Presentation
Scientific Publications
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2026
ADAR1 loss-of-function variants altering RNA editing define a new interferon-..., Rockefeller University Press
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2026
Ribosomal RNA processing impairments in a B cell immunodeficient patient with..., Rockefeller University Press
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2026
Pharmacological stabilization of hypoxia-inducible factor 1-α dampens the int..., Springer Science and Business Media LLC
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2024
Congenital microcoria deletion in mouse links Sox21 dysregulation to disease ..., Am J Hum Genet
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2021
Bi-allelic variants in IPO8 cause a connective tissue disorder associated wit..., Am J Hum Genet
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2020
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmenta..., Am J Hum Genet
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2019
PAICS deficiency, a new defect of de novo purine synthesis resulting in multi..., Hum Mol Genet
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2010
Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a conseq..., J Clin Invest