Ayako Sasaki

Monoallelic yet combinatorial expression of variable exons of the protocadherin-α gene cluster in single neurons

Shigeyuki Esumi, Naoki Kakazu, Yusuke Taguchi et al. · Nature Genetics · 2005 · 272 citations

Molecular Neuroscience, Synaptic Transmission, Variable Exons +10

Neonatal hyperbilirubinemia and mutation of the bilirubin uridine diphosphate‐glucuronosyltransferase gene: a common missense mutation among Japanese, Koreans and Chinese

Kazuhiro Akaba, Toshiyuki Kimura, Ayako Sasaki et al. · IUBMB Life · 1998 · 209 citations

Molecular analysis of congenital central hypoventilation syndrome

Ayako Sasaki, Masayo Kanai, Kazuki Kijima et al. · Human Genetics · 2003 · 181 citations

Genetic Disorder, Molecular Analysis, Physiology +2

Neonatal hyperbilirubinemia and a common mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese

Kazuhiro Akaba, Toshiyuki Kimura, Ayako Sasaki et al. · Journal of Human Genetics · 1999 · 97 citations · Full text

Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing

Satoko Miyatake, Eriko Koshimizu, Atsushi Fujita et al. · npj Genomic Medicine · 2022 · 72 citations · Full text

Engineering, Genetics, Diagnosis +26