Presentation
Resources & publications
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2017Journal (source)Am. J. Hum. Genet.Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.
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2016Journal (source)Nat. Genet.
MMP21 is mutated in human heterotaxy and is required for normal left-right as...
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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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2023Journal (source)Dev Cell
Identification of Greb1l as a genetic determinant of crisscross heart in mice...
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2023Journal (source)Dev Cell
Identification of Greb1l as a genetic determinant of crisscross heart in mice...
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2018Journal (source)J Allergy Clin Immunol
Epithelial barrier dysfunction in desmoglein-1 deficiency.
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2024Journal (source)J Exp Med
Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus an...