Presentation
Resources & publications
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2020Journal (source)Nat CommunADAR1 mediated regulation of neural crest derived melanocytes and Schwann cel...
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2021Journal (source)Med (N Y)
A monocyte/dendritic cell molecular signature of SARS-CoV-2-related multisyst...
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2020Journal (source)Genet Med
Phenotypic spectrum and transcriptomic profile associated with germline varia...
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2023Journal (source)Kidney Int
A wave of deep intronic mutations in X-linked Alport syndrome.
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2023Journal (source)Front Mol Biosci
Fluid shear stress triggers cholesterol biosynthesis and uptake in inner medu...
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2023Journal (source)Leukemia
Exploring the genetic landscape of HCV-related B-cell lymphomas using whole e...
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2025Journal (source)Lancet Neurol
Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.