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Page 1
Recurrent de novo MAPK8IP3 variants cause neurological phenotypes.
Iwasawa S, Yanagi K, Kikuchi A, Kobayashi Y, Haginoya K, Matsumoto H, Kurosawa K, Ochiai M, Sakai Y, Fujita A, Miyake N, Niihori T, Shirota M, Funayama R, Nonoyama S, Ohga S, Kawame H, Nakayama K, Aoki Y, Matsumoto N, Kaname T, Matsubara Y, Shoji W, Kure S. Iwasawa S, et al. Ann Neurol. 2019 Jun;85(6):927-933. doi: 10.1002/ana.25481. Epub 2019 Apr 25. Ann Neurol. 2019. PMID: 30945334
Biallelic GALM pathogenic variants cause a novel type of galactosemia.
Wada Y, Kikuchi A, Arai-Ichinoi N, Sakamoto O, Takezawa Y, Iwasawa S, Niihori T, Nyuzuki H, Nakajima Y, Ogawa E, Ishige M, Hirai H, Sasai H, Fujiki R, Shirota M, Funayama R, Yamamoto M, Ito T, Ohara O, Nakayama K, Aoki Y, Koshiba S, Fukao T, Kure S. Wada Y, et al. Among authors: iwasawa s. Genet Med. 2019 Jun;21(6):1286-1294. doi: 10.1038/s41436-018-0340-x. Epub 2018 Oct 19. Genet Med. 2019. PMID: 30451973 Free article.
Correction: Biallelic GALM pathogenic variants cause a novel type of galactosemia.
Wada Y, Kikuchi A, Arai-Ichinoi N, Sakamoto O, Takezawa Y, Iwasawa S, Niihori T, Nyuzuki H, Nakajima Y, Ogawa E, Ishige M, Hirai H, Sasai H, Fujiki R, Shirota M, Funayama R, Yamamoto M, Ito T, Ohara O, Nakayama K, Aoki Y, Koshiba S, Fukao T, Kure S. Wada Y, et al. Among authors: iwasawa s. Genet Med. 2020 Jul;22(7):1281. doi: 10.1038/s41436-020-0836-z. Genet Med. 2020. PMID: 32499603 Free article.
A sublethal ATP11A mutation associated with neurological deterioration causes aberrant phosphatidylcholine flipping in plasma membranes.
Segawa K, Kikuchi A, Noji T, Sugiura Y, Hiraga K, Suzuki C, Haginoya K, Kobayashi Y, Matsunaga M, Ochiai Y, Yamada K, Nishimura T, Iwasawa S, Shoji W, Sugihara F, Nishino K, Kosako H, Ikawa M, Uchiyama Y, Suematsu M, Ishikita H, Kure S, Nagata S. Segawa K, et al. Among authors: iwasawa s. J Clin Invest. 2021 Sep 15;131(18):e148005. doi: 10.1172/JCI148005. J Clin Invest. 2021. PMID: 34403372 Free PMC article.
Two Distinct Cases of Adult-onset Kawasaki Disease.
Onoki T, Metoki T, Iwasawa S, Kawano K, Kimura M, Kure S, Ota C. Onoki T, et al. Among authors: iwasawa s. Intern Med. 2022 Dec 1;61(23):3525-3529. doi: 10.2169/internalmedicine.9044-21. Epub 2022 Apr 23. Intern Med. 2022. PMID: 35466164 Free PMC article.
Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population.
Yaoita H, Kawai E, Takayama J, Iwasawa S, Saijo N, Abiko M, Suzuki K, Kimura M, Ozawa A, Tamiya G, Kure S, Kikuchi A. Yaoita H, et al. Among authors: iwasawa s. J Hum Genet. 2024 May;69(5):177-183. doi: 10.1038/s10038-024-01223-y. Epub 2024 Feb 13. J Hum Genet. 2024. PMID: 38351237 Free PMC article.
Correction: Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population.
Yaoita H, Kawai E, Takayama J, Iwasawa S, Saijo N, Abiko M, Suzuki K, Kimura M, Ozawa A, Tamiya G, Kure S, Kikuchi A. Yaoita H, et al. Among authors: iwasawa s. J Hum Genet. 2024 May;69(5):185. doi: 10.1038/s10038-024-01245-6. J Hum Genet. 2024. PMID: 38548934 Free PMC article. No abstract available.
133 results