Scalable generation and functional classification of genetic variants in inborn errors of immunity to accelerate clinical diagnosis and treatment

Walsh, Z. H., Frangieh, C. J., Kothapalli, N., Levy, J., Heck, C. K., Melms, J. C., Gejman, R. S., Shah, P., Pollard, J. M., Naik, A., Grauman, S. L., Huang, L. H., Lee, A., Bogunovic, D., Milner, J. D., & Izar, B. (2025). Scalable generation and functional classification of genetic variants in inborn errors of immunity to accelerate clinical diagnosis and treatment. Cell. https://doi.org/10.1016/j.cell.2025.05.037
Authors:
Zachary H Walsh
Chris J Frangieh
Neeharika Kothapalli
Jay Levy
Clarissa K Heck
Johannes C Melms
Ron S Gejman
Parin Shah
Jared M Pollard
Akul Naik
Sarah L Grauman
Lei Haley Huang
Ashley Lee
Dusan Bogunovic
Joshua D Milner
Benjamin Izar
Affiliated Authors:
Zachary H Walsh
Chris J Frangieh
Neeharika Kothapalli
Jay Levy
Clarissa K Heck
Johannes C Melms
Ron S Gejman
Parin Shah
Jared M Pollard
Akul Naik
Sarah L Grauman
Lei Haley Huang
Ashley Lee
Dusan Bogunovic
Joshua D Milner
Benjamin Izar
Author Keywords:
apds
crispr base editing
vus
activated pi3k delta syndrome
clinical ngs
genome engineering
inborn errors of immunity
precision medicine
primary t cells
variant classification
Publication Type:
Article
Unique ID:
10.1016/j.cell.2025.05.037
PMID:
Journal:
Publication Date:
Data Source:
PubMed

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