Publication & Citation Trends
Most Cited Works
Publications
386 total
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder PDF
Cited by 183
OpenAlex
Somatic Mutations in the <scp><i>MTOR</i></scp> gene cause focal cortical dysplasia type <scp>II</scp>b
Cited by 198
OpenAlex
De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood
Cited by 472
OpenAlex
De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy PDF
Cited by 232
OpenAlex
Clinical spectrum of early onset epileptic encephalopathies caused by <scp><i>KCNQ2</i></scp> mutation PDF
Cited by 223
OpenAlex
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
Cited by 520
OpenAlex
Research Topics
Genetics and Neurodevelopmental Disorders
(105)
Genomics and Rare Diseases
(75)
Genomic variations and chromosomal abnormalities
(50)
Epilepsy research and treatment
(49)
Fetal and Pediatric Neurological Disorders
(29)
Frequent Co-Authors
Affiliations
Dokkyo University
Yamagata University
Tokyo Institute of Technology
Showa University
Children's Medical Center