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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2013Journal (source)J. Med. Genet.
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.
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2020Journal (source)Science
Auto-antibodies against type I IFNs in patients with life-threatening COVID-19.
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2020Journal (source)Science
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.
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2021Journal (source)Med (N Y)
A monocyte/dendritic cell molecular signature of SARS-CoV-2-related multisyst...