Scientist, interested in human genetics, and former co-president of Boston Children’s Hospital now @RegeneronDNA. Ideas and thoughts are mine. He, his.
@helenxhou Cool tool! It might be interesting to test this system with the Gata2 cRE1 dup mice from Engle lab https://t.co/OtYF6pTfOi @ElizabethcEngle@Engle_Lab
Interested in studying neuropsychiatric disorders and/or meningeal lymphatic biology? Please see the notice below for exciting opportunities in the lab! Previous experience with patch clamp physiology and optogenetics is a big plus. Please retweet and share with your network.🙏
Using Genomics to Identify Novel Therapeutic Targets for Aortic Disease
#AortaEd
A very well-composed review with clearcut descriptions of methodological development & conceptual pipeline for #ThoracicAorticDisease
Genetics+
#MachineLearning with Population-level Phenotyped Biobank😎
Perturb-seq
Single-cell omics
Target Prioritization🤓
Also an important update of aorta/#SmoothMuscleCell papers🙌
Avanthi Raghavan @patrick_ellinor@jpirruccello@MarkELindsay@atvbahajournals 2024
https://t.co/Yw8zkLLJwj
🚀 PUBLISHED @NatureGenet
📰 Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis
🧑🤝🧑 Elizabeth C. Engle, Alan P. Tenney, Silvio Alessandro Di Gioia, Bryn D. Webb and team
👇🏼
https://t.co/NAITc1LhyY
and finally a very big thanks to the participating families and their relatives. Without their engagement this would not have been possible. We really hope that one day this discover will bring to a cure for HCFP. @MoebiusSyndrome ,@Solve_RD, @NatureGenet ,@genome_gov