Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes.

doi:10.1038/gim.2016.197

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Article

Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2017

Muramatsu Hideki, Okuno Yusuke, Yoshida Kenichi, Shiraishi Yuichi, Doisaki Sayoko, Narita Atsushi, Sakaguchi Hirotoshi, Kawashima Nozomu, Wang Xinan, Xu Yinyan, Chiba Kenichi, Tanaka Hiroko, Hama Asahito, Sanada Masashi, Takahashi Yoshiyuki, Kanno Hitoshi, Yamaguchi Hiroki, Ohga Shouichi, Manabe Atsushi, Harigae Hideo, Kunishima Shinji, Ishii Eiichi, Kobayashi Masao, Koike Kenichi, Watanabe Kenichiro, Ito Etsuro, Takata Minoru, Yabe Miharu, Ogawa Seishi, Miyano Satoru, Kojima Seiji

Abstract excerpt

PURPOSE: Precise genetic diagnosis of inherited bone marrow failure syndromes (IBMFS), a heterogeneous group of genetic disorders, is challenging but essential for precise clinical decision making. METHODS: We analyzed 121 IBMFS patients using a targeted sequencing covering 184 associated genes and 250 IBMFS patients using whole-exome sequencing (WES). RESULTS: We achieved successful genetic diagnoses for 53 of...

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PMID: 28102861
DOI: 10.1038/gim.2016.197

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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