Christel Depienne (@christeldepienn) 's Twitter Profile
Christel Depienne

@christeldepienn

Molecular geneticist | Neurogenetics | repeat expansions | chromosome X | snRNA | 🦋@christeldepienne.bsky.social

ID: 949692670758309888

calendar_today06-01-2018 17:22:31

798 Tweet

1,1K Followers

796 Following

Stephan Zuchner, MD, PhD (@szuchner) 's Twitter Profile Photo

Somatic repeat expansion field is getting more interesting!! David Pellerin⁩ ⁦National Ataxia Foundation⁩ ⁦Ataxia Global Initiative⁩ ⁦FA Research Alliance⁩ #Sca27b ⁦Bill Nye⁩ “Somatic instability of the FGF14-SCA27B GAA•TTC repeat with expansion in cerebellum” academic.oup.com/brain/advance-…

Tregouet David-Alexandre (@tregouetbph) 's Twitter Profile Photo

The catalog of all possible SNVs altering existing upORFs or creating new ones (via both canonical  and non canonical TIS) in human transcripts is available on the mobidetails platform ( mobidetails.iurc.montp.inserm.fr/MD/) @soukarieh_omar BORDEAUX POPULATION HEALTH Center University of Bordeaux

Genetics in Medicine (@gimjournal) 's Twitter Profile Photo

More than CAG repeats: Dawson et al. report the largest & most diverse cohort of individuals in a single study with sequence variants in HTT and explore how sequence variants influence age-of-onset in #HuntingtonDisease bit.ly/3BHe11c

More than CAG repeats: Dawson et al. report the largest & most diverse cohort of individuals in a single study with sequence variants in HTT and explore how sequence variants influence age-of-onset in #HuntingtonDisease bit.ly/3BHe11c
Vijay Ganesh (@vganeshmdphd) 's Twitter Profile Photo

Excited to report our study in NEJM on the discovery of deletions in a long noncoding RNA gene 🧬 (𝘊𝘏𝘈𝘚𝘌𝘙𝘙) as the cause of a newly defined human neurodevelopmental disorder 🧠. 🧵1/10 nejm.org/doi/full/10.10…

Florian Kraft (@flokraft_) 's Twitter Profile Photo

I am excited to share our latest research findings with you. We have identified a new group of neurodevelopmental disorders, which we are calling "TRICopathies," caused by de novo mutations in genes encoding the subunits of the TRiC complex. 1/8 science.org/doi/10.1126/sc…

Margaux Hujoel (@hujoelm) 's Twitter Profile Photo

Highly expanded repeats in the 5’ UTR of GLS cause a dominant DNA-repeat disorder. Carriers of expanded GLS repeats had 14-fold [5.7–34.3] increased odds of stage 5 CKD. These associations appeared to be driven by toxicity of expanded alleles rather than loss of GLS function.

Highly expanded repeats in the 5’ UTR of GLS cause a dominant DNA-repeat disorder. Carriers of expanded GLS repeats had 14-fold [5.7–34.3] increased odds of stage 5 CKD. These associations appeared to be driven by toxicity of expanded alleles rather than loss of GLS function.
Alexander Hoischen (@ahoischen) 's Twitter Profile Photo

Christel Depienne …and the RNU4 (and 6) story gets even more exciting! See latest preprint coordinated my wonderful colleagues from the eye genetics field: medrxiv.org/content/10.110…

Veera Rajagopal  (@doctorveera) 's Twitter Profile Photo

Profiling tandem repeats variations in the population using 1027 long read genomes from All of Us cohort. All the samples are from individuals of African and African American ancestries. I remember hearing about this dataset first time at ASHG 2022. Great to see the data out

European Society of Human Genetics (ESHG) (@eshgsociety) 's Twitter Profile Photo

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

Daniel Calame, MD, PhD (@danielgcalame) 's Twitter Profile Photo

Beautiful, impactful work from Nicky Whiffin, Greg Findlay et al: Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders medrxiv.org/content/10.110…

Geronimo (@artyshowboy) 's Twitter Profile Photo

Quand j’ai besoin de me concentrer, je joue ça. C’est redoutable. Je suis Joss Beaumont. Chi Mai | Ennio Morricone | 1971.

Konrad Platzer (@platzer_k) 's Twitter Profile Photo

Amandine Santini presents their recently published paper on dominant variants in U4 & U5 small nuclear RNA genes that cause NDD. They report 145 new RNU4-2 individuals & implicate RNU5B-1 as novel NDD gene & RNU5A-1 as strong strong candidate. #ESHG2025 nature.com/articles/s4158…

Konrad Platzer (@platzer_k) 's Twitter Profile Photo

They established transcriptomic profiles as RNU4-2 cause defects in alternative 5’ splice site usage. Also established an episignature for ReNU syndrome. #ESHG2025

They established transcriptomic profiles as RNU4-2 cause defects in alternative 5’ splice site usage. Also established an episignature for ReNU syndrome. #ESHG2025
Gaël Nicolas (@gjrnicolas) 's Twitter Profile Photo

Warm congrats to Amandine Santini who presented on behalf of an international collaboration led by the great Christel Depienne, on the major RNU4-2 small non coding RNA gene explaining 0.4% patients with a neurodev disorder and identification of at least 1 novel gene RNU5B-1

Warm congrats to <a href="/AmandineSa15417/">Amandine Santini</a>  who presented on behalf of an international collaboration led by the great <a href="/ChristelDepienn/">Christel Depienne</a>, on the major RNU4-2 small non coding RNA gene explaining 0.4% patients with a neurodev disorder and identification of at least 1 novel gene RNU5B-1
Adam Jackson (@adam_jackson89) 's Twitter Profile Photo

We are excited to share our new paper out today in Nature Genetics which explores de novo mutations in DNA secondary structure and identifies two novel #diseasegenes nature.com/articles/s4158…