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Page 1
A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD.
Suga A, Mizobuchi K, Inooka T, Yoshitake K, Minematsu N, Tsunoda K, Kuniyoshi K, Kawai Y, Omae Y, Tokunaga K; NCBN Controls WGS Consortium; Hayashi T, Ueno S, Iwata T. Suga A, et al. Among authors: omae y. Genet Med Open. 2024 Mar 26;2:101843. doi: 10.1016/j.gimo.2024.101843. eCollection 2024. Genet Med Open. 2024. PMID: 39669618 Free PMC article.
Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome.
Orimo K, Mitsui J, Matsukawa T, Tanaka M, Nomoto J, Ishiura H, Omae Y, Kawai Y, Tokunaga K; NCBN Controls WGS Consortium; Toda T, Tsuji S. Orimo K, et al. Among authors: omae y. J Hum Genet. 2024 Dec;69(12):613-621. doi: 10.1038/s10038-024-01266-1. Epub 2024 Jul 18. J Hum Genet. 2024. PMID: 39020124 Free PMC article.
Correction: Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome.
Orimo K, Mitsui J, Matsukawa T, Tanaka M, Nomoto J, Ishiura H, Omae Y, Kawai Y, Tokunaga K; NCBN Controls WGS Consortium; Toda T, Tsuji S. Orimo K, et al. Among authors: omae y. J Hum Genet. 2024 Dec;69(12):679-680. doi: 10.1038/s10038-024-01293-y. J Hum Genet. 2024. PMID: 39304720 Free PMC article. No abstract available.
Exploring the genetic diversity of the Japanese population: Insights from a large-scale whole genome sequencing analysis.
Kawai Y, Watanabe Y, Omae Y, Miyahara R, Khor SS, Noiri E, Kitajima K, Shimanuki H, Gatanaga H, Hata K, Hattori K, Iida A, Ishibashi-Ueda H, Kaname T, Kanto T, Matsumura R, Miyo K, Noguchi M, Ozaki K, Sugiyama M, Takahashi A, Tokuda H, Tomita T, Umezawa A, Watanabe H, Yoshida S, Goto YI, Maruoka Y, Matsubara Y, Niida S, Mizokami M, Tokunaga K. Kawai Y, et al. Among authors: omae y. PLoS Genet. 2023 Dec 7;19(12):e1010625. doi: 10.1371/journal.pgen.1010625. eCollection 2023 Dec. PLoS Genet. 2023. PMID: 38060463 Free PMC article.
Assessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomes.
Nakamura W, Hirata M, Oda S, Chiba K, Okada A, Mateos RN, Sugawa M, Iida N, Ushiama M, Tanabe N, Sakamoto H, Sekine S, Hirasawa A, Kawai Y, Tokunaga K; NCBN Controls WGS Consortium; Tsujimoto SI, Shiba N, Ito S, Yoshida T, Shiraishi Y. Nakamura W, et al. NPJ Genom Med. 2024 Feb 17;9(1):11. doi: 10.1038/s41525-024-00394-z. NPJ Genom Med. 2024. PMID: 38368425 Free PMC article.
87 results