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Gracia-Diaz, Carolina; Zhou, Yijing; Yang, Qian; Maroofian, Reza; Espana-Bonilla, Paula; Lee, Chul-Hwan; Zhang, Shuo; Padilla, Natàlia; Fueyo, Raquel; Waxman, Elisa A; Lei, Sunyimeng; Otrimski, Garrett; Li, Dong; Sheppard, Sarah E; Mark, Paul; Harr, Margaret H; Hakonarson, Hakon; Rodan, Lance; Jackson, Adam; Vasudevan, Pradeep; ... (2023). Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders. Nature Communications, 14(1), p. 4109. Springer Nature 10.1038/s41467-023-39645-5
Suter, Aude-Annick; Itin, Peter; Heinimann, Karl; Ahmed, Munaza; Ashraf, Tazeen; Fryssira, Helen; Kini, Usha; Lapunzina, Pablo; Miny, Peter; Sommerlund, Mette; Suri, Mohnish; Vaeth, Signe; Vasudevan, Pradeep; Gallati, Sabina (2016). Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene. Molecular genetics & genomic medicine, 4(3), pp. 359-366. Wiley 10.1002/mgg3.209
