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Attitudes toward and current status of disclosure of secondary findings from next-generation sequencing: a nation-wide survey of clinical genetics professionals in Japan.
Tsuchiya M, Yamada T, Akaishi R, Hamanoue H, Hirasawa A, Hyodo M, Imoto I, Kosho T, Kurosawa K, Murakami H, Nakatani K, Nomura F, Sasaki A, Shimizu K, Tamai M, Umemura H, Watanabe A, Yoshida A, Yoshihashi H, Yotsumoto J, Kosugi S. Tsuchiya M, et al. Among authors: yoshihashi h. J Hum Genet. 2020 Dec;65(12):1045-1053. doi: 10.1038/s10038-020-0802-2. Epub 2020 Jul 13. J Hum Genet. 2020. PMID: 32661284 Free article.
1p36 deletion syndrome associated with Prader-Willi-like phenotype.
Tsuyusaki Y, Yoshihashi H, Furuya N, Adachi M, Osaka H, Yamamoto K, Kurosawa K. Tsuyusaki Y, et al. Among authors: yoshihashi h. Pediatr Int. 2010 Aug;52(4):547-50. doi: 10.1111/j.1442-200X.2010.03090.x. Pediatr Int. 2010. PMID: 20113418
Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies.
Hayashi S, Imoto I, Aizu Y, Okamoto N, Mizuno S, Kurosawa K, Okamoto N, Honda S, Araki S, Mizutani S, Numabe H, Saitoh S, Kosho T, Fukushima Y, Mitsubuchi H, Endo F, Chinen Y, Kosaki R, Okuyama T, Ohki H, Yoshihashi H, Ono M, Takada F, Ono H, Yagi M, Matsumoto H, Makita Y, Hata A, Inazawa J. Hayashi S, et al. Among authors: yoshihashi h. J Hum Genet. 2011 Feb;56(2):110-24. doi: 10.1038/jhg.2010.129. Epub 2010 Oct 28. J Hum Genet. 2011. PMID: 20981036
The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints.
Honda S, Hayashi S, Nakane T, Imoto I, Kurosawa K, Mizuno S, Okamoto N, Kato M, Yoshihashi H, Kubota T, Nakagawa E, Goto Y, Inazawa J. Honda S, et al. Among authors: yoshihashi h. Am J Med Genet A. 2012 Jun;158A(6):1292-303. doi: 10.1002/ajmg.a.35321. Epub 2012 Apr 23. Am J Med Genet A. 2012. PMID: 22528406
Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex.
Nagata E, Kano H, Kato F, Yamaguchi R, Nakashima S, Takayama S, Kosaki R, Tonoki H, Mizuno S, Watanabe S, Yoshiura K, Kosho T, Hasegawa T, Kimizuka M, Suzuki A, Shimizu K, Ohashi H, Haga N, Numabe H, Horii E, Nagai T, Yoshihashi H, Nishimura G, Toda T, Takada S, Yokoyama S, Asahara H, Sano S, Fukami M, Ikegawa S, Ogata T. Nagata E, et al. Among authors: yoshihashi h. Orphanet J Rare Dis. 2014 Oct 21;9:125. doi: 10.1186/s13023-014-0125-5. Orphanet J Rare Dis. 2014. PMID: 25351291 Free PMC article.
Attitudes of clinical geneticists and certified genetic counselors to genome editing and its clinical applications: A nation-wide questionnaire survey in Japan.
Taguchi I, Yamada T, Akaishi R, Imoto I, Kurosawa K, Nakatani K, Nomura F, Hamanoue H, Hyodo M, Murakami H, Yoshihashi H, Yotsumoto J, Kosugi S. Taguchi I, et al. Among authors: yoshihashi h. J Hum Genet. 2019 Sep;64(9):945-954. doi: 10.1038/s10038-019-0635-z. Epub 2019 Jul 5. J Hum Genet. 2019. PMID: 31273322 Clinical Trial.
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
Murakami H, Tsurusaki Y, Enomoto K, Kuroda Y, Yokoi T, Furuya N, Yoshihashi H, Minatogawa M, Abe-Hatano C, Ohashi I, Nishimura N, Kumaki T, Enomoto Y, Naruto T, Iwasaki F, Harada N, Ishikawa A, Kawame H, Sameshima K, Yamaguchi Y, Kobayashi M, Tominaga M, Ishikiriyama S, Tanaka T, Suzumura H, Ninomiya S, Kondo A, Kaname T, Kosaki K, Masuno M, Kuroki Y, Kurosawa K. Murakami H, et al. Among authors: yoshihashi h. Am J Med Genet A. 2020 Oct;182(10):2333-2344. doi: 10.1002/ajmg.a.61793. Epub 2020 Aug 17. Am J Med Genet A. 2020. PMID: 32803813
71 results