Yo Niida, Yusuke Mitani, Mondo Kuroda, Ayano Yokoi, Hiroyasu Nakagawa, Akiko Kato. A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome. Congenital anomalies. 2017. 57. 3. 86-88
Yo Niida, Ayano Yokoi, Mondo Kuroda, Yusuke Mitani, Hiroyasu Nakagawa, Mamoru Ozaki. Reply to: Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1. Brain & development. 2017. 39. 2. 184-185