Geneticists getting called to interpret VUSs 😄

Medical dictation of the word "hemimegalencephaly" (all in the same medical note) - hemi megal insufflate - semi medical and cephalad - heavy metal and supple - heavy metal insufflate - heavy metal encephalopathic

To all who matched this week, congratulations!! (esp. those joining the field of taking care of little humans, welcome! Peds is the best 🥰) To those who didn't match, including internt'l grads (my peeps), don't lose hope. You've worked so hard & this is just a bump in the road.

A combination of sun and snow and a curious (hungry) bird

Here we go again... Every year, I have to share the spotlight with Dubs. 🙄 ...I guess he's pretty cute. 🐾 #NationalPuppyDay

Wow, first time epic message in my career, had to do a double take. I think this is twitter-worthy (and I think maybe merits taking Friday off?😄)

UW looked so beautiful today ❤️ UW Cherry Blossoms

Eid Mubarak to everyone who celebrates

Work like this is really needed... the time for rare disease therapeutics is now.

Join us in Seattle for our next CURE Epilepsy CARES event. This is a free, educational event for #patients, families, #MedicalProfessionals, #researchers, and all those touched by or interested in learning more about #epilepsy. cureepilepsy.org/event_type/cur… #epilepsyeducation

I just signed up for the @epilepsyfdn #WalktoEndEpilepsy! Join me in making a difference for the epilepsy community today and make an impact for the 3.4+ million Americans living with #epilepsy. do.nr/62lze3 via DonorDrive

Brain somatic mutations in the SLC35A2 gene lead to glycosylation defects, causing cortical malformation and seizures. This study shows that galactose supplementation could potentially mitigate these effects. Promising steps towards understanding and treating epilepsy!

Hey #epilepsy #neurology #genetics #GeneChat colleagues - please fill out this International League Against Epilepsy survey on genetic testing for epilepsy! Esp looking to increase USA representation. Available in 5 languages. Ingo Helbig Epilepsy Genetics Program Ghayda Mirzaa, MD Emily Bonkowski Please RT!

Happy to share our latest paper: Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dy... sciencedirect.com/science/articl…

hbr.org/2023/07/why-ki…

Had a great time at the TOR de France meeting. Enjoyed the excellent science among wonderful friends & collaborators. The future of the field is promising!

Excited to be giving a talk & catching up with colleagues and friends in lovely Vancouver at the terrific BC Children’s Research institute BC Children's Hospital Research Institute

Dr. Marie Greally is the reason I became interested in genetics. I am so grateful for her mentorship and friendship over the years. A truly wonderful person all around. A well deserved honor ❤️