Top Tweets for #MorbidGenes
On Oct 8th, 1530h, @RuizhiDeng will defend her PhD thesis "Unravelling the dark matter of the genome: towards shortening the diagnostic odyssey for neurogenetic disorders using functional genomics and bioinformatics"
live stream:
https://t.co/AW5PKBJBfF
#genetics #morbidgenes
However, through great work at @GeneDx, and collaborations with @Centogene and @reversade, we found additional patients with biallelic variants and matching phenotypes in the genes CRELD1, KBTBD2, ZDHHC16, HECTD4, and ATAD2B #morbidgenes
New international collaborative work (incl. our group) delineating the clinical spectrum of TOKAS:
https://t.co/fAh6EVRNXA
#Xchromosome #RLIM #RNF12 #genetics #morbidgenes
@ErasmusMC @ERNIthaca
Lots of novel neurological #MorbidGenes from ECRs in Room A3 this evening #eshg2024 ๐ง
Laura Castilla-Valmanya - #TRIM28 causes AD NDD via silencing TEs
Maria Cerminara - AD #FAN1 variants (inc whole gene dels) cause NDD,
Valentina Serpieri - #TTL causes AR tubulinopathy
New year rapidly advancing, so time for a new group picture of the Barakat lab! These are all the bright and enthusiastic people behind our science @ErasmusMC @Erasmusgenetica working on #raredisease #genetics #morbidgenes #functionalgenomics #brain #bioinformatics
Getting ready for #ICHG2023 in exciting Cape Town! Looking forward to a great scientific meeting, making many New friends in South Africa & presenting some of our latest work
#genetics #RareDiseases #neurotwitter #brain #morbidgenes
@Erasmusgenetica @ErasmusMC
@platzer_k Sounds like an amazing trip - thanks for sharing it with us ๐ค
Now back to #epilepsy #genetics research and #MorbidGenes discovery ๐ช
Cooperation with Gรถttingen revealed a new NDD gene: The Article in #HumanMutation is now available online at: https://t.co/m9bcMyZ1Hk and
https://t.co/cYtxk3c8yF #MorbidGenes #SARS1 #WARS1
Thx to @BerndWollnik & @ElisaKrawczyk ๐งฌ
A novel neurodevelopmental disorder is caused by de novo variants in #ATP2B1 via disrupted Ca2+ homeostasis. Great work by my colleagues from #Leipzig incl. @MeretWeg @RamiJamra lead by Henry Oppermann. Newest addition to the list of #MorbidGenes... ๐
https://t.co/DJeMzGWe36
Exiting paper led by our talented colleaguest @platzer_k, @lemke_johannes, @RamiJamra from Leipzig and others๐They identified #PPFIBP1 as a cause of #neurodevelopment impairment,#microcephaly and #epilepsy. And check out their list of #MorbidGenes. @CheckOrphan
@rarediseaseuk
๐จ New preprint ๐จ We establish #PPFIBP1 as a novel #MorbidGenes. Bi-allelic LoF variants cause a spectrum of severe ID, microcephaly, #epilepsy and periventricular calcifications. ๐
๐จ New preprint ๐จ We establish #PPFIBP1 as a novel #MorbidGenes. Bi-allelic LoF variants cause a spectrum of severe ID, microcephaly, #epilepsy and periventricular calcifications. ๐
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy and periventricular calcifications https://t.co/ykt0MCVMjI #medRxiv
Next up is @AllanBayat from group of @FiladelfiaGene1 on PIGopathies (congenital disorders of glycosylation). 29 genes involved in GPI anchor synthesis. 22 are #MorbidGenes. All are AR except PIGA which is X-linked #LEGOLAS
#MorbidGenes
https://t.co/dH8NTFtDhq
@berntpopp @RamiJamra @eshgsociety First draft of the #MorbidGenes website is online. More to come soon...
https://t.co/dH8NTFLe8Y
๐จ Our #MorbidGenes panel is online thanks to great work by Robin-Tobias Jauss, @berntpopp & @RamiJamra. We will update monthly. More to come, including a website & presentation at #ESHG2022 @eshgsociety... ๐
https://t.co/AI4QhnIpZF
Last Seen Hashtags on Sotwe
feetforbbc
Seen from Italy
wedgie
Seen from Colombia
creampie
Seen from Canada
์ ์๊ฒ์งํ๋ฅผ
Seen from United States
rashmer con
Seen from Italy
pakistani porn() +filter:native_video
Seen from United States
bop bj
Unexcepted
Seen from Canada
taboo mom
Seen from United Kingdom
belledelphine
Seen from Turkey
Most Popular Users
Elon Musk 
@elonmusk
241.5M followers
Barack Obama
@barackobama
118.9M followers
Cristiano Ronaldo
@cristiano
114.6M followers
Donald J. Trump
@realdonaldtrump
111.8M followers
Narendra Modi
@narendramodi
107.1M followers
Rihanna
@rihanna
98.7M followers
NASA
@nasa
92.3M followers
Justin Bieber
@justinbieber
91.8M followers
KATY PERRY
@katyperry
90.1M followers
Taylor Swift
@taylorswift13
84M followers
Lady Gaga
@ladygaga
75.5M followers
Virat Kohli
@imvkohli
73.5M followers
Kim Kardashian
@kimkardashian
70.9M followers
YouTube
@youtube
68.8M followers
Neymar Jr
@neymarjr
66.6M followers
Bill Gates
@billgates
65.3M followers
Selena Gomez
@selenagomez
63.1M followers
The Ellen Show
@theellenshow
62.2M followers
CNN
@cnn
61.8M followers
X
@x
60.7M followers