@pickettslab.bsky.social
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Excited to share our paper with Ghayda Mirzaa describing the novel SMARCA1-related NDD. Out today in Nature Communications.
rdcu.be/ePaDp
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Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition
Nature Communications - The authors identify pathogenic variants in the SMARCA1 gene as the cause of a variable neurodevelopmental disorder. Mouse studies suggest diverse genetic mechanisms related...
https://rdcu.be/ePaDp
4 months ago
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Wishing everyone a Merry Christmas!! May all your grants get funded and all your papers accepted in 2025!!
about 1 year ago
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Had a great visit with a former colleague and great friend. And, as always, she delivered a great talk!!
over 1 year ago
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reposted by
Pierre Mattar
about 2 years ago
New preprint from the lab. This one is (again) about about modelling neurodevelopmental disorders. Here, we focus on the link between chromatin remodellers (ADNP and CHD4) and cortical development.
#NDDs
and
#cortical
development.
www.biorxiv.org/content/10.1...
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