 | Up a level |
Karayol, Remzi; Borroto, Maria Carla; Haghshenas, Sadegheh; Namasivayam, Anoja; Reilly, Jack; Levy, Michael A; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Shvedunova, Maria; Petersen, Andrea K; Magnussen, Kari; Zweier, Christiane; Vasileiou, Georgia; Reis, André; Savatt, Juliann M; Mulligan, Meghan R; Bicknell, Louise S; Poke, Gemma; Abu-El-Haija, Aya; ... (2024). MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature. American journal of human genetics, 111(7), pp. 1330-1351. Cell Press 10.1016/j.ajhg.2024.05.001
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
