Sissy Bassani

PostDoc at @UZH in love with Human genetics 👩‍🔬🧠, LoveTraveling 🌍, Dancer💃

[Sissy Bassani @BassaniSissy]

Too much or too little: The impact of protein dosage on development! 🧠 Check it out
https://t.co/008M233yPw

[Sissy Bassani @BassaniSissy]

Extremely happy to receive the Poster Award at #ESHG2024 on our #AFF3 project.! 🥳🧠
Congratulations to all the awarded scientists! 👩🏼‍🔬🎉🧬

[Sissy Bassani @BassaniSissy]

What a Fantastic Mendel award lecture of Jim Lupski at #ESHG2024, so inspiring and moving!

[Exeter Rare Disease @RDExeter]

Incredibly moving & inspirational #ESHG2024 Mendel award talk from the great Jim Lupski
Aside from his incredible scientific & clinical contributions, Jim never fails to actively support & push forward those of us earlier on in our careers
A great man and a great mentor to many

[Sissy Bassani @BassaniSissy]

@LizaMGD Thanks a lot! 🥰

[Sissy Bassani @BassaniSissy]

What a fantastic conclusion of #ESHG2024 🎉

[James Fasham @JamesFasham]

#eshg2024 awards 🏆
Early Career Poster Awards👏🏼

[Sissy Bassani @BassaniSissy]

Excited to present at the #ESHG2024 our last project on #AFF3 published on @GenomeMedicine few days ago! 🎉Come to the #Poster P.10.001.D 🧠 at the 15.45h session to discover how we dived into the pathophysiological mechanisms of variants in AFF3 gene 🧬

[James Fasham @JamesFasham]

P10.001.D @BassaniSissy
I'm learning more and more about AFF3 conditions at #eshg2024. This poster nicely explains the mechanisms and conditions

[Sissy Bassani @BassaniSissy]

🎯 NEWS 🎉
Excited to share that my last work on KINSSHIP Syndrome is finally out in @GenomeMedicine Journal! 🔬👩🏼‍🔬
Check it out ⬇️ and come to know more about it at the #ESHG posters session! 🧠

https://t.co/uexB4SGCtK

[Sissy Bassani @BassaniSissy]

I am happy to share that my first collaboration with my new lab at UZH is out in the #AJHG! 🥳 Our study reveals that variants in ANO4 cause sporadic encephalopathic or familial #epilepsy with evidence for a dominant-negative effect! 🧠
Check it out : https://t.co/1M6nMUZM0k

[Sissy Bassani @BassaniSissy]

@simrubk Wooow Congratulazioniiiii 🍾🎈🎊 Good luck!!!

[Sissy Bassani @BassaniSissy]

🚀 Exciting news !! 📢 Thrilled to share that our latest work on AFF3, discovering the distinct impact of gene variants on the transcriptome profile, is now available on 🎊@medrxivpreprint!🧬 Check it out
https://t.co/mBFLxYqWp6

@unil #genetics #transcriptome #KINSSHIP

[Sissy Bassani @BassaniSissy]

I am grateful for the opportunity to present our latest findings at the #ASHG2023 conference in Washington, D.C. 🎉🤩👩🏼‍🔬
Our work focuses on AFF3 gene mutations and their distinct impacts on the transcriptome profile, which lead to mild or sever #neurodevelopmental disorders.

[Sissy Bassani @BassaniSissy]

Getting ready for a new day at #ASHG2023 👩🏼‍🔬

If you are interested in new #pathophysiological mechanisms in #rare #diseases , come find me this morning at the “New mechanistic insights via diverse knockout models“ session!🧬🎉

[Sissy Bassani @BassaniSissy]

Amazing show of @macklemore at the @PacBio party 🎉
#ASHG2023

[Sissy Bassani @BassaniSissy]

Getting ready for the #ASHG2023 in Washington DC 🤩🥳

[Scottish Event Campus @SECGlasgow]

It was great to have everyone on our Campus for a record-breaking #ESHG2023!

[Sissy Bassani @BassaniSissy]

I am very happy to had the opportunity to presented our latest results on #BRF2 and Neurodevelopmental disorders at the #ESHG2023 this year in Glasgow! 🧬👩🏼‍🔬🎊

[DiseaseGenes @DiseaseGenes]

RT @JamesFasham: @BassaniSissy in Hall 5 #ESHG2023

BRF2 is a novel candidate AR #MorbidGene for craniofacial anomalies & cognitive impairment

Phenotype is Treacher-Collins like and gene is in pathway with POLR1C/D

[Sissy Bassani @BassaniSissy]

@shahida_moosa @DiseaseGenes @JamesFasham Hi Shahida! Thank you for your interest, we’re on it and soon it will be submitted! Let’s have a chat if you want to know more info 😊

[Sissy Bassani @BassaniSissy]

Excited to present and I discuss our last work on BRF2 and NDD C.24.4 at #ESHG2023 today at 11.45h in the Intellectual disability session, Hall5! 🤩 Don’t miss it 👩🏼‍🔬