Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants by Johnston, JJ, van der Smagt, JJ, Rosenfeld, JA, Pagnamenta, AT, Alswaid, A, Baker, EH, Blair, E, Borck, G, Brinkmann, J, Craigen, W, Dung, VC, Emrick, L, Everman, DB, van Gassen, KL, Gulsuner, S, Harr, MH, Jain, M, Kuechler, A, Leppig, KA, McDonald-McGinn, DM, Can, NTB, Peleg, A, Roeder, ER, Rogers, RC, Sagi-Dain, L, Sapp, JC, Schäffer, AA, Schanze, D, Stewart, H, Taylor, JC, Verbeek, NE, Walkiewicz, MA, Zackai, EH, Zweier, C, Zenker, M, Lee, B, Biesecker, LG

Missense variants in the histone acetyltransferase complex component gene TRRAP cause autism and syndromic intellectual disability by Cogné, B, Ehresmann, S, Beauregard-Lacroix, E, Rousseau, J, Besnard, T, Garcia, T, Petrovski, S, Avni, S, McWalter, K, Blackburn, PR, Sanders, SJ, Uguen, K, Harris, J, Cohen, JS, Blyth, M, Lehman, A, Berg, J, Li, MH, Kini, U, Joss, S, von der Lippe, C, Gordon, CT, Humberson, JB, Robak, L, Scott, DA, Sutton, VR, Skraban, CM, Johnston, JJ, Poduri, A, Nordenskjöld, M, Shashi, V, Gerkes, EH, Bongers, EMHF, Gilissen, C, Zarate, YA, Kvarnung, M, Lally, KP, Kulch, PA, Daniels, B, Hernandez-Garcia, A, Stong, N, McGaughran, J, Retterer, K, Tveten, K, Sullivan, J, Geisheker, MR, Stray-Pedersen, A, Tarpinian, JM, Klee, EW, Nellaker, C, Sapp, JC