Presentation
Scientific Publications
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2021Journal (source)Sci ImmunolAutoantibodies neutralizing type I IFNs are present in ~4% of uninfected indi...
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2021Journal (source)Sci Immunol
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life...
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2021Journal (source)J Clin Invest
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with g...
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2020Journal (source)Am. J. Hum. Genet.
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmenta...
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2019Journal (source)Hum. Mol. Genet.
PAICS deficiency, a new defect of de novo purine synthesis resulting in multi...
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Journal (source)Proc. Natl. Acad. Sci. U.S.A.
Epistasis between RET and BBS mutations modulates enteric innervation and cau...
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2009Journal (source)Nat. Genet.
Highly conserved non-coding elements on either side of SOX9 associated with P...