Top Tweets for #Recessive
Pleased to announce that our paper, Meta-analysis across six global biobanks identifies recessive coding associations with complex traits and diseases, is now officially published by @AJHGNews.
A quick 🧵 below:
https://t.co/fpnNzf17nO
#recessive #GWAS #metaanalysis #genomics
@Ddysmo @alkuraya @mft_iMRare @EpiGenRare @EdinburghUni @PolicyLabCHOP @mikeyab6872 @RDRUKHub @AJHGNews @smbanka @FBMH_UoM @OfficialUoM @adam_jackson89 @MFTnhs @j_ellingford @GenomicsEngland @StefanBarakat Previously we heard about #dominant #RNUpathies (RNU2-2 and RNU5B-1)
The next talk Dr Alex Blakes described a #recessive #RNUpathy
RNU4-2-related neurodevelopmental syndrome characterised by distinct white-matter changes
📰 👉Check out preprint https://t.co/gbvMs4IjLe
#MDC25

@elonmusk Go into the "why".....😆 science and many a scholar talked about the #recessive genes and SUN and climate change affect on those without melanin, AND......😆😆😆
#MovementDisordersRound #Cayman #ataxia #ATCAY #Caribbean #recessive #ataxia #neurogenetics
First case of Cayman ataxia far north of the Caribbean: A 20-year-old Inuit male with homozygous deletion in ATCAY gene
https://t.co/4gUsyA1nLU
@PRDAssociation

Estimating Lifetime Risk of Autosomal #Recessive #Kidney Diseases Using Population-Based #Genotypic Data
#VisualAbstract by @DrPSVali
https://t.co/J8a6E4gKiJ
@MC_Braunisch

It's time to update our understanding of X-linked inheritance based on penetrance, expressivity, and X inactivation! #recessive #dominant #NotJustCarriers https://t.co/KeSoXWNP21

@ganj27 @Vincy_Rob @ShaawalYah111 Don't worry about Walgreens. Worry about Nature telling you it's last call for your ppl. Clubs about to close, hope you had your fun! #recessive
Dr #KThangaraj from @ccmb_csir on the massive #recessive diseases in #India @InBixAdnat2024 @AdnatSociety#BHU

Study from the @LupskiLab, @zcoban, @song_xiaofei, D Pehlivan, @CMBCarvalho, @poseypod et al reveals how #genes act in different populations to contribute to different #recessive genetic disorders. @bcmgenetics #raredisease https://t.co/d57IZ4ANHS via @bcmhouston
Today’s EHA #ThinkingThursday focuses on the genetic inheritance pattern of #hemophilia A #coagulation factor 8 deficiency. Can you fill in A, B and C?
Share your guesses below or swipe for the answer.
#bleedingdisordersawarenessmonth #bleedingdisorder #recessive

.@LupskiLab @zcoban @CMBCarvalho @song_xiaofei @Ceballos_Gene @poseypod et al show how #genes contribute to different #recessive #geneticDisorders in different populations. @GREGoR_research @UTHealthSPH @bcmhouston @TexasChildrens @bcmgenetics @GIMJournal https://t.co/XSKQQRoNUT
GenePy is a useful adjunct for prioritizing #recessive conditions in analysis pipelines https://t.co/Ax3tsD4oRF #raredisease #nextgenerationsequencing #100KGP


#CRELD1 is not just a congenital heart defect gene. A #recessive disorder with biallelic #CRELD1 variants is implicated in a multisystem syndrome with #neurodevelopmentaldelay #epilepsy and #arrhythmia https://t.co/d3Mvg78TDE

5th grd Ss learning about #Genetics #dominant and #recessive #genes by working with a partner, flipping a coin and #creating a monster kid. Then using @3Doodler #3D pens to make their monster kid come to life! #STEM #Science @MCSDigital @MooreSchools

Efthymiadou et al. studied the genetic etiology of patients with a clinical, biochemical & hormonal profile suggestive of a mild & #transient form of #pseudohypoaldosteronism type 1 (PHA1) - new in @AJPEndoMetab!
https://t.co/zRrpNcjnXm
@ecolebiolunil #PHA1 #recessive #SCNN1A

For recessive conditions, @BillionToOneInc's @unityscreen provides the pregnant patient's carrier status AND fetal risk on the same report (for carriers). Watch below to see how this consolidated info optimizes patient counseling: https://t.co/ox5G40VUnm
#NIPT #cfDNA #recessive
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