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Christy LaFlamme (she/her) @cwlaflamme.bsky.social · 09/11/2025

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)

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Reposted by Christy LaFlamme (she/her)

Heather Mefford, MD, PhD @hcmefford.bsky.social · 15/10/2025

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)

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Reposted by Christy LaFlamme (she/her)

Christel Depienne @christeldepienne.bsky.social · 05/09/2025

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...

medrxiv.org

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...

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Christy LaFlamme (she/her) @cwlaflamme.bsky.social · 01/08/2025

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

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Reposted by Christy LaFlamme (she/her)

R-Synapse @ruhrsynapse.bsky.social · 26/05/2025

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unpublished study) #eshg2025 @eshg.bsky.social #epilepsy #raredisease

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Christy LaFlamme (she/her) @cwlaflamme.bsky.social · 25/04/2025

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!

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Christy LaFlamme (she/her) @cwlaflamme.bsky.social · 18/12/2024

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!

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Christy LaFlamme (she/her) @cwlaflamme.bsky.social · 18/12/2024

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!

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Christy LaFlamme (she/her) @cwlaflamme.bsky.social · 17/12/2024

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!

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