Hiroaki Murakami

9PUBLICATIONS
13CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Separation technologiesFluid-structure interaction and aeroacousticsInformation systems development methodologies and practiceGene expression (incl. microarray and other genome-wide approaches)
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Publications (9)

|Feb 23, 2025
Two distinct phenotypes in Snijders Blok-Campeau syndrome and characterization of the behavioral phenotype in a zebrafish model.

Yumi Enomoto, Takashi Shiromizu, Sakyo Yasojima

|Nov 10, 2023
Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1.

Hiroaki Murakami, Yumi Enomoto, Tatsuro Kumaki

|Jan 26, 2021
Lung disease due to FLNA mutation improved after shunt closure for congenital heart disease.

Satomi Mori, Koji Tanoue, Hiroyuki Shimizu

|Dec 21, 2020
Intellectual disability-associated gain-of-function mutations in CERT1 that encodes the ceramide transport protein CERT.

Hiroaki Murakami, Norito Tamura, Yumi Enomoto

|Oct 16, 2020
Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant.

Naoto Nishimura, Tatsuro Kumaki, Hiroaki Murakami

|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

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Frequent Collaborators

9 joint publications

Kenji Kurosawa

3 joint publications

Naoto Nishimura

2 joint publications

Yumi Enomoto

2 joint publications

Yoshinori Tsurusaki