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Jeremy Schwartzentruber, Stefanie Foskolou, Helena Kilpinen, et al.
Nat Genet. 2017-12-11;50(1):54-61.
Yi-An Ko, Huiguang Yi, Chengxiang Qiu, et al.
AJHG. 2017-06-01;100(6):940-953.
Augustine Kong, Valgerdur Steinthorsdottir, Gisli Masson, et al.
Nature. 2009-12-17;462(7275):868-74.