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Journal of Human Genetics|May 15, 2020
A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunctionMasamune Sakamoto, Den Kouhei, Muzhirah Haniffa, et al.Epilepsia Open|December 8, 2018
<i>PLPBP</i> mutations cause variable phenotypes of developmental and epileptic encephalopathyHiroshi Shiraku, Mitsuko Nakashima, Saoko Takeshita, et al.Gene|October 10, 2013
Novel complex re-arrangement of ARG1 commonly shared by unrelated patients with hyperargininemiaJafar Mohseni, Chia Boon Hock, Che Abdul Razak, et al.Clinical Genetics|September 27, 2021
Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophyKen Saida, Junya Tamaoki, Masayuki Sasaki, et al.American Journal of Human Genetics|August 26, 2025
Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizuresSankalita Ray Das, Rosie Sullivan, Mischa S G Ruegg, et al.Journal of Medical Genetics|July 24, 2025
'Knowing and Treating Kosaki/Penttinen syndrome' international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitorsYordi-Michaël Bouhatous, Cecilie Bredrup, Agnes Maurer, 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.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.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohortDena R Matalon, Angela L Duker, Taylor M Arriaga, 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 2