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Schalk, Audrey; Cousin, Margot A; Dsouza, Nikita R; Challman, Thomas D; Wain, Karen E; Powis, Zoe; Minks, Kelly; Trimouille, Aurélien; Lasseaux, Eulalie; Lacombe, Didier; Angelini, Chloé; Michaud, Vincent; Van-Gils, Julien; Spataro, Nino; Ruiz, Anna; Gabau, Elizabeth; Stolerman, Elliot; Washington, Camerun; Louie, Ray; Lanpher, Brendan C; ... (2021). De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability. Journal of medical genetics, 59(10), pp. 965-975. BMJ Publishing Group 10.1136/jmedgenet-2021-107751
Ranza, Emmanuelle; Z'Graggen, Werner; Lidgren, Mathias; Beghetti, Maurice; Guipponi, Michel; Antonarakis, Stylianos E; Absoud, Michael; Goyal, Sushma; Pal, Deb K; Korff, Christian M (2020). SCN8A heterozygous variants are associated with anoxic-epileptic seizures. American journal of medical genetics. Part A, 182(5), pp. 1209-1216. Wiley 10.1002/ajmg.a.61513
Bousquet, Jean; Anto, Josep M; Sterk, Peter J; Adcock, Ian M; Chung, Kian Fan; Roca, Josep; Agusti, Alvar; Brightling, Chris; Cambon-Thomsen, Anne; Cesario, Alfredo; Abdelhak, Sonia; Antonarakis, Stylianos E; Avignon, Antoine; Ballabio, Andrea; Baraldi, Eugenio; Baranov, Alexander; Bieber, Thomas; Bockaert, Joël; Brahmachari, Samir; Brambilla, Christian; ... (2011). Systems medicine and integrated care to combat chronic noncommunicable diseases. Genome medicine, 3(7), p. 43. London: BioMed Central 10.1186/gm259
Mefford, Heather C; Sharp, Andrew J; Baker, Carl; Itsara, Andy; Jiang, Zhaoshi; Buysse, Karen; Huang, Shuwen; Maloney, Viv K; Crolla, John A; Baralle, Diana; Collins, Amanda; Mercer, Catherine; Norga, Koen; de Ravel, Thomy; Devriendt, Koen; Bongers, Ernie M H F; de Leeuw, Nicole; Reardon, William; Gimelli, Stefania; Bena, Frederique; ... (2008). Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. New England journal of medicine NEJM, 359(16), pp. 1685-99. Waltham, Mass.: Massachusetts Medical Society MMS 10.1056/NEJMoa0805384
Conrad, Bernard; Antonarakis, Stylianos E (2007). Gene duplication: a drive for phenotypic diversity and cause of human disease. Annual review of genomics and human genetics, 8, pp. 17-35. Palo Alto, Calif.: Annual Reviews Inc. 10.1146/annurev.genom.8.021307.110233
Bottani, Armand; Chelly, Jamel; de Brouwer, Arjan P M; Pardo, Bruno; Barker, Mandy; Capra, Valeria; Bartoloni, Lucia; Antonarakis, Stylianos E; Conrad, Bernard (2007). Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation. American journal of medical genetics. Part A, 143A(8), pp. 888-90. Hoboken, N.J.: Wiley-Liss 10.1002/ajmg.a.31651
