Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
A Siekierska, H Stamberger, T Deconinck, . Oprescu, M Partoens, Y Zhang, J Sourbron, E Adriaenssens, P Mullen, P Wiencek, K Hardies, JS Lee, HK Giong, F Distelmaier, O Elpeleg, I Helbig, J Hersh, S Isikay, E Jordan, E Karaca, A Kecskes, . Lupski, R Kovacs-Nagy, P May, V Narayanan, M Pendziwiat, K Ramsey, S Rangasamy, DN Shinde, R Spiegel, V Timmerman, S von Spiczak, C Balak, N Belnap, A Claasen, A Courtright, M de Both, MJ Huentelman, M Naymik, R Richholt, AL Siniard, S Szelinger, DW Craig, I Schrauwen, Z Afawi, R Balling, S Baulac, N Barišić, HS Caglayan, D Craiu, R Guerrero-López, R Guerrini, H Hjalgrim, J Jähn, KM Klein, E Leguern, . Lemke, H Lerche, C Marini, RS Møller, H Muhle, F Rosenow, J Serratosa, A Suls, U Stephani, K Štěrbová, P Striano, F Zara, S Weckhuysen, C Francklyn, Anthony Antonellis, P de Witte, P De Jonghe
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy
C Gonzaga-Jauregui, T Harel, T Gambin, M Kousi, LB Griffin, L Francescatto, B Ozes, E Karaca, . Jhangiani, MN Bainbridge, KS Lawson, D Pehlivan, Y Okamoto, M Withers, P Mancias, A Slavotinek, PJ Reitnauer, MT Goksungur, M Shy, TO Crawford, M Koenig, J Willer, BN Flores, I Pediaditrakis, O Us, W Wiszniewski, Y Parman, Anthony Antonellis, DM Muzny, N Katsanis, E Battaloglu, E Boerwinkle, RA Gibbs, . Lupski
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