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Ercan, Ayse Bahar; Aronson, Melyssa; Fernandez, Nicholas R; Chang, Yuan; Levine, Adrian; Liu, Zhihui Amy; Negm, Logine; Edwards, Melissa; Bianchi, Vanessa; Stengs, Lucie; Chung, Jiil; Al-Battashi, Abeer; Reschke, Agnes; Lion, Alex; Ahmad, Alia; Lassaletta, Alvaro; Reddy, Alyssa T; Al-Darraji, Amir F; Shah, Amish C; Van Damme, An; ... (2024). Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study. The Lancet. Oncology, 25(5), pp. 668-682. Elsevier 10.1016/S1470-2045(24)00026-3
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
