Join Alison Muir at 9:15am for Program 314 in room 6F - The genetic landscape of the developmental and epileptic encephalopathies. #ASHG18

Work by one of our collaborators facebook.com/story.php?stor…

facebook.com/story.php?stor…

Work from some of our UW-CMG collaborators explores the effects of variants in NOTCH1 on congenital heart defects

Amazing work from multiple UW-CMG collaborators including 1 of Dr. Heather Mefford @hcmefford.bsky.social’s amazing research scientists Amy LaCroix as 1st author. WES, WGS couldn’t find it. Sanger barely worked. Solution=restriction digests & Southern blot?!?!

NIH-supported Centers for Mendelian Genomics (CMGs) leverage past achievements for future success Jennifer Posey zeynep coban akdemir @adahamosh Anne O'Donnell-Luria Heidi Rehm Daniel MacArthur Jessica Chong @jansonwhite goo.gl/7AG31v

Families & patients with #RareDiseases, as well as clinicians & researchers, can use mygene2.org UW Medicine Center for Mendelian Genomics to connect with each other & help discover causes & diagnoses for rare genetic conditions #RareDiseaseDay MyGene2 UW Genome Sciences

It’s that time of year again! UW-CMG running our annual Mendelian data analysis workshop. Learn how to go from VCF->gene discovery/diagnosis! apply here: bit.ly/uwcmgworkshop Aaron Quinlan brent pedersen

Great for those interested in a high level view of variant interpretation. Once you gotten excited from the Broad course, follow up with our Mendelian analysis course in August and learn how to get your hands dirty with the raw data! :) bit.ly/uwcmgworkshop

Accepting applications for our 7th annual rare disease/Mendelian analysis workshop this August! Learn how to QC, annotate, and analyze ES/WGS data to discover genes and diagnose #raredisease bit.ly/uwcmgworkshop Aaron Quinlan brent pedersen

Do you think we're approaching the end Mendelian gene discovery? In this month's issue, mike bamshad, Jessica Chong & Debbie Nickerson say think again; the end is nowhere in sight bit.ly/2lFDG33

Advances in #genetic research can help end the problem of a "diagnostic odyssey": n.pr/35zeTjX Locally, UW-CMG & MyGene2 are working to discover genetic disorders and advance #PrecisionMedicine.

I’m thrilled to share the next chapter in a great collaboration b/w the Dan Doherty, U of WA, Bachmann-Gagescu lab, U of Zurich (Tamara Rusterholz, grad student), & Roepman lab, Radboud U (Brooke Latour, grad student). bioRxiv viewer disq.us/t/3j9syik

Our latest collaborative #genetics paper online! CEP85L variants & posterior lissencephaly. Clustered pathogenic variants, striking MRI findings, intractable #epilepsy, variable cognitive outcomes, pericentriolar protein localization. cell.com/neuron/fulltex…

Preprint for our newest #RareDisease gene discovery w/@mikebamshad UW-CMG TalbotLab Debnick. This has been the works for almost SIX years (glad we shared our initial cases on MyGene2 years ago!) 1/10

Congrats to my co-first authors brooke latour & Tamara Rusterholz on acceptance of our latest paper "Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome" now available at Journal of Clinical Investigation ! jci.org/articles/view/…

Congrats Julie Craft Van De Weghe, PhD Dan Doherty UW-CMG - yet another ciliopathy gene discovery! Human Genetics and Genomics Advances

Deletion of CTCF motifs can lead to a Mendelian disease, acheiropodia (limb truncation). A project we started 10 years ago and spearheaded by the outstanding Aki Ushiki along with numerous other amazing collaborators too long to list here. nature.com/articles/s4146…

Another new #epilepsy NDD #RareDisease gene 👇👇 Great international MyGene2 GeneMatcher collaboration w/ Prof Ingrid Scheffer Gaetan Lesca GeneDx UW-CMG and many not on Twitter incl 1st author Yoeri Sleyp, co-sr Hilde Peeters. 🧬🧠🧬