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A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP. J Hum Genet 61, 395-403 (2016).
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest 125, 636-51 (2015).
Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction. Gastroenterology 148, 771-782.e11 (2015).