Rpsamutations in isolated congenital asplenia (ICA): A ribosomopathy unveiled by Bosch, B, Bolze, A, Boisson, B, Antipenko, A, Itan, Y, Copley, R, Sackstein, P, Kini, U, Pollard, A, Kumararatne, D, Pac, M, Von Bernuth, H, Selleri, L, Puel, A, Picard, C, Mahlaoui, N, Casanova, J

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia. by Bolze, A, Mahlaoui, N, Byun, M, Turner, B, Trede, N, Ellis, SR, Abhyankar, A, Itan, Y, Patin, E, Brebner, S, Sackstein, P, Puel, A, Picard, C, Abel, L, Quintana-Murci, L, Faust, SN, Williams, A, Baretto, R, Duddridge, M, Kini, U, Pollard, A, Gaud, C, Frange, P, Orbach, D, Emile, J

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia by Bolze, A, Mahlaoui, N, Byun, M, Turner, B, Trede, N, Ellis, SR, Abhyankar, A, Itan, Y, Patin, E, Brebner, S, Sackstein, P, Puel, A, Picard, C, Abel, L, Quintana-Murci, L, Faust, SN, Williams, A, Baretto, R, Duddridge, M, Kini, U, Pollard, A, Gaud, C, Frange, P, Orbach, D, Emile, J

Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency by Cottineau, J, Kottemann, M, Lach, F, Kang, Y, Vély, F, Deenick, E, Lazarov, T, Gineau, L, Wang, Y, Farina, A, Chansel, M, Lorenzo, L, Piperoglou, C, Ma, C, Nitschke, P, Belkadi, A, Itan, Y, Boisson, B, Jabot-Hanin, F, Picard, C, Bustamante, J, Eidenschenk, C, Boucherit, S, Aladjidi, N, Lacombe, D, Barat, P, Qasim, W, Hurst, J, Pollard, A, Uhlig, H, Fieschi, C, Michon, J, Bermudez, V, Abel, L, de Villartay, J, Geissmann, F, Tangye, S, Hurwitz, J, Vivier, E, Casanova, J, Smogorzewska, A, Jouanguy, E