R-Synapse
@ruhrsynapse.bsky.social
Neuroscientist, human genetics @UK Essen
Views are their own.
Views are their own.
Thanks for reporting about the parallel sessions and highlights, @nickywhiffin.bsky.social @jamesfasham.bsky.social @pilarcacheiro.bsky.social @zornitza.bsky.social @agnescaruso.bsky.social and all #eshg2025
I got incredible feedback and will work hard to implement it by next year.
I got incredible feedback and will work hard to implement it by next year.
May 27, 2025 at 3:43 PM
Thanks for reporting about the parallel sessions and highlights, @nickywhiffin.bsky.social @jamesfasham.bsky.social @pilarcacheiro.bsky.social @zornitza.bsky.social @agnescaruso.bsky.social and all #eshg2025
I got incredible feedback and will work hard to implement it by next year.
I got incredible feedback and will work hard to implement it by next year.
Reposted by R-Synapse
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 R-Synapse
AS - also identify 17 individuals in RNU5B-1 and 3 in RNU5A-1 - all within a conserved stem-loop region.
Such beautiful work!
Recently published here: www.nature.com/articles/s41...
#eshg2025 2/2
Such beautiful work!
Recently published here: www.nature.com/articles/s41...
#eshg2025 2/2
www.nature.com
May 25, 2025 at 9:29 AM
AS - also identify 17 individuals in RNU5B-1 and 3 in RNU5A-1 - all within a conserved stem-loop region.
Such beautiful work!
Recently published here: www.nature.com/articles/s41...
#eshg2025 2/2
Such beautiful work!
Recently published here: www.nature.com/articles/s41...
#eshg2025 2/2
Reposted by R-Synapse
Next: Silvestre Cuinat, to the minor spliceosome RNU4ATAC - through collaboration build a cohort of 63 new patients and compared to 104 in literature - broad phenotypic spectrum including autoimmune comorbidities. Now 48 P/LP variants (15 novel) - 25% of all nts (far higher in key domains) #eshg2025
May 25, 2025 at 8:57 AM
Next: Silvestre Cuinat, to the minor spliceosome RNU4ATAC - through collaboration build a cohort of 63 new patients and compared to 104 in literature - broad phenotypic spectrum including autoimmune comorbidities. Now 48 P/LP variants (15 novel) - 25% of all nts (far higher in key domains) #eshg2025