Yumi Enomoto
9PUBLICATIONS
10CO-AUTHORS
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Publications (9)
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|Dec 27, 2021
Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.Yumi Enomoto, Takayuki Yokoi, Yoshinori Tsurusaki
|Aug 18, 2020
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.Hiroaki Murakami, Yoshinori Tsurusaki, Keisuke Enomoto
|Mar 09, 2019
A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia.Yukiko Kuroda, Hiroaki Murakami, Yumi Enomoto
|May 16, 2018
Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly.Yota Sato, Jun Shibasaki, Noriko Aida
|Mar 10, 2018
Evaluation of a patient with classical Ehlers-Danlos syndrome due to a 9q34 duplication affecting COL5A1.Yukiko Kuroda, Ikuko Ohashi, Takuya Naruto
|Jan 31, 2018
Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms.Yuichi Kimura, Moe Akahira-Azuma, Noriaki Harada
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Frequent Collaborators
6 joint publications
Kenji Kurosawa
4 joint publications
Yoshinori Tsurusaki
3 joint publications
Yukiko Kuroda
2 joint publications
Yuichi Kimura
2 joint publications
Moe Akahira-Azuma
2 joint publications
Hiroaki Murakami
2 joint publications
Takayuki Yokoi
1 joint publications
Mari Minatogawa
1 joint publications
Tadashi Kaname
1 joint publications
Takuya Naruto
