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Expanding the phenotypic spectrum of ARCN1-related syndrome.
Ritter AL, Gold J, Hayashi H, Ackermann AM, Hanke S, Skraban C, Cuddapah S, Bhoj E, Li D, Kuroda Y, Wen J, Takeda R, Bibb A, El Chehadeh S, Piton A, Ohl J, Kukolich MK, Nagasaki K, Kato K, Ogi T, Bhatti T, Russo P, Krock B, Murrell JR, Sullivan JA, Shashi V, Stong N, Hakonarson H, Sawano K, Torti E, Willaert R, Si Y, Wilcox WR, Wirgenes KV, Thomassen K, Carlotti K, Erwin A, Lazier J, Marquardt T, He M, Edmondson AC, Izumi K. Ritter AL, et al. Among authors: kuroda y. Genet Med. 2022 Jun;24(6):1227-1237. doi: 10.1016/j.gim.2022.02.005. Epub 2022 Mar 14. Genet Med. 2022. PMID: 35300924 Free PMC article.
Dominant-negative variants in CBX1 cause a neurodevelopmental disorder.
Kuroda Y, Iwata-Otsubo A, Dias KR, Temple SEL, Nagao K, De Hayr L, Zhu Y, Isobe SY, Nishibuchi G, Fiordaliso SK, Fujita Y, Rippert AL, Baker SW, Leung ML, Koboldt DC, Harman A, Keena BA, Kazama I, Subramanian GM, Manickam K, Schmalz B, Latsko M, Zackai EH, Edwards M, Evans CA, Dulik MC, Buckley MF, Yamashita T, O'Brien WT, Harvey RJ, Obuse C, Roscioli T, Izumi K. Kuroda Y, et al. Genet Med. 2023 Jul;25(7):100861. doi: 10.1016/j.gim.2023.100861. Epub 2023 Apr 20. Genet Med. 2023. PMID: 37087635
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.
Iwata-Otsubo A, Skraban CM, Yoshimura A, Sakata T, Alves CAP, Fiordaliso SK, Kuroda Y, Vengoechea J, Grochowsky A, Ernste P, Lulis L, Nesbitt A, Tayoun AA, Gray C, Towne MC, Radtke K, Normand EA, Rhodes L, Seiler C, Shirahige K, Izumi K. Iwata-Otsubo A, et al. Among authors: kuroda y. Hum Genet. 2024 Mar;143(3):437-453. doi: 10.1007/s00439-024-02656-3. Epub 2024 Mar 23. Hum Genet. 2024. PMID: 38520561
A Japanese patient with RAD51-associated Fanconi anemia.
Takenaka S, Kuroda Y, Ohta S, Mizuno Y, Hiwatari M, Miyatake S, Matsumoto N, Oka A. Takenaka S, et al. Among authors: kuroda y. Am J Med Genet A. 2019 Jun;179(6):900-902. doi: 10.1002/ajmg.a.61130. Epub 2019 Mar 25. Am J Med Genet A. 2019. PMID: 30907510
2,962 results