Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy by O'Donnell-Luria, A, Pais, L, Faundes, V, Lu, X, Taylor, J, Zak, J, al., E

Genetic characterization of neurodevelopmental disorders in African populations: the NeuroDev Trio Pilot by Kipkemoi, P, Christ, B, O'Heir, E, Allen, J, van der Merwe, C, O'Donnell Luria, A, Newton, C, Abubakar, A, Donald, K, Robinson, E

The NeuroDev project: phenotypic and genetic characterization of neurodevelopmental disorders in Kenya and South Africa by Kim, HA, Kipkemoi, P, O'Heir, E, Eastman, E, Christ, B, Melly, B, van der Merwe, C, Newton, C, O'Donnell-Luria, A, Abubakar, A, Donald, KA, Robinson, E

Phenotype and genetic analysis of data collected within the first year of NeuroDev by Kipkemoi, P, Kim, HA, Christ, B, O'Heir, E, Allen, J, Austin-Tse, C, Baxter, S, Brand, H, Bryant, S, Buser, N, de Menil, V, Eastman, E, Murugasen, S, Galvin, A, Kombe, M, Ngombo, A, Mkubwa, B, Mwangi, P, Kipkoech, C, Lovgren, A, MacArthur, DG, Melly, B, Mwangasha, K, Martin, A, Nkambule, LL, Sanchis-Juan, A, Singer-Berk, M, Talkowski, ME, VanNoy, G, van der Merwe, C, Newton, C, O'Donnell-Luria, A, Abubakar, A, Donald, KA, Robinson, EB

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome by Tessadori, F, Duran, K, Knapp, K, Fellner, M, Smithson, S, Beleza Meireles, A, Elting, MW, Waisfisz, Q, O'Donnell-Luria, A, Nowak, C, Douglas, J, Ronan, A, Brunet, T, Kotzaeridou, U, Svihovec, S, Saenz, MS, Thiffault, I, Del Viso, F, Devine, P, Rego, S, Tenney, J, van Haeringen, A, Ruivenkamp, CAL, Koene, S, Robertson, SP, Deshpande, C, Pfundt, R, Verbeek, N, van de Kamp, JM, Weiss, JMM, Ruiz, A, Gabau, E, Banne, E, Pepler, A, Bottani, A, Laurent, S, Guipponi, M, Bijlsma, E, Bruel, A-L, Sorlin, A, Willis, M, Powis, Z, Smol, T, Vincent-Delorme, C, Baralle, D, Colin, E, Revencu, N, Calpena, E, Wilkie, AOM

Analysis of protein-coding genetic variation in 60,706 humans. by Lek, M, Karczewski, K, Minikel, E, Samocha, K, Banks, E, Fennell, T, O'Donnell-Luria, A, Ware, J, Hill, A, Cummings, B, Tukiainen, T, Birnbaum, D, Kosmicki, J, Duncan, L, Estrada, K, Zhao, F, Zou, J, Pierce-Hoffman, E, Berghout, J, Cooper, D, Deflaux, N, DePristo, M, Do, R, Flannick, J, Fromer, M, Gauthier, L, Goldstein, J, Gupta, N, Howrigan, D, Kiezun, A, Kurki, M, Moonshine, A, Natarajan, P, Orozco, L, Peloso, G, Poplin, R, Rivas, M, Ruano-Rubio, V, Rose, S, Ruderfer, D, Shakir, K, Stenson, P, Stevens, C, Thomas, B, Tiao, G, Tusie-Luna, M, Weisburd, B, Won, H, Yu, D, Altshuler, D, Ardissino, D, Boehnke, M, Danesh, J, Donnelly, S, Elosua, R, Florez, J, Gabriel, S, Getz, G, Glatt, S, Hultman, C, Kathiresan, S, Laakso, M, McCarroll, S, McCarthy, M, McGovern, D, McPherson, R, Neale, B, Palotie, A, Purcell, S, Saleheen, D, Scharf, J, Sklar, P, Sullivan, P, Tuomilehto, J, Tsuang, M, Watkins, H, Wilson, J, Daly, M, MacArthur, D