• 1166 Citations
  • 21 h-Index
20062020

Research output per year

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Research Output

  • 1166 Citations
  • 21 h-Index
  • 55 Article
  • 5 Review article
  • 2 Comment/debate
  • 1 Short survey
2020

A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia

Kawamura, R., Kato, T., Miyai, S., Suzuki, F., Naru, Y., Kato, M., Tanaka, K., Nagasaka, M., Tsutsumi, M., Inagaki, H., Ioroi, T., Yoshida, M., Nao, T., Conlin, L. K., Iijima, K., Kurahashi, H. & Taniguchi-Ikeda, M., 01-01-2020, (Accepted/In press) In : Journal of Human Genetics. 65, 8, p. 705-709 5 p.

Research output: Contribution to journalArticle

Open Access

Analysis of the Origin of Double Mosaic Aneuploidy in Two Cases

Kato, T., Kawai, M., Miyai, S., Suzuki, F., Tsutsumi, M., Mizuno, S., Ikeda, T. & Kurahashi, H., 01-01-2020, (Accepted/In press) In : Cytogenetic and Genome Research.

Research output: Contribution to journalArticle

Erratum: Preimplantation genetic testing for aneuploidy: A comparison of live birth rates in patients with recurrent pregnancy loss due to embryonic aneuploidy or recurrent implantation failure (Human Reproduction (2019) 34 (2340-2348) DOI: 10.1093/humrep/dez229)

Sato, T., Sugiura-Ogasawara, M., Ozawa, F., Yamamoto, T., Kato, T., Kurahashi, H., Kuroda, T., Aoyama, N., Kato, K., Kobayashi, R., Fukuda, A., Utsunomiya, T., Kuwahara, A., Saito, H., Takeshita, T. & Irahara, M., 01-01-2020, In : Human Reproduction. 35, 1, 1 p.

Research output: Contribution to journalComment/debate

Open Access
1 Citation (Scopus)

Novel mutation in the KITLG gene in familial progressive hyperpigmentation with or without hypopigmentation

Kato, M., Yagami, A., Tsukamoto, T., Shinkai, Y., Kato, T. & Kurahashi, H., 01-06-2020, In : Journal of Dermatology. 47, 6, p. 669-672 4 p.

Research output: Contribution to journalArticle

The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications

Kato, T., Inagaki, H., Miyai, S., Suzuki, F., Naru, Y., Shinkai, Y., Kato, A., Kanyama, K., Mizuno, S., Muramatsu, Y., Yamamoto, T., Shinya, M., Tazaki, Y., Hiwatashi, S., Ikeda, T., Ozaki, M. & Kurahashi, H., 01-01-2020, (Accepted/In press) In : Human Genetics.

Research output: Contribution to journalArticle

2019

A case of dihydropyrimidinase deficiency incidentally detected by urine metabolome analysis

Tsuchiya, H., Akiyama, T., Kuhara, T., Nakajima, Y., Ohse, M., Kurahashi, H., Kato, T., Maeda, Y., Yoshinaga, H. & Kobayashi, K., 03-2019, In : Brain and Development. 41, 3, p. 280-284 5 p.

Research output: Contribution to journalArticle

A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: A case report

Tsutsumi, M., Hattori, H., Akita, N., Maeda, N., Kubota, T., Horibe, K., Fujita, N., Kawai, M., Shinkai, Y., Kato, M., Kato, T., Kawamura, R., Suzuki, F. & Kurahashi, H., 05-12-2019, In : BMC Medical Genomics. 12, 1, 182.

Research output: Contribution to journalArticle

Open Access
1 Citation (Scopus)

DNA methylation accumulation in gastric mucosa adjacent to cancer after Helicobacter pylori eradication

Tahara, S., Tahara, T., Horiguchi, N., Kato, T., Shinkai, Y., Yamashita, H., Yamada, H., Kawamura, T., Terada, T., Okubo, M., Nagasaka, M., Nakagawa, Y., Shibata, T., Yamada, S., Urano, M., Tsukamoto, T., Kurahashi, H., Kuroda, M. & Ohmiya, N., 01-01-2019, In : International Journal of Cancer. 144, 1, p. 80-88 9 p.

