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Morison, Lottie D; Meffert, Elisabeth; Stampfer, Miriam; Steiner-Wilke, Irene; Vollmer, Brigitte; Schulze, Katrin; Briggs, Tracy; Braden, Ruth; Vogel, Adam; Thompson-Lake, Daisy; Patel, Chirag; Blair, Edward; Goel, Himanshu; Turner, Samantha; Moog, Ute; Riess, Angelika; Liegeois, Frederique; Koolen, David A; Amor, David J; Kleefstra, Tjitske; ... (2023). In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2. Journal of medical genetics, 60(6), pp. 597-607. BMJ Publishing Group 10.1136/jmg-2022-108734
Schossig, Anna; Bloch-Zupan, Agnès; Lussi, Adrian; Wolf, Nicole I; Raskin, Salmo; Cohen, Monika; Giuliano, Fabienne; Jurgens, Julie; Krabichler, Birgit; Koolen, David A; de Macena Sobreira, Nara Lygia; Maurer, Elisabeth; Muller-Bolla, Michèle; Penzien, Johann; Zschocke, Johannes; Kapferer-Seebacher, Ines (2017). SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome. Journal of medical genetics, 54(1), pp. 54-62. BMJ Publishing Group 10.1136/jmedgenet-2016-103988