.
Cleveland, OH
Joined January 2019
- Tweets34
- Following323
- Followers61
- Likes265
Arthur Stefanski retweeted
NATO is a Cold War relic that needs to be relegated to a talking kiosk at the Smithsonian.
Arthur Stefanski retweeted
Check out our new article on #SLC6A1 variant pathogenicity, molecular function, and phenotype📢
All data can be interactively explored in the SLC6A1 Portal (slc6a1-portal.broadinstitute…)‼️
#Epilepsy🧠 #Genetics🧬
@LalDennis @EdoPerezP @arthurste 💪👏
academic.oup.com/brain/advan…
Arthur Stefanski retweeted
With Yuri Zarate, we developed the satb2-portal.broadinstitute.… sharing the largest curated #SATB2 disorder dataset. Hopefully the analytics & documentation will empower families and enhance clinical use of genomics 🧬. Check it out. Great work by @BruengerTobias, @arthurste
Arthur Stefanski retweeted
#humbled 🙏 This months three editorials/commentaries where published on 3 new papers from our team around @gramm_marie, @BruengerTobias, @Sumaiyalqbal, @EdoPerezP and larger team.Great to see that our work is read & critically discussed.Thank you. #variantinterpretation #ACMG
Arthur Stefanski retweeted
Pretty proud 💪that the NINDS director @NINDSdirector featured a polygenic risk study that builds on our previous work with @CostinLeu. He also featured our recent oligogenic paper with @arthurste. Cool to see that people read our work 🤩. Go genetics 🧬 ! @CCLRI
Arthur Stefanski retweeted
Cleveland Clinic launched the largest clinical study ever for brain disease.
The goal is to prevent neurological diseases like Alzheimer's, Parkinson's disease, multiple sclerosis, stroke & epilepsy. #NationalAlzheimersAwarenessMonth
Learn more: clevelandclinic.org/brainstu…
Arthur Stefanski retweeted
Brünger et al. identify biological properties associated with ion-channel malfunction and show that they are correlated with in vitro functional read-outs and clinical phenotypes in patients with neurodevelopmental disorders. bit.ly/3Rs24yY
Arthur Stefanski retweeted
Joining the kick-off of the #CACNA1A 2022 conference @cacna1a with @LeahEDSCN2A and team @arthurste , @EdoPerezP , @AlinaIvaniuk #ionchannels #RareDisease #epilepsy #ataxia #migraine . A lot of community building & science ahead
Arthur Stefanski retweeted
Please tell others that take these. We expect to add more than 1k more meds over the next 12 months, if not sooner.
Arthur Stefanski retweeted
Looking through some older presentation slides from a couple years ago (that I never used) in preparation for a talk. I wonder when this type of analysis will finally enter the rare disease space. Still haven’t seen an example. Important considering that no patient is drug-naive.
Arthur Stefanski retweeted
#Rarediseas are not rare on a global scale. If the worlds starts sharing data even for rare disorders e.g. monogenic #epilepsies #SCN1A #Dravet outcome prediction models are possible. An international team effort of many by @a_brunklaus & @EdoPerezP
lerner.ccf.org/news/details/…
Arthur Stefanski retweeted
Dr. Robert Malone is a valuable expert contributor to much-needed discourse on a range of COVID policy issues. It's unconscionable that Twitter has seen fit to 'protect' me & other twitter users from his comments. #ReinstateRWMaloneMD #WeAreNotChildren
Proud to present our SLC6A1 disorder info Video in collaboration with @SLC6A1_Mom and many contributors in @GroupLal & @Katrine92658231 @FiladelfiaGene1 youtu.be/No9SDig4WQQ
