Devon Bonner (she/her)

Genetic Counselor @StanfordCUD @UDNConnect All tweets are my own.

[Rare Disease Day @rarediseaseday]

TODAY is #RareDiseaseDay! 💙💚💜

All over the world, the rare disease community are sharing their colours and demanding equity for people living with a rare disease.

As a global community, we have a powerful voice! 📣

How are you sharing your colours today? 👇👇👇

[Devon Bonner (she/her) @Dev_Bonner]

Many thanks to @MeloUira, @kcklloyd, Heather Byers and all the co-authors who made this a successful collaboration!

[Devon Bonner (she/her) @Dev_Bonner]

Happy to share our manuscript published in @GIMJournal describing a novel #raredisease caused by biallelic loss-of-function variants in UBE4A. https://t.co/tj5bueMVWa

[Devon Bonner (she/her) @Dev_Bonner]

Mice generated @ucdavis to mimic patient-specific loss-of-function variant exhibited muscular and neurological abnormalities seen in affected individuals.

[Jemele Hill @jemelehill]

I have no idea who did this, but if you know, find them and tag them. One of the best things I’ve seen on this app this week

[UDN @UDNconnect]

We've got 7 UDN posters coming up this afternoon at #ASHG19! Topics: precision med (417); mendelian phenotypes (1167, 1287); bioinformatics (1563); statistical genetics (2967); molecular & cyto dx (2613) & complex traits (1980)

[UDN @UDNconnect]

Now online in @GIMJournal: Hane Lee & colleagues share findings from RNASeq on 113 undiagnosed patients referred to UDN clinical site @UCLAHealth. Questions? Come to her talk during the RNASeq session at #ASHG19 on Thursday afternoon https://t.co/wqr1TA16DR

[UDN @UDNconnect]

One month until #ASHG19! There are >20 UDN related talks and posters this year. Check out the full list below and on our website: https://t.co/djXQLtXBTh

[UDN @UDNconnect]

Thank you #ACMGMtg19 - we learned so much and loved seeing so many new and familiar faces. See you next year!

[UDN @UDNconnect]

Thank you #ACMGMtg19 for a fun & memorable opening reception 🥁 see you tomorrow at 9am- we’re over in 4C across from ACMG & the #ACMGFoundation Day of Caring bikes!

[Matthew Wheeler @MWheelerMD]

#ACMGMtg19 #ClinPhen link here https://t.co/1GCwE3lmI4

[Matthew Wheeler @MWheelerMD]

#ACMGMtg19 3.7 seconds per medical record; #ClinPhen consistent time regardless of length of record; #Phrank to rank phenotypes; 3 important phenotypes optimizes positive generank; replication across @MantonCenter @Duke_Childrens @UCLA

[Matthew Wheeler @MWheelerMD]

@stanford Johannes Birgmeier from Gil Bejerano lab presenting #ClinPhen #ACMGMtg19 #top4abstract automated extraction of #HPO terms from free text clinical notes work with @StanfordChild Jon Bernstein @stanford_CUD @MantonCenter @Duke_Childrens @UDNconnect

[Devon Bonner (she/her) @Dev_Bonner]

@MWheelerMD How did I miss the marching band?

[Devon Bonner (she/her) @Dev_Bonner]

Shelin Adam MSc @UBC reports that decisional regret was higher in 194 families who remained undiagnosed after WGS, and highlights an important issue for post-test genetic counseling in this population. #ACMGMtg19 #GCchat #raredisease

[Matthew Wheeler @MWheelerMD]

Out now - a collaborative case from @StanfordMed @stanford_CUD @UDNconnect @stanfordimmuno starting with @StanfordMedRes referral. A Patient with Sjogren’s Syndrome and Subsequent Diagnosis of Inclusion Body Myositis and Light-Chain Amyloidosis https://t.co/YF6WyzabJv

[UDN @UDNconnect]

Information about the UDN now available in Spanish on our website! ¡La información acerca de la UDN ya está disponible en español en nuestro sitio web! https://t.co/6TxChmJEBo

[Devon Bonner (she/her) @Dev_Bonner]

@savanhy Save some to watch with me ❤️