Anne Goriely

[Dr Ali Kay 🧬📚🌳 @AliMakesHay]

What’s it like to be told your child has a genetic condition caused by a de novo (new) genetic change? Did it impact how you felt about having more children? Our NIHR-funded interview study at the University of Oxford is now open to participants. #genetics #diagnosis #DeNovo

[Shahida Moosa #StopTheGenocide @shahida_moosa]

#IPNA2025
Update on Inherited Diseases:
Awesome speakers this morning. I gave a quick rundown on which children to test!
Paeds Nephro is really using genomics to benefit our patients!
Time for #Africa to adopt #genomics in kids kidney care!
@RareGenomicsRSA >50% diagnosis!

[Eric Topol @EricTopol]

Genetic underpinnings of menopause age and connections with cancer risk, new mutations in children and reproductive longevity
@Nature https://t.co/YkbbEoK7Mg @AnnaM1966
https://t.co/9sWVPtOZSj @AGoriely @NatureNV

[Rob Beagrie @RobBeagrie]

🚨 Job alert

Hiring a postdoc (comp or wet lab) to work on chromatin & genetics 🧬

Come work with us @HumanGeneticsOx in the beautiful @UniofOxford

🗓️ Closing September 13th

Details at https://t.co/TRLXH3hKfS

Pls share and RT!

#PostdocJobs #GeneticsJobs #genomics #cohesin

[AJHG @AJHGNews]

📢Online now!
📰SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline
🧑‍🤝‍🧑@katherineawood9 @AGoriely & colleagues
https://t.co/tF4vvjZIk1

[Rod Mitchell @RodTMitchell]

⚽️ Kicking off #ESHRE2024 annual conference with @JanStukenborg speaking at the pre-congress course on #FertilityPreservation. Looking forward to 4 days of reproductive medicine 🥅

[Goriely Lab @GorielyLab]

Pregnancy decisions can be hard after having a child w/ a genetic condition. Latest @Gorielylab research on a new strategy:“Professionals’ views on providing personalized recurrence risks for de novo mutations”@AliMakesHay JWells @AGoriely NHallowell https://t.co/Y5XBxCfNrE 1/10

[AJHG @AJHGNews]

📢New from @alistairp2011 & colleagues
📰The impact of inversions across 33,924 families with rare disease from a national genome sequencing project
#genomes100k
https://t.co/qgujMXZZPX

[Serge Nef @SergeNef1]

Heading to Denver for NATW and the American Society of Andrology Annual Meeting. Truly honored to deliver the keynote address.

[Nicky Whiffin @nickywhiffin]

Yuyang identified a highly recurrent de novo variant in @GenomicsEngland, in 46 individuals, all with undiagnosed NDD. It was not in any diagnosed probands, or unaffected individuals in GEL. It is absent from population cohorts, apart from a single individual in UK Biobank. 3/n

[Clyde Francks @ClydeFrancks]

Is genetic disposition to #dyslexia associated with brain structure? @neurosoren investigated in over 30,000 adults using data from @uk_biobank & @23andMeResearch , highlighting brain networks involved in motor, language and vision functions https://t.co/QjXUuKARnE 1/8 ⬇️

[Rod Mitchell @RodTMitchell]

🚨 We are looking for males (or a parent) who have had #ChildhoodCancer 🚨to help us design a new resource to help other young males to make decisions about their future #Fertility. Interested? 👉 https://t.co/kmzvwZdBD5

[Rob Beagrie @RobBeagrie]

Applications are now OPEN for an internship in my group at Oxford University. Open to UK undergraduates from under-represented and disadvantaged backgrounds – apply by Wednesday 21 February 2024 to join us this summer: https://t.co/LboVIE2D8U

[Anne Goriely @AGoriely]

please RT

[SSR @SSRepro]

💡 Want to showcase your research findings in front of hundreds of industry leading scientists and reproductive biologists? 📣 SSR is NOW accepting abstract submissions for the 2024 Annual Meeting! Submit yours now! ➡️ https://t.co/ItZ8Hav1C8
#SSR2024 #reproduction #biology

[SSR @SSRepro]

Save the date for the Pre-Conference Symposia on July 15-16, 2024! Join us for the 1st International Domestic Animal DoHad and Epigenetics Symposium. Check out the flyer to learn more! 👉 https://t.co/xqjVzS2SoO #SSR2024 #ReproductiveScience

[mutationmeeting @mutationmeeting]

Our organisers will be presenting their work or leading discussion panels- join them in giving a platform presentation.

The deadline for abstract submission is in 3 days!

Register at https://t.co/HTcadDuQmt

[Allan Pacey MBE @AllanPacey]

If you've experienced male infertility, you could help shape future research in this area by completing the attached (quick) survey form. It's part of the PPIE process for a new study. Please RT: https://t.co/ztvK6rGhBC

[Alexander Hoischen @ahoischen]

That was a great “poster session” thanks @PacBio! I’d propose this speaker for a poster price, great Q&A and interaction with audience #ashg23

[Unique @Unique_charity]

We want to ensure that anyone affected by a rare chromosome or gene disorder can access information & support , regardless of their background. We're delighted to have reached the milestone of translating 500 of our information guides into languages other than English. 1/2....