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de Masfrand, Servane; Cogné, Benjamin; Nizon, Mathilde; Deb, Wallid; Goldenberg, Alice; Lecoquierre, François; Nicolas, Gaël; Bournez, Marie; Vitobello, Antonio; Mau-Them, Frédéric Tran; le Guyader, Gwenaël; Bilan, Frédéric; Bauer, Peter; Zweier, Christiane; Piard, Juliette; Pasquier, Laurent; Bézieau, Stéphane; Gerard, Bénédicte; Faivre, Laurence; Saugier-Veber, Pascale; ... (2024). Penetrance, variable expressivity and monogenic neurodevelopmental disorders. European journal of medical genetics, 69, p. 104932. Elsevier 10.1016/j.ejmg.2024.104932
Barc, Julien; Tadros, Rafik; Glinge, Charlotte; Chiang, David Y.; Jouni, Mariam; Simonet, Floriane; Jurgens, Sean J.; Baudic, Manon; Nicastro, Michele; Potet, Franck; Offerhaus, Joost A.; Walsh, Roddy; Choi, Seung Hoan; Verkerk, Arie O.; Mizusawa, Yuka; Anys, Soraya; Minois, Damien; Arnaud, Marine; Duchateau, Josselin; Wijeyeratne, Yanushi D.; ... (2022). Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility. Nature genetics, 54(3), pp. 232-239. Springer Nature 10.1038/s41588-021-01007-6
Walsh, Roddy; Lahrouchi, Najim; Tadros, Rafik; Kyndt, Florence; Glinge, Charlotte; Postema, Pieter G; Amin, Ahmad S; Nannenberg, Eline A; Ware, James S; Whiffin, Nicola; Mazzarotto, Francesco; Škorić-Milosavljević, Doris; Krijger, Christian; Arbelo, Elena; Babuty, Dominique; Barajas-Martinez, Hector; Beckmann, Britt M; Bézieau, Stéphane; Bos, J Martijn; Breckpot, Jeroen; ... (2021). Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls. Genetics in medicine, 23(1), pp. 47-58. Springer Nature 10.1038/s41436-020-00946-5