Research output: Contribution to journalArticle

5 Citations (Scopus)

FOXA2 gene mutation in a patient with congenital complex pituitary hormone deficiency

Boda, H., Miyata, M., Inagaki, H., Shinkai, Y., Kato, T., Yoshikawa, T. & Kurahashi, H., 11-2019, In : European Journal of Medical Genetics. 62, 11, 103570.

Research output: Contribution to journalArticle

2 Citations (Scopus)

Multiplex PCR in noninvasive prenatal diagnosis for FGFR3-related disorders

Terasawa, S., Kato, A., Nishizawa, H., Kato, T., Yoshizawa, H., Noda, Y., Miyazaki, J., Ito, M., Sekiya, T., Fujii, T. & Kurahashi, H., 01-01-2019, In : Congenital anomalies. 59, 1, p. 4-10 7 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Obstetric complication-associated ANXA5 promoter polymorphisms may affect gene expression via DNA secondary structures

Inagaki, H., Ota, S., Nishizawa, H., Miyamura, H., Nakahira, K., Suzuki, M., Nishiyama, S., Kato, T., Yanagihara, I. & Kurahashi, H., 01-05-2019, In : Journal of Human Genetics. 64, 5, p. 459-466 8 p.

Research output: Contribution to journalArticle

Preimplantation genetic testing for aneuploidy: A comparison of live birth rates in patients with recurrent pregnancy loss due to embryonic aneuploidy or recurrent implantation failure

Sato, T., Sugiura-Ogasawara, M., Ozawa, F., Yamamoto, T., Kato, T., Kurahashi, H., Kuroda, T., Aoyama, N., Kato, K., Kobayashi, R., Fukuda, A., Utsunomiya, T., Kuwahara, A., Saito, H., Takeshita, T. & Irahara, M., 01-12-2019, In : Human Reproduction. 34, 12, p. 2340-2349 10 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)

Prostate stem cell antigen gene polymorphism is associated with H. Pylori–related promoter DNA methylation in nonneoplastic gastric epithelium

Tahara, T., Tahara, S., Horiguchi, N., Kato, T., Shinkai, Y., Okubo, M., Terada, T., Yoshida, D., Funasaka, K., Nagasaka, M., Nakagawa, Y., Kurahashi, H., Shibata, T., Tsukamoto, T. & Ohmiya, N., 01-01-2019, In : Cancer Prevention Research. 12, 9, p. 579-584 6 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)
2018

Genomic Characterization of Chromosomal Insertions: Insights into the Mechanisms Underlying Chromothripsis

Kato, T., Ouchi, Y., Inagaki, H., Makita, Y., Mizuno, S., Kajita, M., Ikeda, T., Takeuchi, K. & Kurahashi, H., 01-01-2018, In : Cytogenetic and Genome Research. 153, 1, p. 1-9 9 p.

Research output: Contribution to journalArticle

10 Citations (Scopus)

Lethal persistent pulmonary hypertension of the newborn in Bohring–Opitz syndrome

Kibe, M., Ibara, S., Inagaki, H., Kato, T., Kurahashi, H. & Ikeda, T., 05-2018, In : American Journal of Medical Genetics, Part A. 176, 5, p. 1245-1248 4 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Potential role for nectin-4 in the pathogenesis of pre-eclampsia: A molecular genetic study

Ito, M., Nishizawa, H., Tsutsumi, M., Kato, A., Sakabe, Y., Noda, Y., Ohwaki, A., Miyazaki, J., Kato, T., Shiogama, K., Sekiya, T., Kurahashi, H. & Fujii, T., 14-09-2018, In : BMC Medical Genetics. 19, 1, 166.

