2023.06.29

Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidences

Eur J Med Genet. 2023 Jun 25;104804. doi: 10.1016/j.ejmg.2023.104804. Online ahead of print.

Yamada M^a, Nitta Y^b, Uehara T^a, Suzuki H^a, Miya F^a, Takenouchi T^c, Tamura M^d, Ayabe S^e, Yoshiki A^e, Maeno A^f, Saga Y^g, Furuse T^d, Yamada I^d, Okamoto N^h, Kosaki K^a, Sugie A^b.

^a Center for Medical Genetics, Keio University School of Medicine

^b Brain Research Institute, Niigata University

^c Department of Pediatrics, Keio University School of Medicine

^d Mouse Phenotype Analysis Division, RIKEN BioResource Research Center

^e Experimental Animal Division, RIKEN BioResource Research Center

^f Cell Architecture Laboratory, National Institute of Genetics

^g Mammalian Development Laboratory, Department of Gene Function and Phenomics, National Institute of Genetics

^h Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan

Related BRI Department

• Neuroscience of Disease/Sugie Lab