Our manuscript from the @hcmefford.bsky.social lab describing a novel CCG repeat expansion on chrX in BCLAF3 in neurodevelopmental disorders is now live at Genome Medicine! 🧠 🧬 See here to give it a read: link.springer.com/article/10.1...

Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders - Genome Medicine

Background Tandem repeat expansions have been implicated in various neurological conditions. Here, we present a novel hypermethylated CCG repeat expansion on Xp22 in the 5’UTR of BCLAF3 in males with ...

link.springer.com

What a day! So full of science, great discussions, and a lot of love and support from a fantastic team, colleagues, and friends I’ve made over the past 5.5 years at St. Jude (4.5 in the Mefford lab). Thank you to everyone for everything! (Esp the best mentor ever @hcmefford.bsky.social)

Heather Mefford, MD, PhD@hcmefford.bsky.social · 9mo ago

HUGE congrats to Dr. Christy LaFlamme @cwlaflamme.bsky.social, who successfully defended her thesis on Friday! What an enjoyable 4.5 years it has been. I couldn't be more proud as a mentor, and can't wait for future collaborations! Keep an eye out for this future leader in human genomics! 🧬 💜 🧬

Oops - WED poster correction 🧬🧠🧬 WEDNESDAY 10/15 4027W Genome seq in unsolved epilepsy @sohamsg90.bsky.social **8062W** a new repeat expansion locus as a potential cause for epilepsy @cwlaflamme.bsky.social (presented by Dianne Laboy)

After our study on RNU4-2 and RNU5B-1 published in May (Nava et al, Nature Genetics 2025), I am excited to share our new preprint reporting dominant and recessive variants in RNU2-2 as a frequent cause of developmental and epileptic encephalopathy (DEE). 📄 www.medrxiv.org/content/10.1...

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

Variants in spliceosomal small nuclear RNA (snRNA) genes RNU4-2 (ReNU syndrome), RNU5B-1 , and RNU2-2 have recently been linked to dominant neurodevelopmental disorders (NDDs), revealing a major, prev...

medrxiv.org

Such a wonderful experience at this year’s Leena Peltonen School for Human Genomics @ Wellcome Genome, UK. Thank you to the organizers for putting this together! Caught up with old friends and made so many new friends. Feeling immensely uplifted for the future of human genetics research! #lpshg2025

Repeat expansion detected by @cwlaflamme.bsky.social through methylation, long-read and population data. (@hcmefford.bsky.social lab research, gene name hidden ->unpublished study) #eshg2025 @eshg.bsky.social #epilepsy #raredisease

Super fun departmental retreat for the St. Jude Cell & Molecular Biology Department this week in Arkansas. We got to talk about science all day, hike to a waterfall, and continue our debate in the lab over the rules of Uno. Excited to have received the People’s Choice poster award for day #2!

And this is a huge win after my F31 application went from discussed to not discussed after resubmission. I want to highlight the “no’s” that lead up to this “yes” as well!

Christy LaFlamme (she/her)@cwlaflamme.bsky.social · 2y ago

Excited to announce that my F99/K00 fellowship entitled, “A multi-omics approach to understanding pediatric epilepsies,” was officially funded today! And a huge thank you to @hcmefford.bsky.social for being the greatest mentor ever and always supporting me in these endeavors 🧬🧠 Cheers!

Excited to announce that my F99/K00 fellowship entitled, “A multi-omics approach to understanding pediatric epilepsies,” was officially funded today! And a huge thank you to @hcmefford.bsky.social for being the greatest mentor ever and always supporting me in these endeavors 🧬🧠 Cheers!

I want to extend a huge thank you to the @nickywhiffin.bsky.social lab for having me this past month to work on various projects using the @GenomicsEngland data. I learned a ton during my time @ox.ac.uk and continue to drink tea at least 3 times per day. Cheers!