Research output: Contribution to journalArticle

Prenatal diagnosis of premature chromatid separation/mosaic variegated aneuploidy (PCS/MVA) syndrome

Yamaguchi, T., Yamaguchi, M., Akeno, K., Fujisaki, M., Sumiyoshi, K., Ohashi, M., Sameshima, H., Ozaki, M., Kato, M., Kato, T., Hosoba, E. & Kurahashi, H., 01-07-2018, In : Journal of Obstetrics and Gynaecology Research. 44, 7, p. 1313-1317 5 p.

Research output: Contribution to journalArticle

2 Citations (Scopus)

Twin pregnancy with chromosomal abnormalities mimicking a gestational trophoblastic disorder and coexistent foetus on ultrasound

Ohwaki, A., Nishizawa, H., Aida, N., Kato, T., Kambayashi, A., Miyazaki, J., Ito, M., Urano, M., Kiriyama, Y., Kuroda, M., Nakayama, M., Sonta, S. I., Suzumori, K., Sekiya, T., Kurahashi, H. & Fujii, T., 03-10-2018, In : Journal of Obstetrics and Gynaecology. 38, 7, p. 1023-1025 3 p.

Research output: Contribution to journalArticle

2017

A Japanese case of β-ureidopropionase deficiency with dysmorphic features

Akiyama, T., Shibata, T., Yoshinaga, H., Kuhara, T., Nakajima, Y., Kato, T., Maeda, Y., Ohse, M., Oka, M., Kageyama, M. & Kobayashi, K., 01-01-2017, In : Brain and Development. 39, 1, p. 58-61 4 p.

Research output: Contribution to journalArticle

2 Citations (Scopus)

PCS/MVA syndrome caused by an Alu insertion in the BUB1B gene

Kato, M., Kato, T., Hosoba, E., Ohashi, M., Fujisaki, M., Ozaki, M., Yamaguchi, M., Sameshima, H. & Kurahashi, H., 08-06-2017, In : Human Genome Variation. 4, 17021.

Research output: Contribution to journalArticle

Open Access
4 Citations (Scopus)

Remote intracranial recurrence of IDH mutant gliomas is associated with TP53 mutations and an 8q gain

Nakae, S., Kato, T., Murayama, K., Sasaki, H., Abe, M., Kumon, M., Kumai, T., Yamashiro, K., Inamasu, J., Hasegawa, M., Kurahashi, H. & Hirose, Y., 17-10-2017, In : Oncotarget. 8, 49, p. 84729-84742 14 p.

Research output: Contribution to journalArticle

2016

Increased levels of soluble corin in pre-eclampsia and fetal growth restriction

Miyazaki, J., Nishizawa, H., Kambayashi, A., Ito, M., Noda, Y., Terasawa, S., Kato, T., Miyamura, H., Shiogama, K., Sekiya, T., Kurahashi, H. & Fujii, T., 01-12-2016, In : Placenta. 48, p. 20-25 6 p.

Research output: Contribution to journalArticle

13 Citations (Scopus)

Palindrome-mediated translocations in humans: A new mechanistic model for gross chromosomal rearrangements

Inagaki, H., Kato, T., Tsutsumi, M., Ouchi, Y., Ohye, T. & Kurahashi, H., 12-07-2016, In : Frontiers in Genetics. 7, JUL, 125.

Research output: Contribution to journalShort survey

13 Citations (Scopus)

Preimplantation genetic diagnosis/screening by comprehensive molecular testing

Kurahashi, H., Kato, T., Miyazaki, J., Nishizawa, H., Nishio, E., Furukawa, H., Miyamura, H., Ito, M., Endo, T., Ouchi, Y., Inagaki, H. & Fujii, T., 01-01-2016, In : Reproductive Medicine and Biology. 15, 1, p. 13-19 7 p.

