Atsushi Sato

Acute encephalopathy in children with tuberous sclerosis complex

T. Shiihara, M. Kubota, H. Kurahashi, 2021, Orphanet Journal of Rare Diseases.

Comprehensive genetic analysis of overlapping syndromes of RAS/RAF/MEK/ERK pathway

M. Mizuguchi, J. Takita, A. Oka, 2010, Pediatrics international : official journal of the Japan Pediatric Society.

Axenfeld–Rieger anomaly and Axenfeld–Rieger syndrome: Clinical, molecular‐cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25

N. Matsumoto, R. Kosaki, H. Tonoki, 2011, American journal of medical genetics. Part A.

De novo hotspot variants in CYFIP2 cause early‐onset epileptic encephalopathy

D. Lev, N. Matsumoto, M. Shiina, 2018, Annals of neurology.

Interstitial deletion of 13q14.13-q32.3 presenting with Arima syndrome and bilateral retinoblastoma

S. Ogawa, M. Mizuguchi, J. Takita, 2011, Brain and Development.

A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome

Y. Goto, I. Nishino, A. Iida, 2019, Human Genome Variation.

Analysis of All 34 Exons of the SPINK5 Gene in Japanese Atopic Dermatitis Patients.

H. Hattori, K. Tada, K. Iwatsuki, 2018, Acta medica Okayama.

Reply to the letter: “Arima syndrome and bilateral retinoblastoma in interstitial deletion of 13q14.13–q32.3”: Where is the molar tooth sign?

S. Ogawa, M. Mizuguchi, J. Takita, 2011, Brain & development (Tokyo. 1979).

Axenfeld–Rieger anomaly and Axenfeld–Rieger syndrome: Clinical, molecular‐cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25

N. Matsumoto, R. Kosaki, H. Tonoki, 2011, American journal of medical genetics. Part A.