Research theme for competitive and other funds (4):
2017 - 2020 Genetic and Clinical analyses in patients with sitosterolemia
2013 - 2016 trio whole exome sequencing in patients with combined pituitary hormone deficiency
2009 - 2011 Elucidation of the pathogenic mechanism for the hypogonadotropic hypogonadism and the development of the standard mutation analyses system in congenital hypogonadotropic hypogonadism.
2009 - 2010 Molecular and functional analyses of OTX2 in patients with congenital pituitary hormone deficiency
Papers (74):
Tatsuki Urakawa, Shinichiro Sano, Sayaka Kawashima, Akie Nakamura, Hirohito Shima, Motoki Ohta, Yuki Yamada, Ai Nishida, Hiromune Narusawa, Yoshiaki Ohtsu, et al. (Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B. European journal of endocrinology. 2023