Research output: Contribution to journalArticle

2 Citations (Scopus)
2015

Emergence and characterization of unusual DS-1-like G1P[8] rotavirus strains in children with diarrhea in Thailand

Komoto, S., Tacharoenmuang, R., Guntapong, R., Ide, T., Haga, K., Katayama, K., Kato, T., Ouchi, Y., Kurahashi, H., Tsuji, T., Sangkitporn, S. & Taniguchi, K., 05-11-2015, In : PloS one. 10, 11, e0141739.

Research output: Contribution to journalArticle

38 Citations (Scopus)

Identification of novel FATP4 mutations in a Japanese patient with ichthyosis prematurity syndrome

Tsuge, I., Morishita, M., Kato, T., Tsutsumi, M., Inagaki, H., Mori, Y., Yamawaki, K., Inuo, C., Ieda, K., Ohye, T., Hayakawa, A. & Kurahashi, H., 12-02-2015, In : Human Genome Variation. 2, 15003.

Research output: Contribution to journalArticle

Open Access
4 Citations (Scopus)

Intragenic duplication in the PHKD1 gene in autosomal recessive polycystic kidney disease

Miyazaki, J., Ito, M., Nishizawa, H., Kato, T., Minami, Y., Inagaki, H., Ohye, T., Miyata, M., Boda, H., Kiriyama, Y., Kuroda, M., Sekiya, T., Kurahashi, H. & Fujii, T., 26-10-2015, In : BMC Medical Genetics. 16, 1, 98.

Research output: Contribution to journalArticle

2 Citations (Scopus)

Whole genomic analysis of an unusual human G6P[14] rotavirus strain isolated from a child with diarrhea in Thailand: Evidence for bovine-to-human interspecies transmission and reassortment events

Tacharoenmuang, R., Komoto, S., Guntapong, R., Ide, T., Haga, K., Katayama, K., Kato, T., Ouchi, Y., Kurahashi, H., Tsuji, T., Sangkitporn, S. & Taniguchi, K., 30-09-2015, In : PloS one. 10, 9, e0139381.

Research output: Contribution to journalArticle

17 Citations (Scopus)
2014

Age-related decrease of meiotic cohesins in human oocytes

Tsutsumi, M., Fujiwara, R., Nishizawa, H., Ito, M., Kogo, H., Inagaki, H., Ohye, T., Kato, T., Fujii, T. & Kurahashi, H., 07-05-2014, In : PloS one. 9, 5, e96710.

Research output: Contribution to journalArticle

72 Citations (Scopus)

Analysis of the t(3;8) of hereditary renal cell carcinoma: A palindrome-mediated translocation

Kato, T., Franconi, C. P., Sheridan, M. B., Hacker, A. M., Inagakai, H., Glover, T. W., Arlt, M. F., Drabkin, H. A., Gemmill, R. M., Kurahashi, H. & Emanuel, B. S., 04-2014, In : Cancer Genetics. 207, 4, p. 133-140 8 p.

Research output: Contribution to journalArticle

13 Citations (Scopus)

Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation

Mishra, D., Kato, T., Inagaki, H., Kosho, T., Wakui, K., Kido, Y., Sakazume, S., Taniguchi-Ikeda, M., Morisada, N., Iijima, K., Fukushima, Y., Emanuel, B. S. & Kurahashi, H., 13-08-2014, In : Molecular Cytogenetics. 7, 1, 55.

Research output: Contribution to journalArticle

5 Citations (Scopus)

Prevalence of Emanuel syndrome: Theoretical frequency and surveillance result

Oe, T., Inagaki, H., Kato, T., Tsutsumi, M. & Kurahashi, H., 01-01-2014, In : Pediatrics International. 56, 4, p. 462-466 5 p.

Research output: Contribution to journalReview article

12 Citations (Scopus)
2013

Two sequential cleavage reactions on cruciform DNA structures cause palindrome-mediated chromosomal translocations

Inagaki, H., Ohye, T., Kogo, H., Tsutsumi, M., Kato, T., Tong, M., Emanuel, B. S. & Kurahashi, H., 10-04-2013, In : Nature Communications. 4, 1592.

