Top Tweets for #Genematcher
The power of #datasharing and #functionaltesting: Ebstein et al. describe the consequences of USP14 biallelic loss-of-function variants and associated #neurodevelopmental disorder https://t.co/ITaYBCbAWT #GeneMatcher #neurogenetics
The power of #datasharing and #functionaltesting: Recurrent de novo heterozygous variant in FEM1B associated with a severe syndromic #neurodevelopmental disorder https://t.co/yDK9cUB7Xw #GeneMatcher #neurogenetics @francois_leco @Labo_GAD
Meghan Towne explains the importance of continued gene-disease relationships discovery for the #genomics community. Explore how labs can push discovery forward, especially for rare and ultrarare conditions. #raredisease #GeneMatcher #genechat #exome
https://t.co/XykTHlss0j
Haha, I always thought that #Genematcher was #Tinder for researchers but never thought #academic speed dating could be a way of making new #Research connections 🤣
#Match_Making #neurotwitter A fun experience and I actually found new potential collaborators 🤜🤛 @DRLmolpharm
After this fantastic program we continue with our #social program where we get the chance to get to know each other with #academic #SpeedDating =) #match_making_23
RABGAP1 variants cause a novel neurodevelopmental syndrome. #genematcher, #mTOR, #neurodevelopment https://t.co/OHIbCdaaF8
@CzerwinsMarcin The real hero of this project is Dr. Serena Galosi, physician-scientist who thanks to #GeneMatcher gathered large group of clinicians and scientists interested in understanding the role of #DHDDS in neurological disorders. We were happy to contribute with functional studies.
Did you know you can use the #GeneMatcher to find other patients/ animal models for novel candidate disease genes? @AdaHamosh #JHMBootCamp
One thing that has to be said about this #genematcher cohorts + preprint is how fast these new genes can be used clinically for new diagnosis +/- prenatal diagnosis. Awesome and so relevant for families !
new preprint incl our group, describing among others GLRA2 as disease gene: Drosophila functional screening of de novo variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases #RareDisease #erasmusmc https://t.co/YtT9j0ZYVr
We are discovering completely new biology here, and it's not just in remote labs - it's real, it's everyday life, it's making a difference. Tools like #genematcher help us connect across the world in this collaboration - UK, EU, US, AUS, SA, ISR, IRL, IN, JP etc etc.
We try to identify other similar patient by #GeneMatcher, without success.
And we expect that additional phenotype will be developed when our patient get older
@GabiAVasques remember me to discuss about this case
#FMUSP
#FAPESP
@orionbuske @dgmacarthur @MatchMExchange @GeneMatcher First of many novel genes added to #GeneMatcher by #GOSgene #Share-to-care-for-rare
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