Hiroaki Murakami

Researcher Name Resolver ID ORCID

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 8

Top Topics

Systemic Sclerosis

Intellectual Disability

Coronary Artery

Top Venues

Congenital anomalies

Pediatric pulmonology

American journal of medical genetics. Part A

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

Publications

Hiroaki Murakami, Yumi Enomoto, Tatsuro Kumaki, Noriko Aida, Kenji Kurosawa
Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1. Journal of human genetics (2023)
Satomi Mori, Koji Tanoue, Hiroyuki Shimizu, Hiroyuki Nagafuchi, Ki-Sung Kim, Hiroaki Murakami, Kenji Kurosawa, Kiyoshi Matsui
Lung disease due to FLNA mutation improved after shunt closure for congenital heart disease. Pediatric pulmonology 56 (5) (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)
Naoto Nishimura, Hiroaki Murakami, Tomoko Hayashi, Hironobu Sato, Kenji Kurosawa
Multiple craniosynostosis and facial dysmorphisms with homozygous IL11RA variant caused by maternal uniparental isodisomy of chromosome 9. Congenital anomalies 60 (5) (2020)
Hiroaki Murakami, Norito Tamura, Yumi Enomoto, Kentaro Shimasaki, Kenji Kurosawa, Kentaro Hanada
Intellectual disability-associated gain-of-function mutations in CERT1 that encodes the ceramide transport protein CERT. PloS one 15 (12) (2020)
Naoto Nishimura, Tatsuro Kumaki, Hiroaki Murakami, Yumi Enomoto, Kaoru Katsumata, Katsuaki Toyoshima, Kenji Kurosawa
Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant. Human genome variation 7 (2020)
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)
Naoto Nishimura, Hiroaki Murakami, Toshiyuki Saito, Mitsuo Masuno, Kenji Kurosawa
Tumor predisposition in an individual with chromosomal rearrangements of 1q31.2-q41 encompassing cell division cycle protein 73. Congenital anomalies 60 (4) (2019)