Research output: Contribution to journalArticle

25 Citations (Scopus)
2012

Chromosomal translocations and palindromic AT-rich repeats

Kato, T., Kurahashi, H. & Emanuel, B. S., 01-06-2012, In : Current Opinion in Genetics and Development. 22, 3, p. 221-228 8 p.

Research output: Contribution to journalReview article

40 Citations (Scopus)
2011

A rare synaptonemal complex protein 3 gene variant in unexplained female infertility

Nishiyama, S., Kishi, T., Kato, T., Suzuki, M., Bolor, H., Nishizawa, H., Iwata, N., Udagawa, Y. & Kurahashi, H., 01-04-2011, In : Molecular Human Reproduction. 17, 4, p. 266-271 6 p.

Research output: Contribution to journalArticle

6 Citations (Scopus)
77 Citations (Scopus)

DNA secondary structure is influenced by genetic variation and alters susceptibility to de novo translocation

Kato, T., Inagaki, H., Tong, M., Kogo, H., Ohye, T., Yamada, K., Tsutsumi, M., Emanuel, B. S. & Kurahashi, H., 14-09-2011, In : Molecular Cytogenetics. 4, 1, 18.

Research output: Contribution to journalArticle

6 Citations (Scopus)

Lack of association between orexin receptor gene polymorphisms and obstructive sleep apnea syndrome in Japanese

Ahmed, W. A., Mori, T., Nishimura, Y., Nakata, S., Kato, T., Abdelhamid, W., Kurahashi, H. & Suzuki, K., 01-04-2011, In : Sleep and Biological Rhythms. 9, 2, p. 73-77 5 p.

Research output: Contribution to journalArticle

Polymorphisms in the annexin A5 gene promoter in Japanese women with recurrent pregnancy loss

Miyamura, H., Nishizawa, H., Ota, S., Suzuki, M., Inagaki, A., Egusa, H., Nishiyama, S., Kato, T., Pryor-Koishi, K., Nakanishi, I., Fujita, T., Imayoshi, Y., Markoff, A., Yanagihara, I., Udagawa, Y. & Kurahashi, H., 01-07-2011, In : Molecular Human Reproduction. 17, 7, p. 447-452 6 p., gar008.

Research output: Contribution to journalArticle

43 Citations (Scopus)
2010

A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: The t(8;22)(q24.13;q11.21)

Sheridan, M. B., Kato, T., Haldeman-Englert, C., Jalali, G. R., Milunsky, J. M., Zou, Y., Klaes, R., Gimelli, G., Gimelli, S., Gemmill, R. M., Drabkin, H. A., Hacker, A. M., Brown, J., Tomkins, D., Shaikh, T. H., Kurahashi, H., Zackai, E. H. & Emanuel, B. S., 13-08-2010, In : American Journal of Human Genetics. 87, 2, p. 209-218 10 p.

Research output: Contribution to journalArticle

31 Citations (Scopus)

CD9 gene variations are not associated with female infertility in humans

Nishiyama, S., Kishi, T., Kato, T., Suzuki, M., Nishizawa, H., Pryor-Koishi, K., Sawada, T., Nishiyama, Y., Iwata, N., Udagawa, Y. & Kurahashi, H., 01-03-2010, In : Gynecologic and Obstetric Investigation. 69, 2, p. 116-121 6 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)

Genetic Variation in the Indoleamine 2,3-Dioxygenase Gene in Pre-eclampsia

Nishizawa, H., Kato, T., Ota, S., Nishiyama, S., Pryor-Koishi, K., Suzuki, M., Tsutsumi, M., Inagaki, H., Kurahashi, H. & Udagawa, Y., 01-07-2010, In : American Journal of Reproductive Immunology. 64, 1, p. 68-76 9 p.

