Yumi Enomoto

Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly

Yota Sato, Jun Shibasaki, Noriko Aida et al. · Human Genome Variation · 2018 · 51 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Update of the genotype and phenotype of<scp><i>KMT2D</i></scp>and<scp><i>KDM6A</i></scp>by genetic screening of 100 patients with clinically suspected Kabuki syndrome

Hiroaki Murakami, Yoshinori Tsurusaki, Keisuke Enomoto et al. · American Journal of Medical Genetics Part A · 2020 · 37 citations

Life Sciences, Genetics, Molecular Genetics +13

A postzygotic <i>NRAS</i> mutation in a patient with Schimmelpenning syndrome

Yukiko Kuroda, Ikuko Ohashi, Yumi Enomoto et al. · American Journal of Medical Genetics Part A · 2015 · 34 citations

Life Sciences, Neuroscience, Pediatrics +13

Refining the clinical phenotype of Okur–Chung neurodevelopmental syndrome

Moe Akahira‐Azuma, Yoshinori Tsurusaki, Yumi Enomoto et al. · Human Genome Variation · 2018 · 31 citations · Full text

Medicine, Genetics, Molecular Genetics +17

A novel UBE2A mutation causes X-linked intellectual disability type Nascimento

Yoshinori Tsurusaki, Ikuko Ohashi, Yumi Enomoto et al. · Human Genome Variation · 2017 · 30 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17