Yumi Enomoto

Publication Activity (10 Years)

Years Active: 2017-2022
Publications (10 Years): 9

Top Topics

Autism Spectrum Disorder

Extracorporeal Membrane Oxygenation

Intellectual Disability

Top Venues

Congenital anomalies

Clinical genetics

American journal of medical genetics. Part A

Human genome variation

This page only lists publications with an associated author ORCID identifier.

Publications

Yumi Enomoto, Takayuki Yokoi, Yoshinori Tsurusaki, Hiroaki Murakami, Makiko Tominaga, Mari Minatogawa, Chihiro Abe-Hatano, Yukiko Kuroda, Ikuko Ohashi, Kazumi Ida, Shizuka Shiiya, Tatsuro Kumaki, Takuya Naruto, Jun Mitsui, Noriaki Harada, Yasuhiro Kido, Kenji Kurosawa
Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing. Clinical genetics 101 (3) (2022)
Takayuki Yokoi, Yumi Enomoto, Yoshinori Tsurusaki, Kenji Kurosawa
Siblings with vascular Ehlers-Danlos syndrome inherited via maternal mosaicism. Congenital anomalies 61 (3) (2021)
Hiroaki Murakami, Yoshinori Tsurusaki, Keisuke Enomoto, Yukiko Kuroda, Takayuki Yokoi, Noritaka Furuya, Hiroshi Yoshihashi, Mari Minatogawa, Chihiro Abe-Hatano, Ikuko Ohashi, Naoto Nishimura, Tatsuro Kumaki, Yumi Enomoto, Takuya Naruto, Fuminori Iwasaki, Noriaki Harada, Aki Ishikawa, Hiroshi Kawame, Kiyoko Sameshima, Yu Yamaguchi, Masahisa Kobayashi, Makiko Tominaga, Satoshi Ishikiriyama, Toshiaki Tanaka, Hiroshi Suzumura, Shinsuke Ninomiya, Akane Kondo, Tadashi Kaname, Kenjiro Kosaki, Mitsuo Masuno, Yoshikazu Kuroki, Kenji Kurosawa
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome. American journal of medical genetics. Part A 182 (10) (2020)
Yukiko Kuroda, Hiroaki Murakami, Yumi Enomoto, Yoshinori Tsurusaki, Kazumi Takahashi, Kanako Mitsuzuka, Hitoshi Ishimoto, Gen Nishimura, Kenji Kurosawa
A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia. Clinical genetics 95 (6) (2019)
Hiroaki Murakami, Yumi Enomoto, Yoshinori Tsurusaki, Yoshitsugu Sugio, Kenji Kurosawa
A female patient with X-linked Ohdo syndrome of the Maat-Kievit-Brunner phenotype caused by a novel variant of MED12. Congenital anomalies 60 (3) (2019)
Yuichi Kimura, Moe Akahira-Azuma, Noriaki Harada, Yumi Enomoto, Yoshinori Tsurusaki, Kenji Kurosawa
Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms. Congenital anomalies 58 (6) (2018)
Yukiko Kuroda, Ikuko Ohashi, Takuya Naruto, Kazumi Ida, Yumi Enomoto, Toshiyuki Saito, Jun-Ichi Nagai, Kenji Kurosawa
Evaluation of a patient with classical Ehlers-Danlos syndrome due to a 9q34 duplication affecting COL5A1. Congenital anomalies 58 (6) (2018)
Yota Sato, Jun Shibasaki, Noriko Aida, Kazuya Hiiragi, Yuichi Kimura, Moe Akahira-Azuma, Yumi Enomoto, Yoshinori Tsurusaki, Kenji Kurosawa
Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly. Human genome variation 5 (2018)
Yumi Enomoto, Yoshinori Tsurusaki, Noriaki Harada, Noriko Aida, Kenji Kurosawa
Novel AMER1 frameshift mutation in a girl with osteopathia striata with cranial sclerosis. Congenital anomalies 58 (4) (2017)