Koyama, S., Sato, H., Wada, M., Kawanami, T., Emi, M., & Kato, T. (2017). Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders. BMC Med Genet.

Koyama, Shingo, Hidenori Sato, Manabu Wada, Toru Kawanami, Mitsuru Emi, and Takeo Kato. "Whole-exome Sequencing and Digital PCR Identified a Novel Compound Heterozygous Mutation in the NPHP1 Gene in a Case of Joubert Syndrome and Related Disorders." BMC Med Genet 2017.

Koyama, Shingo, et al. "Whole-exome Sequencing and Digital PCR Identified a Novel Compound Heterozygous Mutation in the NPHP1 Gene in a Case of Joubert Syndrome and Related Disorders." BMC Med Genet 2017.