研究業績

研究業績

  • Hayasaka K, Sasaki A, Kishikawa Y, Abiko Y, Arakaki H et al.PHOX2B deletion in congenital central hypoventilation syndrome: is this sufficient for pathogenesis?J Hum Genet. 2025 Nov 5. doi: 10.1038/s10038-025-01429-8.
  • Kobari Y, Miyata N, Takayama J, Saijo N, Suzuki T et al.A Japanese Case of Lenz-Majewski Syndrome With a Novel PTDSS1 Variant. Mol Genet Genomic Med. 2025 13(6):e70112.
  • Saijo N, Yaoita H, Takayama J, Ota C, Kawai E et alA Prevalent TMEM260 Deletion Causes Conotruncal Heart Defects, Including Truncus ArteriosusAm J Med Genet A 2025, 197 (3), e63906
  • Iwafuchi S, Uchida N, Saijo N, Sogi C, Kamimura M et alIdiopathic infantile hypercalcemia with a CYP24A1 variant triggered by vitamin D supplementation in fortified milk: A case reportClin Pediatr Endocrinol 2025, 34 (1), 60-65
  • Sato D, Kirikae H, Nakano T, Katayama S, Yaoita H et alComprehensive genetic analysis for identification of monogenic disorders and selection of appropriate treatments in pediatric patients with persistent thrombocytopeniaPediatric Hematol Oncol 2024, 41 (8), 541-556
  • Kawashima A, Kodama A, Okubo Y, Endo W, Inui T, Ikeda M, Katata Y et alLong‐term clinical observation of patients with heterozygous KIF1A variantsAm J Med Genet A 2024, 194 (10), e63656
  • Narumi S, Nagasaki K, Kiriya M, Uehara E, Akiba K et alFunctional variants in a TTTG microsatellite on 15q26. 1 cause familial nonautoimmune thyroid abnormalitiesNat Genet 2024, 56 (5), 869-876
  • Yaoita H, Kawai E, Takayama J, Iwasawa S, Saijo N et alGenetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese …J Hum Genet 2024, 69 (5), 177-183
  • Inotani T, Horaguchi A, Morishita Y, Yoshida A, Otomo M, et al. Treatment of ZC4H2 Variant- Associated Spastic Paraplegia with Selective Dorsal Rhizotomy and Intensive Postoperative Rehabilitation: A Case Report. Tohoku J Exp Med. 2024 Jan 25. doi: 10.1620/tjem.2024.J004.
  • Uneoka S, Kobayashi T, Numata-Uematsu Y, Oikawa Y, Katata Y, et al. A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor. Pediatr Neurol. 2023 Sep;146:16-20. doi: 10.1016/j.pediatrneurol.2023.06.002.
  • Saito-Hakoda A, Kikuchi A, Takahashi T, Yokoyama Y, Himori N, et al. Familial Paget’s disease of bone with ocular manifestations and a novel TNFRSF11A duplication variant (72dup27). J Bone Miner Metab. 2023 Mar;41(2):193-202. doi: 10.1007/s00774-022-01392-w.
  • Narishige Y, Yaoita H, Shibuya M, Ikeda M, Kodama K, et al. Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2. Tohoku J Exp Med. 2022 Apr 29;256(4):321-326. doi: 10.1620/tjem.2022.J010.
  • Katata Y, Uneoka S, Saijyo N, Aihara Y, Miyazoe T, et al. The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variant. Am J Med Genet A. 2022 Apr;188(4):1293-1298. doi: 10.1002/ajmg.a.62629.
  • Shibuya M, Yaoita H, Kodama K, Okubo Y, Endo W, et al. A patient with early-onset SMAX3 and a novel variant of ATP7A. Brain Dev. 2022 Jan;44(1):63-67.