Research output: Contribution to journalArticle

8 Citations (Scopus)

Paternal origin of the de novo constitutional t(11;22)(q23;q11)

Ohye, T., Inagaki, H., Kogo, H., Tsutsumi, M., Kato, T., Tong, M., MacVille, M. V. E., Medne, L., Zackai, E. H., Emanuel, B. S. & Kurahashi, H., 01-07-2010, In : European Journal of Human Genetics. 18, 7, p. 783-787 5 p.

Research output: Contribution to journalArticle

21 Citations (Scopus)

Polymorphisms of the 22q11.2 breakpoint region influence the frequency of de novo constitutional t(11;22)s in sperm

Tong, M., Kato, T., Yamada, K., Inagaki, H., Kogo, H., Ohye, T., Tsutsumi, M., Wang, J., Emanuel, B. S. & Kurahashi, H., 13-04-2010, In : Human molecular genetics. 19, 13, p. 2630-2637 8 p., ddq150.

Research output: Contribution to journalArticle

15 Citations (Scopus)

The constitutional t(11;22): Implications for a novel mechanism responsible for gross chromosomal rearrangements

Kurahashi, H., Inagaki, H., Ohye, T., Kogo, H., Tsutsumi, M., Kato, T., Tong, M. & Emanuel, B. S., 01-10-2010, In : Clinical Genetics. 78, 4, p. 299-309 11 p.

Research output: Contribution to journalReview article

33 Citations (Scopus)
2009

Analysis of nitric oxide metabolism as a placental or maternal factor underlying the etiology of pre-eclampsia

Nishizawa, H., Pryor-Koishi, K., Suzuki, M., Kato, T., Sekiya, T., Tada, S., Kurahashi, H. & Udagawa, Y., 01-11-2009, In : Gynecologic and Obstetric Investigation. 68, 4, p. 239-247 9 p.

Research output: Contribution to journalArticle

13 Citations (Scopus)

Chromosomal instability mediated by non-B DNA: Cruciform conformation and not DNA sequence is responsible for recurrent translocation in humans

Inagaki, H., Ohye, T., Kogo, H., Kato, T., Bolor, H., Taniguchi, M., Shaikh, T. H., Emanuel, B. S. & Kurahashi, H., 01-02-2009, In : Genome Research. 19, 2, p. 191-198 8 p.

Research output: Contribution to journalArticle

54 Citations (Scopus)

Impaired DNA replication prompts deletions within palindromic sequences, but does not induce translocations in human cells

Kurahashi, H., Inagaki, H., Kato, T., Hosoba, E., Kogo, H., Ohye, T., Tsutsumi, M., Bolor, H., Tong, M. & Emanuel, B. S., 04-09-2009, In : Human molecular genetics. 18, 18, p. 3397-3406 10 p.

Research output: Contribution to journalArticle

14 Citations (Scopus)

Mutations of the SYCP3 Gene in Women with Recurrent Pregnancy Loss

Bolor, H., Mori, T., Nishiyama, S., Ito, Y., Hosoba, E., Inagaki, H., Kogo, H., Ohye, T., Tsutsumi, M., Kato, T., Tong, M., Nishizawa, H., Pryor-Koishi, K., Kitaoka, E., Sawada, T., Nishiyama, Y., Udagawa, Y. & Kurahashi, H., 09-01-2009, In : American Journal of Human Genetics. 84, 1, p. 14-20 7 p.

Research output: Contribution to journalArticle

56 Citations (Scopus)

Recent advance in our understanding of the molecular nature of chromosomal abnormalities

Kurahashi, H., Bolor, H., Kato, T., Kogo, H., Tsutsumi, M., Inagaki, H. & Ohye, T., 01-05-2009, In : Journal of Human Genetics. 54, 5, p. 253-260 8 p.

Research output: Contribution to journalReview article

28 Citations (Scopus)