De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder
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Author
Kúry, Sébastien
Besnard, Thomas
Ebstein, Frédéric
Khan, Tahir N.
Gambin, Tomasz
Douglas, Jessica
Bacino, Carlos A.
Craigen, William J.
Sanders, Stephan J.
Lehmann, Andrea
Latypova, Xénia
Khan, Kamal
Pacault, Mathilde
Sacharow, Stephanie
Glaser, Kimberly
Bieth, Eric
Perrin-Sabourin, Laurence
Jacquemont, Marie-Line
Cho, Megan T.
Roeder, Elizabeth
Denommé-Pichon, Anne-Sophie
Monaghan, Kristin G.
Yuan, Bo
Xia, Fan
Sylvain, Simon
Bonneau, Dominique
Parent, Philippe
Gilbert-Dussardier, Brigitte
Odent, Sylvie
Toutain, Annick
Pasquier, Laurent
Barbouth, Deborah
Shaw, Chad A.
Patel, Ankita
Smith, Janice L.
Bi, Weimin
Schmitt, Sébastien
Deb, Wallid
Nizon, Mathilde
Mercier, Sandra
Vincent, Marie
Rooryck, Caroline
Malan, Valérrie
Briceño, Ignacio
Gómez, Alberto
Nugent, Kimberly M.
Gibson, James B.
Cogné, Benjamin
Lupski, James R.
Stessman, Holly A. F.
Eichler, Evan E.
Retterer, Kyle
Yang, Yaping
Redon, Richard
Katsanis, Nicholas
Rosenfeld, Jill A.
Kloetzel, Peter-Michael
Golzio, Christelle
Bézieau, Stéphane
Stankiewicz, Pawe
Isidor, Bertrand