Mamiko Yamada

Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing

Mamiko Yamada, Hironobu Okuno, Nobuhiko Okamoto et al. · European Journal of Medical Genetics · 2022 · 36 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations

Hisato Suzuki, Masatoshi Nozaki, Hiroshi Yoshihashi et al. · The Journal of Pediatrics · 2022 · 29 citations · Full text

Medicine, Genetics, Pediatrics +17

PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing

Ryo Kurosawa, Kei Iida, Masahiko Ajiro et al. · BMC Genomics · 2023 · 23 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidences

Mamiko Yamada, Yohei Nitta, Tomoko Uehara et al. · European Journal of Medical Genetics · 2023 · 22 citations

Life Sciences, Genetics, Molecular Genetics +14

Biallelic loss of <i>OTUD7A</i> causes severe muscular hypotonia, intellectual disability, and seizures

Hisato Suzuki, Mie Inaba, Mamiko Yamada et al. · American Journal of Medical Genetics Part A · 2020 · 21 citations

Life Sciences, Genetics, Molecular Genetics +17