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Select item 72914121.

Human genetic dissection of papillomavirus-driven diseases: New insight into their pathogenesis

Vivien Béziat

Hum Genet. Author manuscript; available in PMC 2021 Jun 1.

Published in final edited form as: Hum Genet. 2020 Jun; 139(6-7): 919–939. Published online 2020 May 20. doi: 10.1007/s00439-020-02183-x

PMCID:: PMC7291412

Abstract Article PDF–481K

Select item 67546182.

Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis

Scott B. Drutman, Filomeen Haerynck, Franklin L. Zhong, David Hum, Nicholas J. Hernandez, Serkan Belkaya, Franck Rapaport, Sarah Jill de Jong, David Creytens, Simon J. Tavernier, Katrien Bonte, Sofie De Schepper, Jutte van der Werff ten Bosch, Lazaro Lorenzo-Diaz, Andy Wullaert, Xavier Bossuyt, Gérard Orth, Vincent R. Bonagura, Vivien Béziat, Laurent Abel, Emmanuelle Jouanguy, Bruno Reversade, Jean Laurent-Casanova

Proc Natl Acad Sci U S A. 2019 Sep 17; 116(38): 19055–19063. Published online 2019 Sep 4. doi: 10.1073/pnas.1906184116