Academic Research on Milo and congenital KDM1A (LSD1) variants

Tunovic, Sanjin, James Barkovich, Elliott H. Sherr, and Anne M. Slavotinek. “De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome.” American Journal of Medical Genetics Part A 164, no. 7 (2014): 1744-1749.

Chong, Jessica X., Joon-Ho Yu, Peter Lorentzen, Karen M. Park, Seema M. Jamal, Holly K. Tabor, Anita Rauch et al. “Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features.” Genetics in Medicine 18, no. 8 (2015): 788-795.

Pilotto, Simona, Valentina Speranzini, Chiara Marabelli, Francesco Rusconi, Emanuela Toffolo, Barbara Grillo, Elena Battaglioli, and Andrea Mattevi. “LSD1/KDM1A mutations associated to a newly described form of intellectual disability impair demethylase activity and binding to transcription factors.” Human molecular genetics 25, no. 12 (2016): 2578-2587.