In CSH Molecular Case Studies Melas et al detect a pathogenic somatic CBL variant & a heterozygous likely pathogenic PPP2R1A variant ID'd by clinical ES in peripheral blood from a boy w/profound global delays and growth deficiency Nationwide Children's Hospital #PrecisionMedicine molecularcasestudies.cshlp.org/content/7/6/a0…

Avocado chilling

Big news for our #raredisease patients

Very proud to help lead this effort! nationwidechildrens.org/newsroom/news-…

Really proud of all the hard work Mallery Olsen, our sarcoma fellow, has put in this year! ⁦Phoenix Children's⁩ is getting a great one! #ASPHO2022 ⁦Nationwide Children's Hospital⁩

Fantastic job Joie!

So very grateful for our IGM laboratory genetic counselors and genetic counselor assistants. They are fantastic and tremendously devoted to best in patient care. #NCH #NCHfordocs

On November 18, join us for a Childhood Cancer Data Initiative workshop to advance a national initiative for #RareCancers in children, adolescents, and young adults. events.cancer.gov/nci/ccdi2 #Data4ChildhoodCancer #AYACSM

Come join our amazing team at Nationwide Children's!

IGM Clinical Laboratory Technical Director (#Columbus, Ohio) #job social.icims.com/viewjob/pt1669… Check out our new Technical Director position and join our team! Nationwide Children's Hospital Nationwide Children's Clinical & Research Updates

Excited to share this new publication! Early‐onset hypertension associated with extensive cutaneous capillary malformations harboring postzygotic variants in GNAQ and GNA11 onlinelibrary.wiley.com/doi/10.1111/pd…

Tell Congress that the VALID Act is still too flawed to be passed! The newest version fails to address our concerns and would stifle innovation and access to lab-developed tests which account for the majority of #genetictests. Send your letter TODAY! p2a.co/zjTZKkv

Proud to contribute to this work! Nationwide Children's Clinical & Research Updates Test Account

Congrats to susan klugman! Great to work with Susan on the Advocacy and Government Affair committee!

Really terriffic group highlighting some amazing science. #ACMGMtg23 #acmg2023 #nationwidekids

Exploring Current Challenges in the Technologist Workforce of Clinical... sciencedirect.com/science/articl… #cytogenetics #genomics #educacion Data to address the workforce shortage in clinical genomic laboratories

“What will make us leaders in this field is by doing what others are not doing or what others dream of doing.” Get an inside look at The Fetal Center with fetal surgeon and surgeon-in-chief, Dr. Oluyinka Olutoye.

I am very excited for the speaker line-up at the upcoming AGBT Precision Health meeting. We would love to see your work represented. Abstracts are due today (6-29-2023)!

This is looking to be a fantastic meeting in September at AGBT Precision Health!

Yassmine Akkari, PhD Catherine Cottrell Jesse Hunter Association for Molecular Pathology ClinGen Nationwide Children's Clinical & Research Updates OhioStatePath The Ohio State University College of Medicine