Kumiko Yanagi, Eriko Nishi, Arisa Igarashi, Maki Omata, Yukimi Abe, Nana Kobayashi, Kazuhito Satou, Kanako Ishii, Nobuhiko Okamoto, Yoichi Matsubara, et al. Clinical features and molecular characterization of three Japanese patients with autosomal dominant Robinow syndrome caused by DVL3 variants. EUROPEAN JOURNAL OF HUMAN GENETICS. 2022. 30. SUPPL 1. 156-156
柳久美子, 比田井朋美, 小俣牧子, 五十嵐ありさ, 青木大芽, 飯田貴也, 山毛利雅彦, 佐藤万仁, 要匡. Pathogenicity of a synonymous variant of FGFR2 found in a patient with Crouzon syndrome. 日本分子生物学会年会プログラム・要旨集(Web). 2022. 45th
柳久美子, 佐藤未織, 比田井朋美, 小俣牧子, 佐藤万仁, 山毛利雅彦, 五十嵐ありさ, 青木大芽, 飯田貴也, 寒竹正人, et al. Whole genome sequencing resolved a whole exome negative patient with congenital ichthyosis and severe atopic dermatitis. 日本人類遺伝学会大会(CD-ROM). 2022. 67th
柳久美子, COKER Jonathan, 宮奈香, 小俣牧子, 比田井朋美, 五十嵐ありさ, 佐藤万仁, RICHMAN Adam, INDUPURU Suneel, 松原洋一, et al. Long-read whole-genome sequencing with phasing analysis reveals the cause of a suspected family with Joubert syndrome. 日本人類遺伝学会大会(CD-ROM). 2021. 66th