eshg.org/abstracts/
#genetics #genomes
2025.eshg.org/abstracts/
#genetics #genomes
Reposted by Christel Depienne
I've updated the starter pack for rare genetic epilepsies 🧠🧬
It is a work in progress and I will continue to update the pack over the coming weeks 🤩
go.bsky.app/NXw4e8C
It is a work in progress and I will continue to update the pack over the coming weeks 🤩
go.bsky.app/NXw4e8C
November 21, 2024 at 9:10 PM
I've updated the starter pack for rare genetic epilepsies 🧠🧬
It is a work in progress and I will continue to update the pack over the coming weeks 🤩
go.bsky.app/NXw4e8C
It is a work in progress and I will continue to update the pack over the coming weeks 🤩
go.bsky.app/NXw4e8C
Reposted by Christel Depienne
For all the Human Genetics folks: ReNU Syndrome has an OMIM page #RNU4-2 @nickywhiffin.bsky.social @christeldepienne.bsky.social
www.omim.org/entry/620851
www.omim.org/entry/620851
Online Mendelian Inheritance in Man (OMIM)
Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative
compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text,...
www.omim.org
December 25, 2024 at 9:42 AM
For all the Human Genetics folks: ReNU Syndrome has an OMIM page #RNU4-2 @nickywhiffin.bsky.social @christeldepienne.bsky.social
www.omim.org/entry/620851
www.omim.org/entry/620851
Reposted by Christel Depienne
Fellow Genetics professors - rejoice! This is pedagogy heaven: the paradigmatic epiallele in calico cats … is built on a cis-regulatory deletion, not a coding mutation!
We can teach it all off 1 paper!
1. Woo
2. Hoooo!!!
H/t @lianafaye.bsky.social
www.biorxiv.org/content/10.1...
We can teach it all off 1 paper!
1. Woo
2. Hoooo!!!
H/t @lianafaye.bsky.social
www.biorxiv.org/content/10.1...
Molecular and genetic characterization of sex-linked orange coat color in the domestic cat
The Sex-linked orange mutation in domestic cats causes variegated patches of reddish/yellow hair and is a defining signature of random X-inactivation in female tortoiseshell and calico cats. Unlike th...
www.biorxiv.org
November 29, 2024 at 3:08 AM
Fellow Genetics professors - rejoice! This is pedagogy heaven: the paradigmatic epiallele in calico cats … is built on a cis-regulatory deletion, not a coding mutation!
We can teach it all off 1 paper!
1. Woo
2. Hoooo!!!
H/t @lianafaye.bsky.social
www.biorxiv.org/content/10.1...
We can teach it all off 1 paper!
1. Woo
2. Hoooo!!!
H/t @lianafaye.bsky.social
www.biorxiv.org/content/10.1...
Reposted by Christel Depienne
I learned some stuff about Bluesky I did not know by reading this.
Maybe worth passing it on to others so we can all start getting the full benefit of the 🦋.
Maybe worth passing it on to others so we can all start getting the full benefit of the 🦋.
Here’s some cool stuff you can do with Bluesky
It’s not just an Alf pics repository.
www.theverge.com
November 17, 2024 at 8:55 AM
I learned some stuff about Bluesky I did not know by reading this.
Maybe worth passing it on to others so we can all start getting the full benefit of the 🦋.
Maybe worth passing it on to others so we can all start getting the full benefit of the 🦋.
Reposted by Christel Depienne
Vous aimez les podcasts, les scientifiques et la communication scientifique ?
Voici ma petite contribution :
🇫🇷🥼Sous la blouse
🇫🇷🎙Scimple
🇬🇧 🥼Under the lab coat
À écouter :
Sur les plateformes audios
Direct sur mon site
www.elodiechabrol.com/my-podcasts
Ou sur Youtube
youtube.com/@souslablous...
Voici ma petite contribution :
🇫🇷🥼Sous la blouse
🇫🇷🎙Scimple
🇬🇧 🥼Under the lab coat
À écouter :
Sur les plateformes audios
Direct sur mon site
www.elodiechabrol.com/my-podcasts
Ou sur Youtube
youtube.com/@souslablous...
November 15, 2024 at 10:17 AM
Vous aimez les podcasts, les scientifiques et la communication scientifique ?
Voici ma petite contribution :
🇫🇷🥼Sous la blouse
🇫🇷🎙Scimple
🇬🇧 🥼Under the lab coat
À écouter :
Sur les plateformes audios
Direct sur mon site
www.elodiechabrol.com/my-podcasts
Ou sur Youtube
youtube.com/@souslablous...
Voici ma petite contribution :
🇫🇷🥼Sous la blouse
🇫🇷🎙Scimple
🇬🇧 🥼Under the lab coat
À écouter :
Sur les plateformes audios
Direct sur mon site
www.elodiechabrol.com/my-podcasts
Ou sur Youtube
youtube.com/@souslablous...
Reposted by Christel Depienne
I couldn't spot a starter pack for rare disease / clinical genomics, so I started one: go.bsky.app/SUWZ9Hw
Very much a work in progress, and biased by who I have already found here, so please suggest people to add! Self-nominations encouraged.
#ClinicalInformatics #genomics #bioinformatics 🖥️🧬
Very much a work in progress, and biased by who I have already found here, so please suggest people to add! Self-nominations encouraged.
#ClinicalInformatics #genomics #bioinformatics 🖥️🧬
November 15, 2024 at 10:30 AM
I couldn't spot a starter pack for rare disease / clinical genomics, so I started one: go.bsky.app/SUWZ9Hw
Very much a work in progress, and biased by who I have already found here, so please suggest people to add! Self-nominations encouraged.
#ClinicalInformatics #genomics #bioinformatics 🖥️🧬
Very much a work in progress, and biased by who I have already found here, so please suggest people to add! Self-nominations encouraged.
#ClinicalInformatics #genomics #bioinformatics 🖥️🧬