Enomoto Yumi

エノモトユミ | Enomoto Yumi

Affiliation and department：
Job title： Researcher

Research field (3)： Fetal medicine/Pediatrics , Molecular biology , Genomics

Research keywords (5)：先天異常 , 分子生物学 , ゲノム解析 , 次世代シーケンサー解析 , バイオインフォマティクス

Research theme for competitive and other funds (3)：

2022 - 2025 Structural variant analysis in patients with congenital anomalies using whole-genome mapping
2018 - 2022 Diagnostic challenge using new methods in exome-negative patients
2014 - 2017 Genetic and genomic analysis on the patients with multiple congenital anomalies

Papers (61)：

Yoko Saito, Dai Keino, Yukiko Kuroda, Yumi Enomoto, Takuya Naruto, Yukichi Tanaka, Mio Tanaka, Hidehito Usui, Norihiko Kitagawa, Masakatsu Yanagimachi, et al. Two-hit mutation causes Wilms tumor in an individual with FBXW7-related neurodevelopmental syndrome. Journal of human genetics. 2024
Yukiko Kuroda, Takeshi Uehara, Yumi Enomoto, Takuya Naruto, Nozomi Matsumura, Kenji Kurosawa. GPC4 truncating variant associated with Keipert syndrome and lacrimal punctal agenesis. American journal of medical genetics. Part A. 2024. e63799
Yasuhiro Hirano, Yukiko Kuroda, Yumi Enomoto, Takuya Naruto, Koji Muroya, Kenji Kurosawa. Noonan syndrome-like phenotype associated with an ERF frameshift variant. American journal of medical genetics. Part A. 2024. e63652
Yukiko Kuroda, Yoko Saito, Yumi Enomoto, Takuya Naruto, Kenji Kurosawa. A novel ACTB variant in an atypical case of Baraitser-Winter syndrome with cerebellar hypoplasia and diaphragmatic hernia. Clinical dysmorphology. 2024. 33. 2. 75-78
Atsushi Hijikata, Mikita Suyama, Shingo Kikugawa, Ryo Matoba, Takuya Naruto, Yumi Enomoto, Kenji Kurosawa, Naoki Harada, Kumiko Yanagi, Tadashi Kaname, et al. Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing. Nucleic acids research. 2024. 52. 1. 114-124

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MISC (16)：

池田梓, 山本亜矢子, 市川和志, 熊木達郎, 蒲ひかり, 露崎悠, 辻恵, 井合瑞江, 山下純正, 榎本友美, et al. Lennox-Gastaut症候群を呈したChristianson症候群の2例. 脳と発達. 2019. 51. Suppl. S324-S324
湊川真理, 横井貴之, 榎本友美, 井田一美, 鶴崎美徳, 原田法彰, 成戸卓也, 黒澤健司. TBL1XR1遺伝子に新規変異を認めた知的障害、自閉スペクトラム症および特異顔貌を示す1症例(A novel mutation of TBL1XR1 in individual with autism spectrum disorder and facial dysmorphism). 脳と発達. 2017. 49. Suppl. S425-S425
横井貴之, 湊川真理, 羽田野ちひろ, 榎本友美, 齋藤敏幸, 永井淳一, 黒澤健司. WHSCR-2の欠失はWolf-Hirshhorn症候群の表現型に十分ではない. 日本小児科学会雑誌. 2017. 121. 2. 390-390
横井貴之, 羽田野ちひろ, 鶴崎美徳, 榎本友美, 成戸卓也, 黒澤健司. 難治性てんかん関連遺伝子は非症候性発達遅滞の原因となる. 日本小児科学会雑誌. 2016. 120. 2. 478-478
横井貴之, 大橋育子, 黒田友紀子, 羽田野ちひろ, 榎本友美, 成戸卓也, 升野光雄, 黒澤健司. 次世代シーケンサーを用いた遺伝性疾患におけるコピー数異常の検出. 日本遺伝カウンセリング学会誌. 2015. 36. 2. 63-63

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Education (3)：

Professional career (1)：

Work history (2)：

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