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Iscience|May 21, 2026
The mTOR-Dop1a-Agpat2 axis regulates nuclear phospholipid homeostasisHirotaka Ariyama, Atsushi Tsukamura, Satoko Miyatake, et al.American Journal of Human Genetics|July 2, 2019
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe CasesYoshiko Murakami, Thi Tuyet Mai Nguyen, Nissan Baratang, et al.Nature Communications|June 9, 2019
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathyAtsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, et al.Human Mutation|November 1, 2020
Efficient detection of copy-number variations using exome data: Batch- and sex-based analysesYuri Uchiyama, Daisuke Yamaguchi, Kazuhiro Iwama, et al.American Journal of Human Genetics|June 11, 2013
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathyGianina Ravenscroft, Satoko Miyatake, Vilma-Lotta Lehtokari, et al.NPJ Genomic Medicine|August 26, 2025
Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delayKohei Hamanaka, Atsushi Fujita, Satoko Miyatake, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 28, 2022
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophyMasamune Sakamoto, Kazuhiro Iwama, Masayuki Sasaki, et al.Brain : a Journal of Neurology|July 31, 2024
Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial gliaYuji Nakamura, Issei S Shimada, Reza Maroofian, et al.Journal of Medical Genetics|August 1, 2020
Prenatal clinical manifestations in individuals with <i>COL4A1/2</i> variantsToshiyuki Itai, Satoko Miyatake, Masataka Taguri, et al.Journal of Human Genetics|September 19, 2019
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patientsFutoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto, et al.Pageof 22