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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
Kesim, Yesim; Ceroni, Fabiola; Damián, Alejandra; Blanco-Kelly, Fiona; Ayuso, Carmen; Williamson, Kathy; Paquis-Flucklinger, Véronique; Bax, Dorine A; Plaisancié, Julie; Rieubland, Claudine; Chamlal, Mostafa; Cortón, Marta; Chassaing, Nicolas; Calvas, Patrick; Ragge, Nicola K (2023). Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia. European journal of human genetics, 31(10), pp. 1175-1180. Springer Nature 10.1038/s41431-023-01342-8
Kesim, Yesim; Ceroni, Fabiola; Damián, Alejandra; Blanco-Kelly, Fiona; Ayuso, Carmen; Williamson, Kathy; Paquis-Flucklinger, Véronique; Bax, Dorine A; Plaisancié, Julie; Rieubland, Claudine; Chamlal, Mostafa; Cortón, Marta; Chassaing, Nicolas; Calvas, Patrick; Ragge, Nicola K (2023). Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia. European journal of human genetics, 31(10), pp. 1196-1198. Springer Nature 10.1038/s41431-023-01363-3
