Publications by authors named "Y Utsuno"

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Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders.
Yukina Hayashi, Kenta Kajiwara, Seiji Mizuno, Nobuhiko Okamoto, Mei Yan Chan, Yasuhiro Utsuno

J Hum Genet· December 2025

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A practical framework for predicting splicing single nucleotide variants in exome sequencing.
Yasuhiro Utsuno, Kohei Hamanaka, Masamune Sakamoto, Naomi Tsuchida, Yuri Uchiyama

NAR Genom Bioinform· December 2025

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Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.
Kohei Hamanaka, Atsushi Fujita, Satoko Miyatake, Kazuharu Misawa, Eriko Koshimizu, Yasuhiro Utsuno

NPJ Genom Med· August 2025

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Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders.
Yasuhiro Utsuno, Keisuke Hamada, Kohei Hamanaka, Keita Miyoshi, Keiji Tsuchimoto

J Hum Genet· February 2024

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Publisher Correction: First observation of O.
Y Kondo, N L Achouri, H Al Falou, L Atar, T Aumann, Y Utsuno

Nature· November 2023

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